Ryoko Fukai
Yokohama, Japan
Last Updated: 09/26/2026
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Found 30 publications
Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.
Journal: NPJ genomic medicine
Published: November 21, 2023
Molecular diagnosis of 405 individuals with autism spectrum disorder.
Journal: European journal of human genetics : EJHG
Published: December 11, 2022
Case Report: Anti-MOG Antibody Seroconversion Accompanied by Dimethyl Fumarate Treatment.
Journal: Frontiers in immunology
Published: November 03, 2020
SGTA associates with intracellular aggregates in neurodegenerative diseases.
Journal: Molecular brain
Published: August 25, 2020
Reply to "GGC Repeat Expansion of NOTCH2NLC is Rare in European Leukoencephalopathy".
Journal: Annals of neurology
Published: June 04, 2020
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy.
Journal: Annals of neurology
Published: June 12, 2019
Non-traumatic Acute Epidural Hematoma in Multiple Sclerosis Treated With Fingolimod.
Journal: Frontiers in neurology
Published: May 07, 2019
An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome.
Journal: Brain & development
Published: May 02, 2018
A Case of McLeod Syndrome with A Novel XK Missense Mutation.
Journal: Movement disorders clinical practice
Published: December 05, 2017
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.
Journal: European journal of medical genetics
Published: December 04, 2017
Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations.
Journal: Journal of human genetics
Published: August 08, 2017
Cerebrospinal fluid level of Nogo receptor 1 antagonist lateral olfactory tract usher substance (LOTUS) correlates inversely with the extent of neuroinflammation.
Journal: Journal of neuroinflammation
Published: July 12, 2017
Last Updated: 09/26/2026