Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy

By Laporte Jocelyn  

Human Molecular Genetics, Vol. 6, Iss. 9, 1997-01 ,pp. : 1505-1511

Oxford University Press

Access to resources Recommend Favorite

Characterization of Mutations in the Myotubularin Gene in Twenty Six Patients with X-Linked Myotubular Myopathy

By de Gouyon Beatrice M.   Zhao Wei   Laporte Jocelyn   Mandel Jean-Louis   Metzenberg Aida   Herman Gail E.  

Human Molecular Genetics, Vol. 6, Iss. 9, 1997-01 ,pp. : 1499-1504

Oxford University Press

Access to resources Recommend Favorite

Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy

By Matzner Ulrich  

Human Molecular Genetics, Vol. 14, Iss. 9, 2005-05 ,pp. : 1139-1152

Oxford University Press

Access to resources Recommend Favorite

Efficacy of enzyme replacement therapy in α-mannosidosis mice: a preclinical animal study

By Roces Diego Prieto  

Human Molecular Genetics, Vol. 13, Iss. 18, 2004-09 ,pp. : 1979-1988

Oxford University Press

Access to resources Recommend Favorite

Loss of cIAP1 attenuates soleus muscle pathology and improves diaphragm function in mdx mice

By Enwere Emeka K.   Boudreault Louise   Holbrook Janelle   Timusk Kristen   Earl Nathalie   LaCasse Eric   Renaud Jean-Marc   Korneluk Robert G.  

Human Molecular Genetics, Vol. 22, Iss. 5, 2013-03 ,pp. : 867-878

Oxford University Press

Access to resources Recommend Favorite