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Satoko Miyatake

Showing results (21-30 of 212) with videos related to

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Molecular Genetics & Genomic Medicine|November 26, 2024
A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional AnalysisShinji Masuko, Mitsuto Sato, Katsuya Nakamura, et al.
Seizure|June 9, 2019
Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutationNobutsune Ishikawa, Yuichi Tateishi, Hiroo Tani, et al.
Journal of Human Genetics|August 31, 2012
Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severitySatoko Miyatake, Hajime Touho, Noriko Miyake, et al.
Journal of Human Genetics|October 17, 2023
Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of JapanKeiichi Mizushima, Yuka Shibata, Shinichi Shirai, et al.
The Journal of Dermatology|January 8, 2020
Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidilKentaro Ohko, Kimiko Nakajima, Hideki Nakajima, et al.
World Neurosurgery|April 29, 2019
Malignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 MutationJun Watanabe, Kouichirou Okamoto, Tsukasa Ohashi, et al.
Journal of Human Genetics|May 22, 2019
A novel de novo frameshift variant in SETD1B causes epilepsyKouhei Den, Mitsuhiro Kato, Tokito Yamaguchi, et al.
Internal Medicine (Tokyo, Japan)|February 18, 2024
A Novel Mutation of VPS13D-related Disorders with ParkinsonismShizuka Harada, Yoshiteru Azuma, Yohei Misumi, et al.
Epilepsy & Behavior Reports|June 23, 2022
Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplicationTakuya Masuda, Hitoshi Osaka, Naomi Tsuchida, et al.
Internal Medicine (Tokyo, Japan)|November 5, 2008
Heart rate variability and hypercapnia in Duchenne muscular dystrophyHitoshi Mochizuki, Satomi Okahashi, Yoshikazu Ugawa, et al.
Pageof 22

Showing results (21-30 of 212) with videos related to

Sort By:
Pageof 22
Molecular Genetics & Genomic Medicine|November 26, 2024
A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine-Derived Cells-Based Functional AnalysisShinji Masuko, Mitsuto Sato, Katsuya Nakamura, et al.
Seizure|June 9, 2019
Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutationNobutsune Ishikawa, Yuichi Tateishi, Hiroo Tani, et al.
Journal of Human Genetics|August 31, 2012
Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severitySatoko Miyatake, Hajime Touho, Noriko Miyake, et al.
Journal of Human Genetics|October 17, 2023
Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of JapanKeiichi Mizushima, Yuka Shibata, Shinichi Shirai, et al.
The Journal of Dermatology|January 8, 2020
Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidilKentaro Ohko, Kimiko Nakajima, Hideki Nakajima, et al.
World Neurosurgery|April 29, 2019
Malignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 MutationJun Watanabe, Kouichirou Okamoto, Tsukasa Ohashi, et al.
Journal of Human Genetics|May 22, 2019
A novel de novo frameshift variant in SETD1B causes epilepsyKouhei Den, Mitsuhiro Kato, Tokito Yamaguchi, et al.
Internal Medicine (Tokyo, Japan)|February 18, 2024
A Novel Mutation of VPS13D-related Disorders with ParkinsonismShizuka Harada, Yoshiteru Azuma, Yohei Misumi, et al.
Epilepsy & Behavior Reports|June 23, 2022
Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplicationTakuya Masuda, Hitoshi Osaka, Naomi Tsuchida, et al.
Internal Medicine (Tokyo, Japan)|November 5, 2008
Heart rate variability and hypercapnia in Duchenne muscular dystrophyHitoshi Mochizuki, Satomi Okahashi, Yoshikazu Ugawa, et al.
Pageof 22