amyotrophic lateral sclerosis

Summary

Summary: A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)

Top Publications

  1. pmc Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    Mariely DeJesus-Hernandez
    Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA
    Neuron 72:245-56. 2011
  2. pmc A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
    Alan E Renton
    Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Neuron 72:257-68. 2011
  3. ncbi Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    Manuela Neumann
    Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Science 314:130-3. 2006
  4. ncbi TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
    Jemeen Sreedharan
    Department of Clinical Neuroscience, King s College London, Medical Research Council MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK
    Science 319:1668-72. 2008
  5. ncbi Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation
    M E Gurney
    Department of Cell and Molecular Biology, Northwestern University Medical School, Chicago, IL 60611
    Science 264:1772-5. 1994
  6. ncbi Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
    D R Rosen
    Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Charlestown 02129
    Nature 362:59-62. 1993
  7. ncbi Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
    T J Kwiatkowski
    Department of Neurology, Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA
    Science 323:1205-8. 2009
  8. ncbi Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
    Caroline Vance
    Department of Clinical Neuroscience, King s College London, Medical Research Council MRC Centre for Neurodegeneration Research, Institute of Psychiatry, London SE5 8AF, UK
    Science 323:1208-11. 2009
  9. ncbi TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
    Edor Kabashi
    Center of Excellence in Neuromics, Centre Hospitalier de l Universite de Montreal, and Department of Medicine, University of Montreal, Montreal, Quebec H2L4MI, Canada
    Nat Genet 40:572-4. 2008
  10. ncbi The genetics and neuropathology of amyotrophic lateral sclerosis
    Ammar Al-Chalabi
    Department of Clinical Neuroscience, King s College London, Institute of Psychiatry, De Crespigny Park, London, SE5 8AF, UK
    Acta Neuropathol 124:339-52. 2012

Detail Information

Publications352 found, 100 shown here

  1. pmc Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    Mariely DeJesus-Hernandez
    Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA
    Neuron 72:245-56. 2011
    Several families have been reported with autosomal-dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), genetically linked to chromosome 9p21...
  2. pmc A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
    Alan E Renton
    Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Neuron 72:257-68. 2011
    The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases...
  3. ncbi Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    Manuela Neumann
    Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Science 314:130-3. 2006
    ..inclusions are hallmarks of frontotemporal lobar degeneration with ubiquitin-positive inclusions and amyotrophic lateral sclerosis. Although the identity of the ubiquitinated protein specific to either disorder was unknown, we showed ..
  4. ncbi TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
    Jemeen Sreedharan
    Department of Clinical Neuroscience, King s College London, Medical Research Council MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK
    Science 319:1668-72. 2008
    b>Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder characterized pathologically by ubiquitinated TAR DNA binding protein (TDP-43) inclusions...
  5. ncbi Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation
    M E Gurney
    Department of Cell and Molecular Biology, Northwestern University Medical School, Chicago, IL 60611
    Science 264:1772-5. 1994
    ..of human Cu,Zn superoxide dismutase (SOD) are found in about 20 percent of patients with familial amyotrophic lateral sclerosis (ALS)...
  6. ncbi Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
    D R Rosen
    Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Charlestown 02129
    Nature 362:59-62. 1993
    b>Amyotrophic lateral sclerosis (ALS) is a degenerative disorder of motor neurons in the cortex, brainstem and spinal cord. Its cause is unknown and it is uniformly fatal, typically within five years...
  7. ncbi Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
    T J Kwiatkowski
    Department of Neurology, Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA
    Science 323:1205-8. 2009
    b>Amyotrophic lateral sclerosis (ALS) is a fatal degenerative motor neuron disorder. Ten percent of cases are inherited; most involve unidentified genes...
  8. ncbi Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
    Caroline Vance
    Department of Clinical Neuroscience, King s College London, Medical Research Council MRC Centre for Neurodegeneration Research, Institute of Psychiatry, London SE5 8AF, UK
    Science 323:1208-11. 2009
    b>Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is familial in 10% of cases. We have identified a missense mutation in the gene encoding fused in sarcoma (FUS) in a British kindred, linked to ALS6...
  9. ncbi TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
    Edor Kabashi
    Center of Excellence in Neuromics, Centre Hospitalier de l Universite de Montreal, and Department of Medicine, University of Montreal, Montreal, Quebec H2L4MI, Canada
    Nat Genet 40:572-4. 2008
    Recently, TDP-43 was identified as a key component of ubiquitinated aggregates in amyotrophic lateral sclerosis (ALS), an adult-onset neurological disorder that leads to the degeneration of motor neurons...
  10. ncbi The genetics and neuropathology of amyotrophic lateral sclerosis
    Ammar Al-Chalabi
    Department of Clinical Neuroscience, King s College London, Institute of Psychiatry, De Crespigny Park, London, SE5 8AF, UK
    Acta Neuropathol 124:339-52. 2012
    b>Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of motor neurons leading to death from respiratory failure within about 3 years of symptom onset...
  11. ncbi TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    Tetsuaki Arai
    Department of Psychogeriatrics, Tokyo Institute of Psychiatry, Setagaya Ku, Tokyo 156 8585, Japan
    Biochem Biophys Res Commun 351:602-11. 2006
    ..in frontotemporal lobar degeneration (FTLD) with or without symptoms of motor neuron disease and in amyotrophic lateral sclerosis (ALS)...
  12. ncbi The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
    Kohji Mori
    Adolf Butenandt Institute, Biochemistry, Ludwig Maximilians University LMU Munich, Munich, Germany
    Science 339:1335-8. 2013
    ..the C9orf72 coding region is the most common cause of familial frontotemporal lobar degeneration and amyotrophic lateral sclerosis (FTLD/ALS), but the pathomechanisms involved are unknown...
  13. pmc Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
    Peter E A Ash
    Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA
    Neuron 77:639-46. 2013
    Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are devastating neurodegenerative disorders with clinical, genetic, and neuropathological overlap...
  14. pmc Exome sequencing reveals VCP mutations as a cause of familial ALS
    Janel O Johnson
    Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, Porter Neuroscience Building, NIA, NIH, Bethesda, MD 20892, USA
    Neuron 68:857-64. 2010
    ..in the valosin-containing protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS)...
  15. pmc TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration
    Clotilde Lagier-Tourenne
    Department of Cellular and Molecular Medicine, University of California, La Jolla, CA 92093 6070, USA
    Hum Mol Genet 19:R46-64. 2010
    b>Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are neurodegenerative diseases with clinical and pathological overlap...
  16. pmc Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs
    Clotilde Lagier-Tourenne
    Ludwig Institute for Cancer Research, University of California at San Diego, La Jolla, California, USA
    Nat Neurosci 15:1488-97. 2012
    FUS/TLS (fused in sarcoma/translocated in liposarcoma) and TDP-43 are integrally involved in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia...
  17. pmc Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
    Elisa Majounie
    Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
    Lancet Neurol 11:323-30. 2012
    We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
  18. ncbi Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis
    Laura Ferraiuolo
    Academic Neurology Unit, Sheffield Institute for Translational Neuroscience, Department of Neuroscience, School of Medicine and Biomedical Sciences, University of Sheffield, 385a Glossop Road, Sheffield S10 2HQ, UK
    Nat Rev Neurol 7:616-30. 2011
    b>Amyotrophic lateral sclerosis (ALS) is a genetically diverse disease. At least 15 ALS-associated gene loci have so far been identified, and the causative gene is known in approximately 30% of familial ALS cases...
  19. pmc Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43
    Magdalini Polymenidou
    Ludwig Institute for Cancer Research, University of California at San Diego, La Jolla, California, USA
    Nat Neurosci 14:459-68. 2011
    ..in 6,304 genes as the brain RNA targets for TDP-43, an RNA binding protein that, when mutated, causes amyotrophic lateral sclerosis. Massively parallel sequencing and splicing-sensitive junction arrays revealed that levels of 601 ..
