PubRank

Michaela Auer-Grumbach

Author PubWeight™ 49.71‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 2004 3.72
2 Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am J Hum Genet 2003 3.22
3 Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet 2004 3.00
4 MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain 2006 2.77
5 Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet 2004 2.50
6 Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci 2012 1.97
7 Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet 2012 1.85
8 Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. Am J Hum Genet 2010 1.52
9 Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet 2013 1.51
10 Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain 2010 1.51
11 Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain 2009 1.44
12 Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am J Hum Genet 2010 1.42
13 Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet A 2008 1.30
14 Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Brain 2008 1.21
15 Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet 2012 1.16
16 Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat 2012 1.15
17 The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain 2004 1.13
18 Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. Arch Neurol 2007 1.12
19 Recent advances in hereditary sensory and autonomic neuropathies. Curr Opin Neurol 2006 1.09
20 Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J Neurol Sci 2007 1.04
21 Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. Hum Mutat 2011 1.03
22 A role for Rab7 in the movement of secretory granules in cytotoxic T lymphocytes. Traffic 2011 0.98
23 Hereditary spastic paraplegia 3A associated with axonal neuropathy. Arch Neurol 2007 0.97
24 Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene. Hum Mol Genet 2003 0.97
25 Genetic spectrum of hereditary neuropathies with onset in the first year of life. Brain 2011 0.93
26 Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia. Neurogenetics 2008 0.90
27 Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. J Neurol 2014 0.89
28 Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy. Neuromuscul Disord 2002 0.88
29 Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause. Hum Mutat 2007 0.87
30 Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes. Hum Genet 2003 0.84
31 Motor neuron, nerve, and neuromuscular junction disease. Curr Opin Neurol 2011 0.82
32 TRPV4 mutations in children with congenital distal spinal muscular atrophy. Neurogenetics 2012 0.81
33 SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients. Eur J Med Genet 2010 0.81
34 SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease. J Neurol 2011 0.79
35 Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations. Eur J Hum Genet 2009 0.78
36 A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes. Neurogenetics 2012 0.76
37 Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy. Pediatr Nephrol 2012 0.76
38 Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception. Nat Genet 2015 0.75
39 MLPA-based evidence for sequence gain: pitfalls in confirmation and necessity for exclusion of false positives. Anal Biochem 2011 0.75