EFNS guideline on diagnosis and management of limb girdle muscular dystrophies.
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Adenosine A(3) receptor stimulation induces protection of skeletal muscle from eccentric exercise-mediated injuryCardiac involvement in patients with muscular dystrophies: magnetic resonance imaging phenotype and genotypic considerations.Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2ALimb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis.SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patientsDistinct pathophysiological mechanisms of cardiomyopathy in hearts lacking dystrophin or the sarcoglycan complex.Phenotypic and immunohistochemical characterization of sarcoglycanopathies.Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing.An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.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.Finding the sweet spot: assembly and glycosylation of the dystrophin-associated glycoprotein complex.Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?Nocturnal hypoventilation in neuromuscular disease: prevalence according to different definitions issued from the literature.An overview of muscle diseases presenting in adulthood.Young adults' experiences of living with recessive limb-girdle muscular dystrophy from a salutogenic orientation: an interview study.The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.The Need for a Consensus on the Locution "Central Nuclei" in Striated Muscle Myopathies.Atypical manifestation of late onset limb girdle muscular dystrophy presenting with recurrent falling and shoulder dysfunction: a case report.Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective.Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.Association of Limb-Girdle muscular dystrophy with multiple sclerosis: A case report.Serum CK as a guide to the diagnosis of muscle disease.
P2860
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P2860
EFNS guideline on diagnosis and management of limb girdle muscular dystrophies.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on December 2007
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
EFNS guideline on diagnosis and management of limb girdle muscular dystrophies.
@en
EFNS guideline on diagnosis and management of limb girdle muscular dystrophies.
@nl
type
label
EFNS guideline on diagnosis and management of limb girdle muscular dystrophies.
@en
EFNS guideline on diagnosis and management of limb girdle muscular dystrophies.
@nl
prefLabel
EFNS guideline on diagnosis and management of limb girdle muscular dystrophies.
@en
EFNS guideline on diagnosis and management of limb girdle muscular dystrophies.
@nl
P2093
P1476
EFNS guideline on diagnosis and management of limb girdle muscular dystrophies.
@en
P2093
EFNS Guideline Task Force
M de Visser
P304
P356
10.1111/J.1468-1331.2007.01979.X
P577
2007-12-01T00:00:00Z