Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot–Marie–Tooth disease type 4B1

By Berger P.  

Human Molecular Genetics, Vol. 11, Iss. 13, 2002-06 ,pp. : 1569-1579

Oxford University Press

Access to resources Recommend Favorite

Charcot–Marie–Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential

By Noack Rebecca   Frede Svenja   Albrecht Philipp   Henke Nadine   Pfeiffer Annika   Knoll Katrin   Dehmel Thomas   Meyer zu Hörste Gerd   Stettner Mark   Kieseier Bernd C.   Summer Holger   Golz Stefan   Kochanski Andrzej   Wiedau-Pazos Martina   Arnold Susanne   Lewerenz Jan   Methner Axel  

Human Molecular Genetics, Vol. 21, Iss. 1, 2012-01 ,pp. : 150-162

Oxford University Press

Access to resources Recommend Favorite

An animal model for Charcot–Marie–Tooth disease type 4B1

By Bonneick Sonja   Boentert Matthias   Berger Philipp   Atanasoski Suzana   Mantei Ned   Wessig Carsten   Toyka Klaus V.   Young Peter   Suter Ueli  

Human Molecular Genetics, Vol. 14, Iss. 23, 2005-12 ,pp. : 3685-3695

Oxford University Press

Access to resources Recommend Favorite

Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency

By  

Molecular Syndromology, Vol. 6, Iss. 4, 2015-0 ,pp. : 204-206

Karger

Access to resources Recommend Favorite

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway

By Lupo Vincenzo   Galindo Mximo I.   Martnez-Rubio Dolores   Sevilla Teresa   Vlchez Juan J.   Palau Francesc   Espins Carmen  

Human Molecular Genetics, Vol. 18, Iss. 23, 2009-12 ,pp. : 4603-4614

Oxford University Press

Access to resources Recommend Favorite