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

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

(2010) H. Skre   CLINICAL GENETICS

Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant

(2009) Kenji Tanabe et al.   JOURNAL OF CELL BIOLOGY

The phenotype of Charcot–Marie–Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy

(2009) Henry Houlden et al.   NEUROMUSCULAR DISORDERS

Membrane traffic in the secretory pathway

(2008) M. N. J. Seaman   CELLULAR AND MOLECULAR LIFE SCIENCES

Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease

(2008) Laia Pedrola et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Mitofusin 2 tethers endoplasmic reticulum to mitochondria

(2008) Olga Martins de Brito et al.   NATURE

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster

(2008) Isabelle Gosselin et al.   NEUROMUSCULAR DISORDERS