Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

by Tesson, Christelle, Koht, Jeanette, Stevanin, Giovanni
Published 2015

Benign hereditary chorea, not only chorea: a family case presentation

by Koht, Jeanette, Løstegaard, Sven Olav, Wedding, Iselin, Vidailhet, Marie, Louha, Malek, Tallaksen, Chantal ME
Published 2016

Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and populati...

by Wedding, Iselin Marie, Koht, Jeanette, Dietrichs, Espen, Landrø, Nils Inge, Tallaksen, Chantal ME
Published 2013

Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature

by Trouillard, Oriane, Koht, Jeanette, Gerstner, Thorsten, Moland, Siri, Depienne, Christel, Dusart, Isabelle, Méneret, Aurélie, Ruiz, Marta, Dubacq, Caroline, Roze, Emmanuel
Published 2016

Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions

by Wedding, Iselin Marie, Koht, Jeanette, Tran, Gia Tuong, Misceo, Doriana, Selmer, Kaja Kristine, Holmgren, Asbjørn, Frengen, Eirik, Bindoff, Laurence, Tallaksen, Chantal M. E., Tzoulis, Charalampos
Published 2014

STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity

by Heimdal, Ketil, Sanchez-Guixé, Monica, Aukrust, Ingvild, Bollerslev, Jens, Bruland, Ove, Jablonski, Greg Eigner, Erichsen, Anne Kjersti, Gude, Einar, Koht, Jeanette A, Erdal, Sigrid, Fiskerstrand, Torunn, Haukanes, Bjørn Ivar, Boman, Helge, Bjørkhaug, Lise, Tallaksen, Chantal ME, Knappskog, Per M, Johansson, Stefan
Published 2014