ROBERT HARRIS BALOH

Summary

Affiliation: Washington University School of Medicine
Country: USA

Publications

  1. ncbi 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
  2. ncbi 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
  3. 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
  4. 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
  5. doi 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
  6. ncbi 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
  7. ncbi 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
  8. 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
  9. 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
  10. 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

Research Grants

Collaborators

Detail Information

Publications16

  1. ncbi 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
    ....
  2. ncbi 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...
  3. 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
    ....
  4. 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
    ....
  5. doi 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...
  6. ncbi 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
    ....
  7. ncbi 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...
  8. 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...
  9. 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...
  10. 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
    ....
  11. ncbi 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
  12. 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...
  13. 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...
  14. ncbi 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...
  15. 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
    ....
  16. ncbi 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...

Research Grants3

  1. Mechanism of Peripheral Neuropathy from Mitofusin 2 Mutations
    Robert Baloh; Fiscal Year: 2007
    ....
  2. DEFINING THE MECHANISM OF TDP-43 RELATED NEURODEGENERATION
    ROBERT HARRIS BALOH; Fiscal Year: 2010
    ..We have developed a new mouse model of this disease, and are using it to better understand what causes nerve cells to degenerate in ALS, in order to design and test new treatments for the disease. ..