Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

Inferring the effect of genomic variation in the new era of genomics

(2018) Samya Chakravorty et al.   HUMAN MUTATION

Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing

(2018) Zuzana Chyra Kufova et al.   JOURNAL OF CLINICAL PATHOLOGY

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

(2018) Marco Savarese et al.   NEUROMUSCULAR DISORDERS

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations

(2017) Ethan S Sen et al.   JOURNAL OF MEDICAL GENETICS

Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21

(2017) Jennifer M. Martinez-Thompson et al.   MUSCLE & NERVE

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

(2017) Beryl B. Cummings et al.   Science Translational Medicine

Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing

(2017) Meng Yu et al.   PLoS One

A heterozygous 21-bp deletion inCAPN3causes dominantly inherited limb girdle muscular dystrophy

(2016) John Vissing et al.   BRAIN

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

(2016) Hemakumar M Reddy et al.   JOURNAL OF HUMAN GENETICS

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

Progress and challenges in diagnosis of dysferlinopathy

(2016) Marina Fanin et al.   MUSCLE & NERVE

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

(2016) Francesca Magri et al.   MUSCLE & NERVE

The genetic basis of undiagnosed muscular dystrophies and myopathies

(2016) Marco Savarese et al.   NEUROLOGY

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness

(2016) Zoltan Lukacs et al.   NEUROLOGY

Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?

(2016) Volker Straub et al.   NEUROMUSCULAR DISORDERS

Pathogenesis, clinical features and diagnosis of sarcoglycanopathies

(2016) Corrado Angelini et al.   Expert Opinion on Orphan Drugs

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort

(2016) Stefanie Krüger et al.   Frontiers in Molecular Neuroscience

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

Facioscapulohumeral muscular dystrophy and limb-girdle muscular dystrophy: “Double trouble” overlapping syndrome?

(2015) Sara Simeoni et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

(2015) Marco Savarese et al.   NEUROMUSCULAR DISORDERS

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

(2015) Johanna Palmio et al.   NEUROMUSCULAR DISORDERS

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

(2014) Arunkanth Ankala et al.   ANNALS OF NEUROLOGY

Genetic and Epigenetic Determinants of Low Dysferlin Expression in Monocytes

(2014) Eduard Gallardo et al.   HUMAN MUTATION

Limb-girdle muscular dystrophies: Where next after six decades from the first proposal (Review)

(2014) OMAR A. MAHMOOD et al.   Molecular Medicine Reports

Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies

(2014) Arunkanth Ankala et al.   MUSCLE & NERVE

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy

(2014) Julien Couthouis et al.   NEUROMUSCULAR DISORDERS

A novel dysferlin mutant pseudoexon bypassed with antisense oligonucleotides

(2014) Janice A. Dominov et al.   Annals of Clinical and Translational Neurology

Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data

(2013) Lora J.H. Bean et al.   HUMAN MUTATION

Cellular and molecular mechanisms underlying muscular dystrophy

(2013) Fedik Rahimov et al.   JOURNAL OF CELL BIOLOGY

Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies

(2013) Nicolai Preisler et al.   MOLECULAR GENETICS AND METABOLISM

DNAJB6 myopathy: A vacuolar myopathy with childhood onset

(2013) Gerson Suarez-Cedeno et al.   MUSCLE & NERVE

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases

(2013) Sunil Rodger et al.   Orphanet Journal of Rare Diseases

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

(2012) Richard J L F Lemmers et al.   NATURE GENETICS

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

(2012) Jaakko Sarparanta et al.   NATURE GENETICS

Update on the Genetics of Limb Girdle Muscular Dystrophy

(2012) Satomi Mitsuhashi et al.   Seminars in Pediatric Neurology

Limb girdle muscular dystrophies

(2011) Vincenzo Nigro et al.   CURRENT OPINION IN NEUROLOGY

Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy

(2011) Eduard Gallardo et al.   PLoS One

Natural history of Ullrich congenital muscular dystrophy

(2009) A. Nadeau et al.   NEUROLOGY

Revised spectrum of mutations in sarcoglycanopathies

(2008) Madiha Trabelsi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

(2007) Michela Guglieri et al.   HUMAN MUTATION