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Ryuta Fujioka

Showing results (1-10 of 16) with videos related to

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The Kurume Medical Journal|March 18, 2017
Essential Tremor with Aspartic AcidemiaShiroh Miura, Ryuta Fujioka, Takayuki Taniwaki
Clinical Case Reports|August 25, 2021
Plasma amino acids in patients with essential tremorShiroh Miura, Takashi Kamada, Ryuta Fujioka, et al.
Human Genome Variation|January 27, 2022
A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emiaLuoming Fan, Shiroh Miura, Tomofumi Shimojo, et al.
European Journal of Medical Genetics|June 24, 2017
A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathyShiroh Miura, Takuya Morikawa, Ryuta Fujioka, et al.
Journal of Human Genetics|May 29, 2024
Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translationTakuya Morikawa, Shiroh Miura, Yusuke Uchiyama, et al.
Journal of Human Genetics|March 11, 2021
Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEAShiroh Miura, Tomofumi Shimojo, Takuya Morikawa, et al.
European Journal of Medical Genetics|May 25, 2016
A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegiaShiroh Miura, Takuya Morikawa, Ryuta Fujioka, et al.
European Journal of Medical Genetics|July 19, 2018
Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14Shiroh Miura, Kengo Kosaka, Ryuta Fujioka, et al.
Biomedicines|May 16, 2023
Oleic Acid-Containing Phosphatidylinositol Is a Blood Biomarker Candidate for SPG28Takuya Morikawa, Masatomo Takahashi, Yoshihiro Izumi, et al.
Human Genome Variation|August 22, 2022
A Japanese family with dystonia due to a pathogenic variant in SGCETakuya Morikawa, Shiroh Miura, Luoming Fan, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
The Kurume Medical Journal|March 18, 2017
Essential Tremor with Aspartic AcidemiaShiroh Miura, Ryuta Fujioka, Takayuki Taniwaki
Clinical Case Reports|August 25, 2021
Plasma amino acids in patients with essential tremorShiroh Miura, Takashi Kamada, Ryuta Fujioka, et al.
Human Genome Variation|January 27, 2022
A novel 1-bp deletion variant in DAG1 in Japanese familial asymptomatic hyper-CK-emiaLuoming Fan, Shiroh Miura, Tomofumi Shimojo, et al.
European Journal of Medical Genetics|June 24, 2017
A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathyShiroh Miura, Takuya Morikawa, Ryuta Fujioka, et al.
Journal of Human Genetics|May 29, 2024
Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translationTakuya Morikawa, Shiroh Miura, Yusuke Uchiyama, et al.
Journal of Human Genetics|March 11, 2021
Familial paroxysmal kinesigenic dyskinesia with a novel missense variant (Arg2866Trp) in NBEAShiroh Miura, Tomofumi Shimojo, Takuya Morikawa, et al.
European Journal of Medical Genetics|May 25, 2016
A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegiaShiroh Miura, Takuya Morikawa, Ryuta Fujioka, et al.
European Journal of Medical Genetics|July 19, 2018
Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14Shiroh Miura, Kengo Kosaka, Ryuta Fujioka, et al.
Biomedicines|May 16, 2023
Oleic Acid-Containing Phosphatidylinositol Is a Blood Biomarker Candidate for SPG28Takuya Morikawa, Masatomo Takahashi, Yoshihiro Izumi, et al.
Human Genome Variation|August 22, 2022
A Japanese family with dystonia due to a pathogenic variant in SGCETakuya Morikawa, Shiroh Miura, Luoming Fan, et al.
Pageof 2