Progressive Ataxia Due to a Missense Mutation in a Calcium-Channel Gene (original) (raw)
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia
Iulia Blesneac
American journal of human genetics, 2015
View PDFchevron_right
A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia
Hirofumi Maruyama
Molecular brain, 2015
View PDFchevron_right
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia
Maria Cristina D'Adamo
International Journal of Molecular Sciences
View PDFchevron_right
Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia
Silvia Morlino
European Journal of Paediatric Neurology, 2017
View PDFchevron_right
Spinocerebellar ataxia type 6: CAG repeat expansion in ?1a voltage-dependent calcium channel gene and clinical variations in japanese population
Dedy Slamet Riyadi
Annals of Neurology, 1997
View PDFchevron_right
Complete Loss of P/Q Calcium Channel Activity Caused by a CACNA1A Missense Mutation Carried by Patients with Episodic Ataxia Type 2
Liana Veneziano
The American Journal of Human Genetics, 2001
View PDFchevron_right
The molecular biology of the autosomal-dominant cerebellar ataxias
U. Wüllner
Movement Disorders, 2000
View PDFchevron_right
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies
Christelle Tesson
Brain : a journal of neurology, 2017
View PDFchevron_right
Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation
Liana Veneziano
Frontiers in Cellular Neuroscience, 2015
View PDFchevron_right
Missense CACNA1A Mutation Causing Episodic Ataxia Type 2
Anne Ducros
Archives of Neurology, 2001
View PDFchevron_right
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene
Christine Bole-feysot
Brain : a journal of neurology, 2018
View PDFchevron_right
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings
baldo oliva
International Journal of Molecular Sciences
View PDFchevron_right
Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset
Luis velazquez
Brain, 2005
View PDFchevron_right
Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia
Amanda Wahnich
Movement Disorders, 2012
View PDFchevron_right
Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Cav2.1 causing episodic ataxia 2
Liana Veneziano
Journal of Medical Genetics, 2004
View PDFchevron_right
Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia
Gerard Hageman
Journal of Neurology, 2001
View PDFchevron_right
Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A
Igor Vukobradovic
Genes, Brain and Behavior, 2007
View PDFchevron_right
Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2
Andrea Petrovičová
Biomedical Papers of the Faculty of Medicine of Palacký University, Olomouc Czech Republic, 2017
View PDFchevron_right
Cerebellar ataxias: news on genetics and the excitability of affected neurons
Michael Strupp
Journal of Neurology, 2011
View PDFchevron_right
Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology
Giovanni Stevanin
European Journal of Human Genetics, 2000
View PDFchevron_right
Rocker is a new variant of the voltage-dependent calcium channel gene Cacna1a
Karl Herrup
The Journal of neuroscience : the official journal of the Society for Neuroscience, 2001
View PDFchevron_right
NovelPRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype
Richard Sinke
Movement Disorders, 2006
View PDFchevron_right
Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia
Qing Yue
Journal of Neurology, Neurosurgery & Psychiatry, 1998
View PDFchevron_right
Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p
Ada Francia
Human Molecular Genetics, 1997
View PDFchevron_right
Cerebellar Ataxia, Hemiplegic Migraine, and Related Phenotypes Due to a CACNA1A Missense Mutation
José Barros
JAMA Neurology, 2013
View PDFchevron_right