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Publications by Yuka Ogawa

A Novel CACNA1A Nonsense Variant in a Patient Presenting With Paroxysmal Exertion-Induced Dyskinesia

Journal of the Neurological Sciences

English

Related publications

Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family With Episodic Ataxia 2

Multidisciplinary

English

Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De Novo CACNA1A Variant

Pediatric Neurology

Developmental Neuroscience

English

Paroxysmal Kinesigenic Dyskinesia

English

Identification of a Novel Nonsense Mutation in POLH in a Chinese Pedigree With Xeroderma Pigmentosum, Variant Type

International Journal of Medical Sciences

English

Nonsense Suppression Induced Readthrough of a Novel PAX6 Mutation in Patient‐derived Cells of Congenital Aniridia

Molecular genetics & genomic medicine

Molecular Biology

English

A Novel Nonsense Mutation of the PEPD Gene in a Japanese Patient With Prolidase Deficiency

Journal of Human Genetics

English

PRRT2 Mutation in a Sporadic Case of Paroxysmal Kinesigenic Dyskinesia

Juntendo Medical Journal

English

KAT6B-related Disorder in a Patient With a Novel Frameshift Variant (C.3925dup)

Human Genome Variation

Molecular Biology

English

Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome

English