(Q57640065)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11601496%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies (English)

1 reference

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hereditary motor and sensory neuropathy

12 November 2019

main subject

0 references

author

Luciano Merlini

12

1 reference

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12 November 2019

author name string

P K Thomas

1

1 reference

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12 November 2019

L Kalaydjieva

2

1 reference

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12 November 2019

B Youl

3

1 reference

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12 November 2019

T Rogers

4

1 reference

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12 November 2019

D Angelicheva

5

1 reference

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12 November 2019

R H King

6

1 reference

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12 November 2019

V Guergueltcheva

7

1 reference

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12 November 2019

J Colomer

8

1 reference

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12 November 2019

C Lupu

9

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12 November 2019

A Corches

10

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12 November 2019

G Popa

11

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12 November 2019

A Shmarov

13

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12 November 2019

J R Muddle

14

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12 November 2019

M Nourallah

15

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12 November 2019

I Tournev

16

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12 November 2019

publication date

1 October 2001

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12 November 2019

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12 November 2019

volume

50

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12 November 2019

issue

4

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12 November 2019

page(s)

452-457

1 reference

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

12 November 2019

cites work

1 reference

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

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

21 January 2018

1 reference

Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations

21 January 2018

1 reference

Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome.

21 January 2018

1 reference

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter

21 January 2018

1 reference

A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.

21 January 2018

1 reference

The pathology of charcot-marie-tooth disease and related disorders

21 January 2018

1 reference

Autosomal recessive type II hereditary motor and sensory neuropathy with acrodystrophy

21 January 2018

1 reference

Peripheral neuropathy in Leigh's disease.

21 January 2018

1 reference

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

21 January 2018

1 reference

Autosomal recessive forms of hereditary motor and sensory neuropathy

21 January 2018

1 reference

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

21 January 2018

1 reference

Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths.

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

Hereditary demyelinating neuropathy of infancy: a genetically complex syndrome.

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

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

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

Sural nerve morphometry in diabetic autonomic and painful sensory neuropathy. A clinicopathological study

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

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.1137

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11601496%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference