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, …
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 …
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 …
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 …
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 …
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 …
mechanism-based therapies. The disease is defined by the presence of abundant neurofibrillary …
Molecular basis of phenotypic variability in sporadc creudeldt‐jakob disease
We sequenced the prion protein gene and studied the biochemical characteristics and the
intracerebral distribution of protease‐resistant prion protein with Western blot and …
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 …
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 …
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
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 …
subtypes of frontotemporal lobar degeneration (FTLD)[7]. A major impetus behind this …