(Q44063739)

English

Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?

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scholarly article

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Europe PubMed Central

PubMed publication ID

29 November 2017

Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye? (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 November 2017

muscular dystrophy

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based on heuristic

inferred from title

facioscapulohumeral muscular dystrophy 1

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7

object named as

Zatz M

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Europe PubMed Central

PubMed publication ID

29 November 2017

1 reference

ORCID Public Data File 2021

author name string

Tonini MM

1

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Europe PubMed Central

PubMed publication ID

29 November 2017

Passos-Bueno MR

2

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Europe PubMed Central

PubMed publication ID

29 November 2017

Cerqueira A

3

1 reference

Europe PubMed Central

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29 November 2017

Pavanello R

4

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Europe PubMed Central

PubMed publication ID

29 November 2017

Vainzof M

5

1 reference

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29 November 2017

Dubowitz V

6

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29 November 2017

publication date

1 August 2002

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29 November 2017

Neuromuscular Disorders

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29 November 2017

12

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29 November 2017

6

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Europe PubMed Central

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29 November 2017

554-557

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Europe PubMed Central

PubMed publication ID

29 November 2017

Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900014-7

7 January 2021

based on heuristic

inferred from DOI database lookup

The evolutionary distribution and structural organization of the homeobox-containing repeat D4Z4 indicates a functional role for the ancestral copy in the FSHD region

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900014-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900014-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900014-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900014-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900014-7

7 January 2021

based on heuristic

inferred from DOI database lookup

FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900014-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900014-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900014-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900014-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Retrotransposons as epigenetic mediators of phenotypic variation in mammals

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900014-7

7 January 2021

based on heuristic

inferred from DOI database lookup

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900014-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(02)00014-7

1 reference

Europe PubMed Central

PubMed publication ID

29 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 November 2017

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