(Q35193592)

7 August 2017

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title

Dominantly inherited peripheral neuropathies (English)

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7 August 2017

Jean-Michel Vallat

1

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7 August 2017

publication date

1 July 2003

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Journal of Neuropathology & Experimental Neurology

7 August 2017

published in

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7 August 2017

volume

62

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7 August 2017

issue

7

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7 August 2017

page(s)

699-714

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The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.

7 August 2017

cites work

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Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation

21 January 2018

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Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal

21 January 2018

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Muscle and intramuscular nerve pathology in congenital hypomyelination neuropathy

21 January 2018

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21 January 2018

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Myelin synthesis in the peripheral nervous system.

21 January 2018

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On the molecular architecture of myelinated fibers

21 January 2018

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Ultrastructural PMP22 expression in inherited demyelinating neuropathies

21 January 2018

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Expression of myelin proteins in the adult heterozygous Trembler mouse

21 January 2018

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Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases

21 January 2018

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Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy

21 January 2018

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Congenital hypomyelinating neuropathy: a reversible case

21 January 2018

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Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation

21 January 2018

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Peripheral myelin modification in CMT1B correlates with MPZ gene mutations

21 January 2018

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Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome

21 January 2018

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Globular neuropathy. A disorder of axons and Schwann cells

21 January 2018

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Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies

21 January 2018

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Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.

21 January 2018

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Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

21 January 2018

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Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.

21 January 2018

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Connexin32-null mice develop demyelinating peripheral neuropathy

21 January 2018

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Phenotypic expression of a Pro 87 to Leu mutation in the connexin 32 gene in a large Swiss family with Charcot-Marie-Tooth neuropathy

21 January 2018

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X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).

21 January 2018

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Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN.

21 January 2018

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Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

21 January 2018

1 reference

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Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A

21 January 2018

1 reference

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Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family

21 January 2018

1 reference

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Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

21 January 2018

1 reference

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Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis

21 January 2018

1 reference

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Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

21 January 2018

1 reference

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A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

21 January 2018

1 reference

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Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

21 January 2018

1 reference

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Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.7.699

Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.7.699

Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.7.699

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.7.699

Understanding Schwann cell-neurone interactions: the key to Charcot-Marie-Tooth disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.7.699

Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.7.699

A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F62.7.699

21 January 2018

Identifiers

DOI

10.1093/JNEN/62.7.699

1 reference

release_3phylo33gba55j6do5v46lboni

7 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3phylo33gba55j6do5v46lboni

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference