Published in Brain on September 23, 2005
Aberrant repair and fibrosis development in skeletal muscle. Skelet Muscle (2011) 2.41
Structure and function of the skeletal muscle extracellular matrix. Muscle Nerve (2011) 2.00
Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets. PLoS One (2013) 1.44
Role of TGF-β signaling in inherited and acquired myopathies. Skelet Muscle (2011) 1.28
Biglycan recruits utrophin to the sarcolemma and counters dystrophic pathology in mdx mice. Proc Natl Acad Sci U S A (2010) 1.24
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TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle. J Pathol (2012) 0.93
The proteoglycan biglycan enhances antigen-specific T cell activation potentially via MyD88 and TRIF pathways and triggers autoimmune perimyocarditis. J Immunol (2011) 0.92
Defects in glycosylation impair satellite stem cell function and niche composition in the muscles of the dystrophic Large(myd) mouse. Stem Cells (2012) 0.92
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Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature. Neurobiol Dis (2012) 0.85
Exploiting the full power of temporal gene expression profiling through a new statistical test: application to the analysis of muscular dystrophy data. BMC Bioinformatics (2006) 0.80
Concurrent Label-Free Mass Spectrometric Analysis of Dystrophin Isoform Dp427 and the Myofibrosis Marker Collagen in Crude Extracts from mdx-4cv Skeletal Muscles. Proteomes (2015) 0.80
Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders. Neuromuscul Disord (2008) 0.77
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Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. Brain (2016) 0.75
A new mutation in the KIT ATP pocket causes acquired resistance to imatinib in a gastrointestinal stromal tumor patient. Gastroenterology (2004) 3.61
Mesenchymal stem cells effectively modulate pathogenic immune response in experimental autoimmune encephalomyelitis. Ann Neurol (2007) 2.64
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature (2005) 2.42
Recommendations for myasthenia gravis clinical trials. Muscle Nerve (2012) 2.28
Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. Brain (2006) 2.22
Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice. Hum Mol Genet (2007) 2.18
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy. Neuromuscul Disord (2010) 2.14
Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells. Nat Protoc (2012) 2.12
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med (2009) 2.06
Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol (2009) 2.03
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. Am J Hum Genet (2012) 1.88
Video-assisted thoracoscopic extended thymectomy and extended transsternal thymectomy (T-3b) in non-thymomatous myasthenia gravis patients: remission after 6 years of follow-up. J Neurol Sci (2003) 1.81
Transplantation of genetically corrected human iPSC-derived progenitors in mice with limb-girdle muscular dystrophy. Sci Transl Med (2012) 1.78
PDGFRA immunostaining can help in the diagnosis of gastrointestinal stromal tumors. Am J Surg Pathol (2008) 1.65
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat (2006) 1.61
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet (2012) 1.60
Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes. Neuromuscul Disord (2012) 1.59
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation. Neurology (2013) 1.55
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am J Hum Genet (2010) 1.53
Prevention of extubation failure in high-risk patients with neuromuscular disease. J Crit Care (2011) 1.48
Immunomodulation of TGF-beta 1 in mdx mouse inhibits connective tissue proliferation in diaphragm but increases inflammatory response: implications for antifibrotic therapy. J Neuroimmunol (2006) 1.45
Reliability of hand-held dynamometry in spinal muscular atrophy. Muscle Nerve (2002) 1.43
Ultrastructural changes in LGMD1F. Neuropathology (2012) 1.43
Importance of Shank3 protein in regulating metabotropic glutamate receptor 5 (mGluR5) expression and signaling at synapses. J Biol Chem (2011) 1.40
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat (2008) 1.39
Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice. Hum Mol Genet (2008) 1.37
Myasthenia gravis (MG): epidemiological data and prognostic factors. Ann N Y Acad Sci (2003) 1.37
Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study. J Neuroimmunol (2003) 1.35
Molecular and biochemical analyses of platelet-derived growth factor receptor (PDGFR) B, PDGFRA, and KIT receptors in chordomas. Clin Cancer Res (2006) 1.35
24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy. PLoS One (2013) 1.34
