PubRank

Robert H Baloh

Author PubWeight™ 50.04‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 2008 5.58
2 TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration. Proc Natl Acad Sci U S A 2009 4.18
3 Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease. J Cell Biol 2009 3.50
4 Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration. Proc Natl Acad Sci U S A 2013 2.95
5 Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion. Sci Transl Med 2013 2.89
6 Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex. J Neurosci 2010 2.55
7 Anemia, paresthesias, and gait ataxia in a 57-year-old denture wearer. Clin Chem 2011 2.02
8 Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations. Nat Cell Biol 2011 1.69
9 Transgenic mice expressing the Nmnat1 protein manifest robust delay in axonal degeneration in vivo. J Neurosci 2009 1.69
10 Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositis. Muscle Nerve 2009 1.57
11 Interaction with polyglutamine aggregates reveals a Q/N-rich domain in TDP-43. J Biol Chem 2010 1.47
12 Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol 2012 1.35
13 Sir-two-homolog 2 (Sirt2) modulates peripheral myelination through polarity protein Par-3/atypical protein kinase C (aPKC) signaling. Proc Natl Acad Sci U S A 2011 1.29
14 Implications of the prion-related Q/N domains in TDP-43 and FUS. Prion 2011 1.25
15 Deciphering amyotrophic lateral sclerosis: what phenotype, neuropathology and genetics are telling us about pathogenesis. Amyotroph Lateral Scler Frontotemporal Degener 2013 1.21
16 TDP-43-based animal models of neurodegeneration: new insights into ALS pathology and pathophysiology. Neurodegener Dis 2010 1.19
17 Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration. J Neurosci 2012 1.18
18 Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes. Ann Neurol 2014 1.15
19 Schwann cell mitochondrial metabolism supports long-term axonal survival and peripheral nerve function. J Neurosci 2011 1.15
20 Misexpression of Pou3f1 results in peripheral nerve hypomyelination and axonal loss. J Neurosci 2007 1.13
21 Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis. Neurobiol Aging 2013 1.08
22 GFRalpha1 expression in cells lacking RET is dispensable for organogenesis and nerve regeneration. Neuron 2004 1.04
23 Structure of artemin complexed with its receptor GFRalpha3: convergent recognition of glial cell line-derived neurotrophic factors. Structure 2006 1.02
24 Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones. Hum Mol Genet 2013 0.99
25 Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age. Neurobiol Dis 2013 0.96
26 Clinical neurogenetics: amyotrophic lateral sclerosis. Neurol Clin 2013 0.96
27 The NIMA-family kinase Nek3 regulates microtubule acetylation in neurons. J Cell Sci 2009 0.94
28 Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease. FASEB J 2011 0.90
29 Novel GNE mutations in two phenotypically distinct HIBM2 patients. Neuromuscul Disord 2010 0.85
30 Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation. Amyotroph Lateral Scler 2010 0.84
31 A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. Am J Hum Genet 2013 0.81
32 Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene. J Neurol Sci 2005 0.75
33 Genetic evaluation of inherited muscle diseases. Continuum (Minneap Minn) 2011 0.75