Clinical, neuropathological, and genetic characterization ofSTUB1variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Roux, Thomas; Barbier, Mathieu; Papin, Melanie; Davoine, Claire-Sophie; Sayah, Sabrina; Coarelli, Giulia; Charles, Perrine; Marelli, Cecilia; Parodi, Livia; Tranchant, Christine; Goizet, Cyril; Klebe, Stephan; Lohmann, Ebba; Van Maldergen, Lionel; van Broeckhoven, Christine; Coutelier, Marie; Tesson, Christelle; Stevanin, Giovanni; Duyckaerts, Charles; Brice, Alexis; Durr, Alexandra

Clinical, neuropathological, and genetic characterization ofSTUB1variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Autor(en):

Roux, Thomas; Barbier, Mathieu; Papin, Melanie; Davoine, Claire-Sophie; Sayah, Sabrina; Coarelli, Giulia; Charles, Perrine; Marelli, Cecilia; Parodi, Livia; Tranchant, Christine; Goizet, Cyril; Klebe, Stephan; Lohmann, Ebba; Van Maldergen, Lionel; van Broeckhoven, Christine; Coutelier, Marie; Tesson, Christelle; Stevanin, Giovanni; Duyckaerts, Charles; Brice, Alexis; Durr, Alexandra

Tübinger Autor(en):

Lohmann, Ebba

Erschienen in:

Genetics in Medicine (2020), Bd. 22, S. 1851-1862

Verlagsangabe:

Nature Publishing Group

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1038/s41436-020-0899-x

ISSN:

1530-0366