  20. pmc A yeast functional screen predicts new candidate ALS disease genes
    Julien Couthouis
    Departments of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 108:20881-90. 2011
    b>Amyotrophic lateral sclerosis (ALS) is a devastating and universally fatal neurodegenerative disease. Mutations in two related RNA-binding proteins, TDP-43 and FUS, that harbor prion-like domains, cause some forms of ALS...
  21. pmc Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
    Han Xiang Deng
    Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, USA
    Nature 477:211-5. 2011
    b>Amyotrophic lateral sclerosis (ALS) is a paralytic and usually fatal disorder caused by motor-neuron degeneration in the brain and spinal cord. Most cases of ALS are sporadic but about 5-10% are familial...
  22. ncbi p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
    Safa Al-Sarraj
    Department of Clinical Neuropathology, Kings College Hospital, Denmark Hill, London SE5 9RS, UK
    Acta Neuropathol 122:691-702. 2011
    ..containing phosphorylated TDP-43 (p-TDP-43) are the pathological hallmarks of motor neuron disease/amyotrophic lateral sclerosis (MND/ALS) and FTLD-TDP...
  23. pmc The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease
    Oliver D King
    Boston Biomedical Research Institute, 64 Grove St, Watertown, MA 02472, USA
    Brain Res 1462:61-80. 2012
    ..one by one, in the pathology and genetics of devastating neurodegenerative disorders, including: amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U), Alzheimer's ..
  24. ncbi Amyotrophic lateral sclerosis
    Matthew C Kiernan
    Neuroscience Research Australia and Prince of Wales Clinical School, University of New South Wales, Sydney, Australia
    Lancet 377:942-55. 2011
    b>Amyotrophic lateral sclerosis (ALS) is an idiopathic, fatal neurodegenerative disease of the human motor system...
  25. ncbi Onset and progression in inherited ALS determined by motor neurons and microglia
    Severine Boillee
    Ludwig Institute for Cancer Research and Departments of Medicine and Neuroscience, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA
    Science 312:1389-92. 2006
    Dominant mutations in superoxide dismutase cause amyotrophic lateral sclerosis (ALS), a progressive paralytic disease characterized by loss of motor neurons...
  26. ncbi TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
    Ian Ra Mackenzie
    Department of Pathology and Laboratory Medicine, Vancouver General Hospital, Vancouver, BC, Canada
    Lancet Neurol 9:995-1007. 2010
    ..protein aggregates comprise a key characteristic in most neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)...
  27. pmc ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import
    Dorothee Dormann
    DZNE German Center for Neurodegenerative Diseases, Munich, Germany
    EMBO J 29:2841-57. 2010
    Mutations in fused in sarcoma (FUS) are a cause of familial amyotrophic lateral sclerosis (fALS)...
  28. pmc TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration
    Iga Wegorzewska
    Department of Neurology and Hope Center for Neurological Diseases, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 106:18809-14. 2009
    Frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) are neurodegenerative diseases that show considerable clinical and pathologic overlap, with no effective treatments available...
  29. pmc Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond
    Hristelina Ilieva
    Ludwig Institute for Cancer Research and Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA
    J Cell Biol 187:761-72. 2009
    ..Focusing on amyotrophic lateral sclerosis (ALS), especially disease caused by dominant mutations in Cu/Zn superoxide dismutase (SOD1), we review ..
  30. ncbi A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study
    Ilse Gijselinck
    Department of Molecular Genetics, VIB, Antwerp, Belgium
    Lancet Neurol 11:54-65. 2012
    b>Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are extremes of a clinically, pathologically, and genetically overlapping disease spectrum...
  31. ncbi ALS: a disease of motor neurons and their nonneuronal neighbors
    Severine Boillee
    Ludwig Institute for Cancer Research and Departments of Medicine and Neuroscience, University of California, San Diego, La Jolla, California 92093, USA
    Neuron 52:39-59. 2006
    b>Amyotrophic lateral sclerosis is a late-onset progressive neurodegenerative disease affecting motor neurons. The etiology of most ALS cases remains unknown, but 2% of instances are due to mutations in Cu/Zn superoxide dismutase (SOD1)...
  32. ncbi Controversies and priorities in amyotrophic lateral sclerosis
    Martin R Turner
    Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK
    Lancet Neurol 12:310-22. 2013
    Two decades after the discovery that 20% of familial amyotrophic lateral sclerosis (ALS) cases were linked to mutations in the superoxide dismutase-1 (SOD1) gene, a substantial proportion of the remainder of cases of familial ALS have ..
  33. ncbi hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations
    Kohji Mori
    Adolf Butenandt Institute, Biochemistry, Ludwig Maximilians University, Schillerstr 44, 80336, Munich, Germany
    Acta Neuropathol 125:413-23. 2013
    ..expansion GGGGCC within the regulatory region of the gene C9orf72 as the most common cause of familial amyotrophic lateral sclerosis and the second most common cause of frontotemporal lobar degeneration...
  34. ncbi A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43
    Nicholas A Lanson
    Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA
    Hum Mol Genet 20:2510-23. 2011
    b>Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disorder characterized by the loss of motor neurons...
  35. pmc Understanding the role of TDP-43 and FUS/TLS in ALS and beyond
    Sandrine Da Cruz
    Ludwig Institute and Department of Cellular and Molecular Medicine, University of California at San Diego, La Jolla, CA 92093 0670, United States
    Curr Opin Neurobiol 21:904-19. 2011
    Dominant mutations in two DNA/RNA binding proteins, TDP-43 and FUS/TLS, are causes of inherited Amyotrophic Lateral Sclerosis (ALS)...
  36. pmc Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis
    Koji Yamanaka
    Ludwig Institute for Cancer Research and Department of Medicine and Neuroscience, University of California at San Diego, 9500 Gilman Drive, La Jolla, California 92093 0670, USA
    Nat Neurosci 11:251-3. 2008
    Dominant mutations in superoxide dismutase cause amyotrophic lateral sclerosis (ALS), an adult-onset neurodegenerative disease that is characterized by the loss of motor neurons...
  37. ncbi Inflammation and neurovascular changes in amyotrophic lateral sclerosis
    M C Evans
    Nuffield Department of Clinical Neurosciences, Oxford University, UK
    Mol Cell Neurosci 53:34-41. 2013
    ..established as an important factor in the pathogenesis of many neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS)...
  38. pmc Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration
    Zihui Xu
    Department of Human Genetics, Laboratory Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA
    Proc Natl Acad Sci U S A 110:7778-83. 2013
    b>Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) share phenotypic and pathologic overlap...
  39. pmc TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration
    Hans Wils
    Department of Molecular Genetics, VIB, B 2610 Antwerpen, Belgium
    Proc Natl Acad Sci U S A 107:3858-63. 2010
    ..aggregates of RNA-binding protein TDP-43 are a hallmark feature of neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD)...
  40. ncbi Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
    Peter M Andersen
    Institute of Pharmacology and Clinical Neuroscience, Section for Neurology, Umea University, SE 901 85 Umea, Sweden
    Nat Rev Neurol 7:603-15. 2011
    Hereditary amyotrophic lateral sclerosis (ALS) encompasses a group of genetic disorders characterized by adult-onset loss of the lower and upper motor neuron systems, often with involvement of other parts of the nervous system...
  41. pmc Astrocytes expressing ALS-linked mutated SOD1 release factors selectively toxic to motor neurons
    Makiko Nagai
    Department of Neurology, Columbia University, 710 West 168th Street, New York, New York 10032, USA
    Nat Neurosci 10:615-22. 2007
    Mutations in superoxide dismutase-1 (SOD1) cause a form of the fatal paralytic disorder amyotrophic lateral sclerosis (ALS), presumably by a combination of cell-autonomous and non-cell-autonomous processes...
