Hereditary motor and sensory neuropathy – Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries (Q57640084)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11053686%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11053686%20AND%20SRC:MED&resulttype=core&format=json

hereditary motor and sensory neuropathy

1 November 2019

main subject

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author

Frank Baas

8

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1 November 2019

Danielle E. Dye

9

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1 November 2019

Luciano Merlini

22

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1 November 2019

13

B Keats

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1 November 2019

author name string

D Chandler

1

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1 November 2019

D Angelicheva

2

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1 November 2019

L Heather

3

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1 November 2019

R Gooding

4

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1 November 2019

D Gresham

5

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1 November 2019

P Yanakiev

6

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1 November 2019

R de Jonge

7

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1 November 2019

L Karagyozov

10

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1 November 2019

A Savov

11

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1 November 2019

K Blechschmidt

12

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1 November 2019

P K Thomas

14

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1 November 2019

R H King

15

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1 November 2019

A Starr

16

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1 November 2019

A Nikolova

17

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1 November 2019

J Colomer

18

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1 November 2019

B Ishpekova

19

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1 November 2019

I Tournev

20

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1 November 2019

J A Urtizberea

21

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1 November 2019

D Butinar

23

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1 November 2019

B Chabrol

24

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1 November 2019

T Voit

25

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1 November 2019

M Baethmann

26

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1 November 2019

V Nedkova

27

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1 November 2019

A Corches

28

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1 November 2019

L Kalaydjieva

29

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1 November 2019

publication date

1 December 2000

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1 November 2019

published in

Neuromuscular Disorders

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1 November 2019

volume

10

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1 November 2019

issue

8

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1 November 2019

page(s)

584-591

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

1 November 2019

cites work

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7 January 2021

Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings.

1 reference

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7 January 2021

HMSNL in a 13-year-old Bulgarian girl

1 reference

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7 January 2021

Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family: clinical, electrophysiological, pathological and genetic studies

1 reference

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7 January 2021

The gene for the human Src-like adaptor protein (hSLAP) is located within the 64-kb intron of the thyroglobulin gene

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7 January 2021

A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity

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7 January 2021

A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin

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7 January 2021

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Identifiers

DOI

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1 November 2019

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