Classification of sporadic Creutzfeldt‐Jakob disease based on molecular and phenotypic analysis of 300 subjects

…, J Julien, C Vital, B Ghetti… - Annals of …, 1999 - Wiley Online Library
Phenotypic heterogeneity in sporadic Creutzfeldt‐Jakob disease (sCJD) is well documented,
but there is not yet a systematic classification of the disease variants. In a previous study, …

[HTML][HTML] Clinical and biomarker changes in dominantly inherited Alzheimer's disease

…, A Oliver, K Moulder, PS Aisen, B Ghetti… - … England Journal of …, 2012 - Mass Medical Soc
Background The order and magnitude of pathologic processes in Alzheimer's disease are
not well understood, partly because the disease develops over many years. Autosomal …

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

…, M Ganguli, M Gearing, DH Geschwind, B Ghetti… - Nature …, 2011 - nature.com
The Alzheimer Disease Genetics Consortium (ADGC) performed a genome-wide association
study of late-onset Alzheimer disease using a three-stage design consisting of a discovery …

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

…, H Thonberg, W Maier, G Roshchupkin, B Ghetti… - Nature …, 2019 - nature.com
Risk for late-onset Alzheimer’s disease (LOAD), the most prevalent dementia, is partially
driven by genetics. To identify LOAD risk loci, we performed a large genome-wide association …

Mutation in the tau gene in familial multiple system tauopathy with presenile dementia

…, MR Farlow, A Klug, B Ghetti - Proceedings of the …, 1998 - National Acad Sciences
Familial multiple system tauopathy with presenile dementia (MSTD) is a neurodegenerative
disease with an abundant filamentous tau protein pathology. It belongs to the group of …

Cryo-EM structures of tau filaments from Alzheimer's disease

…, G Murshudov, HJ Garringer, RA Crowther, B Ghetti… - Nature, 2017 - nature.com
Alzheimer’s disease is the most common neurodegenerative disease, and there are no
mechanism-based therapies. The disease is defined by the presence of abundant neurofibrillary …

Molecular basis of phenotypic variability in sporadc creudeldt‐jakob disease

P Parchi, R Castellani, S Capellari, B Ghetti… - Annals of …, 1996 - Wiley Online Library
We sequenced the prion protein gene and studied the biochemical characteristics and the
intracerebral distribution of protease‐resistant prion protein with Western blot and …

A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease

J Murrell, M Farlow, B Ghetti, MD Benson - Science, 1991 - science.org
Alzheimer's disease is a form of localized amyloidosis characterized by cerebral cortical
amyloid plaques, neurofibrillary tangles, and amyloid deposits within the walls of …

Structure-based classification of tauopathies

…, D Mann, GG Kovacs, T Revesz, B Ghetti… - Nature, 2021 - nature.com
The ordered assembly of tau protein into filaments characterizes several neurodegenerative
diseases, which are called tauopathies. It was previously reported that, by cryo-electron …

[HTML][HTML] Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update

…, NJ Cairns, I Alafuzoff, J Kril, GG Kovacs, B Ghetti… - Acta …, 2010 - Springer
One year ago, in this journal, we published a recommended nomenclature for the neuropathologic
subtypes of frontotemporal lobar degeneration (FTLD)[7]. A major impetus behind this …