(Q36126350)

12 August 2017

1 reference

title

Autosomal-recessive Charcot-Marie-Tooth diseases (English)

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12 August 2017

4

Franck Sturtz

1 reference

12 August 2017

Jean-Michel Vallat

1

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12 August 2017

Meriem Tazir

series ordinal

2

1 reference

12 August 2017

Corinne Magdelaine

series ordinal

3

1 reference

12 August 2017

Djamel Grid

series ordinal

5

1 reference

12 August 2017

publication date

1 May 2005

1 reference

Journal of Neuropathology & Experimental Neurology

12 August 2017

published in

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12 August 2017

volume

64

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12 August 2017

issue

5

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12 August 2017

page(s)

363-370

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Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

12 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.5.363

Dominantly inherited peripheral neuropathies

21 January 2018

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Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

21 January 2018

1 reference

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The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease

21 January 2018

1 reference

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Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene

21 January 2018

1 reference

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Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations

21 January 2018

1 reference

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Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.5.363

CMT4A: identification of a Hispanic GDAP1 founder mutation

21 January 2018

1 reference

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Globular neuropathy. A disorder of axons and Schwann cells

21 January 2018

1 reference

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An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome

21 January 2018

1 reference

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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

21 January 2018

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21 January 2018

1 reference

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Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin

21 January 2018

1 reference

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Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.

21 January 2018

1 reference

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SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma

21 January 2018

1 reference

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A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease

21 January 2018

1 reference

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Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.

21 January 2018

1 reference

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Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1.

21 January 2018

1 reference

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Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E.

21 January 2018

1 reference

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Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy

21 January 2018

1 reference

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Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity.

21 January 2018

1 reference

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Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings.

21 January 2018

1 reference

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HMSNL in a 13-year-old Bulgarian girl

21 January 2018

1 reference

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Hereditary auditory, vestibular, motor, and sensory neuropathy in a Slovenian Roma (Gypsy) kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.5.363

Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom

21 January 2018

1 reference

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Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

21 January 2018

1 reference

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PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?

21 January 2018

1 reference

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Periaxin mutations cause recessive Dejerine-Sottas neuropathy

21 January 2018

1 reference

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A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

21 January 2018

1 reference

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Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.5.363

A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.5.363

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.5.363

Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.5.363

Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.5.363

Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.5.363

A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.5.363

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.5.363

Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.5.363

Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.5.363

Refined mapping of the HMSNR critical gene region—construction of a high-density integrated genetic and physical map

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.5.363

Hereditary motor and sensory neuropathy-russe: New autosomal recessive neuropathy in balkan gypsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.5.363

Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.5.363

21 January 2018

Identifiers

DOI

10.1093/JNEN/64.5.363

1 reference

12 August 2017

1 reference