Results 151 to 160 of about 223,994 (298)

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

Annals 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, Katja Lohmann, Manabu Funayama, Poornima J. Menon, Eva‐Juliane Vollstedt, Teresa Kleinz, Hiroyo Yoshino, Suzanne Lesage, Britta Meier, Carolyn M. Sue, Jean‐Christophe Corvol, Alexis Brice, Nobutaka Hattori, Christine Klein, Aleksandar Rakovic   +14 more
wiley   +1 more source

Proteomic Studies in Absence Epilepsy: A Systematic Review of Methodological Diversity and Implications for Data Interpretation. [PDF]

Curr Issues Mol Biol
Gunel A.
europepmc   +1 more source

Chronological Diagnostic Algorithm Predicting Neuropathology in Parkinsonism

Annals 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, Hiroaki Sekiya, Alexia R. Maier, Neill R. Graff‐Radford, Zbigniew K. Wszolek, Dennis W. Dickson   +5 more
wiley   +1 more source

Ictal body turning and version in generalized epilepsy. [PDF]

BMC Neurol
Nagabushana D, Huynh H, Kabir N, Serafini A.   +3 more
europepmc   +1 more source

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

Annals 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, Katheryn A.Q. Cousins, Magdalena Korecka, Emily McGrew, Alice Chen‐Plotkin, John A. Detre, Corey T. McMillan, Edward B. Lee, Sandhitsu R. Das, Dawn Mechanic‐Hamilton, Paul A. Yushkevich, Ilya M. Nasrallah, Leslie M. Shaw, for the Alzheimer's Disease Neuroimaging Initiative, David A. Wolk   +14 more
wiley   +1 more source

Foundational Work in Absence Epilepsy: Laying the Groundwork and Establishing the Gold-Standard. [PDF]

Epilepsy Curr
Fine AL.
europepmc   +1 more source

High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective SOD1 is the second most frequently mutated gene in European patients with amyotrophic lateral sclerosis (ALS). Given the recent authorization of SOD1‐targeted antisense oligonucleotides for SOD1‐ALS, prompt screening for SOD1 mutations in patients with ALS patients is highly recommended.
Delia Gagliardi, Chiara Villella, Matteo Zanovello, Virginia Iacobelli, Stefania Corti, Giacomo Pietro Comi, Pietro Fratta, Henry Houlden, Arianna Tucci, Dario Ronchi   +9 more
wiley   +1 more source

Epilepsy Treatment Outcome and Associated Factors in Children and Adolescents in a Resource-limited Setting: A Retrospective Cohort Study. [PDF]

Clin Med Insights Pediatr
Shibeshi MS, Gari KT.
europepmc   +1 more source

Novel Monoclonal Antibody Detects Small Aβ Oligomers More Sensitively Than Lecanemab in Alzheimer's Disease CSF, Serum and Culture Media

Annals of Neurology, EarlyView.
Objective Aqueously diffusible oligomers of the amyloid β‐protein (oAβ) are neurotoxic and play a role in neuronal dysfunction in Alzheimer's disease (AD). Accurate quantification of oAβ in brains and biofluids could be valuable for understanding and monitoring AD.
Yi Ran Xu, Youqi Tao, Alexandra M. Lish, Shaomin Li, Beth L. Ostaszewski, Amirah K. Anderson, Tracy Young‐Pearse, Trebor L. Lawton, Hyun‐Sik Yang, Dominic M. Walsh, Ting Yang, Dennis J. Selkoe   +11 more
wiley   +1 more source

Diagnostic Dilemma in an Infant With Sound-Triggered Motor Events: Reflex Epilepsy Versus Exaggerated Startle-A Case Report. [PDF]

Clin Case Rep
Pandit A, Koirala M, Shahi A, Sharma A, Panta A, Rimal S.   +5 more
europepmc   +1 more source