Published in Lancet on November 28, 2009
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med (2014) 1.30
Pathophysiology of arrhythmogenic cardiomyopathy. Nat Rev Cardiol (2011) 1.25
Improvement of cardiac contractile function by peptide-based inhibition of NF-κB in the utrophin/dystrophin-deficient murine model of muscular dystrophy. J Transl Med (2011) 0.90
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development. Orphanet J Rare Dis (2015) 0.88
Zebrafish models flex their muscles to shed light on muscular dystrophies. Dis Model Mech (2012) 0.86
Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapies. Clin Biochem Rev (2011) 0.83
Proinflammatory signals and the loss of lymphatic vessel hyaluronan receptor-1 (LYVE-1) in the early pathogenesis of laminin alpha2-deficient skeletal muscle. J Histochem Cytochem (2011) 0.82
Autonomic, locomotor and cardiac abnormalities in a mouse model of muscular dystrophy: targeting the renin-angiotensin system. Exp Physiol (2013) 0.78
Treatment of facioscapulohumeral muscular dystrophy with Denosumab. Am J Case Rep (2012) 0.75
Looking Forward to New Therapies: A Personal Perspective on the Translational Landscape for Muscular Dystrophies. J Neuromuscul Dis (2015) 0.75
Novel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agents. Appl Clin Genet (2011) 0.75
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol (2009) 5.35
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature (2002) 5.21
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain (2006) 3.16
Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain (2012) 3.02
A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy. Ann Neurol (2008) 2.95
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain (2007) 2.88
Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet (2007) 2.48
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet (2005) 2.38
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain (2009) 2.38
Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet (2005) 2.33
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet (2009) 2.22
The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy. Nat Cell Biol (2007) 2.04
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet (2005) 1.95
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. Nat Genet (2009) 1.95
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (2013) 1.93
Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science (2006) 1.88
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet (2006) 1.84
Managing Duchenne muscular dystrophy--the additive effect of spinal surgery and home nocturnal ventilation in improving survival. Neuromuscul Disord (2007) 1.80
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat (2013) 1.78
Neurology in sub-Saharan Africa: a challenge for World Federation of Neurology. Neurology (2007) 1.78
5' trans-splicing repair of the PLEC1 gene. J Invest Dermatol (2007) 1.77
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain (2007) 1.73
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet (2003) 1.72
Pathological consequences of VCP mutations on human striated muscle. Brain (2006) 1.68
Prevention of cardiomyopathy in delta-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectors. Cardiovasc Res (2009) 1.67
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry (2013) 1.64
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. PLoS Genet (2010) 1.62
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet (2003) 1.57
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat (2009) 1.54
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain (2007) 1.52
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol (2008) 1.52
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet (2009) 1.51
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet (2008) 1.49
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord (2007) 1.46
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet (2002) 1.46
Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol (2003) 1.44
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. FASEB J (2006) 1.44
Limb-girdle muscular dystrophies. Curr Opin Neurol (2008) 1.42
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet (2010) 1.40
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet (2011) 1.39
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. Hum Mol Genet (2009) 1.37
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. Brain (2007) 1.35
126th International Workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands. Neuromuscul Disord (2005) 1.35
Risk of developing a mitochondrial DNA deletion disorder. Lancet (2004) 1.34
From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis. FASEB J (2007) 1.34
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. Neuromuscul Disord (2010) 1.34
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy. Hum Mol Genet (2011) 1.32
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. J Gen Intern Med (2014) 1.30
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Ann Neurol (2002) 1.30
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain (2010) 1.28
New aspects on patients affected by dysferlin deficient muscular dystrophy. J Neurol Neurosurg Psychiatry (2009) 1.28
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat (2015) 1.26
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol (2003) 1.26
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain (2007) 1.25
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol (2005) 1.25
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul Disord (2010) 1.25
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord (2010) 1.24
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. Hum Mutat (2012) 1.23
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes. Brain (2008) 1.22
Homozygosity for CCTG mutation in myotonic dystrophy type 2. Brain (2004) 1.21
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. J Neurol (2011) 1.21
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. Muscle Nerve (2010) 1.21
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I. Ann Neurol (2004) 1.20
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. J Neurol Neurosurg Psychiatry (2011) 1.19
Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy. Eur J Heart Fail (2009) 1.19
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Brain (2013) 1.18
Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission. Expert Rev Mol Med (2007) 1.17
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat (2010) 1.17
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. Brain (2011) 1.17
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet (2003) 1.17
Translating the genomics revolution: the need for an international gene therapy consortium for monogenic diseases. Mol Ther (2013) 1.16
Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy. PLoS One (2013) 1.16
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet (2009) 1.16
Linker molecules between laminins and dystroglycan ameliorate laminin-alpha2-deficient muscular dystrophy at all disease stages. J Cell Biol (2007) 1.15
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat (2012) 1.15
Quantitative muscle MRI as an assessment tool for monitoring disease progression in LGMD2I: a multicentre longitudinal study. PLoS One (2013) 1.14
MR imaging in Duchenne muscular dystrophy: quantification of T1-weighted signal, contrast uptake, and the effects of exercise. J Magn Reson Imaging (2009) 1.13
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain (2009) 1.10
The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases. Orphanet J Rare Dis (2013) 1.09
125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands. Neuromuscul Disord (2004) 1.09
Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells. Exp Cell Res (2004) 1.08
157th ENMC International Workshop: patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands. Neuromuscul Disord (2008) 1.08
Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol (2005) 1.08
Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations. J Inherit Metab Dis (2010) 1.07
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency. J Neurol (2014) 1.07
What's in the serum of seronegative MG and LEMS?: MuSK et al. Neurology (2002) 1.07