(Q77601981)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829281%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

title

Presence of emerinopathy in cases of rigid spine syndrome (English)

1 reference

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6 December 2019

1 reference

S Kubo

1

1 reference

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6 December 2019

T Tsukahara

2

1 reference

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6 December 2019

M Takemitsu

3

1 reference

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6 December 2019

K B Yoon

4

1 reference

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6 December 2019

H Utsumi

5

1 reference

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6 December 2019

I Nonaka

6

1 reference

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6 December 2019

K Arahata

7

1 reference

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6 December 2019

publication date

1 October 1998

1 reference

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6 December 2019

published in

Neuromuscular Disorders

1 reference

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6 December 2019

volume

8

1 reference

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6 December 2019

issue

7

1 reference

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6 December 2019

page(s)

502-507

1 reference

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Recent advances in neuromuscular disorders

6 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

The rigid spine syndrome in two sisters

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Two siblings with nemaline myopathy presenting with rigid spine syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type).

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Three familial cases presenting with an immobile spine. Rigid spine or Emery-Dreifuss syndrome?

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

A linkage study of Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

European Workshop on Emery-Dreifuss Muscular Dystrophy 1991

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Linkage of Emery-Dreifuss muscular dystrophy to the red/green cone pigment (RGCP) genes, proximal to factor VIII.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Multipoint linkage mapping of the Emery-Dreifuss muscular dystrophy gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Transcriptional organization of a 450-kb region of the human X chromosome in Xq28

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

A Japanese family carrying a novel mutation in the Emery-Dreifuss muscular dystrophy gene

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

43rd ENMC International Workshop on Emery-Dreifuss Muscular Dystrophy, 22 June 1996, Naarden, The Netherlands.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

X-linked emery-dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Rigid spine syndrome and rigid spine sign in myopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Emery-Dreifuss syndrome: genetic and clinical varieties

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Emery-Dreifuss syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

The rigid spine syndrome--a myopathy of uncertain nosological position

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Rigid spine syndrome associated with tent-like configuration of the thoracic cage, cerebral lesion and delayed sexual maturation in three patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Rigid spine syndrome and fatal cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

The rigid spine syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

1 reference

7 January 2021

The rigid spine syndrome and Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Histopathological heterogeneity and cytopathological similarity of findings in different muscles of two brothers affected by rigid spine syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

The rigid spine syndrome: a vacuolar variant

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900069-8

7 January 2021

10.1016/S0960-8966(98)00069-8

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9829281%20AND%20SRC:MED&resulttype=core&format=json

6 December 2019

1 reference