Robert H Baloh

Summary

Affiliation: Cedars-Sinai Medical Center
Country: USA

Publications

  1. doi request reprint How do the RNA-binding proteins TDP-43 and FUS relate to amyotrophic lateral sclerosis and frontotemporal degeneration, and to each other?
    Robert H Baloh
    Neuromuscular Division, Department of Neurology, Cedars Sinai Medical Center, Los Angeles, California, USA
    Curr Opin Neurol 25:701-7. 2012
  2. pmc Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy
    M B Harms
    Department of Neurology, Hope Center for Neurological Disease, Washington University School of Medicine, St Louis, MO, USA
    Neurology 78:1714-20. 2012
  3. pmc Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes
    Janet Cady
    Department of Neurology, Washington University, St, Louis, MO
    Ann Neurol 77:100-13. 2015
  4. pmc Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones
    Maria Udan-Johns
    Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA
    Hum Mol Genet 23:157-70. 2014
  5. pmc TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis
    Janet Cady
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri
    JAMA Neurol 71:449-53. 2014
  6. pmc Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis
    Conrad C Weihl
    Department of Neurology, Hope Center for Neurologic Disorders, Washington University School of Medicine, Saint Louis, MO 63110, United States Electronic address
    Neuromuscul Disord 25:289-96. 2015
  7. pmc Autophagic vacuolar pathology in desminopathies
    Conrad C Weihl
    Department of Neurology and Hope Center for Neurologic Disorders, Washington University School of Medicine, Saint Louis, MO, USA Electronic address
    Neuromuscul Disord 25:199-206. 2015
  8. pmc Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration
    Albert L Misko
    Department of Neurology and Genetics, Washington University School of Medicine, St Louis, MO 63110, USA
    J Neurosci 32:4145-55. 2012
  9. 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
  10. pmc Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy
    Matthew B Harms
    Department of Neurology, Hope Center for Neurological Diseases, Washington University School of Medicine, St Louis, MO 63110, USA
    Ann Neurol 71:407-16. 2012

