Dr. Robert Baloh, MD

• Neurology

• Neuromuscular Medicine

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• Washington University School Of Medicine

  Medical School, 2001

• MORC2Mutations Cause Axonal Charcot-Marie-Tooth Disease With Pyramidal Signs, 2016-01-13

• Genome-wide Analyses Identify KIF5A as a Novel ALS Gene, 2018-03-21

• Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology, 2021-12-06

• Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology, 2022-01-31

• ALS disrupts spinal motor neuron maturation and aging pathways within gene co-expression networks, 2016-07-18

• Sarcoplasmic Redistribution of Nuclear TDP-43 in Inclusion Body Myositis, 2009-04-21

• TDP-43: The relationship between protein aggregation and neurodegeneration in ALS and FTLD, 2011-08-24

• Association of Variants in theSPTLC1Gene With Juvenile Amyotrophic Lateral Sclerosis Association of Variants in theSPTLC1Gene With Juvenile Amyotrophic Lateral Sclerosis, 2021-08-30

• Sizing, stabilising, and cloning repeat-expansions for gene targeting constructs, 2021-07-01

• Endolysosomal sorting of ubiquitinated caveolin-1 is regulated by VCP/p97 and UBXD1 and impaired by VCP disease mutations, 2011-08-07

• Moderate intrinsic phenotypic alterations inC9orf72ALS/FTD iPSC-microglia despite the presence of C9orf72 pathological features, 2023-06-06

• Clinical Neurogenetics: Amyotrophic Lateral Sclerosis, 2013-06-03

• Exome sequencing revealsDNAJB6mutations in dominantly-inherited myopathy, 2012-02-14

• Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A, 2020-10-19

• Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation, 2009-02-25

• C9orf72 deficiency promotes microglial mediated synaptic loss in aging and amyloid accumulation, 2021-06-15

• Transgenic mice expressing the Nmnat1 protein manifest robust delay in axonal degenerationin vivo, 2009-05-20

• Mutations in theMatrin 3gene cause familial amyotrophic lateral sclerosis, 2014-03-30

• C9orf72 in myeloid cells suppresses STING-induced inflammation, 2020-08-19

• ALS onset is influenced by the burden of rare variants in known ALS genes, 2014-11-27

• Comparison of three congruent patient-specific cell types for the modelling of a human genetic Schwann-cell disorder, 2019-04-08

• Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex, 2010-03-24

• Mfn2 agonists reverse mitochondrial defects in preclinical models of Charcot Marie Tooth disease type 2A, 2018-04-20

• Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation, 2022-03-21

• Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration, 2012-03-21

• Cross-comparison of human iPSC-derived motor neuron models of familial and sporadic ALS reveals early and convergent transcriptomic disease signatures, 2020-12-30

• C9orf72BAC transgenic mice display typical pathologic features of ALS/FTD, 2015-12-02

• Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age, 2013-06-04

• Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways, 2015-02-19

• Schwann cell mitochondrial metabolism supports long-term axonal survival and peripheral nerve function, 2011-07-13

• Transplantation of human neural progenitor cells secreting GDNF into the spinal cord of patients with ALS: a phase 1/2a trial, 2022-09-05