(Q38939014)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12467734%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12467734%20AND%20SRC:MED&resulttype=core&format=json

Annachiara De Sandre-Giovannoli

15 December 2019

author

3

1 reference

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15 December 2019

P Sindou

8

1 reference

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15 December 2019

Nicolas Levy

11

1 reference

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15 December 2019

author name string

M Chaouch

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12467734%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

Y Allal

2

1 reference

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15 December 2019

J M Vallat

4

1 reference

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15 December 2019

A Amer-el-Khedoud

5

1 reference

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15 December 2019

N Kassouri

6

1 reference

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15 December 2019

A Chaouch

7

1 reference

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15 December 2019

T Hammadouche

9

1 reference

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15 December 2019

M Tazir

10

1 reference

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15 December 2019

D Grid

12

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15 December 2019

publication date

1 January 2003

1 reference

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15 December 2019

published in

Neuromuscular Disorders

1 reference

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15 December 2019

volume

13

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15 December 2019

issue

1

1 reference

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15 December 2019

page(s)

60-67

1 reference

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Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

15 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

The clinical features of hereditary motor and sensory neuropathy types I and II

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

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%2802%2900196-7

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%2802%2900196-7

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%2802%2900196-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

A new type of hereditary motor and sensory neuropathy linked to chromosome 3

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

Cardiomyopathy in patients with hereditary motor and sensory neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

Ultrastructure of myocardium in familial heart block and peroneal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

Neuropathologic and morphometric studies in hereditary motor and sensory neuropathy type II with neurofilament accumulation

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

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%2802%2900196-7

7 January 2021

Peripheral nerve involvement in merosin-deficient congenital muscular dystrophy and dy mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

Conditional disruption of beta 1 integrin in Schwann cells impedes interactions with axons

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

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%2802%2900196-7

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%2802%2900196-7

7 January 2021

Autosomal recessive forms of hereditary motor and sensory neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900196-7

7 January 2021

10.1016/S0960-8966(02)00196-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12467734%20AND%20SRC:MED&resulttype=core&format=json

15 December 2019

1 reference