  42. pmc C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
    Pietro Fratta
    Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Sci Rep 2:1016. 2012
    ..of a non-coding GGGGCC-repeat in the first intron of the C9orf72 gene are a common cause of both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)...
  43. pmc Requirements for stress granule recruitment of fused in sarcoma (FUS) and TAR DNA-binding protein of 43 kDa (TDP-43)
    Eva Bentmann
    Adolf Butenandt Institute, Biochemistry, Ludwig Maximilians University, Munchen, Germany
    J Biol Chem 287:23079-94. 2012
    ..containing TAR DNA-binding protein of 43 kDa (TDP-43) or Fused in sarcoma (FUS) are a hallmark of amyotrophic lateral sclerosis (ALS) and several subtypes of frontotemporal lobar degeneration (FTLD)...
  44. pmc Safety and immunological effects of mesenchymal stem cell transplantation in patients with multiple sclerosis and amyotrophic lateral sclerosis
    Dimitrios Karussis
    Department of Neurology, Hadassah Hebrew University Hospital, Ein Karem, Jerusalem IL 91120, Israel
    Arch Neurol 67:1187-94. 2010
    ..and immunological effects of intrathecal and intravenous administration of autologous mesenchymal stem cells (MSCs) (also called mesenchymal stromal cells) in patients with multiple sclerosis (MS) and amyotrophic lateral sclerosis (ALS).
  45. pmc Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules
    Daryl A Bosco
    Department of Neurology, University of Massachusetts Medical School, 55 Lake Avenue North, Worcester, MA 01655, USA
    Hum Mol Genet 19:4160-75. 2010
    Mutations in the RNA-binding protein FUS (fused in sarcoma) are linked to amyotrophic lateral sclerosis (ALS), but the mechanism by which these mutants cause motor neuron degeneration is not known...
  46. pmc Transformation from a neuroprotective to a neurotoxic microglial phenotype in a mouse model of ALS
    Bing Liao
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, China
    Exp Neurol 237:147-52. 2012
    Neuroinflammation is a prominent pathological feature in the spinal cords of patients with amyotrophic lateral sclerosis (ALS), as well as in transgenic mouse models of inherited ALS, and is characterized by activated microglia...
  47. ncbi SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis
    Faisal Fecto
    Division of Neuromuscular Medicine, Ken and Ruth Davee Department of Neurology and Clinical Neurological Sciences, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA
    Arch Neurol 68:1440-6. 2011
    ..The SQSTM1 gene encodes p62, a major pathologic protein involved in neurodegeneration...
  48. pmc The microglial-motoneuron dialogue in ALS
    S H Appel
    Methodist Neurological Institute, Methodist Hospital Research Institute, Houston, TX, USA
    Acta Myol 30:4-8. 2011
    Neuroinflammation is a pathological hallmark of neurodegenerative diseases including amyotrophic lateral sclerosis (ALS), and is characterized by activated microglia at sites of neuronal injury...
  49. ncbi Microglia in ALS: the good, the bad, and the resting
    Jenny S Henkel
    Department of Neurology, Methodist Neurological Institute, The Methodist Hospital Research Institute, The Methodist Hospital, 6560 Fannin Street, Houston, TX 77030, USA
    J Neuroimmune Pharmacol 4:389-98. 2009
    ..including microglial activation and T cell infiltration, is a neuropathological hallmark of amyotrophic lateral sclerosis (ALS), a rapidly progressing neurodegenerative disease...
  50. ncbi Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology
    Paul G Ince
    Department of Neuroscience, Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield S10 2HQ, UK
    Acta Neuropathol 122:657-71. 2011
    Research into amyotrophic lateral sclerosis (ALS) has been stimulated by a series of genetic and molecular pathology discoveries...
  51. pmc Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS
    Daryl A Bosco
    Department of Neurology, University of Massachusetts Medical Center, Worcester, Massachusetts, USA
    Nat Neurosci 13:1396-403. 2010
    ..on copper/zinc superoxide dismutase 1 (SOD1) that impair motor neuron viability and cause familial amyotrophic lateral sclerosis (FALS)...
  52. pmc The seeds of neurodegeneration: prion-like spreading in ALS
    Magdalini Polymenidou
    Ludwig Institute for Cancer Research and Department of Cellular and Molecular Medicine, University of California at San Diego, 9500 Gilman Drive, La Jolla, CA 92093 0670, USA
    Cell 147:498-508. 2011
    ..a prion-like mechanism has now spread to the main misfolded proteins, SOD1 and TDP-43, implicated in amyotrophic lateral sclerosis (ALS)...
  53. pmc Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
    Chi Hong Wu
    Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA
    Nature 488:499-503. 2012
    b>Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disorder resulting from motor neuron death. Approximately 10% of cases are familial (FALS), typically with a dominant inheritance mode...
  54. ncbi ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
    Matthew J Greenway
    Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland
    Nat Genet 38:411-3. 2006
    We recently identified angiogenin (ANG) as a candidate susceptibility gene for amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder characterized by adult-onset loss of motor neurons...
  55. pmc Rethinking ALS: the FUS about TDP-43
    Clotilde Lagier-Tourenne
    Department of Cellular and Molecular Medicine, University of California San Diego, Ludwig Institute for Cancer Research, La Jolla, CA 92093 0670, USA
    Cell 136:1001-4. 2009
    ..Mutations in TDP-43, a DNA/RNA-binding protein, cause an inherited form of the neurodegenerative disease amyotrophic lateral sclerosis (ALS). Two recent studies (Kwiatkowski et al., 2009; Vance et al...
  56. ncbi FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis
    Han Xiang Deng
    Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Chicago, IL 60611, USA
    Ann Neurol 67:739-48. 2010
    b>Amyotrophic lateral sclerosis (ALS) is a fatal disorder of motor neuron degeneration. Most cases of ALS are sporadic (SALS), but about 5 to 10% of ALS cases are familial (FALS)...
  57. pmc Aberrant localization of FUS and TDP43 is associated with misfolding of SOD1 in amyotrophic lateral sclerosis
    Edward Pokrishevsky
    Brain Research Centre, University of British Columbia, Vancouver, Canada
    PLoS ONE 7:e35050. 2012
    b>Amyotrophic lateral sclerosis (ALS) is incurable and characterized by progressive paralysis of the muscles of the limbs, speech and swallowing, and respiration due to the progressive degeneration of voluntary motor neurons...
  58. pmc ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43
    Eveline S Arnold
    Department of Cellular and Molecular Medicine, University of California at San Diego, La Jolla, CA 92093, USA
    Proc Natl Acad Sci U S A 110:E736-45. 2013
    ..DNA binding protein (TDP-43) is the major protein component of ubiquitinated inclusions found in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) with ubiquitinated inclusions...
  59. pmc An over-oxidized form of superoxide dismutase found in sporadic amyotrophic lateral sclerosis with bulbar onset shares a toxic mechanism with mutant SOD1
    Stefania Guareschi
    Weinberg Unit for ALS Research, Department of Neuroscience, Farber Institute for Neurosciences, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Proc Natl Acad Sci U S A 109:5074-9. 2012
    ..suggest that Cu/Zn superoxide dismutase (SOD1) could be pathogenic in both familial and sporadic amyotrophic lateral sclerosis (ALS) through either inheritable or nonheritable modifications...
