• Citer

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.

par Coutelier, Marie;Blesneac, Iulia;Monteil, Arnaud;Monin, Marie Lorraine;Ando, Kunie ;Mundwiller, Emeline;Brusco, Alfredo;Le Ber, Isabelle;Anheim, Mathieu;Castrioto, Anna;Duyckaerts, Charles;Brice, Alexis;Dürr, Alexandra;Lory, Philippe;Stevanin, Giovanni
Référence American journal of human genetics, 97, 5, page (726-737)
Publication Publié, 2015-11

Article révisé par les pairs

• Accès en ligne
• Détails
• Contenu
• Statistiques

Titre:	A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.
Auteur:	Coutelier, Marie; Blesneac, Iulia; Monteil, Arnaud; Monin, Marie Lorraine; Ando, Kunie; Mundwiller, Emeline; Brusco, Alfredo; Le Ber, Isabelle; Anheim, Mathieu; Castrioto, Anna; Duyckaerts, Charles; Brice, Alexis; Dürr, Alexandra; Lory, Philippe; Stevanin, Giovanni
Informations sur la publication:	American journal of human genetics, 97, 5, page (726-737)
Statut de publication:	Publié, 2015-11
Sujet CREF:	Sciences bio-médicales et agricoles
MeSH keywords:	Adolescent
	Adult
	Aged
	Amino Acid Sequence
	Calcium -- metabolism
	Calcium Channels, T-Type -- genetics
	Cerebellar Ataxia -- genetics -- metabolism -- pathology
	Child
	Electrophysiology
	Female
	Genes, Dominant
	HEK293 Cells
	Humans
	Male
	Middle Aged
	Molecular Sequence Data
	Mutation -- genetics
	Neurons -- metabolism -- pathology
	Pedigree
	Phenotype
	Purkinje Cells -- metabolism -- pathology
	Sequence Homology, Amino Acid
	Young Adult
Langue:	Anglais
Identificateurs:	urn:issn:0002-9297
	info:doi/10.1016/j.ajhg.2015.09.007
	info:pii/S0002-9297(15)00371-7
	info:pmid/26456284
	PMC4667105