Results 51 to 60 of about 224 (67)

The Molecular Function of PURA and Its Implications in Neurological Diseases

Frontiers in Genetics, 2021
Lena Molitor, Dierk Niessing
exaly  

Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders

Brain and Development, 2021
Soo Yeon Kim, Byung Chan Lim
exaly  

Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options

International Journal of Molecular Sciences, 2023
Magdalena Mroczek
exaly  

Discovery and validation of PURA as a transcription target of 20(S)-protopanaxadiol: Implications for the treatment of cognitive dysfunction

Journal of Ginseng Research, 2023
Feiyan Chen, Yu-Nan Zhao
exaly  

PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications

Neuromuscular Disorders, 2022
Vanda McNiven, James E Dowling
exaly  

Genome-wide CRISPR/Cas9 screening identifies a targetable MEST-PURA interaction in cancer metastasis

EBioMedicine, 2023
Bin Li
exaly  

Hypotonic infant with PURA syndrome-related channelopathy successfully treated with pyridostigmine

Neuromuscular Disorders, 2022
Rita Wyrebek, Thomas Geller
exaly  

A frame-shift deletion in the PURA gene associates with a new clinical finding: Hypoglycorrhachia. Is GLUT1 a new PURA target?

Molecular Genetics and Metabolism, 2018
Lía Mayorga
exaly  

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Journal of Medical Genetics, 2018
Robert Janowski, Jay E Self, Maaike Vreeburg   +2 more
exaly  

Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA

Molecular Cytogenetics, 2015
Maria Clara Bonaglia, Nicoletta Zanotta, Roberto Giorda   +2 more
exaly