PubRank

Lev G Goldfarb

Author PubWeight™ 46.36‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 2003 3.55
2 Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci 2006 1.87
3 Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain 2005 1.63
4 Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation. Int J Cardiol 2006 1.62
5 Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment. Muscle Nerve 2003 1.50
6 Allelic variation at alcohol metabolism genes ( ADH1B, ADH1C, ALDH2) and alcohol dependence in an American Indian population. Hum Genet 2003 1.39
7 Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet 2010 1.38
8 Myotilinopathy: refining the clinical and myopathological phenotype. Brain 2005 1.37
9 Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23. Brain 2006 1.29
10 Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul Disord 2010 1.25
11 Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations. Neuromuscul Disord 2003 1.17
12 Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. Hum Mutat 2006 1.14
13 Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. Brain 2012 1.12
14 Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population. Anesthesiology 2005 1.10
15 Family clustering of Viliuisk encephalomyelitis in traditional and new geographic regions. Emerg Infect Dis 2007 1.08
16 Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins. BMC Neurol 2013 1.07
17 Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy. Ann Neurol 2002 1.07
18 Viliuisk encephalomyelitis: intrathecal synthesis of oligoclonal IgG. J Neurol Sci 2003 1.06
19 A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin. J Neurol 2004 1.03
20 Images in cardiovascular medicine. Giant right atrium in the setting of desmin-related restrictive cardiomyopathy. Circulation 2006 1.02
21 Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient. Neuromuscul Disord 2008 1.02
22 Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies. FEBS Lett 2005 1.00
23 Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. Neuromuscul Disord 2011 0.99
24 In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. Eur J Hum Genet 2008 0.97
25 Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation. Neuromuscul Disord 2006 0.93
26 Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy. Hum Genet 2003 0.93
27 The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation. Acta Neuropathol 2005 0.93
28 Filamin C-related myopathies: pathology and mechanisms. Acta Neuropathol 2012 0.93
29 Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin. Neuromuscul Disord 2009 0.92
30 Gerstmann-Sträussler-Scheinker: a new phenotype with 'curly' PrP deposits. J Neuropathol Exp Neurol 2006 0.92
31 Nemaline myopathy type 6: clinical and myopathological features. Muscle Nerve 2010 0.89
32 Myofibrillar myopathies: new developments. Curr Opin Neurol 2013 0.89
33 Different early pathogenesis in myotilinopathy compared to primary desminopathy. Neuromuscul Disord 2006 0.86
34 Kuru: genes, cannibals and neuropathology. J Neuropathol Exp Neurol 2012 0.84
35 Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. Muscle Nerve 2012 0.84
36 DNA sequencing errors in molecular diagnostics of filamin myopathy. Clin Chem Lab Med 2010 0.83
37 Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations. Autophagy 2012 0.81
38 Genetic variants in potassium channels are associated with type 2 diabetes in a Mongolian population. J Diabetes 2012 0.81
39 Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain. Eur Neurol 2012 0.78
40 Dominant-negative effects of a novel mutation in the filamin myopathy. Neurology 2010 0.78
41 Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama disease. Amyotroph Lateral Scler 2010 0.78
42 Epidemiology of Viliuisk encephalomyelitis in Eastern Siberia. Epidemiology 2010 0.78