(Q57640061)

1

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E. Righetti

2

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M. Zortea

3

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V. Bosello

4

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F. Schiavon

5

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L. Vallo

6

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L. Merlini

7

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G.M. Fabrizi

9

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N. Rizzuto

10

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M. Milani

11

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S. Baratta

12

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F. Taroni

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

13

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publication date

2001

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published in

Human Mutation

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volume

18

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issue

1

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page(s)

32-41

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cites work

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies

21 January 2018

1 reference

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

21 January 2018

1 reference

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype

21 January 2018

1 reference

Population frequencies of inherited neuromuscular diseases—A world survey

21 January 2018

1 reference

The rapid detection of unknown mutations in nucleic acids.

21 January 2018

1 reference

The 1993-94 Généthon human genetic linkage map

21 January 2018

1 reference

De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

21 January 2018

1 reference

Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.

21 January 2018

1 reference

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

21 January 2018

1 reference

Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene

21 January 2018

1 reference

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

21 January 2018

1 reference

N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom

21 January 2018

1 reference

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness

21 January 2018

1 reference

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

21 January 2018

1 reference

Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.

21 January 2018

1 reference

Ultrasensitive stain for proteins in polyacrylamide gels shows regional variation in cerebrospinal fluid proteins

21 January 2018

1 reference

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

Early growth response-1-dependent apoptosis is mediated by p53.

21 January 2018

1 reference

Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease

21 January 2018

1 reference

Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation

21 January 2018

1 reference

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.

21 January 2018

1 reference

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

21 January 2018

1 reference

Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients

21 January 2018

1 reference

Disruption of Krox-20 results in alteration of rhombomeres 3 and 5 in the developing hindbrain

21 January 2018

1 reference

X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).

21 January 2018

1 reference

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication

21 January 2018

1 reference

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype

21 January 2018

1 reference

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

Effect of training and different measurement strategies on the reproducibility of brain MRI lesion load measurements in multiple sclerosis.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing

21 January 2018

1 reference

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

21 January 2018

1 reference

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

21 January 2018

1 reference

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy

21 January 2018

1 reference

Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus

21 January 2018

1 reference

Diagnostic criteria for autosomal dominant hereditary motor and sensory neuropathy type Ia

21 January 2018

1 reference

Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

21 January 2018

1 reference

3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands

21 January 2018

1 reference

Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene

21 January 2018

1 reference

Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72

21 January 2018

1 reference

Frequency of duplication at 17p11.2 in families of northeast Italy with Charcot-Marie-Tooth disease type 1

21 January 2018

1 reference

Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

Mutations of the same sequence of the myelin P0 gene causing two different phenotypes

21 January 2018

1 reference

Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22

21 January 2018

1 reference

Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13

21 January 2018

1 reference

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

21 January 2018

1 reference

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study

21 January 2018

1 reference