  60. pmc Targeted depletion of TDP-43 expression in the spinal cord motor neurons leads to the development of amyotrophic lateral sclerosis-like phenotypes in mice
    Lien Szu Wu
    Institute of Molecular Biology, Academia Sinica, Taipei 11574, Taiwan
    J Biol Chem 287:27335-44. 2012
    ALS, or amyotrophic lateral sclerosis, is a progressive and fatal motor neuron disease with no effective medicine...
  61. pmc Non-cell autonomous effect of glia on motor neurons in an embryonic stem cell-based ALS model
    Francesco Paolo Di Giorgio
    The Stowers Medical Institute, the Harvard Stem Cell Institute Harvard University, 7 Divinity Ave, Cambridge, Massachusetts 02138, USA
    Nat Neurosci 10:608-14. 2007
    ..system for studying the molecular and cellular mechanisms that underlie the neurodegenerative disease amyotrophic lateral sclerosis (ALS)...
  62. pmc The ALS-associated proteins FUS and TDP-43 function together to affect Drosophila locomotion and life span
    Ji Wu Wang
    Center for Motor Neuron Biology and Disease, Columbia University Medical Center, New York, New York 10032, USA
    J Clin Invest 121:4118-26. 2011
    The fatal adult motor neuron disease amyotrophic lateral sclerosis (ALS) shares some clinical and pathological overlap with frontotemporal dementia (FTD), an early-onset neurodegenerative disorder...
  63. pmc Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study
    Hannu Laaksovirta
    Department of Neurology, Helsinki University Central Hospital and Molecular Neurology Programme, Biomedicum, University of Helsinki, Helsinki, Finland
    Lancet Neurol 9:978-85. 2010
    The genetic cause of amyotrophic lateral sclerosis (ALS) is not well understood...
  64. pmc Intracellular localization and splicing regulation of FUS/TLS are variably affected by amyotrophic lateral sclerosis-linked mutations
    Yoshihiro Kino
    Laboratory for Structural Neuropathology, Brain Science Institute, RIKEN, 2 1, Hirosawa, Wako Shi, Saitama, 351 0198, Japan
    Nucleic Acids Res 39:2781-98. 2011
    ..Mutations in TLS are responsible for familial amyotrophic lateral sclerosis (ALS) type 6...
  65. ncbi Amyotrophic lateral sclerosis is a distal axonopathy: evidence in mice and man
    Lindsey R Fischer
    Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA
    Exp Neurol 185:232-40. 2004
    The SOD1 mutant mouse is the most widely used model of human amyotrophic lateral sclerosis (ALS)...
  66. pmc SIRT1 deacetylase protects against neurodegeneration in models for Alzheimer's disease and amyotrophic lateral sclerosis
    Dohoon Kim
    Howard Hughes Medical Institute, Picower Insitute for Learning and Memory, RIKEN MIT Neuroscience Research Center, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Boston, MA, USA
    EMBO J 26:3169-79. 2007
    ..age underlies a variety of debilitating neurological disorders, including Alzheimer's disease (AD) and amyotrophic lateral sclerosis (ALS), yet few effective treatments are currently available...
  67. pmc Amyotrophic lateral sclerosis
    Lokesh C Wijesekera
    MRC Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, Kings College London, London, UK
    Orphanet J Rare Dis 4:3. 2009
    b>Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive muscular paralysis reflecting degeneration of motor neurones in the primary motor cortex, corticospinal tracts, brainstem and spinal cord...
  68. pmc Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS
    Zhihui Sun
    Department of Cell and Developmental Biology, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America
    PLoS Biol 9:e1000614. 2011
    TDP-43 and FUS are RNA-binding proteins that form cytoplasmic inclusions in some forms of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). Moreover, mutations in TDP-43 and FUS are linked to ALS and FTLD...
  69. ncbi Oxidative stress in ALS: key role in motor neuron injury and therapeutic target
    Sian C Barber
    Academic Neurology Unit and Sheffield Care and Research Centre for Motor Neuron Disorders, Department of Neuroscience, University of Sheffield, Sheffield S10 2RX, UK
    Free Radic Biol Med 48:629-41. 2010
    b>Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by death of motor neurons leading to muscle wasting, paralysis, and death, usually within 2-3 years of symptom onset...
  70. ncbi Mutations of optineurin in amyotrophic lateral sclerosis
    Hirofumi Maruyama
    Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima 734 8553, Japan
    Nature 465:223-6. 2010
    b>Amyotrophic lateral sclerosis (ALS) has its onset in middle age and is a progressive disorder characterized by degeneration of motor neurons of the primary motor cortex, brainstem and spinal cord...
  71. ncbi Current hypotheses for the underlying biology of amyotrophic lateral sclerosis
    Jeffrey D Rothstein
    Department of Neurology and Neuroscience, Brain Science Institute, Johns Hopkins University, Baltimore, MD 21287, USA
    Ann Neurol 65:S3-9. 2009
    The mechanisms involved in selective motor neuron degeneration in amyotrophic lateral sclerosis remain unknown more than 135 years after the disease was first described...
  72. ncbi Neuroimaging in amyotrophic lateral sclerosis
    Martin R Turner
    Nuffield Department of Clinical Neurosciences, Oxford University, UK
    Biomark Med 6:319-37. 2012
    The catastrophic system failure in amyotrophic lateral sclerosis is characterized by progressive neurodegeneration within the corticospinal tracts, brainstem nuclei and spinal cord anterior horns, with an extra-motor pathology that has ..
  73. ncbi The changing scene of amyotrophic lateral sclerosis
    Wim Robberecht
    Laboratory of Neurobiology, VIB Vesalius Research Center, 3000 Leuven, Belgium
    Nat Rev Neurosci 14:248-64. 2013
    Several recent breakthroughs have provided notable insights into the pathogenesis of amyotrophic lateral sclerosis (ALS), with some even shifting our thinking about this neurodegenerative disease and raising the question as to whether ..
  74. pmc A new subtype of frontotemporal lobar degeneration with FUS pathology
    Manuela Neumann
    Institute of Neuropathology, University Hospital of Zurich, Zurich, Switzerland
    Brain 132:2922-31. 2009
    ..Mutations in the fused in sarcoma (FUS) gene have recently been identified as a cause of familial amyotrophic lateral sclerosis, with these cases reported to have abnormal cellular accumulations of FUS protein...
  75. pmc TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity
    Brian S Johnson
    Department of Cell and Developmental Biology, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    J Biol Chem 284:20329-39. 2009
    ..cytoplasmic inclusions containing TDP-43 and its C-terminal fragments are pathological hallmarks of amyotrophic lateral sclerosis (ALS), a fatal motor neuron disorder, and frontotemporal lobar degeneration with ubiquitin-positive ..
  76. ncbi Guidelines for preclinical animal research in ALS/MND: A consensus meeting
    Albert C Ludolph
    Department of Neurology, University of Ulm, Germany
    Amyotroph Lateral Scler 11:38-45. 2010
    ..A second international conference to improve the guidelines was held in 2009. These second and improved guidelines are dedicated to the memory of Sean F. Scott...
  77. ncbi Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo
    Edor Kabashi
    Centre of Excellence in Neuromics, Department of Medicine, Universite de Montre al, Montreal, Quebec, Canada
    Hum Mol Genet 19:671-83. 2010
    TDP-43 has been found in inclusion bodies of multiple neurological disorders, including amyotrophic lateral sclerosis, frontotemporal dementia, Parkinson's disease and Alzheimer's disease...
  78. pmc Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
    Andrew C Elden
    Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Nature 466:1069-75. 2010
    The causes of amyotrophic lateral sclerosis (ALS), a devastating human neurodegenerative disease, are poorly understood, although the protein TDP-43 has been suggested to have a critical role in disease pathogenesis...
