John A Hardy
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Explore the profile of John A Hardy including associated specialties, affiliations and a list of published articles.
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54
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5905
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Recent Articles
1.
McLaughlin J, Scotton W, Ryan N, Hardy J, Shoai M
Alzheimers Dement
. 2024 Oct;
20(12):8673-8683.
PMID: 39439251
Introduction: Assessing treatments for Alzheimer's disease (AD) relies on reliable tools for measuring AD progression. In this analysis, we evaluate the sensitivity of clinical progression measures in AD within randomized...
2.
Magrinelli F, Tesson C, Angelova P, Salazar-Villacorta A, Rodriguez J, Scardamaglia A, et al.
medRxiv
. 2024 Aug;
PMID: 39148840
Dissecting biological pathways highlighted by Mendelian gene discovery has provided critical insights into the pathogenesis of Parkinson's disease (PD) and neurodegeneration. This approach ultimately catalyzes the identification of potential biomarkers...
3.
Chia R, Ray A, Shah Z, Ding J, Ruffo P, Fujita M, et al.
Neuron
. 2024 May;
112(13):2142-2156.e5.
PMID: 38701790
Multiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is poorly understood, and treatments are limited to supportive...
4.
Valentino R, Scotton W, Roemer S, Lashley T, Heckman M, Shoai M, et al.
Lancet Neurol
. 2024 Apr;
23(5):487-499.
PMID: 38631765
Background: Pick's disease is a rare and predominantly sporadic form of frontotemporal dementia that is classified as a primary tauopathy. Pick's disease is pathologically defined by the presence in the...
5.
Kaivola K, Chia R, Ding J, Rasheed M, Fujita M, Menon V, et al.
Cell Genom
. 2023 Jun;
3(6):100316.
PMID: 37388914
We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer's dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS)....
6.
Valentino R, Scotton W, Roemer S, Lashley T, Heckman M, Shoai M, et al.
medRxiv
. 2023 May;
PMID: 37163045
Background: Pick's disease (PiD) is a rare and predominantly sporadic form of frontotemporal dementia that is classified as a primary tauopathy. PiD is pathologically defined by argyrophilic inclusion Pick bodies...
7.
Chen Z, Reynolds R, Pardinas A, Gagliano Taliun S, van Rheenen W, Lin K, et al.
Neurobiol Dis
. 2023 Mar;
180:106082.
PMID: 36925053
Humans are thought to be more susceptible to neurodegeneration than equivalently-aged primates. It is not known whether this vulnerability is specific to anatomically-modern humans or shared with other hominids. The...
8.
Chen Z, Tucci A, Cipriani V, Gustavsson E, Ibanez K, Reynolds R, et al.
Brain
. 2023 Jan;
146(7):2869-2884.
PMID: 36624280
Improvements in functional genomic annotation have led to a critical mass of neurogenetic discoveries. This is exemplified in hereditary ataxia, a heterogeneous group of disorders characterised by incoordination from cerebellar...
9.
Makarious M, Leonard H, Vitale D, Iwaki H, Sargent L, Dadu A, et al.
NPJ Parkinsons Dis
. 2022 Apr;
8(1):35.
PMID: 35365675
Personalized medicine promises individualized disease prediction and treatment. The convergence of machine learning (ML) and available multimodal data is key moving forward. We build upon previous work to deliver multimodal...
10.
Magrinelli F, Mehta S, Di Lazzaro G, Latorre A, Edwards M, Balint B, et al.
Mov Disord
. 2021 Oct;
37(1):148-161.
PMID: 34622992
Background: Complex parkinsonism is the commonest phenotype in late-onset PLA2G6-associated neurodegeneration. Objectives: The aim of this study was to deeply characterize phenogenotypically PLA2G6-related parkinsonism in the largest cohort ever reported....