- Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion diseaseS G Lindquist
Department of Clinical Genetics, 4062, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark
Clin Genet 83:279-83. 2013..Our study widens the clinical spectrum of C9ORF72 related disease and confirms the hexanucleotide expansion as a prevalent cause of FTD-ALS disorders. There was no indication of a modifying effect of the ATXN2 gene...
- Atypical early-onset Alzheimer's disease caused by the Iranian APP mutationSuzanne Granhøj Lindquist
Memory Disorders Research Group, Department of Neurology, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
J Neurol Sci 268:124-30. 2008..We describe atypical phenotypic features in a family with a pathogenic APP gene mutation and discuss possible explanations for these atypical features...