Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in the SH3TC2 Gene

Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C

(2012) Marion Yger et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Epigenetics in Alternative Pre-mRNA Splicing

(2011) Reini F. Luco et al.   CELL

High frequency of SH3TC2 mutations in Czech HMSN I patients

(2011) P Laššuthová et al.   CLINICAL GENETICS

A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy

(2011) Myriam Vezain et al.   HUMAN MUTATION

Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene

(2011) Federica Taioli et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

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

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

Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

(2009) Davide Pareyson et al.   LANCET NEUROLOGY

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

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

(2008) Isabelle Gosselin et al.   NEUROMUSCULAR DISORDERS