  79. ncbi Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS
    Daisuke Ito
    Department of Neurology, School of Medicine, Keio University, Tokyo, Japan
    Ann Neurol 69:152-62. 2011
    ..in sarcoma/translated in liposarcoma (FUS/TLS) protein was recently identified as a cause of familial amyotrophic lateral sclerosis (ALS), as well as a major component of the inclusion bodies found in subtypes of frontotemporal lobar ..
  80. pmc A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
    Agnes L Nishimura
    Human Genome Research Center, Department of Biology, Biosciences Institute, Sao Paulo University, Sao Paulo, Brazil
    Am J Hum Genet 75:822-31. 2004
    ..a group of neurodegenerative disorders with involvement of upper and/or lower motor neurons, such as amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), progressive bulbar palsy, and primary lateral sclerosis...
  81. pmc Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis
    Nicola J Rutherford
    Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America
    PLoS Genet 4:e1000193. 2008
    The TAR DNA-binding protein 43 (TDP-43) has been identified as the major disease protein in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin inclusions (FTLD-U), defining a novel class of ..
  82. pmc T lymphocytes potentiate endogenous neuroprotective inflammation in a mouse model of ALS
    Isaac M Chiu
    Department of Pathology, Immune Disease Institute, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 105:17913-8. 2008
    b>Amyotrophic Lateral Sclerosis (ALS) is an adult-onset, progressive, motor neuron degenerative disease, in which the role of inflammation is not well established...
  83. pmc Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice
    Lionel M Igaz
    Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, and Institute on Aging, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    J Clin Invest 121:726-38. 2011
    b>Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are characterized by cytoplasmic protein aggregates in the brain and spinal cord that include TAR-DNA binding protein 43 (TDP-43)...
  84. ncbi Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons
    John T Dimos
    Harvard Stem Cell Institute, Stowers Medical Institute, Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA
    Science 321:1218-21. 2008
    ..We have generated iPS cells from an 82-year-old woman diagnosed with a familial form of amyotrophic lateral sclerosis (ALS)...
  85. ncbi Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
    Michael A van Es
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Nat Genet 41:1083-7. 2009
    We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1...
  86. pmc Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p
    Heather Stewart
    Division of Neurology, University of British Columbia, Vancouver, BC, Canada
    Acta Neuropathol 123:409-17. 2012
    ..region of the chromosome 9 open-reading frame 72 gene (C9ORF72) as the cause of chromosome 9p-linked amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)...
  87. pmc Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study
    Aleksey Shatunov
    King s College London, Medical Research Council Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, London, UK
    Lancet Neurol 9:986-94. 2010
    b>Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of motor neurons that results in progressive weakness and death from respiratory failure, commonly within about 3 years...
  88. pmc Deficits in axonal transport precede ALS symptoms in vivo
    Lynsey G Bilsland
    Molecular Neuropathobiology Laboratory, Cancer Research UK London Research Institute, London WC2A 3LY, United Kingdom
    Proc Natl Acad Sci U S A 107:20523-8. 2010
    ..A deficit in axonal transport may therefore be a key pathogenic event in ALS and an early disease indicator of motor neuron degeneration...
  89. ncbi Autophagy in spinal cord motor neurons in sporadic amyotrophic lateral sclerosis
    Shoichi Sasaki
    Department of Neurology, Tokyo Women s Medical University, Tokyo, Japan
    J Neuropathol Exp Neurol 70:349-59. 2011
    To assess the potential role of autophagy in amyotrophic lateral sclerosis (ALS), lumbar spinal cords in a total of 19 sporadic ALS cases and 27 age-matched controls were investigated...
  90. pmc Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72
    Melissa E Murray
    Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
    Acta Neuropathol 122:673-90. 2011
    Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are part of a disease spectrum associated with TDP-43 pathology...
  91. pmc Skeletal muscle-restricted expression of human SOD1 causes motor neuron degeneration in transgenic mice
    Margaret Wong
    Division of Neuropathology, Department of Pathology, Johns Hopkins University School of Medicine, 558 Ross Building, 720 Rutland Avenue, Baltimore, MD 21205 2196, USA
    Hum Mol Genet 19:2284-302. 2010
    b>Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease of motor neurons (MNs) that causes skeletal muscle paralysis. Familial forms of ALS are linked to mutations in the superoxide dismutase-1 (SOD1) gene...
  92. pmc TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy
    Michael A Gitcho
    Alzheimer s Disease Research Center, Washington University School of Medicine, St Louis, MO 63110, USA
    Acta Neuropathol 118:633-45. 2009
    Pathogenic mutations in the gene encoding TDP-43, TARDBP, have been reported in familial amyotrophic lateral sclerosis (FALS) and, more recently, in families with a heterogeneous clinical phenotype including both ALS and frontotemporal ..
  93. ncbi Wild-type nonneuronal cells extend survival of SOD1 mutant motor neurons in ALS mice
    A M Clement
    Ludwig Institute for Cancer Research, University of California, 9500 Gilman Drive, La Jolla, CA 92093 0670, USA
    Science 302:113-7. 2003
    The most common inherited [correct] form of amyotrophic lateral sclerosis (ALS), a neurodegenerative disease affecting adult motor neurons, is caused by dominant mutations in the ubiquitously expressed Cu-Zn superoxide dismutase (SOD1)...
  94. ncbi TDP-43 is recruited to stress granules in conditions of oxidative insult
    Claudia Colombrita
    Department of Neurology and Laboratory of Neuroscience, Dino Ferrari Center, Università degli Studi di Milano IRCCS Istituto Auxologico Italiano, Milan, Italy
    J Neurochem 111:1051-61. 2009
    ..forms abnormal ubiquitinated and phosphorylated inclusions in brain tissues from patients with amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration...
  95. pmc Wild-type microglia extend survival in PU.1 knockout mice with familial amyotrophic lateral sclerosis
    David R Beers
    Department of Neurology, Methodist Neurological Institute, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 103:16021-6. 2006
    The most common inherited form of amyotrophic lateral sclerosis (ALS), a neurodegenerative disease affecting adult motoneurons, is caused by dominant mutations in the ubiquitously expressed Cu(2+)/Zn(2+) superoxide dismutase (SOD1)...
  96. pmc Transgenic rat model of neurodegeneration caused by mutation in the TDP gene
    Hongxia Zhou
    Department of Pathology, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America
    PLoS Genet 6:e1000887. 2010
    ..Mutations in the gene encoding TDP-43 (i.e., TDP) have been identified in amyotrophic lateral sclerosis (ALS) and in frontotemporal lobe degeneration associated with motor neuron disease...
  97. ncbi TDP-43 mutation in familial amyotrophic lateral sclerosis
    Akio Yokoseki
    Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan
    Ann Neurol 63:538-42. 2008
    b>Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. Accumulating evidence has shown that 43kDa TAR-DNA-binding protein (TDP-43) is the disease protein in ALS and frontotemporal lobar degeneration...
  98. pmc Frontotemporal dementia and amyotrophic lateral sclerosis-associated disease protein TDP-43 promotes dendritic branching
    Yubing Lu
    Gladstone Institute of Neurological Disease, and Department of Neurology, University of California, San Francisco, CA 94158, USA
    Mol Brain 2:30. 2009
    ..protein implicated in the pathogenesis of frontotemporal dementia (FTD), sporadic and familial amyotrophic lateral sclerosis (ALS), and possibly other neurodegenerative diseases...
  99. pmc Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis
    G Scott Pesiridis
    Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Hum Mol Genet 18:R156-62. 2009
    b>Amyotrophic lateral sclerosis (ALS) is the most common adult motor neuron disease that affects approximately 2/100,000 individuals each year worldwide...