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Hum Genet (2011) 1.33
Gene expression profiling in dysferlinopathies using a dedicated muscle microarray. Hum Mol Genet (2002) 1.32
Human skeletal muscle atrophy in amyotrophic lateral sclerosis reveals a reduction in Akt and an increase in atrogin-1. FASEB J (2006) 1.31
Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene. Genomics (2002) 1.30
Sunitinib malate and figitumumab in solitary fibrous tumor: patterns and molecular bases of tumor response. Mol Cancer Ther (2010) 1.29
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. J Neurol (2011) 1.28
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1. Am J Hum Genet (2013) 1.25
Identification of novel mutations in five patients with mitochondrial encephalomyopathy. Biochim Biophys Acta (2008) 1.22
Novel CLCN1 mutations with unique clinical and electrophysiological consequences. Brain (2002) 1.22
Cyclooxygenase-2 and platelet-derived growth factor receptors as potential targets in treating aggressive fibromatosis. Clin Cancer Res (2007) 1.21
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function. Hum Mol Genet (2008) 1.20
Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. J Neurol Sci (2007) 1.20
Treatment relevant target immunophenotyping of 139 salivary gland carcinomas (SGCs). Oral Oncol (2009) 1.19
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy. Neurology (2012) 1.17
Gastrointestinal stromal tumor of the rectum: results of surgical and multimodality therapy in the era of imatinib. Ann Surg Oncol (2012) 1.16
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. Eur J Hum Genet (2011) 1.16
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score. Muscle Nerve (2010) 1.15
Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients. J Transl Med (2010) 1.13
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet (2013) 1.13
Detection of overexpressed and phosphorylated wild-type kit receptor in surgical specimens of small cell lung cancer. Clin Cancer Res (2004) 1.13
Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis. Arch Neurol (2010) 1.13
Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice. Hum Mol Genet (2003) 1.12
High-grade sarcomatous overgrowth in solitary fibrous tumors: a clinicopathologic study of 10 cases. Am J Surg Pathol (2012) 1.11
New mutations in TK2 gene associated with mitochondrial DNA depletion. Pediatr Neurol (2006) 1.11
Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy. Antioxid Redox Signal (2011) 1.10
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? J Neurol (2013) 1.09
Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels. J Neurol (2002) 1.09
A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III. Neuromuscul Disord (2002) 1.08
Dermatofibrosarcoma protuberans-derived fibrosarcoma: clinical history, biological profile and sensitivity to imatinib. Int J Cancer (2011) 1.08
Myelo-optico-neuropathy in copper deficiency occurring after partial gastrectomy. Do small bowel bacterial overgrowth syndrome and occult zinc ingestion tip the balance? J Neurol (2007) 1.07
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord (2007) 1.07
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
Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency. Neurology (2008) 1.07
Motor function-muscle strength relationship in spinal muscular atrophy. Muscle Nerve (2004) 1.07
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. PLoS One (2013) 1.07
Impaired oxygen extraction in metabolic myopathies: detection and quantification by near-infrared spectroscopy. Muscle Nerve (2007) 1.06
Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. Am J Pathol (2003) 1.05
The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. Neuromuscul Disord (2005) 1.05
Targeted therapy in GIST: in silico modeling for prediction of resistance. Nat Rev Clin Oncol (2011) 1.05
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. Brain (2013) 1.05
Analysis of receptor tyrosine kinases (RTKs) and downstream pathways in chordomas. Neuro Oncol (2010) 1.04
MRI predictors of long-term evolution in amyotrophic lateral sclerosis. Eur J Neurosci (2010) 1.03
Divergent brain network connectivity in amyotrophic lateral sclerosis. Neurobiol Aging (2012) 1.03
Risk of arrhythmias in myotonic dystrophy: trial design of the RAMYD study. J Cardiovasc Med (Hagerstown) (2009) 1.03
Alterations in osteopontin modify muscle size in females in both humans and mice. Med Sci Sports Exerc (2013) 1.03
KIT/Val654 Ala receptor detected in one imatinib-resistant GIST patient. Cancer Res (2005) 1.03
Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders. Mitochondrion (2011) 1.03
Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy. BMC Med (2009) 1.02