Results 81 to 90 of about 1,896 (150)

Blood DNA methylation signature of cognitive reserve moderates the association between CSF tau pathology and memory in prodromal Alzheimer's disease

Alzheimer's &Dementia: Translational Research &Clinical Interventions, Volume 12, Issue 2, April/June 2026.
Abstract INTRODUCTION Cognitive reserve (CR) reflects variability in cognitive adaptability that modifies the impact of Alzheimer's disease (AD) pathology on cognition. However, blood‐based biomarkers of CR have not been established in prodromal AD.
David Lukacsovich, Juan I. Young, Lissette Gomez, Brian W. Kunkle, Zhixin Mao, Wei Zhang, X. Steven Chen, Deirdre M. O'Shea, Tatjana Rundek, Eden R. Martin, Lily Wang, for the Alzheimer's Disease Neuroimaging Initiative   +11 more
wiley   +1 more source

Dietary management for pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency, a follow‐on from the international consortium guidelines

JIMD Reports
Pyridoxine‐dependent epilepsy (PDE‐ALDH7A1) is a neurometabolic disorder in the lysine metabolism pathway. In 2014 and 2021, the International PDE consortium published consensus guidelines about diagnosis and management.
Marjorie Dixon, Chloe Millington, Laurie Bernstein, Curtis R. Coughlin II, Morgan Drumm, Sommer Gaughan, Clara D. M. vanKarnebeek, Annemiek M. J. vanWegberg   +7 more
doaj   +1 more source

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

Molecular Genetics and Metabolism Reports, 2016
We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative ...
B. Jaeger, N.G. Abeling, G.S. Salomons, E.A. Struys, M. Simas-Mendes, V.G. Geukers, B.T. Poll-The   +6 more
doaj   +1 more source

Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria

BMC Neurology
Background Pyridoxine-dependent epilepsy is primarily characterized by early-onset refractory seizures. This condition can be caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency due to a mutation in the ALDH7A1 gene, leading to the ...
Rida Jaber, Hadi Salame, Mostafa Zeindeen, Ali Jawad, Hassan Fawaz, Diana Alasmar   +5 more
doaj   +1 more source

Епілептичні енцефалопатії при вроджених порушеннях метаболізму в дітей раннього віку: фокус на піридоксин-залежній епілепсії

Сучасна педіатрія: Україна
Вроджені порушення метаболізму (ВПМ) є однією з найбільш значущих і водночас недостатньо діагностованих причин епілептичних енцефалопатій у дітей раннього віку. Колектив відділення дитячої неврології ДУ «Всеукраїнський центр материнства та дитинства НАМН
Yu.H. Antypkin, L.H. Kyrylova, O.O. Miroshnykiv, O.O. Dolenko, V.M. Badiuk   +4 more
doaj   +1 more source

Aldehyde dehydrogenase 7 family member A1 (ALDH7A1) [PDF]

Science-Business eXchange, 2010
openaire   +1 more source

Astrocyte redox imbalance underlies prelimbic neuronal hypoactivity and maladaptive affective behaviors in epilepsy. [PDF]

Sci Adv
Faust TE, Saito A, Ishikawa S, Yang K, Xin W, Namkung H, Agarwal A, Ramos A, Lee BJ, Hayes L, Srivastava R, Adelakun S, Saha S, Palen T, Cash-Padgett T, Wood DJ, Carloni E, Yusa R, Jaaro-Peled H, Fahey JW, Bergles DE, Ishizuka K, Sawa A.   +22 more
europepmc   +1 more source

Bis-(di-4-phenyl-benzylaminethiocarbonyl)disulfide sensitizes ABCC2/ALDH3A1 overexpressing NSCLC cells to cisplatin. [PDF]

Cancer Biol Ther
Kryczka J, Kryczka JM, Janczewski Ł, Shimida S, Frączyk A, Kolesińska B, Boncela J, Brzeziańska-Lasota E.   +7 more
europepmc   +1 more source

Pyridoxine-dependent and other pyridoxine-responsive epilepsies-insights into phenotype overlapping and the long-term outcome in a cohort of 21 children. [PDF]

Front Neurol
Kravljanac R, Vučetić Tadić B, Oparnica V.   +2 more
europepmc   +1 more source

Integrative expression profiling and comparative bioinformatics analysis of ALDH7A1 in chickpea (Cicer arietinum L.) under salt and ABA treatments. [PDF]

BMC Plant Biol
Demirel S, İncetekin M, Say A, Özaktan H, Gürcan K, Demirel F.   +5 more
europepmc   +1 more source