Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Yohei Sugiyama

Showing results (11-20 of 21) with videos related to

Pageof 3
Sort By:
Molecular Genetics and Metabolism Reports|July 17, 2020
Therapeutic effect of <i>N</i>-carbamylglutamate in CPS1 deficiencyYohei Sugiyama, Masaru Shimura, Minako Ogawa-Tominaga, et al.
Molecular Genetics & Genomic Medicine|January 16, 2025
Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic AnalysisKohta Nakamura, Yukiko Yatsuka, Sachie Naito, et al.
Scientific Reports|December 12, 2023
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorderChupong Ittiwut, Rungnapa Ittiwut, Chulaluck Kuptanon, et al.
Mitochondrion|December 21, 2021
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > AMasaru Shimura, Takanori Onuki, Yohei Sugiyama, et al.
Orphanet Journal of Rare Diseases|July 24, 2025
Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophyTakanori Onuki, Makiko Tajika, Yohei Sugiyama, et al.
Molecular Genetics and Metabolism Reports|September 5, 2022
Severe spinal cord hypoplasia due to a novel <i>ATAD3A</i> compound heterozygous deletionTomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, et al.
NPJ Genomic Medicine|October 25, 2024
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathyKokoro Ozaki, Yukiko Yatsuka, Yoshinobu Oyazato, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|October 9, 2021
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosisTomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, et al.
Brain & Development|December 30, 2025
Ferroptosis susceptibility in primary coenzyme Q<sub>10</sub> deficiency: Cellular insights from patient fibroblasts and clinical course of six individualsChika Watanabe, Akihiko Miyauchi, Shiho Aoki, et al.
Orphanet Journal of Rare Diseases|July 25, 2020
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantationMasaru Shimura, Naomi Kuranobu, Minako Ogawa-Tominaga, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Molecular Genetics and Metabolism Reports|July 17, 2020
Therapeutic effect of <i>N</i>-carbamylglutamate in CPS1 deficiencyYohei Sugiyama, Masaru Shimura, Minako Ogawa-Tominaga, et al.
Molecular Genetics & Genomic Medicine|January 16, 2025
Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic AnalysisKohta Nakamura, Yukiko Yatsuka, Sachie Naito, et al.
Scientific Reports|December 12, 2023
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorderChupong Ittiwut, Rungnapa Ittiwut, Chulaluck Kuptanon, et al.
Mitochondrion|December 21, 2021
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > AMasaru Shimura, Takanori Onuki, Yohei Sugiyama, et al.
Orphanet Journal of Rare Diseases|July 24, 2025
Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophyTakanori Onuki, Makiko Tajika, Yohei Sugiyama, et al.
Molecular Genetics and Metabolism Reports|September 5, 2022
Severe spinal cord hypoplasia due to a novel <i>ATAD3A</i> compound heterozygous deletionTomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, et al.
NPJ Genomic Medicine|October 25, 2024
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathyKokoro Ozaki, Yukiko Yatsuka, Yoshinobu Oyazato, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|October 9, 2021
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosisTomohiro Ebihara, Taro Nagatomo, Yohei Sugiyama, et al.
Brain & Development|December 30, 2025
Ferroptosis susceptibility in primary coenzyme Q<sub>10</sub> deficiency: Cellular insights from patient fibroblasts and clinical course of six individualsChika Watanabe, Akihiko Miyauchi, Shiho Aoki, et al.
Orphanet Journal of Rare Diseases|July 25, 2020
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantationMasaru Shimura, Naomi Kuranobu, Minako Ogawa-Tominaga, et al.
Pageof 3