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Plos One|January 26, 2016
Corticotropin-Releasing Hormone Receptor 2 Gene Variants in Irritable Bowel SyndromeHazuki Komuro, Naoko Sato, Ayaka Sasaki, et al.
Human Mutation|May 14, 2020
The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domainRumiko Izumi, Toshiaki Takahashi, Naoki Suzuki, et al.
Stem Cell Research|July 14, 2020
Generation of an ALS human iPSC line KEIOi001-A from peripheral blood of a Charcot disease-affected patient carrying TARDBP p.N345K heterozygous SNP mutationNicolas Leventoux, Satoru Morimoto, Kenju Hara, et al.
Rinsho Shinkeigaku = Clinical Neurology|January 21, 2026
Addendum to the 2023 clinical practice guidelines for amyotrophic lateral sclerosis in Japan: approval and integration of novel disease-modifying therapiesHitoshi Warita, Makoto Urushitani, Naoki Atsuta, et al.
Journal of Human Genetics|March 13, 2010
FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusionNaoki Suzuki, Masashi Aoki, Hitoshi Warita, et al.
Cerebellum (London, England)|February 7, 2024
Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle CrampsRumiko Izumi, Hitoshi Warita, Tetsuya Niihori, et al.
Plos One|December 15, 2010
An inducer of VGF protects cells against ER stress-induced cell death and prolongs survival in the mutant SOD1 animal models of familial ALSMasamitsu Shimazawa, Hirotaka Tanaka, Yasushi Ito, et al.
Rinsho Shinkeigaku = Clinical Neurology|March 24, 2024
The clinical practice guideline for the management of amyotrophic lateral sclerosis in Japan-update 2023Makoto Urushitani, Hitoshi Warita, Naoki Atsuta, et al.
Neurology. Genetics|April 12, 2016
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencingRumiko Izumi, Tetsuya Niihori, Toshiaki Takahashi, et al.
Journal of Human Genetics|March 1, 2013
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failureRumiko Izumi, Tetsuya Niihori, Yoko Aoki, et al.
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