Impact of next‐generation sequencing panels in the evaluation of limb‐girdle muscular dystrophies
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Impact of next‐generation sequencing panels in the evaluation of limb‐girdle muscular dystrophies
Authors
Keywords
-
Journal
ANNALS OF HUMAN GENETICS
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2019-05-08
DOI
10.1111/ahg.12319
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients
- (2019) Zhiying Xie et al. Orphanet Journal of Rare Diseases
- History and current difficulties in classifying inherited myopathies and muscular dystrophies
- (2018) Stéphane Mathis et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- creat229 th ENMC international workshop: Limb girdle muscular dystrophies – nomenclature and reformed classification, 17-19 March 2017, Naarden, The Netherlands
- (2018) Volker Straub et al. NEUROMUSCULAR DISORDERS
- UniProt: the universal protein knowledgebase
- (2018) The UniProt Consortium NUCLEIC ACIDS RESEARCH
- An update on diagnostic options and considerations in limb-girdle dystrophies
- (2018) Corrado Angelini et al. Expert Review of Neurotherapeutics
- Prevalence, pathological mechanisms, and genetic basis of limb-girdle muscular dystrophies: A review
- (2018) Eskandar Taghizadeh et al. JOURNAL OF CELLULAR PHYSIOLOGY
- Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients
- (2018) Babi Ramesh Reddy Nallamilli et al. Annals of Clinical and Translational Neurology
- Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy
- (2017) Elizabeth Harris et al. Orphanet Journal of Rare Diseases
- Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
- (2017) Beryl B. Cummings et al. Science Translational Medicine
- Limb girdle muscular dystrophies: clinical-genetical diagnostic update and prospects for therapy
- (2017) Corrado Angelini et al. Expert Opinion on Orphan Drugs
- 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
- 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
- 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
- Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy
- (2015) Roula Ghaoui et al. JAMA Neurology
- A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy
- (2014) Jean K. Mah et al. NEUROMUSCULAR DISORDERS
- Redox State and Mitochondrial Respiratory Chain Function in Skeletal Muscle of LGMD2A Patients
- (2014) Mats I. Nilsson et al. PLoS One
- Update on the Genetics of Limb Girdle Muscular Dystrophy
- (2012) Satomi Mitsuhashi et al. Seminars in Pediatric Neurology
- Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications
- (2011) Tayebeh Soheili et al. HUMAN MUTATION
- Repetitive DNA and next-generation sequencing: computational challenges and solutions
- (2011) Todd J. Treangen et al. NATURE REVIEWS GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExplorePublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More