about
From sample to PCR product in under 45 minutes: a polymeric integrated microdevice for clinical and forensic DNA analysis.On-chip, multisite extracellular and intracellular recordings from primary cultured skeletal myotubes.MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.Laminin-database v.2.0: an update on laminins in health and neuromuscular disorders.Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation SequencingThe genetic pleiotropy of musculoskeletal aging.Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variantA first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.Proteomic identification of biomarkers of skeletal muscle disorders.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.Next generation sequencing (NGS) strategies for the genetic testing of myopathies.Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.Peptide nanoparticle delivery of charge-neutral splice-switching morpholino oligonucleotides.A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective.Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study
P2860
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P2860
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
@es
name
Genetics of neuromuscular disorders.
@en
Genetics of neuromuscular disorders.
@nl
type
label
Genetics of neuromuscular disorders.
@en
Genetics of neuromuscular disorders.
@nl
prefLabel
Genetics of neuromuscular disorders.
@en
Genetics of neuromuscular disorders.
@nl
P2860
P1476
Genetics of neuromuscular disorders.
@en
P2093
Nigel G Laing
P2860
P356
10.3109/10408363.2012.658906
P577
2012-03-01T00:00:00Z