(Q57390292)

Michael Hunter

1

0 references

Nicolas Levy

Nicolas Levy

18

0 references

Hanns Lochmüller

Hanns Lochmüller

14

0 references

Luba Kalaydjieva

19

Luba Kalaydjieva

0 references

author name string

Rafaëlle Bernard

2

0 references

Elizabeth Freitas

3

0 references

Amandine Boyer

4

0 references

Ian J. Martins

6

0 references

Ivailo Tournev

7

0 references

Albena Jordanova

8

0 references

Velina Guergelcheva

9

0 references

Boryana Ishpekova

10

0 references

Ivo Kremensky

11

0 references

Garth Nicholson

12

0 references

Beate Schlotter

13

0 references

Thomas Voit

15

0 references

Jaume Colomer

16

0 references

P.K. Thomas

HMSNL in a 13-year-old Bulgarian girl

17

0 references

publication date

23 June 2003

0 references

published in

Human Mutation

0 references

volume

22

0 references

issue

2

0 references

page(s)

129-135

0 references

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

Characterization of single-nucleotide polymorphisms in coding regions of human genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

Hereditary motor and sensory neuropathy – Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

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

https://api.crossref.org/works/10.1002%2FHUMU.10240

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

Homocysteine-respondent genes in vascular endothelial cells identified by differential display analysis. GRP78/BiP and novel genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

Differential expression of the RTP/Drg1/Ndr1 gene product in proliferating and growth arrested cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

PHD: predicting one-dimensional protein structure by profile-based neural networks

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

DnaSP version 3: an integrated program for molecular population genetics and molecular evolution analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

DNA variability of human genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

Identification of a novel class in the alpha/beta hydrolase fold superfamily: the N-myc differentiation-related proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

N-myc-dependent repression of ndr1, a gene identified by direct subtraction of whole mouse embryo cDNAs between wild type and N-myc mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

inferred from DOI database lookup

7 January 2021

based on heuristic

The many faces of Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240

inferred from DOI database lookup

7 January 2021

based on heuristic

Identification of a stress-induced protein during human trophoblast differentiation by differential display analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10240