Ilse Gijselinck
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View article: Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort Open
View article: Clinical Evidence of Disease Anticipation in Families Segregating a <i>C9orf72</i> Repeat Expansion
Clinical Evidence of Disease Anticipation in Families Segregating a <i>C9orf72</i> Repeat Expansion Open
The clinical data provide supportive evidence for the occurrence of disease anticipation in families carrying a C9orf72 repeat expansion by means of a decrease in age at onset across successive generations. This finding may help clinicians…
View article: The Genetics of<i>C9orf72</i>Expansions
The Genetics of<i>C9orf72</i>Expansions Open
Repeat expansions in the promoter region of C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and related disorders of the ALS/frontotemporal lobar degeneration (FTLD) spectrum. Remarkable clinical het…
View article: <i>TBK1</i> Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
<i>TBK1</i> Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Open
We investigated the mutation spectrum of the TANK-Binding Kinase 1 (TBK1) gene and its associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 patients with frontotemporal dementia (FTD), amyotrophic lateral scle…
View article: Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD
Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD Open
View article: Clinical features of<i>TBK1</i>carriers compared with<i>C9orf72</i>,<i>GRN</i>and non-mutation carriers in a Belgian cohort
Clinical features of<i>TBK1</i>carriers compared with<i>C9orf72</i>,<i>GRN</i>and non-mutation carriers in a Belgian cohort Open
We identified in a cohort of patients with frontotemporal dementia (n = 481) or amyotrophic lateral sclerosis (n = 147), 10 index patients carrying a TBK1 loss of function mutation reducing TBK1 expression by 50%. Here, we describe the cli…
View article: Loss of <i>TBK1</i> is a frequent cause of frontotemporal dementia in a Belgian cohort
Loss of <i>TBK1</i> is a frequent cause of frontotemporal dementia in a Belgian cohort Open
TBK1 LOF mutations are the third most frequent cause of clinical FTD in the Belgian clinically based patient cohort, after C9orf72 and GRN, and the second most common cause of clinical ALS after C9orf72. These findings reinforce that FTD a…
View article: The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter
The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter Open
Pathological expansion of a G4C2 repeat, located in the 5' regulatory region of C9orf72, is the most common genetic cause of frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). C9orf72 patients have highly var…