Results 231 to 240 of about 441,310 (305)

Is Parkinson's disease getting older? Demographic and modifiable determinants of age at onset in a large Italian tertiary care cohort. [PDF]

open access: yesJ Neurol
Contaldi E   +9 more
europepmc   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

open access: yesAnnals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov   +42 more
wiley   +1 more source

Alternative Translation Initiation in PRKN Delays the Onset of Parkinson's Disease and Offers a Therapeutic Target

open access: yesAnnals of Neurology, EarlyView.
Objective Biallelic variants in PRKN cause autosomal recessive Parkinson's disease (PD) with a median age at onset of 31 years. When evaluating the 16 previously published carriers of a homozygous deletion of Exon 2 from the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) database, the median age at onset is ...
Arian Hach   +14 more
wiley   +1 more source

The Age at Onset of LRRK2 p.Gly2019Ser Parkinson's Disease Across Ancestries and Countries of Origin

open access: yesAnnals of Neurology, EarlyView.
Objectives The objective of this study was to elucidate differences in the cumulative incidence of Leucine‐rich repeat kinase 2 (LRRK2) p.Gly2019Ser‐related Parkinson's disease (PD; LRRK2‐PD) between ancestries and countries. Methods We included 922 unrelated p.Gly2019Ser variant carriers (affected = 762 and unaffected = 160) from the Global Parkinson ...
Theresa Lüth   +14 more
wiley   +1 more source

Smartphone-Based Digital Phenotyping Across Health Conditions: Scoping Review.

open access: yesJ Med Internet Res
Dumas A   +4 more
europepmc   +1 more source

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