Related references
Note: Only part of the references are listed.Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C
Marion Yger et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2012)
Epigenetics in Alternative Pre-mRNA Splicing
Reini F. Luco et al.
CELL (2011)
High frequency of SH3TC2 mutations in Czech HMSN I patients
P. Lassuthova et al.
CLINICAL GENETICS (2011)
A Leaky Splicing Mutation Affecting SMN1 Exon 7 Inclusion Explains an Unexpected Mild Case of Spinal Muscular Atrophy
Myriam Vezain et al.
HUMAN MUTATION (2011)
Dejerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene
Federica Taioli et al.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2011)
Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy.
James R. Lupski et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Genome sequencing reveals Charcot-Marie-Tooth disease mutation
[Anonymous]
FUTURE NEUROLOGY (2010)
Diagnosis, natural history, and management of Charcot-Marie-Tooth disease
Davide Pareyson et al.
LANCET NEUROLOGY (2009)
The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy
Henry Houlden et al.
NEUROMUSCULAR DISORDERS (2009)
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster
Isabelle Gosselin et al.
NEUROMUSCULAR DISORDERS (2008)
Splicing in disease: disruption of the splicing code and the decoding machinery
Guey-Shin Wang et al.
NATURE REVIEWS GENETICS (2007)
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations
H. Azzedine et al.
NEUROLOGY (2006)
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
J Senderek et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
A computational analysis of sequence features involved in recognition of short introns
LP Lim et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
GeneSplicer: a new computational method for splice site prediction
M Pertea et al.
NUCLEIC ACIDS RESEARCH (2001)