相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。TRUNCATING CLCN1 MUTATIONS IN MYOTONIA CONGENITA: VARIABLE PATTERNS OF INHERITANCE
Randal C. Richardson et al.
MUSCLE & NERVE (2014)
Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo
Alexandre S. Borges et al.
NEUROMUSCULAR DISORDERS (2013)
Widespread recognition of 5′ splice sites by noncanonical base-pairing to U1 snRNA involving bulged nucleotides
Xavier Roca et al.
GENES & DEVELOPMENT (2012)
A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony
Inge D. Wijnberg et al.
NEUROMUSCULAR DISORDERS (2012)
First WNK4-Hypokalemia Animal Model Identified by Genome-Wide Association in Burmese Cats
Barbara Gandolfi et al.
PLOS ONE (2012)
New insights into RNA secondary structure in the alternative splicing of pre-mRNAs
Yongfeng Jin et al.
RNA BIOLOGY (2011)
Structure of a Eukaryotic CLC Transporter Defines an Intermediate State in the Transport Cycle
Liang Feng et al.
SCIENCE (2010)
CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology
Thomas J. Jentsch
CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY (2008)
Dosage effect of a dominant CLCN1 mutation: A novel syndrome
Genevieve Bernard et al.
JOURNAL OF CHILD NEUROLOGY (2008)
Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders
Patrik Michel et al.
MUSCLE & NERVE (2007)
Activity-induced weakness in recessive myotonia congenita with a novel (696+1G > A) mutation
Owen M. McKay et al.
CLINICAL NEUROPHYSIOLOGY (2006)
Cold extends electromyography distinction between ion channel mutations causing myotonla
Emmanuel Fournier et al.
ANNALS OF NEUROLOGY (2006)
Stabilization of the tau exon 10 stem loop alters pre-mRNA splicing
Christine P. Donahue et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
CBS domains: structure, function, and pathology in human proteins
S Ignoul et al.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2005)
Phenotypic variability in myotonia congenita
E Colding-Jorgensen
MUSCLE & NERVE (2005)
Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype
M Duno et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2004)
Congenital diseases of feline muscle and neuromuscular junction
F Gaschen et al.
JOURNAL OF FELINE MEDICINE AND SURGERY (2004)
Electromyography guides toward subgroups of mutations in muscle channelopathies
E Fournier et al.
ANNALS OF NEUROLOGY (2004)
Decrement of compound muscle action potential is related to mutation type in myotonia congenita
E Colding-Jorgensen et al.
MUSCLE & NERVE (2003)
Involvement of helices at the dimer interface in C1C-1 common gating
M Duffield et al.
JOURNAL OF GENERAL PHYSIOLOGY (2003)
X-ray structure of a CIC chloride channel at 3.0 Å reveals the molecular basis of anion selectivity
R Dutzler et al.
NATURE (2002)
Myotonia caused by mutations in the muscle chloride channel gene CLCN1
M Pusch
HUMAN MUTATION (2002)
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia
C Sun et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2001)
Projection structure of a CIC-type chloride channel at 6.5 Å resolution
JA Mindell et al.
NATURE (2001)
分享论文
