Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease (Q28210281)

8

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Eva Nelis

2

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Chantal Ceuterick

6

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Peter De Jonghe

10

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Luciano Merlini

object named as

Luciano Merlini

3

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author name string

Nadia Ammar

1

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Nina Barisić

4

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Rim Amouri

5

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Jean Jacques Martin

7

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Fayçal Hentati

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

9

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language of work or name

English

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publication date

November 2003

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published in

Neuromuscular Disorders

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volume

13

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issue

9

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page(s)

720-8

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cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900093-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900093-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900093-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900093-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900093-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900093-2

7 January 2021

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900093-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900093-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900093-2

7 January 2021

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900093-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900093-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900093-2

7 January 2021

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900093-2

7 January 2021

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900093-2

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900093-2

7 January 2021