Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia

Approach to asymptomatic creatine kinase elevation

(2016) S. MOGHADAM-KIA et al.   CLEVELAND CLINIC JOURNAL OF MEDICINE

Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy

(2016) Marius Kuhn et al.   JOURNAL OF NEUROLOGY

Targeted next-generation sequencing assay for detection of mutations in primary myopathies

(2016) Anni Evilä et al.   NEUROMUSCULAR DISORDERS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders

(2015) Jong Hee Chae et al.   JOURNAL OF MEDICAL GENETICS

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing: Table 1

(2015) Amandine Sevy et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults

(2015) M. Tarnopolsky et al.   NEUROMUSCULAR DISORDERS

A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing

(2015) Yi Dai et al.   NEUROMUSCULAR DISORDERS

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

(2015) Marco Savarese et al.   NEUROMUSCULAR DISORDERS

Rhabdomyolysis: a genetic perspective

(2015) Renata Siciliani Scalco et al.   Orphanet Journal of Rare Diseases

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

(2015) Angharad M. Roberts et al.   Science Translational Medicine

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

(2014) Arunkanth Ankala et al.   ANNALS OF NEUROLOGY

Two recurrent mutations are associated with GNE myopathy in the North of Britain

(2014) Amina Chaouch et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Sarcolemmal Alpha and Gamma Sarcoglycan Protein Deficiencies in Turkish Siblings With a Novel Missense Mutation in the Alpha Sarcoglycan Gene

(2014) Gulden Diniz et al.   PEDIATRIC NEUROLOGY

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

(2013) Michael O. Dorschner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ryanodine Receptor Type 1 Gene Variants in the Malignant Hyperthermia-Susceptible Population of the United States

(2013) Barbara W. Brandom et al.   ANESTHESIA AND ANALGESIA

Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy

(2013) W. H. J. P. Linssen et al.   EUROPEAN JOURNAL OF NEUROLOGY

ACMG clinical laboratory standards for next-generation sequencing

(2013) Heidi L. Rehm et al.   GENETICS IN MEDICINE

Forty-five years to diagnosis

(2013) Jeanette Erdmann et al.   NEUROMUSCULAR DISORDERS

Desminopathies: pathology and mechanisms

(2012) Christoph S. Clemen et al.   ACTA NEUROPATHOLOGICA

In Vivo Characterization of Mutant Myotilins

(2012) Etsuko Keduka et al.   AMERICAN JOURNAL OF PATHOLOGY

Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies

(2012) Simon Hauerslev et al.   BMC MUSCULOSKELETAL DISORDERS

Titin mutation segregates with hereditary myopathy with early respiratory failure

(2012) Gerald Pfeffer et al.   BRAIN

Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies

(2012) Andrea Klein et al.   HUMAN MUTATION

Disease-associated mutations in the coil 2B domain of human lamin A/C affect structural properties that mediate dimerization and intermediate filament formation

(2012) Fabrizio Gangemi et al.   JOURNAL OF STRUCTURAL BIOLOGY

Dilated cardiomyopathy-associatedBAG3mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes

(2011) Takuro Arimura et al.   HUMAN MUTATION

What can exome sequencing do for you?

(2011) J. Majewski et al.   JOURNAL OF MEDICAL GENETICS

Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I

(2011) A. Palmieri et al.   JOURNAL OF NEUROLOGY

Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms

(2011) Sofia T. Duarte et al.   MUSCLE & NERVE

A decade’s perspective on DNA sequencing technology

(2011) Elaine R. Mardis   NATURE

Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation

(2011) David O. Robinson et al.   NEUROMUSCULAR DISORDERS

A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy

(2010) D. Hicks et al.   BRAIN

EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia

(2010) T. Kyriakides et al.   EUROPEAN JOURNAL OF NEUROLOGY

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations

(2010) Juergen Scharner et al.   HUMAN MUTATION

Novel diagnostic features of dysferlinopathies

(2010) Xiomara Q. Rosales et al.   MUSCLE & NERVE

VCP Associated Inclusion Body Myopathy and Paget Disease of Bone Knock-In Mouse Model Exhibits Tissue Pathology Typical of Human Disease

(2010) Mallikarjun Badadani et al.   PLoS One

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients

(2009) J Oliveira et al.   CLINICAL GENETICS

Dok-7 myasthenia: Phenotypic and molecular genetic studies in 16 patients

(2008) Duygu Selcen et al.   ANNALS OF NEUROLOGY

Novel RYR1 missense mutation causes core rod myopathy

(2008) M. von der Hagen et al.   EUROPEAN JOURNAL OF NEUROLOGY

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores

(2008) Nicole Monnier et al.   HUMAN MUTATION

Analysis of theDYSFmutational spectrum in a large cohort of patients

(2008) Martin Krahn et al.   HUMAN MUTATION

Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes

(2008) Genri Kawahara et al.   MUSCLE & NERVE

LAMA2 mRNA processing alterations generate a complete deficiency of laminin-α2 protein and a severe congenital muscular dystrophy

(2007) Olfa Siala et al.   NEUROMUSCULAR DISORDERS