CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

Böhm, Johann; Lornage, Xavière; Chevessier, Frederic; Birck, Catherine; Zanotti, Simona; Cudia, Paola; Bulla, Monica; Granger, Florence; Bui, Mai Thao; Sartori, Maxime; Schneider-Gold, Christiane; Malfatti, Edoardo; Romero, Norma B; Mora, Marina; Laporte, Jocelyn

doi:10.1007/s00401-017-1775-x

Scientific article

English

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

ContributorsBöhm, Johann; Lornage, Xavière; Chevessier, Frederic; Birck, Catherine; Zanotti, Simona; Cudia, Paola; Bulla, Monica; Granger, Florence; Bui, Mai Thao; Sartori, Maxime; Schneider-Gold, Christiane; Malfatti, Edoardo; Romero, Norma B; Mora, Marina; Laporte, Jocelyn

Published inActa Neuropathologica, vol. 135, no. 1, p. 149-151

Publication date2018

Affiliation entities

Faculté de médecine / Section de médecine fondamentale / Département de physiologie cellulaire et métabolisme

Research groups

Signaux intracellulaires (210)

Funding

Swiss National Science Foundation - 31003A–149566

Citation (ISO format)

BÖHM, Johann et al. CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy. In: Acta Neuropathologica, 2018, vol. 135, n° 1, p. 149–151. doi: 10.1007/s00401-017-1775-x

Article (Published version)

Identifiers

PID : unige:111108
DOI : 10.1007/s00401-017-1775-x
PMID : 29039140

Journal ISSN0001-6322

436views

2downloads

Creation07/09/2018 14:04:00

First validation07/09/2018 14:04:00

Update15/03/2023 13:51:38

Status update15/03/2023 13:51:37

Last indexation31/10/2024 11:50:13

Archive ouverte UNIGE

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

Technical informations