Results 191 to 200 of about 2,372,972 (378)

Cognitive phenotype of juvenile absence epilepsy: An investigation of patients and unaffected siblings. [PDF]

open access: yesEpilepsia, 2023
Caciagli L   +11 more
europepmc   +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

Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy

open access: yesAnnals of Neurology, 2017
T. Glauser   +10 more
semanticscholar   +1 more source

Chronological Diagnostic Algorithm Predicting Neuropathology in Parkinsonism

open access: yesAnnals of Neurology, EarlyView.
Objective Pre‐mortem diagnosis of parkinsonism is often challenging due to atypical presentations, overlapping syndromes, and co‐pathologies. This study aimed to develop a machine learning‐based algorithm predicting neuropathology in parkinsonism using chronological clinical presentations, which has previously been underexplored.
Daisuke Ono   +5 more
wiley   +1 more source

Temporal Modeling of Amyloid and Tau Trajectories in Alzheimer's Disease Using PET and Plasma Biomarkers

open access: yesAnnals of Neurology, EarlyView.
Objective This study aimed to compare positron emission tomography (PET) and plasma‐based temporal modeling of amyloid and tau biomarkers in Alzheimer's disease. Methods Longitudinal amyloid PET (n = 1,097, mean age ± SD = 72.5 ± 7.38 year, 51.4% male), 18F‐flortaucipir tau‐PET (n = 230, 74.3 ± 7.18 year, 52.2% female), and Fujirebio Lumipulse plasma p‐
Christopher A. Brown   +14 more
wiley   +1 more source

Functional brain network characteristics are associated with epilepsy severity in childhood absence epilepsy

open access: gold, 2020
Gerhard S. Drenthen   +9 more
openalex   +1 more source

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