High frequency of SH3TC2 mutations in Czech HMSN I patients

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2009) Vincenzo Lupo et al.   HUMAN MOLECULAR GENETICS

Mistargeting of SH3TC2 away from the recycling endosome causes Charcot–Marie–Tooth disease type 4C

(2009) Rhys C. Roberts et al.   HUMAN MOLECULAR GENETICS

Diagnosis and new treatments in genetic neuropathies

(2009) M M Reilly et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

(2009) E. Arnaud et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Practice Parameter: Evaluation of distal symmetric polyneuropathy: Role of laboratory and genetic testing (an evidence-based review): Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation

(2008) J. D. England et al.   NEUROLOGY

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

(2008) Isabelle Gosselin et al.   NEUROMUSCULAR DISORDERS