Genetics of neuromuscular disorders

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

(2011) Michael N. Weedon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Charcot-marie-tooth disease subtypes and genetic testing strategies

(2011) Anita S.D. Saporta et al.   ANNALS OF NEUROLOGY

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

(2011) Gladys Montenegro et al.   ANNALS OF NEUROLOGY

Muscle Magnetic Resonance Imaging in Congenital Myopathies Due to Ryanodine Receptor Type 1 Gene Mutations

(2011) Andrea Klein   ARCHIVES OF NEUROLOGY

Genetic spectrum of hereditary neuropathies with onset in the first year of life

(2011) J. Baets et al.   BRAIN

Inflammatory myopathies

(2011) Marinos C. Dalakas   CURRENT OPINION IN NEUROLOGY

Repeat-Primed Polymerase Chain Reaction in Myotonic Dystrophy Type 2 Testing

(2011) Jan Radvansky et al.   Genetic Testing and Molecular Biomarkers

Fetal akinesia: review of the genetics of the neuromuscular causes

(2011) G. Ravenscroft et al.   JOURNAL OF MEDICAL GENETICS

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient

(2011) Odile Dubourg et al.   JOURNAL OF NEUROLOGY

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

(2011) Sebahattin Cirak et al.   LANCET

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY

P3.47 Nemaline myopathy caused by a novel missense mutation in the CFL2 gene

(2011) C.W. Ockeloen et al.   NEUROMUSCULAR DISORDERS

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

(2011) Saida Ortolano et al.   NEUROMUSCULAR DISORDERS

Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy

(2011) Houman Homayoun et al.   NEUROMUSCULAR DISORDERS

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis

(2010) Anne-Claude Tabet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

DNA sequencing errors in molecular diagnostics of filamin myopathy

(2010) Zagaa Odgerel et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency

(2010) Perrine Castets et al.   HUMAN MOLECULAR GENETICS

Massively parallel sequencing of ataxia genes after array-based enrichment

(2010) Alexander Hoischen et al.   HUMAN MUTATION

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

(2010) Emilie Lalonde et al.   HUMAN MUTATION

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

(2010) Nigel F. Clarke et al.   HUMAN MUTATION

Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa

(2010) D. A. Simpson et al.   JOURNAL OF MEDICAL GENETICS

Validation of Sensitivity and Specificity of Tetraplet-Primed PCR (TP-PCR) in the Molecular Diagnosis of Myotonic Dystrophy Type 2 (DM2)

(2010) Claudio Catalli et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Dominant-negative effects of a novel mutation in the filamin myopathy

(2010) S. Kono et al.   NEUROLOGY

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy

(2010) N. Muelas et al.   NEUROLOGY

Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

(2010) Stephen Abbs et al.   NEUROMUSCULAR DISORDERS

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

(2010) Tom Walsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Population programs for the detection of couples at risk for severe monogenic genetic diseases

(2009) Joël Zlotogora   HUMAN GENETICS

Mutations and polymorphisms of the skeletal muscle α-actin gene (ACTA1)

(2009) Nigel G. Laing et al.   HUMAN MUTATION

Multiplicity of experimental approaches to therapy for genetic muscle diseases and necessity for population screening

(2009) Nigel G. Laing   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Hyaline inclusion myopathy: Unmasked by statin therapy

(2009) Agnes Supala-Berger et al.   MUSCLE & NERVE

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

(2009) Friedhelm Hildebrandt et al.   PLoS Genetics

Congenital myopathies

(2008) Caroline A Sewry et al.   CURRENT OPINION IN NEUROLOGY

Mannosidase I inhibition rescues the human α-sarcoglycan R77C recurrent mutation

(2008) Marc Bartoli et al.   HUMAN MOLECULAR GENETICS

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method

(2008) Yoann Saillour et al.   HUMAN MUTATION

Distinct muscle imaging patterns in myofibrillar myopathies

(2008) D. Fischer et al.   NEUROLOGY

SLCO1B1Variants and Statin-Induced Myopathy — A Genomewide Study

(2008)   NEW ENGLAND JOURNAL OF MEDICINE

Limb–girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis

(2007) Harriet P. Lo et al.   NEUROMUSCULAR DISORDERS