118th ENMC International Workshop on Advances in Myotubular Myopathy. 26–28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy)-Reference-Cited by-同舟云学术

118th ENMC International Workshop on Advances in Myotubular Myopathy. 26–28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy)

Published:2004-06 Issue:6 Volume:14 Page:387-396
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Bertini E.,Biancalana V.,Bolino A.,Buj Bello A.,Clague M.,Guicheney P.,Jungbluth H.,Kress W.,Musaro' A.,Nandurkar H.,Pirola L.,Romero N.,Senderek J.,Suter U.,Sewry C.,Tronchere H.,Wallgren-Pettersson C.,Wishart M.J.,Laporte J.

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference45 articles.

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2. Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases;Laporte;Hum Mol Genet,2003

3. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype;Biancalana;Hum Genet,2003

4. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy;Herman;Hum Mut,2002

5. Medical complications in long-term survivors with X-linked myotubular myopathy;Herman;J Pediatr,1999

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