Collaborators

Detail Information

Publications23

  1. doi request reprint How do the RNA-binding proteins TDP-43 and FUS relate to amyotrophic lateral sclerosis and frontotemporal degeneration, and to each other?
    Robert H Baloh
    Neuromuscular Division, Department of Neurology, Cedars Sinai Medical Center, Los Angeles, California, USA
    Curr Opin Neurol 25:701-7. 2012
    ..This review examines the recent research developments aimed at defining the role of RNA-binding proteins (TDP-43 and FUS) in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD)...
  2. pmc Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy
    M B Harms
    Department of Neurology, Hope Center for Neurological Disease, Washington University School of Medicine, St Louis, MO, USA
    Neurology 78:1714-20. 2012
    ..To identify the gene responsible for 14q32-linked dominant spinal muscular atrophy with lower extremity predominance (SMA-LED, OMIM 158600)...
  3. pmc Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes
    Janet Cady
    Department of Neurology, Washington University, St, Louis, MO
    Ann Neurol 77:100-13. 2015
    ..To define the genetic landscape of amyotrophic lateral sclerosis (ALS) and assess the contribution of possible oligogenic inheritance, we aimed to comprehensively sequence 17 known ALS genes in 391 ALS patients from the United States...
  4. pmc Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones
    Maria Udan-Johns
    Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA
    Hum Mol Genet 23:157-70. 2014
    ....
  5. pmc TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis
    Janet Cady
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri
    JAMA Neurol 71:449-53. 2014
    ..R47H) in the microglial activating gene TREM2 was found to increase the risk of several neurodegenerative diseases, including Alzheimer disease. Whether the p.R47H variant is a risk factor for ALS is not known...
  6. pmc Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis
    Conrad C Weihl
    Department of Neurology, Hope Center for Neurologic Disorders, Washington University School of Medicine, Saint Louis, MO 63110, United States Electronic address
    Neuromuscul Disord 25:289-96. 2015
    ..Although no clear genetic etiology has been implicated in sIBM pathogenesis, our study suggests that genetic evaluation in sIBM may be clinically meaningful and lend insight into its pathomechanism. ..
  7. pmc Autophagic vacuolar pathology in desminopathies
    Conrad C Weihl
    Department of Neurology and Hope Center for Neurologic Disorders, Washington University School of Medicine, Saint Louis, MO, USA Electronic address
    Neuromuscul Disord 25:199-206. 2015
    ..Specifically, cytoskeletal derangement and the accumulation of aggregated proteins such as desmin may activate the autophagic system leading to the pathologic features of an autophagic vacuolar myopathy. ..
  8. pmc Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration
    Albert L Misko
    Department of Neurology and Genetics, Washington University School of Medicine, St Louis, MO 63110, USA
    J Neurosci 32:4145-55. 2012
    ....
  9. 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
    ....
  10. pmc Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy
    Matthew B Harms
    Department of Neurology, Hope Center for Neurological Diseases, Washington University School of Medicine, St Louis, MO 63110, USA
    Ann Neurol 71:407-16. 2012
    ..To identify the causative gene in an autosomal dominant limb-girdle muscular dystrophy (LGMD) with skeletal muscle vacuoles...
  11. pmc Sir-two-homolog 2 (Sirt2) modulates peripheral myelination through polarity protein Par-3/atypical protein kinase C (aPKC) signaling
    Bogdan Beirowski
    Department of Genetics, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 108:E952-61. 2011
    ..These results demonstrate that Sirt2 controls an essential polarity pathway in SCs during myelin assembly and provide insights into the association between intracellular metabolism and SC plasticity...
  12. pmc Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis
    Matthew B Harms
    Department of Neurology, Washington University School of Medicine, St Louis, MO, USA
    Neurobiol Aging 34:2234.e13-9. 2013
    ..Finally we also show evidence of somatic instability of the expansion size by Southern blot, with the largest expansions occurring in brain tissue...
  13. pmc Implications of the prion-related Q/N domains in TDP-43 and FUS
    Maria Udan
    Department of Neurology, Neuromuscular Division, Washington University, Saint Louis, MO, USA
    Prion 5:1-5. 2011
    ..This review discusses the potential relevance of the prion-related domains in TDP-43 and FUS in normal physiology, pathologic aggregation, and disease progression in ALS and FTLD...
  14. doi request reprint C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD
    Jacqueline G O'Rourke
    Board of Governors Regenerative Medicine Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA
    Neuron 88:892-901. 2015
    ....
  15. pmc Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion
    Dhruv Sareen
    Regenerative Medicine Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA
    Sci Transl Med 5:208ra149. 2013
    ..These data show that patient-derived motor neurons can be used to delineate pathogenic events in ALS. ..
  16. pmc TDP-43: the relationship between protein aggregation and neurodegeneration in amyotrophic lateral sclerosis and frontotemporal lobar degeneration
    Robert H Baloh
    Neuromuscular Division, Department of Neurology, Hope Center for Neurological Disorders, Washington University, Saint Louis, MO 63110, USA
    FEBS J 278:3539-49. 2011
    ..This review discusses observations from human pathology, cell culture and animal model systems, to highlight our somewhat murky understanding of the relationship between TDP-43 aggregation and neurodegeneration...
  17. pmc Clinical neurogenetics: amyotrophic lateral sclerosis
    Matthew B Harms
    Neuromuscular Division, Department of Neurology, Hope Center for Neurological Disorders, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA Electronic address
    Neurol Clin 31:929-50. 2013
    ....
  18. pmc TDP-43-based animal models of neurodegeneration: new insights into ALS pathology and pathophysiology
    Iga Wegorzewska
    Neuromuscular Division, Department of Neurology, Washington University, Saint Louis, MO 63110, USA
    Neurodegener Dis 8:262-74. 2011
    ..This review will compare the features of numerous recently developed animal models of TDP-43-related neurodegeneration, and discuss how they contribute to our understanding of the pathogenesis of human ALS and FTLD...
  19. pmc Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy
    Mariacristina Scoto
    From the Dubowitz Neuromuscular Center M S, M C, S R, A Y M, A R F, C S, R P, F M and MRC Center for Neuromuscular Diseases F M, UCL Institute of Child Health, London MRC Center for Neuromuscular Diseases A M R, M M R, UCL Institute of Neurology, Queen Square, London, UK Neuromuscular Division M B H, A M C, M T A L, Department of Neurology, Washington University School of Medicine, St Louis, MO Research Center for Genetic Medicine S C, Children s National Medical Center, Washington, DC Galdakao Usansolo Hospital A M A, A R S, Department of Neurology, Barrio Labeaga s n, Usansolo, Vizcaya, Spain St George s NHS Health Care Trust S M, P F, I H, London, UK Department of Paediatric Neurology A K, University Children s Hospital, Zurich, Switzerland Department of Pediatrics M Y, Taiwan
    Neurology 84:668-79. 2015
    ..To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene...
  20. pmc Low-Dose Irradiation Enhances Gene Targeting in Human Pluripotent Stem Cells
    Seigo Hatada
    Board of Governors, Regenerative Medicine Institute, Department of Biomedical Sciences, iPSC Core, The David and Janet Polak Foundation Stem Cell Core Laboratory, Genomics Core Facility, Department of Surgery, and Department of Neurology, Cedars Sinai Medical Center, Los Angeles, California, USA
    Stem Cells Transl Med 4:998-1010. 2015
    ..This simple method allows higher throughput of new, targeted hPSC lines that are crucial to expand the use of disease modeling and to develop novel avenues of cell therapy...
  21. pmc Novel GNE mutations in two phenotypically distinct HIBM2 patients
    Conrad C Weihl
    Department of Neurology and Hope Center for Neurological Disorders, Washington University School of Medicine, 660 S Euclid Avenue, Saint Louis, MO 63110, USA
    Neuromuscul Disord 21:102-5. 2011
    ..His muscle biopsy showed prominent necrosis without rimmed vacuoles. This study expands the phenotype and illustrates the clinical spectrum of HIBM2 identified in a U.S. based neuromuscular clinic...
  22. pmc Interaction with polyglutamine aggregates reveals a Q/N-rich domain in TDP-43
    Rodrigo A Fuentealba
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Biol Chem 285:26304-14. 2010
    ....
  23. pmc Schwann cell mitochondrial metabolism supports long-term axonal survival and peripheral nerve function
    Andreu Viader
    Department of Genetics, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurosci 31:10128-40. 2011
    ..Mitochondrial function in SCs is therefore essential for maintenance of axonal survival and normal peripheral nerve function, suggesting that SC mitochondrial dysfunction contributes to human peripheral neuropathies...