  100. pmc Ubiquilin modifies TDP-43 toxicity in a Drosophila model of amyotrophic lateral sclerosis (ALS)
    Keith A Hanson
    Department of Pharmacology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin 53706, USA
    J Biol Chem 285:11068-72. 2010
    ..is a major constituent of ubiquitin-positive cytosolic aggregates present in neurons of patients with amyotrophic lateral sclerosis (ALS) and ubiquitin-positive fronto-temporal lobar degeneration (FTLD-U)...
  101. pmc Progressive changes in microglia and macrophages in spinal cord and peripheral nerve in the transgenic rat model of amyotrophic lateral sclerosis
    David J Graber
    Department of Pathology, Dartmouth Medical School, One Medical Center Drive, Lebanon, New Hampshire 03756, USA
    J Neuroinflammation 7:8. 2010
    The role of neuroinflammation in motor neuron death of amyotrophic lateral sclerosis (ALS) is unclear...

Research Grants75

  1. Agrin/alpha 3 Na,K-ATPase signaling at the neuromuscular junction
    Martin A Smith; Fiscal Year: 2012
    ..of this system by disease, as occurs in various myasthenic disorders, spinal muscular atrophy, and amyotrophic lateral sclerosis, toxins such as botulinum toxin, or traumatic injury, results in muscle weakness and even death...
  2. Epigenetic mechanisms relevant to the pathogenesis of ALS
    Neil W Kowall; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Amyotrophic Lateral Sclerosis (ALS) is a fatal disease characterized by progressive paralysis due to motor neuron degeneration...
  3. Axonopathy in Glaucoma
    Samuel D Crish; Fiscal Year: 2013
    ..In other neurodegenerative disorders such as Alzheimer's disease, amyotrophic lateral sclerosis, and Huntington's disease, early pathologies occur in first in the axon - and this has been ..
  4. Cellular and Animal Models of FUS Mutations in ALS
    Eric J Huang; Fiscal Year: 2013
    ..More recent evidence shows that mutations in FUS/TLS are found in familial cases of amyotrophic lateral sclerosis (ALS)...
  5. Genetics of the Neuromuscular Junction: Mechanisms and Disease Models
    Robert W Burgess; Fiscal Year: 2013
    ..in humans, create directly relevant animal models for preclinical testing of therapies, and identify new therapeutic targets for these diseases, and possibly other motor neuron diseases such as Amyotrophic Lateral Sclerosis (ALS).
  6. Identification of Compounds to treat Charcot-Marie-Tooth type 2E neuropathy
    RONALD K LIEM; Fiscal Year: 2010
    ..are seen in patients with mutations in NEFL, as well as in other neurodegenerative diseases, such as amyotrophic lateral sclerosis. We have shown that the mutant NFL proteins form aggregates in transfected neuronal and non-neuronal ..
  7. Ca Signaling in Progression of Amyotrophic Lateral Sclerosis in Skeletal Muscle
    Jingsong Zhou; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular disorder involving degeneration of motor neurons and atrophy of skeletal muscle...
  8. Role of Potent Trophic Factors on Glia and Motor Neurons in ALS
    Brian K Kaspar; Fiscal Year: 2013
    b>Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease, which results in muscle paralysis and ultimate respiratory failure and death. The underlying cause for ALS remains unknown with no cure...
  9. Chromatin Modifications and Vulnerability to Glutamate Toxicity
    ALEXEI D KONDRATYEV; Fiscal Year: 2010
    ..conditions, such as Alzheimer's, Huntington's, and Parkinson's diseases, amyotrophic lateral sclerosis, ataxia telangiectasia and many other neurological disorders...
  10. Role of Dendritic Ca2+ Transients in Respiratory Rhythm Generation
    Jack L Feldman; Fiscal Year: 2010
    ..Various neurodegenerative diseases, such as Parkinson's disease, multiple systems atrophy and amyotrophic lateral sclerosis, are associated with sleep disordered breathing that we hypothesize results from the loss of neurons ..
  11. Enhance Production of Functional Recombinant Human Protein C Variant In Mammalian
    Nienwen Chow; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Amyotrophic lateral sclerosis (ALS) is a motor neuron disorder characterized by the degeneration and death of motor neurons. Currently there is no cure for ALS. Most ALS cases are sporadic...
  12. Effects of brain-selective estradiol on gene expression and female sex behavior
    Kim Wallen; Fiscal Year: 2013
    ..sexual motivation, hot flushes, sleep disorders, depression/anxiety, brain and spinal cord trauma, amyotrophic lateral sclerosis, and cognitive dysfunction...
  13. RNA interference therapy for Huntington's disease: studies in non-human primates
    Beverly L Davidson; Fiscal Year: 2010
    ..disorders including, but not limited to, Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis (Lou Gherig's disease), dystonia, spinocerebellar ataxias and Rett's Syndrome...
  14. The Role of the Terminal Complement Pathway in ALS
    Scott R Barnum; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Amyotrophic Lateral Sclerosis (ALS) is a progressive motor neuron disease that leads to degeneration of motor neurons in the cortex, brainstem and spinal cord resulting in progressive paralysis and ..
  15. Testing the efficacy of PGC-1alpha as a therapeutic target for Parkinson's diseas
    HANS BUELER; Fiscal Year: 2010
    ..diseases that are caused by mitochondrial dysfunction and oxidative stress, such as PD and amyotrophic lateral sclerosis. Here we propose to test the hypothesis that boosting mitochondrial biogenesis and function through ..
  16. Optimization of EphA4 antagonists for CNS disorders
    ELENA B contact PASQUALE; Fiscal Year: 2010
    ..the treatment of pathologies involving elevated extracellular glutamate levels, such as epilepsy and amyotrophic lateral sclerosis (ALS)...
  17. Glutathione in mitochondrial dysfunction and disease progression in ALS-models
    Marcelo R Vargas; Fiscal Year: 2011
    ..PUBLIC HEALTH RELEVANCE: Amyotrophic lateral sclerosis (ALS) or Lou Gehrig's disease is characterized by the specific death of the nerve cells that ..
  18. Food(cassava) cyanogen exposure and motor neuron degeneration
    DANIEL DESIRE TSHALA KATUMBAY; Fiscal Year: 2010
    ..The existence of high incidence foci of motor neuron diseases among human populations (e.g. the Guam amyotrophic lateral sclerosis, konzo, and/or lathyrism) suggests that environmental factors e.g...
  19. In vivo analysis of the mechanisms of axon transport.
    Catherine M Drerup; Fiscal Year: 2011
    ..to numerous neurodevelopmental and neurodegenerative disorders, including Alzheimer's Disease, Amyotrophic Lateral Sclerosis, and Charcot-Marie Tooth Disease...
  20. Innate Immune Mechanisms of Motor Neuron Injury
    Timothy Vartanian; Fiscal Year: 2010
    ..Spastic Paraplegia, Kennedy's disease, Spinal Muscular Atrophy, Progressive Muscular Atrophy, and amyotrophic lateral sclerosis, as well as in viral diseases such as Polio, HIV, and West Nile...
  21. Genomics of RNA Editing: Identification and Regulation
    Jin Billy Li; Fiscal Year: 2013
    ..Aberrant RNA editing has been implicated in human neurological diseases such as amyotrophic lateral sclerosis, epilepsy, depression, suicide, glioma, and cancers, and may have contributed to the evolutionary ..
  22. DYNAMICS OF THE NEURONAL CYTOSKELETON IN AGING BRAIN
    Ralph A Nixon; Fiscal Year: 2013
    ..degeneration in neurofibrillary diseases, including Alzheimer's disease and related dementias, amyotrophic lateral sclerosis and related neuronopathies, Parkinson's disease and glaucoma...
  23. RNA polymerase II Elongation Complex: Structure and Function
    Daniel Reines; Fiscal Year: 2013
    ..its dysfunction results in the neurodegenerative diseases Ataxia and Ocular Apraxia (AOA) type 2 and Amyotrophic Lateral Sclerosis (ALS) type 4...
