Published in Neuromuscul Disord on February 01, 2002
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet (2002) 2.14
Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet (2003) 2.11
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet (2006) 1.73
Congenital myopathies: an update. Curr Neurol Neurosci Rep (2012) 1.66
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat (2009) 1.54
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet (2013) 1.46
Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene. Hum Genet (2004) 1.41
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet (2010) 1.32
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia. Hum Mutat (2012) 1.25
Dynamic regulation of sarcomeric actin filaments in striated muscle. Cytoskeleton (Hoboken) (2010) 1.17
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. J Clin Invest (2014) 1.13
Neb: a zebrafish model of nemaline myopathy due to nebulin mutation. Dis Model Mech (2011) 1.12
Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation. J Physiol (2008) 1.11
Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres. J Physiol (2007) 1.08
Mutation update: the spectra of nebulin variants and associated myopathies. Hum Mutat (2014) 1.06
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype. Acta Neuropathol Commun (2014) 1.04
Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients. Hum Mol Genet (2013) 1.03
Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy. Skelet Muscle (2011) 0.98
Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. Brain (2013) 0.93
Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy. Dis Model Mech (2015) 0.93
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. Am J Hum Genet (2016) 0.91
Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations. Skelet Muscle (2014) 0.90
Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function. Acta Neuropathol (2015) 0.85
Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression. PLoS One (2011) 0.84
TPM2 mutation. Neuromuscul Disord (2008) 0.83
Expression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells. BMC Musculoskelet Disord (2012) 0.83
Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness. PLoS One (2012) 0.82
Clinical utility gene card for: nemaline myopathy. Eur J Hum Genet (2012) 0.81
Sudden cardiac arrest in a child with nemaline myopathy. Ital J Pediatr (2015) 0.80
Clinical utility gene card for: Nemaline myopathy - update 2015. Eur J Hum Genet (2015) 0.79
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE. BMC Med Genet (2011) 0.79
Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures. PLoS One (2013) 0.77
Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy. Dis Model Mech (2014) 0.77
A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy. J Neuromuscul Dis (2015) 0.77
Fast skeletal muscle troponin activation increases force of mouse fast skeletal muscle and ameliorates weakness due to nebulin-deficiency. PLoS One (2013) 0.76
Thick and thin filament gene mutations in striated muscle diseases. Int J Mol Sci (2008) 0.76
Clinical heterogeneity in Korean patients with nemaline myopathy. Yonsei Med J (2010) 0.75
A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features. J Appl Genet (2016) 0.75
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet (2009) 4.38
Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. Neurology (2012) 3.61
Cervical collar or physiotherapy versus wait and see policy for recent onset cervical radiculopathy: randomised trial. BMJ (2009) 2.98
119th ENMC international workshop: trial design in adult idiopathic inflammatory myopathies, with the exception of inclusion body myositis, 10-12 October 2003, Naarden, The Netherlands. Neuromuscul Disord (2004) 2.85
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet (2012) 2.82
Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? J Mol Med (Berl) (2004) 2.81
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. Lancet Neurol (2010) 2.60
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Neuronal loss and brain atrophy in mice lacking cathepsins B and L. Proc Natl Acad Sci U S A (2002) 2.54
Centronuclear (myotubular) myopathy. Orphanet J Rare Dis (2008) 2.53
Lyme disease--current state of knowledge. Dtsch Arztebl Int (2009) 2.53
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet (2007) 2.48
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis (2012) 2.28
A long-term prospective study of the natural course of sporadic adult-onset lower motor neuron syndromes. Arch Neurol (2009) 2.17
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. Brain (2014) 2.16
Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes. Am J Med Genet A (2005) 2.16
Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology. J Neurol Neurosurg Psychiatry (2011) 2.08
Is the Frontal Assessment Battery reliable in ALS patients? Amyotroph Lateral Scler Frontotemporal Degener (2012) 2.06
Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul Disord (2007) 2.00
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol (2006) 1.98
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics (2005) 1.88
Lifetime physical activity and the risk of amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry (2013) 1.86
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet (2010) 1.81
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet (2006) 1.73
Neonatal DNA methylation profile in human twins is specified by a complex interplay between intrauterine environmental and genetic factors, subject to tissue-specific influence. Genome Res (2012) 1.73
The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. Neuromuscul Disord (2009) 1.70
Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status. Hum Mol Genet (2004) 1.66
Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases. Neurology (2012) 1.62
Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum Mol Genet (2012) 1.62
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat (2006) 1.61
Human pathology in NCL. Biochim Biophys Acta (2012) 1.55
Vocal cord dysfunction in amyotrophic lateral sclerosis: four cases and a review of the literature. Arch Neurol (2009) 1.54
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat (2009) 1.54
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscul Disord (2004) 1.52
Genotype-phenotype correlations in X-linked myotubular myopathy. Neuromuscul Disord (2002) 1.51
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet (2004) 1.50
Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts. Eur J Hum Genet (2004) 1.47
Cardiac and pulmonary investigations in Bethlem myopathy. Arch Neurol (2006) 1.47
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet (2013) 1.46
Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain (2007) 1.46
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol (2011) 1.45
Global democratic consensus on neuropathological disease criteria. Lancet Neurol (2002) 1.44
Horizontal head titubation in infants with Joubert syndrome: a new finding. Dev Med Child Neurol (2014) 1.40
A randomized sequential trial of creatine in amyotrophic lateral sclerosis. Ann Neurol (2003) 1.39
Longitudinal, genome-scale analysis of DNA methylation in twins from birth to 18 months of age reveals rapid epigenetic change in early life and pair-specific effects of discordance. Genome Biol (2013) 1.36
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. Acta Neuropathol (2010) 1.34
In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. Eur J Hum Genet (2008) 1.34
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain (2013) 1.29
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat (2012) 1.25
The natural history of Charcot-Marie-Tooth type 1A in adults: a 5-year follow-up study. Brain (2009) 1.25
Large genomic rearrangements and germline epimutations in Lynch syndrome. Int J Cancer (2009) 1.24
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest (2014) 1.24
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord (2003) 1.23
Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations. Oncogene (2005) 1.22
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet (2013) 1.20
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Ann Neurol (2004) 1.20
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis (2012) 1.19
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord (2002) 1.19
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. Am J Med Genet (2002) 1.18
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. Hum Mutat (2009) 1.18
Mutations in the nebulin gene can cause severe congenital nemaline myopathy. Neuromuscul Disord (2002) 1.15
Epigenetic signatures of familial cancer are characteristic of tumor type and family category. Cancer Res (2008) 1.15
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain. Hum Mutat (2006) 1.14
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat (2008) 1.14
Upper and extra-motoneuron involvement in early motoneuron disease: a diffusion tensor imaging study. Brain (2011) 1.13
Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial. BMC Med (2009) 1.12
Intermediate filament diseases: desminopathy. Adv Exp Med Biol (2008) 1.11
Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy. FASEB J (2011) 1.10
Smoking, alcohol consumption, and the risk of amyotrophic lateral sclerosis: a population-based study. Am J Epidemiol (2012) 1.10
Copy number alterations of the polycomb gene BMI1 in gliomas. Acta Neuropathol (2008) 1.09
FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands. Arch Neurol (2010) 1.08
Mutation update: the spectra of nebulin variants and associated myopathies. Hum Mutat (2014) 1.06
Prior medical conditions and the risk of amyotrophic lateral sclerosis. J Neurol (2014) 1.05
M2 polarized macrophages and giant cells contribute to myofibrosis in neuromuscular sarcoidosis. Am J Pathol (2011) 1.05
Disease course and prognostic factors of progressive muscular atrophy. Arch Neurol (2007) 1.05
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. Eur J Hum Genet (2011) 1.04
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype. Acta Neuropathol Commun (2014) 1.04
Inclusion body myositis. Clinical features and clinical course of the disease in 64 patients. J Neurol (2005) 1.04
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromuscul Disord (2003) 1.04
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study. Orphanet J Rare Dis (2012) 1.03
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
Images in cardiovascular medicine. Giant right atrium in the setting of desmin-related restrictive cardiomyopathy. Circulation (2006) 1.02
The cognitive profile of amyotrophic lateral sclerosis: A meta-analysis. Amyotroph Lateral Scler (2010) 1.01
Lovastatin in X-linked adrenoleukodystrophy. N Engl J Med (2010) 1.01
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. Orphanet J Rare Dis (2014) 1.00
Comparison of weakness progression in inclusion body myositis during treatment with methotrexate or placebo. Ann Neurol (2002) 0.99
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. Eur J Hum Genet (2008) 0.99
Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy. Skelet Muscle (2011) 0.98
Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Am J Med Genet A (2006) 0.98