Results 101 to 110 of about 2,516,365 (158)

Mutations in the aldh7a1 gene cause pyridoxine-dependent seizures

Arquivos de Neuro-Psiquiatria, 2008
Jasper V. Been, Levinus A. Bok, Michèl A.A.P. Willemsen, Eduard A. Struys, Cornelis Jakobs   +4 more
doaj   +1 more source

Data_Sheet_1_Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study.pdf

PurposePyridoxine-dependent epilepsy due to ALDH7A1 variants (PDE-ALDH7A1) is a rare disorder, presenting typically with severe neonatal, epileptic encephalopathy. Early diagnosis is imperative to prevent uncontrolled seizures.
Vibeke Arntsen (17962370), Erle Kristensen (17962379), Guste Kupliauskiene (17962382), Trond Sand (81210), Alma Sikiric (17962376), Laurence A. Bindoff (10846037), Eylert Brodtkorb (11842434), Ahmed Jamali (17962373), Sigurbjörg Stefansdottir (17962385), Trine Tangeraas (9104654)   +9 more
core   +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

RASGEF1B suppresses hepatocellular carcinoma through the ALDH7A1/Betaine/SNAI1 metabolic‒epigenetic axis. [PDF]

J Transl Med
Guo Z, Tan K, Li Z, Ren Y, Dai Y, Jin M, Fu Y, Hu Y, Guo J, Zhang M, Liu C, Fu S, Shen F.   +12 more
europepmc   +1 more source

Early-onset pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: the first genetically confirmed case from Palestine. [PDF]

Ann Med Surg (Lond)
Pujee BK, Mujahed R, Thabaineh RW, Ghayyada S, Tbaisha D, Atwan MY, Shawabka AM.   +6 more
europepmc   +1 more source

Classical and Emerging Biomarkers in Pyridoxine-Dependent Epilepsy (PDE-ALDH7A1): Implications for Early Diagnosis and Therapeutic Development. [PDF]

Biomolecules
Abedrabbo M, Al Yazeedi S, Leavitt BR, Al-Shekaili H.   +3 more
europepmc   +1 more source

Uncovering metabolic reprogramming in ovarian and cervical cancers with multi-omics. [PDF]

iScience
Ge Y, Luo Y, Hao B, Zhou Y, Wu R, Liu H, Tang L, Li Y, Li Y, Gong S, Liu H.   +10 more
europepmc   +1 more source

Gene A. Chesley papers

Gene A. Chesley (1935-1981) was a highly regarded scenic designer, theatre historian, and teacher. Chesley taught in the Dramatic Art Deparment at the University of California Davis from 1963 until his death at age 46 in 1981.
Chesley, Gene A.
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