Results 141 to 149 of about 2,694,828 (149)

EPS8 Supports Pancreatic Cancer Growth by Inhibiting BMI1 Mediated Proteasomal Degradation of ALDH7A1

Experimental Cell Research, 2021
Xiaowei Fu, Jun Meng
exaly  

Pyridoxine-Dependent Epilepsy (PDE-ALDH7A1) in Adulthood: A Dutch Pilot Study Exploring Clinical and Patient-Reported Outcomes

Molecular Genetics and Metabolism Reports, 2022
Sidney M Gospe, R F Neuteboom
exaly  

First Cases of Pyridoxine-Dependent Epilepsy in Bulgaria: Novel Mutation in the ALDH7A1 Gene

Neurological Sciences, 2015
Tihomir Todorov, Bilyana Georgieva
exaly  

Novel Therapy for Pyridoxine Dependent Epilepsy Due to ALDH7A1 Genetic Defect: L-Arginine Supplementation Alternative to Lysine-Restricted Diet

European Journal of Paediatric Neurology, 2014
Saadet Mercimek-Mahmutoglu, Eduard A Struys, Eva Mamak   +2 more
exaly  

Identification of a Novel Missense Mutation in the ALDH7A1 Gene in Two Unrelated Tunisian Families With Pyridoxine-Dependent Epilepsy

Molecular Biology Reports, 2013
Mehdi FAKHFAKH, Abdelaziz Tlili
exaly  

Long-Term Follow-Up in Two Siblings With Pyridoxine-Dependent Seizures Associated With a Novel ALDH7A1 Mutation

European Journal of Paediatric Neurology, 2011
Luigina Spaccini, Federico Zara, Denise Cassandrini   +2 more
exaly  

Structural Analysis of Pathogenic Mutations Targeting Glu427 of ALDH7A1, the Hot Spot Residue of Pyridoxine-Dependent Epilepsy

Journal of Inherited Metabolic Disease, 2020
John J Tanner, Kent S Gates, David A. Korasick   +2 more
exaly  

ALDH7A1 Expression Is Associated With Recurrence in Patients With Surgically Resected Non-Small-Cell Lung Carcinoma

Future Oncology, 2013
Bo Lu, Robert B. Den, Pierre P. Massion
exaly  

Atypical Pyridoxine Dependent Epilepsy Resulting From a New Homozygous Missense Mutation, in ALDH7A1

Seizure: the Journal of the British Epilepsy Association, 2018
Eliane Chouery, André Mégarbané, Nadine Jalkh   +2 more
exaly