Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association o
about
Quality improvement in neurology: muscular dystrophy quality measuresMutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously.Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation.Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencingRare disease clinical trials: Power in numbers.A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the PractA Systematic Review and Meta-analysis on the Epidemiology of the Muscular Dystrophies.Clinical features of children and adults with a muscular dystrophy using powered indoor/outdoor wheelchairs: disease features, comorbidities and complications of disability.Progress and challenges in diagnosis of dysferlinopathy.Ethical issues in the evaluation of adults with suspected genetic neuromuscular disorders.Developing multidisciplinary clinics for neuromuscular care and research.The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.Health perceptions of young adults living with recessive limb-girdle muscular dystrophy.Systemic AAV-Mediated β-Sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorates Histological and Functional Deficits in LGMD2E Mice.Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C).Treadmill Training with HAL Exoskeleton-A Novel Approach for Symptomatic Therapy in Patients with Limb-Girdle Muscular Dystrophy-Preliminary Studyβ-Sarcoglycan gene transfer decreases fibrosis and restores force in LGMD2E mice.Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.Characteristic Posterior-dominant Lower Limb Muscle Involvement in Limb-girdle Muscular Dystrophy due to a DNAJB6 Phe93Leu Mutation.Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture.Quality of life in adult patients with limb-girdle muscular dystrophies.Association of Limb-Girdle muscular dystrophy with multiple sclerosis: A case report.Dystrophinopathy muscle biopsies in the genetic testing era: One center's data.Diagnosis and treatment of limb-girdle and distal dystrophies: Payment policy perspectives.Cardiac involvement in the muscular dystrophies.The utility of genetic testing in neuromuscular disease: A consensus statement from the AANEM on the clinical utility of genetic testing in diagnosis of neuromuscular disease.Next generation sequencing detection of late onset pompe disease.Gene Editing and Gene-Based Therapeutics for Cardiomyopathies.Treating pediatric neuromuscular disorders: The future is now.Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene.Serum CK as a guide to the diagnosis of muscle disease.The use of social media among health professionals to facilitate chronic disease self-management with their patients: A systematic review.The use of social media by arthritis health professionals to disseminate a self-management program to patients: A feasibility study.Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
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P2860
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association o
description
2014 nî lūn-bûn
@nan
2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Evidence-based guideline summa ...... of the American Association o
@ast
Evidence-based guideline summa ...... of the American Association o
@en
Evidence-based guideline summa ...... of the American Association o
@nl
type
label
Evidence-based guideline summa ...... of the American Association o
@ast
Evidence-based guideline summa ...... of the American Association o
@en
Evidence-based guideline summa ...... of the American Association o
@nl
prefLabel
Evidence-based guideline summa ...... of the American Association o
@ast
Evidence-based guideline summa ...... of the American Association o
@en
Evidence-based guideline summa ...... of the American Association o
@nl
P2093
P2860
P1433
P1476
Evidence-based guideline summa ...... of the American Association o
@en
P2093
Anthony A Amato
Duygu Selcen
Elizabeth Raynor
Erik Ensrud
Gary Gronseth
Gregory Carter
Guideline Development Subcommittee of the American Academy of Neurology
Matthew Wicklund
Michael Weiss
Practice Issues Review Panel o ...... r & Electrodiagnostic Medicine
P2860
P304
P356
10.1212/WNL.0000000000000892
P407
P577
2014-10-01T00:00:00Z