Publications:

Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Pharmaceuticals (Basel, Switzerland)

Michorowska, Sylwia S

Publication Date: 2021-08-09

Variant appearance in text: SCN1A: Y325X

PubMed Link: 34451881

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• pharmaceuticals-14-00785.pdf

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Progress of Induced Pluripotent Stem Cell Technologies to Understand Genetic Epilepsy.

International Journal Of Molecular Sciences

Sterlini, Bruno B; Fruscione, Floriana F; Baldassari, Simona S; Benfenati, Fabio F; Zara, Federico F; Corradi, Anna A

Publication Date: 2020-01-12

Variant appearance in text: SCN1A: Y325X

PubMed Link: 31940887

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• ijms-21-00482.pdf

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Model systems for studying cellular mechanisms of SCN1A-related epilepsy.

Journal Of Neurophysiology

Schutte, Soleil S SS; Schutte, Ryan J RJ; Barragan, Eden V EV; O'Dowd, Diane K DK

Publication Date: 2016-04

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PubMed Link: 26843603

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Concise Review: Exciting Cells: Modeling Genetic Epilepsies with Patient-Derived Induced Pluripotent Stem Cells.

Stem Cells (Dayton, Ohio)

Tidball, Andrew M AM; Parent, Jack M JM

Publication Date: 2016-01

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PubMed Link: 26373465

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Stem cells on the brain: modeling neurodevelopmental and neurodegenerative diseases using human induced pluripotent stem cells.

Journal Of Neurogenetics

Srikanth, Priya P; Young-Pearse, Tracy L TL

Publication Date: 2014

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PubMed Link: 24628482

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