Integrative Data Mining Highlights Candidate Genes for Monogenic Myopathies

Novel distribution of calreticulin to cardiomyocyte mitochondria and its increase in a rat model of dilated cardiomyopathy

(2014) Ming Zhang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

(2013) Nivetha Ramachandran et al.   ACTA NEUROPATHOLOGICA

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

(2013) Gianina Ravenscroft et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

(2013) Elizabeth Stevens et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

(2013) Keren J. Carss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

(2013) Nina Bögershausen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

(2013) Johann Böhm et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Xin Is a Marker of Skeletal Muscle Damage Severity in Myopathies

(2013) Mats I. Nilsson et al.   AMERICAN JOURNAL OF PATHOLOGY

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

(2013) Maria J. Melià et al.   BRAIN

LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner

(2013) Bisei Ohkawara et al.   HUMAN MOLECULAR GENETICS

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

(2013) Karen Buysse et al.   HUMAN MOLECULAR GENETICS

Obscurin is required for ankyrinB-dependent dystrophin localization and sarcolemma integrity

(2013) Davide Randazzo et al.   JOURNAL OF CELL BIOLOGY

Muscular dystrophies

(2013) Eugenio Mercuri et al.   LANCET

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

(2013) Jean-Claude Kaplan et al.   NEUROMUSCULAR DISORDERS

Manteia, a predictive data mining system for vertebrate genes and its applications to human genetic diseases

(2013) Olivier Tassy et al.   NUCLEIC ACIDS RESEARCH

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Unfolded Protein Response and Activated Degradative Pathways Regulation in GNE Myopathy

(2013) Honghao Li et al.   PLoS One

Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

(2013) Annalaura Torella et al.   PLoS One

An Integrated Diagnosis Strategy for Congenital Myopathies

(2013) Johann Böhm et al.   PLoS One

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

(2013) Gaëlle Blandin et al.   Skeletal Muscle

Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders

(2012) Nasim Vasli et al.   ACTA NEUROPATHOLOGICA

Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores

(2012) Karen Majczenko et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The ever-expanding spectrum of congenital muscular dystrophies

(2012) Eugenio Mercuri et al.   ANNALS OF NEUROLOGY

Congenital Myopathies: An Update

(2012) Jessica R. Nance et al.   Current Neurology and Neuroscience Reports

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

(2012) Johann Böhm et al.   HUMAN MUTATION

The diagnosis and treatment of myotonic disorders

(2012) Chad R. Heatwole et al.   MUSCLE & NERVE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

(2012) Thomas Cullup et al.   NATURE GENETICS

Prioritization of candidate genes for attention deficit hyperactivity disorder by computational analysis of multiple data sources

(2012) Suhua Chang et al.   Protein & Cell

Prevalence of congenital myopathies in a representative pediatric united states population

(2011) Kimberly Amburgey et al.   ANNALS OF NEUROLOGY

Alkali-like myosin light chain-1 (myl1) is an early marker for differentiating fast muscle cells in zebrafish

(2011) A. C. Burguière et al.   DEVELOPMENTAL DYNAMICS

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Cytoplasmic γ-actin and tropomodulin isoforms link to the sarcoplasmic reticulum in skeletal muscle fibers

(2011) David S. Gokhin et al.   JOURNAL OF CELL BIOLOGY

Association between statin-associated myopathy and skeletal muscle damage

(2009) M. G. Mohaupt et al.   CANADIAN MEDICAL ASSOCIATION JOURNAL

Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis

(2009) R. Attali et al.   HUMAN MOLECULAR GENETICS

Nesprin-1 mutations in human and murine cardiomyopathy

(2009) Megan J. Puckelwartz et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS