Robert H Baloh

Summary

Affiliation: Washington University School of Medicine
Country: USA

Publications

  1. 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
  2. pmc Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation
    Robert H Baloh
    Department of Neurology, and Hope Center for Neurological Diseases, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurosci 29:2312-21. 2009
  3. ncbi request reprint Mitochondrial dynamics and peripheral neuropathy
    Robert H Baloh
    Hope Center for Neurological Disorders, Washington University, Saint Louis, Missouri 63110, USA
    Neuroscientist 14:12-8. 2008
  4. 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
  5. pmc Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex
    Albert Misko
    Department of Neurology and Hope Center for Neurological Diseases, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurosci 30:4232-40. 2010
  6. ncbi request reprint 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
  7. 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
  8. ncbi request reprint Misexpression of Pou3f1 results in peripheral nerve hypomyelination and axonal loss
    Elizabeth J Ryu
    Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurosci 27:11552-9. 2007
  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 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

Collaborators

Detail Information

Publications30

  1. 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...
  2. pmc Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation
    Robert H Baloh
    Department of Neurology, and Hope Center for Neurological Diseases, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurosci 29:2312-21. 2009
    ....
  3. ncbi request reprint Mitochondrial dynamics and peripheral neuropathy
    Robert H Baloh
    Hope Center for Neurological Disorders, Washington University, Saint Louis, Missouri 63110, USA
    Neuroscientist 14:12-8. 2008
    ....
  4. 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
    ....
  5. pmc Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex
    Albert Misko
    Department of Neurology and Hope Center for Neurological Diseases, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurosci 30:4232-40. 2010
    ....
  6. ncbi request reprint 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...
  7. 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...
  8. ncbi request reprint Misexpression of Pou3f1 results in peripheral nerve hypomyelination and axonal loss
    Elizabeth J Ryu
    Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurosci 27:11552-9. 2007
    ..Our findings establish the importance of identifying factor(s) responsible for Pou3f1 downregulation during myelination, because they may play important roles in the development of peripheral neuropathies...
  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 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...
  11. 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
    ....
  12. pmc Transgenic mice expressing the Nmnat1 protein manifest robust delay in axonal degeneration in vivo
    Yo Sasaki
    Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurosci 29:6526-34. 2009
    ..These results highlight the importance of understanding the mechanism of Nmnat-mediated axonal protection for the development of new treatment strategies for neurological disorders...
  13. 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...
  14. pmc Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease
    Jeong Sun Ju
    Department of Neurology, Washington University School of Medicine, St Louis, MO 63110, USA
    J Cell Biol 187:875-88. 2009
    ..These data implicate VCP in autophagy and suggest that impaired autophagy explains the pathology seen in IBMPFD muscle, including TDP-43 accumulation...
  15. 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...
  16. 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...
  17. 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...
  18. 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
    ....
  19. ncbi request reprint Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle
    Robert H Baloh
    Department of Neurology, Washington University School of Medicine, PO Box 8111, 660 S Euclid Ave, St Louis, MO 63110, USA
    Arch Neurol 64:998-1000. 2007
    ..To describe the clinical phenotype and genetic basis of a family with autosomal dominant progressive external ophthalmoplegia and parkinsonism from a Twinkle mutation...
  20. 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)...
  21. pmc TDP-43 A315T mutation in familial motor neuron disease
    Michael A Gitcho
    Alzheimer s Disease Research Center, Washington University School of Medicine, St Louis, MO 63110, USA
    Ann Neurol 63:535-8. 2008
    ..The discovery of a missense mutation in TDP-43 in a family with dominantly inherited motor neuron disease provides evidence of a direct link between altered TDP-43 function and neurodegeneration...
  22. 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...
  23. doi request reprint Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation
    Glenn Lopate
    Washington University School of Medicine, Department of Neurology, Saint Louis, Missouri 63110, USA
    Amyotroph Lateral Scler 11:232-6. 2010
    ..This family highlights the extreme variability in age of onset, clinical manifestations, disease progression and penetrance due to the I113T SOD1 mutation...
  24. ncbi request reprint Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations
    Robert H Baloh
    Department of Neurology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Neurosci 27:422-30. 2007
    ....
  25. 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
    ....
  26. ncbi request reprint GFRalpha1 expression in cells lacking RET is dispensable for organogenesis and nerve regeneration
    Hideki Enomoto
    Department of Pathology, Washington University School of Medicine, St Louis, MO 63110, USA
    Neuron 44:623-36. 2004
    ..Thus RET-independent GFRalpha1 is dispensable for organogenesis and nerve regeneration in vivo, indicating that trans-signaling and GFRalpha-dependent NCAM signaling play a minor role physiologically...
  27. ncbi request reprint Frequent atrophic groups with mixed-type myofibers is distinctive to motor neuron syndromes
    Robert H Baloh
    Department of Neurology, Washington University in St Louis, Box 8111, 660 South Euclid Avenue, St Louis, Missouri, USA
    Muscle Nerve 36:107-10. 2007
    ..The muscle biopsy pattern of frequent atrophic groups containing mixed fiber types should suggest a diagnosis of a motor neuron syndrome or motor neuropathy...
  28. pmc The NIMA-family kinase Nek3 regulates microtubule acetylation in neurons
    Jufang Chang
    Department of Pathology and Immunology, Washington University School of Medicine, St Louis, MO 63110, USA
    J Cell Sci 122:2274-82. 2009
    ..The deacetylation of microtubules in neurons by unphosphorylated Nek3 raises the possibility that it could have a role in disorders where axonal degeneration is an important component...
  29. pmc Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositis
    Mohammad Salajegheh
    Department of Neurology, Division of Neuromuscular Disease, Brigham and Women s Hospital, and Harvard Medical School, 75 Francis Street, Boston, Massachusetts 02115, USA
    Muscle Nerve 40:19-31. 2009
    ..TDP-43 could be one of many nucleic acid binding proteins that are abnormally present in IBM sarcoplasm. They could potentially interfere with the normal function of extranuclear RNAs that maintain myofiber protein production...
  30. ncbi request reprint Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene)
    Robert H Baloh
    Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA
    Neurology 62:1905-6. 2004