Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.
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Murine muscle engineered from dermal precursors: an in vitro model for skeletal muscle generation, degeneration, and fatty infiltration.Integrative data mining highlights candidate genes for monogenic myopathies.Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.An integrated diagnosis strategy for congenital myopathies.Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutationsMyoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case reportNovel findings associated with MTM1 suggest a higher number of female symptomatic carriers.The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsA first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.Increasing Role of Titin Mutations in Neuromuscular Disorders.The emerging agenda of stratified medicine in neurology.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.Arthrogryposis multiplex congenita in utero: radiologic and pathologic findings.Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.Problems of unknown significance: Counseling in the era of next generation sequencing
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Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
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name
Impacts of massively parallel ...... is of neuromuscular disorders.
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type
label
Impacts of massively parallel ...... is of neuromuscular disorders.
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prefLabel
Impacts of massively parallel ...... is of neuromuscular disorders.
@en
P2860
P1476
Impacts of massively parallel ...... is of neuromuscular disorders.
@en
P2093
Jocelyn Laporte
Nasim Vasli
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P2888
P304
P356
10.1007/S00401-012-1072-7
P577
2012-12-07T00:00:00Z
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P6179
1028155614