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Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.The role of tRNA synthetases in neurological and neuromuscular disorders.Hereditary Neuropathies.Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.DNAJ Proteins in neurodegeneration: essential and protective factors.Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.
P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on March 2017
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Genetic heterogeneity of motor neuropathies
@en
Genetic heterogeneity of motor neuropathies.
@nl
type
label
Genetic heterogeneity of motor neuropathies
@en
Genetic heterogeneity of motor neuropathies.
@nl
prefLabel
Genetic heterogeneity of motor neuropathies
@en
Genetic heterogeneity of motor neuropathies.
@nl
P2093
P2860
P50
P1433
P1476
Genetic heterogeneity of motor neuropathies
@en
P2093
Anna Bradshaw
Boglarka Bansagi
Edit Franko
Hannah Steele
James Miller
Jennifer Duff
Mark Greenslade
Natalie Forester
Roger G Whittaker
Stephanie Kleinle
P2860
P304
P356
10.1212/WNL.0000000000003772
P407
P577
2017-03-01T00:00:00Z