(Q44239691)

1 December 2017

Genotype-phenotype correlations in X-linked myotubular myopathy (English)

1 reference

1 December 2017

1 reference

6

1 reference

1 December 2017

7

Michael Krawczak

1 reference

1 December 2017

Meriel McEntagart

1

1 reference

1 December 2017

Gretchen Parsons

2

1 reference

1 December 2017

Anna Buj-Bello

3

1 reference

1 December 2017

Valérie Biancalana

4

1 reference

1 December 2017

Iain Fenton

5

1 reference

1 December 2017

Nick Thomas

8

1 reference

1 December 2017

Gail Herman

9

1 reference

1 December 2017

Angus Clarke

10

1 reference

1 December 2017

Carina Wallgren-Pettersson

11

1 reference

1 December 2017

1 December 2002

1 reference

1 December 2017

Neuromuscular Disorders

1 reference

1 December 2017

12

1 reference

1 December 2017

10

1 reference

1 December 2017

939-946

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900153-0

1 December 2017

1 reference

7 January 2021

MTM1 mutations in X-linked myotubular myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900153-0

7 January 2021

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900153-0

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%2900153-0

7 January 2021

Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900153-0

7 January 2021

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900153-0

7 January 2021

Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900153-0

7 January 2021

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900153-0

7 January 2021

X-linked myotubular myopathy--a long-term follow-up study

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900153-0

7 January 2021

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900153-0

7 January 2021

Medical complications in long-term survivors with X-linked myotubular myopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900153-0

7 January 2021

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900153-0

7 January 2021

High Stature in Neonatal Myotubular Myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900153-0

7 January 2021

Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900153-0

7 January 2021

The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900153-0

7 January 2021

The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900153-0

7 January 2021

Germline mosaicism in X-linked myotubular myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900153-0

7 January 2021

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900153-0

7 January 2021

Diagnosis of X-linked myotubular myopathy by detection of myotubularin.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2802%2900153-0

7 January 2021

10.1016/S0960-8966(02)00153-0

Identifiers

DOI

1 reference

1 December 2017

1 reference