C. Ponto

发表

R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia

Colin J. Mahoney, Jennifer M. Nicholas, N. Fox, 2014, Alzheimer's & Dementia.

Report about Four Novel Mutations in the Prion Protein Gene

H. Kretzschmar, E. Grasbon-Frodl, I. Zerr, 2013, Dementia and Geriatric Cognitive Disorders.

Detection of Infectivity in Blood of Persons with Variant and Sporadic Creutzfeldt-Jakob Disease

I. Zerr, O. Andréoletti, C. Lacroux, 2014, Emerging infectious diseases.

Quantifying prion disease penetrance using large population control cohorts

Patrick F. Sullivan, Karen L. Mohlke, M. Arfan Ikram, 2016, Science Translational Medicine.

A Genome Wide Association Study Links Glutamate Receptor Pathway to Sporadic Creutzfeldt-Jakob Disease Risk

A. Hofman, A. Uitterlinden, F. Rivadeneira, 2015, PloS one.

Ascertainment bias causes false signal of anticipation in genetic prion disease.

E. Minikel, A. Karch, S. Mead, 2014, American journal of human genetics.

Diagnostic profiles of patients with late-onset Creutzfeldt–Jakob disease differ from those of younger Creutzfeldt–Jakob patients: a historical cohort study using data from the German National Reference Center

A. Karch, I. Zerr, P. Hermann, 2014, Journal of Neurology.

Doxycycline in early CJD: a double-blinded randomised phase II and observational study

Tim Friede, Walter J Schulz-Schaeffer, T. Friede, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

A proposal of new diagnostic pathway for fatal familial insomnia

H. Kretzschmar, U. Heinemann, A. Krasnianski, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Cerebrospinal fluid tau levels are a marker for molecular subtype in sporadic Creutzfeldt-Jakob disease

A. Karch, I. Zerr, F. Llorens, 2015, Neurobiology of Aging.

Age at onset in genetic prion disease and the design of preventive clinical trials.

E. Minikel, S. Mead, J. Laplanche, 2019, Neurology.

Clinical findings and diagnosis in genetic prion diseases in Germany

K. Kallenberg, H. Kretzschmar, U. Heinemann, 2015, European Journal of Epidemiology.

Age of onset in genetic prion disease and the design of preventive clinical trials

E. Minikel, S. Mead, J. Laplanche, 2018, bioRxiv.

Rare structural genetic variation in human prion diseases

S. Mead, J. Collinge, I. Zerr, 2015, Neurobiology of Aging.

Investigating the Association of ApoE Genotypes with Blood-Brain Barrier Dysfunction Measured by Cerebrospinal Fluid-Serum Albumin Ratio in a Cohort of Patients with Different Types of Dementia

A. Karch, U. Heinemann, I. Zerr, 2013, PloS one.

Rare structural genetic variation in human prion diseases.

S. Mead, J. Collinge, I. Zerr, 2015, Neurobiology of aging.