Published in Hum Mutat on July 01, 2004
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. J Med Genet (2005) 1.15
Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance. Neuromuscul Disord (2008) 1.09
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. Am J Pathol (2006) 1.07
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A. Eur J Hum Genet (2008) 0.91
Calpain-3 mutations in Turkey. Eur J Pediatr (2006) 0.88
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations. J Med Genet (2006) 0.85
Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients. PLoS One (2014) 0.83
Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling. PLoS One (2010) 0.83
Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A. J Med Genet (2007) 0.81
Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy. J Korean Med Sci (2007) 0.81
Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy. Acta Myol (2014) 0.81
A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients. Neurogenetics (2007) 0.79
Analysis of calpain-3 protein in muscle biopsies of different muscular dystrophies from India. Indian J Med Res (2012) 0.78
Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China. Neural Regen Res (2013) 0.78
Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review). Mol Med Rep (2014) 0.78
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. BMC Neurol (2014) 0.78
Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations. Yonsei Med J (2016) 0.77
Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene. Ann Indian Acad Neurol (2016) 0.75
Oxidative DNA damage in peripheral leukocytes of mild cognitive impairment and AD patients. Neurobiol Aging (2005) 4.88
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet (1998) 4.38
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. Neurology (2010) 3.37
The human HOX gene family. Nucleic Acids Res (1989) 3.13
Paroxysmal atrial fibrillation in myotonic dystrophy type 1 patients: P wave duration and dispersion analysis. Eur Rev Med Pharmacol Sci (2015) 2.86
MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. Proc Natl Acad Sci U S A (1992) 2.82
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet (1991) 2.79
A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo. EMBO J (1993) 2.73
Correlating phenotype and genotype in the periodic paralyses. Neurology (2004) 2.55
Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet (1995) 2.53
MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol (1992) 2.48
Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: a new syndrome. Science (1973) 2.34
Fingerprint body myopathy, a newly recognized congenital muscle disease. Mayo Clin Proc (1972) 2.34
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology (2009) 2.33
APOE and Alzheimer disease: a major gene with semi-dominant inheritance. Mol Psychiatry (2011) 2.31
The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy. Int J Cardiol (1990) 2.29
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet (1996) 2.22
Reliability of the North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord (2009) 2.13
Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study. Neurology (2011) 2.06
Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochem Biophys Res Commun (1995) 2.06
Clinical and biochemical features of muscle dysfunction in subclinical hypothyroidism. J Clin Endocrinol Metab (1997) 2.04
Differential regulation by retinoic acid of the homeobox genes of the four HOX loci in human embryonal carcinoma cells. Mech Dev (1991) 2.04
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. Neurology (2005) 1.90
Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum Mol Genet (1995) 1.89
Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med (1997) 1.82
Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology (1989) 1.81
Causative and susceptibility genes for Alzheimer's disease: a review. Brain Res Bull (2003) 1.76
Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: evidence of subclinical myogenic myopathy. J Am Coll Cardiol (1989) 1.76
Cerebellar ataxia and coenzyme Q10 deficiency. Neurology (2003) 1.73
Identification of the Syrian hamster cardiomyopathy gene. Hum Mol Genet (1997) 1.63
Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei. Neurology (1995) 1.62
Retrospective study on PET-SPECT imaging in a large cohort of myotonic dystrophy type 1 patients. Neurol Sci (2010) 1.58
Research against incurability. Treatment of lethal neuromuscular diseases focused on Duchenne Muscular Dystrophy. Acta Myol (2004) 1.55
Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy. Circulation (1996) 1.54
Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results. Acta Myol (2003) 1.48
Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nat Genet (1996) 1.47
Searches for Lepton flavor violation in the decays tau{+/-}-->e{+/-}gamma and tau{+/-}-->mu{+/-}gamma. Phys Rev Lett (2010) 1.44
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. Neurology (1998) 1.42
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum Mol Genet (1996) 1.42
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Hum Mol Genet (1996) 1.39
An atypical presentation of sporadic adult-onset centronuclear myopathy. Clin Neuropathol (2007) 1.39
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV. Am J Hum Genet (1999) 1.36
Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA (1996) 1.36
Cardiac involvement in Becker muscular dystrophy. J Am Coll Cardiol (1993) 1.36
Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet (2009) 1.35
Orthopedia, a novel homeobox-containing gene expressed in the developing CNS of both mouse and Drosophila. Neuron (1994) 1.33
Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2). Neuromuscul Disord (2003) 1.33
Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy. J Am Coll Cardiol (1995) 1.33
Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism. J Clin Pathol (2005) 1.31
A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy. Muscle Nerve (2000) 1.30
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum Mol Genet (1996) 1.29
Evaluation of the cardiomyopathy in Becker muscular dystrophy. Muscle Nerve (1995) 1.27
Muscle pathology in dysferlin deficiency. Neuropathol Appl Neurobiol (2002) 1.27
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet (1996) 1.24
Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromuscul Disord (1997) 1.24
Caspase 3 expression correlates with skeletal muscle apoptosis in Duchenne and facioscapulo human muscular dystrophy. A potential target for pharmacological treatment? J Neuropathol Exp Neurol (2001) 1.21
A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum Mol Genet (1996) 1.21
Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease. Mol Psychiatry (2012) 1.20
Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes. Neurology (2009) 1.20
Cardiac and respiratory involvement in advanced stage Duchenne muscular dystrophy. Neuromuscul Disord (1996) 1.19
Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry (2008) 1.19
TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations. Eur J Neurol (2009) 1.18
Interaction of vault particles with estrogen receptor in the MCF-7 breast cancer cell. J Cell Biol (1998) 1.16
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. J Med Genet (2005) 1.15
Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. Neuromuscul Disord (2001) 1.14
Human HOX genes are differentially activated by retinoic acid in embryonal carcinoma cells according to their position within the four loci. Cell Differ Dev (1990) 1.13
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology (2001) 1.13
EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia. Eur J Neurol (2010) 1.13
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J Med Genet (2003) 1.13
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. J Neurol (2011) 1.11
The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII). Cell Death Differ (2012) 1.11
MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells. Biochem Biophys Res Commun (1995) 1.11
Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells. J Biol Chem (2000) 1.10
Evidence for an excess of B→D*τ(-)ν(τ) decays. Phys Rev Lett (2012) 1.10
Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients. J Med Genet (1992) 1.10
Observation of time-reversal violation in the B0 meson system. Phys Rev Lett (2012) 1.09
Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy. Ann Neurol (1991) 1.09
Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families. Neuromuscul Disord (2000) 1.09
Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome. N Engl J Med (1980) 1.09