  24. Analysis of the tumor suppressor gene Tsc1 in motor neuron patterning
    Onanong Chivatakarn; Fiscal Year: 2013
    ..autonomic responses, and are profoundly affected by diseases such as spinal muscle atrophy (SMA) and amyotrophic lateral sclerosis (ALS)...
  25. ALS therapies and genomics for mutant TDP-43 and TLS/FUS
    Don W Cleveland; Fiscal Year: 2010
    ..b>Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disorder in which premature loss of upper and lower motor ..
  26. Epigenetic mechanisms of TDP43-mediated neurodegeneration
    Amit Berson; Fiscal Year: 2013
    ..We began our analysis with an established model of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS)...
  27. Neural Representation of Reach-to-Grasp for Cortical FES Neuroprostheses
    Abidemi Bolu Ajiboye; Fiscal Year: 2012
    ..have experienced high cervical spinal cord injury, or other severely paralyzing impairments, such as amyotrophic lateral sclerosis (ALS), have few options for regaining the independence needed to perform basic activities of daily ..
  28. Targeted investigation of tissue specific oxidative stress in the etiology of ALS
    Holly Van Remmen; Fiscal Year: 2013
    ..of lipid peroxide induced oxidative stress on individual tissues involved in the pathogenesis of Amyotrophic Lateral Sclerosis (ALS)...
  29. Mechanisms of assembly of photoreceptor G protein complexes
    Barry M Willardson; Fiscal Year: 2013
    ..diseases such as Alzheimer's, Parkinson's, Huntington's and Lou Gehrig's disease (amyotrophic lateral sclerosis or ALS) all result from protein misfolding in neurons...
  30. Neuroimmune modulation across the BBB: Regulation of ILS trafficking by TNF
    Weihong Pan; Fiscal Year: 2012
    ..g., Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis), and even diabetes and the metabolic syndrome...
  31. A Spontaneous Mouse Model of Motor Neuron Disease
    Kevin L Seburn; Fiscal Year: 2011
    ..Motor neuron diseases such as Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophies (SMA) are common in the population and devastating in their ..
  32. The bioorganic chemistry of RNA editing by ADARs
    Peter A Beal; Fiscal Year: 2013
    ..Perturbations in A to I editing have been observed in several human diseases including amyotrophic lateral sclerosis (ALS), dyschromatosis symmetrica hereditaria (DSH), Prader-Willi syndrome (PWS), epilepsy, depression ..
  33. Role of FUS in ALS
    Haining Zhu; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease) is a progressive and fatal neurodegenerative disease...
  34. Analysis and Therapy of Age-Dependent Proteostasis Failure in Neurodegeneration
    ROBERT JOSEPH SHMOOKLER REIS; Fiscal Year: 2013
    ..are remarkably similar to those leading to Parkinson's and Huntington's diseases, and Amyotrophic Lateral Sclerosis. Although all cells are obliged to maintain proteostatic equilibrium, neurons are at particular risk ..
  35. Small Molecule Probes for TAR DNA Binding Protein 43_TDP-43
    Allen B Reitz; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Amyotrophic lateral sclerosis (ALS, also motor neuron or Lou Gehrig's disease) and frontotemporal lobar dementia (FTLD) are debilitating neurodegenerative disorders that are now linked to TAR ..
  36. Ca2+ mishandling and ischemia-vulnerability in fALS model motor terminals
    Gavriel David; Fiscal Year: 2012
    ..that transgenically express mutated forms of human superoxide dismutase I (SOD1) that produce familial amyotrophic lateral sclerosis (fALS) develop progressive loss of motor nerve terminals that often precedes the eventual death of ..
  37. Using Drosophila as a model to understand TDP-43 function in ALS
    David B Morton; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Amyotrophic lateral sclerosis (ALS) is a devastating disease affecting about 2 in 100,000 people in the USA each year...
  38. Mitochondrial chaperones mortalin and Tid1 in protein degradation
    Carolyn K Suzuki; Fiscal Year: 2012
    ..aging, as well as a variety of human diseases, including Parkinson's disease, cystic fibrosis, amyotrophic lateral sclerosis (ALS), short chain acyl-CoA dehydrogenase (SCAD) deficiency and hypertrophic cardiomyopathy...
  39. Peroxynitrite, nitrotyrosine and HSP90 in neuronal death
    ALVARO G ESTEVEZ; Fiscal Year: 2013
    ..understand how mutations to SOD can increase oxidative stress and cause the death of motor neurons in amyotrophic lateral sclerosis (ALS)...
  40. Role of p62 in Protein Aggregation and Neurodegeneration in ALS
    Haining Zhu; Fiscal Year: 2009
    ..aggregates containing mutant copper-zinc superoxide dismutase (SOD1) are a hallmark of familial amyotrophic lateral sclerosis (ALS, Lou Gehrig's disease), an age-related neurodegenerative disease...
  41. GSK3: immunoregulator in experimental autoimmune encephalomyelitis (EAE)
    Patrizia De Sarno; Fiscal Year: 2012
    ..associated with inflammation, such as Alzheimer's disease, Parkinson's disease, and Amyotrophic Lateral Sclerosis. We found that mice pretreated with the GSK3 inhibitor lithium are completely protected from ..
  42. Clinical and Molecular Biology of Acute and Chronic Traumatic Encephalopathies
    JAMES WAVELL AIKEN; Fiscal Year: 2011
    ..major neurodegenerative diseases, such as Alzheimer's disease (AD), frontotemporal dementia, and amyotrophic lateral sclerosis. CTE is associated with accumulation of aggregated proteins or protein fragments, including tau, TDP-..
  43. Novel neurotrophic therapy in a mouse model of ALS
    Alpaslan Dedeoglu; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Amyotrophic lateral sclerosis (ALS) is an enigmatic neurodegenerative disorder characterized by the selective loss of motor neurons that results in rapid progressive motor weakness and early death ..
  44. Microanalytical methods for the detection of reactive nitrogen species
    Susan M Lunte; Fiscal Year: 2010
    ..of many neurodegenerative disorders, including Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis (ALS)...
  45. Mechanism of SIRT1 activator mediated neuroprotection of retinal ganglion cells
    Kenneth S Shindler; Fiscal Year: 2013
    ..studied SIRT1 activator, promotes neuronal survival in animal models of Huntington's Disease and Amyotrophic Lateral Sclerosis. In preliminary studies, we found that resveratrol attenuates RGC loss during optic neuritis in ..
  46. RESPIRATORY PATTERN GENERATION STUDIED IN VITRO
    Jack L Feldman; Fiscal Year: 2012
    ..Various neurodegenerative diseases, such as Parkinson's disease, multiple systems atrophy and amyotrophic lateral sclerosis, are associated with sleep disordered breathing that we hypothesize results from the loss of neurons ..
  47. Optical spectroscopy to study mitochondrial function within replicating cells
    Roger J Springett; Fiscal Year: 2010
    ..diseases including cancer, diabetes, cardiac infarction, cerebral ischemia, Alzheimer's disease, amyotrophic lateral sclerosis and sepsis...
  48. Role of ABC efflux transporters in ALS
    Davide Trotti; Fiscal Year: 2013
    ..Little is known on ABC transporters localization and regulation in amyotrophic lateral sclerosis (ALS), a neurodegenerative disease of the motor system...
  49. Neuronal RNA processing defects in ALS4 caused by SETX mutations
    Craig L Bennett; Fiscal Year: 2013
    ..gene (SETX) as the molecular basis of a juvenile-onset, autosomal dominant (AD) form of familial amyotrophic lateral sclerosis (ALS)...
