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
Référence American journal of human genetics, 97, 5, page (726-737)
Publication Publié, 2015-11
Article révisé par les pairs
Titre: |
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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 |