Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy
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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesCongenital neutropenia: diagnosis, molecular bases and patient management.Dynamin 2-dependent endocytosis is required for normal megakaryocyte development in mice.Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohortRecent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.Dynamin-2 in nervous system disorders.Intermediate Charcot-Marie-Tooth disease.Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy.Towards a functional pathology of hereditary neuropathies.Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation[Genetics of neuropathies].Phenotype variability and histopathological findings in patients with a novel DNM2 mutation.Phenotypic Variability in a Large Czech Family with a Dynamin 2–Associated Charcot-Marie-Tooth Neuropathy
P2860
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P2860
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 05 June 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
@cs
name
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy
@en
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
@nl
type
label
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy
@en
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
@nl
prefLabel
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy
@en
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
@nl
P2093
P2860
P50
P356
P1433
P1476
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy
@en
P2093
Antonio Garcia
Els De Vriendt
Elsdon Storey
Garth Nicholson
Henriette M E Bienfait
Ilse De Veuster
John R Merory
Jonathan Baets
José Berciano
P2860
P304
P356
10.1093/BRAIN/AWP115
P407
P577
2009-06-05T00:00:00Z