  50. Translational refinement of adaptive communication system for locked-in patients
    Melanie Fried-Oken; Fiscal Year: 2013
    ..with severe speech and physical impairments (SSPI) resulting from acquired neurological disorders (amyotrophic lateral sclerosis, brainstem stroke, Parkinson's disease, multiple sclerosis, spinal cord injury) and ..
  51. Mechanism Underlying Neurodegeneration Caused by Dysfunction of Pre-mRNA Splicing
    Yichang Jia; Fiscal Year: 2012
    ..has been associated with neurodegenerative disorders, including spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS), but the underlying disease mechanisms are largely unknown...
  52. Defining a clinically relevant time point for astrocyte targeted therapy in ALS
    Brian K Kaspar; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Amyotrophic lateral sclerosis (ALS) is one of the most common neuromuscular diseases worldwide...
  53. Antisense oligonucleotides for the treatment of spinocerebellar ataxia type 2
    Daniel R Scoles; Fiscal Year: 2013
    ..in clinical trials for multiple ASOs, and ongoing clinical trials to test ASOs for the treatment of amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA)...
  54. Regulation of mitochondrial oxidative stress by Bcl-2 family proteins
    DANIEL LINSEMAN; Fiscal Year: 2011
    ..is a major factor in several neurodegenerative disorders including Parkinson's disease (PD) and amyotrophic lateral sclerosis (ALS)...
  55. The Functional Role of RBM45 in Gene Expression and Neurodegeneration
    Mahlon Collins; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Amyotrophic lateral sclerosis (ALS) is a progressive, inevitably fatal neurodegenerative disorder...
  56. Pre-clinical testing of necrostatin as a potential small molecule for the treatme
    SERGE E PRZEDBORSKI; Fiscal Year: 2012
    ..the small-molecule necrostatin-1 (Nec-1) as a potential neuroprotective agent for the treatment of amyotrophic lateral sclerosis (ALS), an incurable fatal paralytic disorder...
  57. Transgenic Study of ALS-Linked CCS Mutations
    Han Xiang Deng; Fiscal Year: 2011
    DESCRIPTION (provided by applicant): Amyotrophic lateral sclerosis (ALS) is a progressive paralytic disorder caused by degeneration of motor neurons in the brain and spinal cord...
  58. Adeno-associated Viral Vector Modification for Targeted Motor Neuron Therapy
    Nicholas M Boulis; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Motor neuron diseases (MND), such as Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA), are progressive neurodegenerative disorders that share the common characteristic of upper ..
  59. Defining the messenger RNP code in the brain
    EUGENE WEI MING YEO; Fiscal Year: 2013
    ..developmental defects, which can often manifest as fatal diseases such as Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis or life-long debilitating behavioral abnormalities such as Prader-Willi/Angelman Syndromes, ..
  60. Proinflammatory enzymes in amytrophic lateral sclerosis
    SERGE E PRZEDBORSKI; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Mutations in superoxide dismutase-1 (SOD1) cause familial amyotrophic lateral sclerosis (ALS)...
  61. Cellular and Molecular Analysis of Defects at Aging Neuromuscular Synapses
    Joshua R Sanes; Fiscal Year: 2012
    ..This result is intriguing because extraoculars are also spared in the invariably fatal disease, amyotrophic lateral sclerosis (ALS), suggesting parallel mechanisms underlying age-related and neurodegenerative defects...
  62. Transgenic Mouse Models of FUS/TLS-Mediated Amyotrophic Lateral Sclerosis
    Zuoshang Xu; Fiscal Year: 2010
    ..b>Amyotrophic lateral sclerosis (ALS, Lou Gehrig's disease) is a devastating neurodegenerative condition that kills nerve cells ..
  63. Non-linear Characterization of the Stretch Reflex Arc and its Neuromodulation
    AMAN BEHAL; Fiscal Year: 2011
    ..could (a) result in novel tools for the early detection/therapies of neuromuscular diseases such as Amyotrophic Lateral Sclerosis (ALS), (b) help explain certain pathological conditions such as spasticity that are secondary to ..
  64. Phase III Trial of Minocycline in ALS:I-Clinical Center
    Paul Gordon; Fiscal Year: 2007
    b>Amyotrophic lateral sclerosis is a progressive neurodegenerative disorder leading to death on average in 3 years (1). There is no cure or known treatment that significantly improves function...
  65. Arginase and Regulation of Nitric Oxide Synthase in ALS
    Rajiv Ratan; Fiscal Year: 2004
    DESCRIPTION (Adapted from applicant's abstract): Amyotrophic lateral sclerosis is a prevalent neurological disorder characterized by inexorable muscle weakness leading to death...
  66. Development of Natural Orifice Translumenal Endoscopic Neurostimulation
    Anthony Ignagni; Fiscal Year: 2007
    unreadable] DESCRIPTION (provided by applicant): Over thirty-eight spinal cord injury (SCI) and amyotrophic lateral sclerosis (ALS) patients have been successfully implanted with laparoscopically placed intramuscular diaphragm ..
  67. Clinical Trial of Ceftriaxone in ALS
    Merit Cudkowicz; Fiscal Year: 2004
    ..objective is to determine the safety and efficacy of long term ceftriaxone treatment in subjects with amyotrophic lateral sclerosis (ALS), a uniformly progressive, untreatable, and fatal neurodegenerative disorder...
  68. Noninvasive assessment of neuromuscular diseases using electrical impedance
    Seward B Rutkove; Fiscal Year: 2010
    ..Neuromuscular disorders, ranging from severe generalized diseases such as muscular dystrophy and amyotrophic lateral sclerosis (ALS) to localized conditions, including nerve injuries and radiculopathy, impact the lives of ..
  69. REGULATION OF SODIUM CHANNEL EXPRESSION
    ROBERT MAUE; Fiscal Year: 2000
    ..in a spectrum of neurological disorders, including familial dysautonomia, diabetic neuropathy, amyotrophic lateral sclerosis, epilepsy, Parkinson's disease, Huntington's disease, and Alzheimer's disease, and are potential ..
  70. Tilt/Recline Adjustment by Subjects with ALS using Brain Computer Interfaces
    Jane Huggins; Fiscal Year: 2009
    ..People with amyotrophic lateral sclerosis (ALS) are uniquely suited to participate in the development of clinical applications of BCIs because ..
  71. METABOTROPIC GLUTAMATE RECEPTORS IN NEURODEGENERATION
    Anne Young; Fiscal Year: 2009
    ..as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), and amyotrophic lateral sclerosis (ALS) are characterized by adult onset, progressive neurologic dysfunction, and a paucity of effective ..
  72. Beta-lactam chemical probes for GLT-1 transporter-related pathologies
    Scott M Rawls; Fiscal Year: 2010
    ..of glutamate-related neurological and pathological disorders, including such as epilepsy, stroke, amyotrophic lateral sclerosis, multiple sclerosis, depression and addiction (Rothstein et al., 2005)...
  73. Recombinant siRNA Carriers for Targeted Delivery across the Blood Brain Barrier
    DARIN YALE FURGESON; Fiscal Year: 2010
    ..are approximately 7M people suffering from Alzheimer's, Parkinson's, multiple sclerosis, amyotrophic lateral sclerosis (ALS) and Huntington's diseases alone...
  74. CSF Indicators for Diagnosis and Disease Progression of ALS
    Carol Milligan; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): In the United States, approximately 30,000 individuals have amyotrophic lateral sclerosis (ALS), with 5000 new cases being diagnosed each year...
  75. GENETIC CONTROL OF NEUROMUSCULAR DEGENERATION IN MICE
    Gregory Cox; Fiscal Year: 2002
    Degenerative motor neuron diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are devastating disorders that encompass both wide ranges of clinical severity and ages of onset...