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Hiroyuki Awano

Showing results (111-120 of 152) with videos related to

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Human Genome Variation|March 22, 2024
A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiencyNaoko Nakatani, Akihiro Tamura, Hiroaki Hanafusa, et al.
Journal of Infection and Chemotherapy : Official Journal of the Japan Society of Chemotherapy|January 28, 2020
Acute rhabdomyolysis following viral infection with coxsackie A4 in a 50-day-old infant with Fukuyama congenital muscular dystrophyHiroshi Yamaguchi, Mariko Taniguchi-Ikeda, Hiroaki Nagase, et al.
Scientific Reports|July 18, 2014
Mirror-symmetric magneto-optical Kerr rotation using visible light in [(GeTe)2(Sb2Te3)1]n topological superlatticesDo Bang, Hiroyuki Awano, Junji Tominaga, et al.
American Journal of Medical Genetics. Part A|July 5, 2022
Detecting pathogenic deep intronic variants in Gitelman syndromeRini Rossanti, Tomoko Horinouchi, Nana Sakakibara, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|July 23, 2014
Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene deliveryChunping Qiao, Chi-Hsien Wang, Chunxia Zhao, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|September 12, 2021
FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patientsHiroyuki Awano, Yoshihiko Saito, Mamiko Shimizu, et al.
Genes|February 25, 2022
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular AtrophyEmma Tabe Eko Niba, Hisahide Nishio, Yogik Onky Silvana Wijaya, et al.
Brain & Development|June 6, 2017
Cardiac involvement in Fukuyama muscular dystrophy is less severe than in Duchenne muscular dystrophyTetsushi Yamamoto, Mariko Taniguchi-Ikeda, Hiroyuki Awano, et al.
Journal of Human Genetics|January 8, 2016
Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband motherMariko Taniguchi-Ikeda, Yasuhiro Takeshima, Tomoko Lee, et al.
Muscle & Nerve|January 8, 2025
The N-Terminal Fragment of Urine Titin Is Not a Product of Degradation by Calpain 3Yoshinori Nambu, Tsuyoshi Matsumura, Kyoka Machida, et al.
Pageof 16

Showing results (111-120 of 152) with videos related to

Sort By:
Pageof 16
Human Genome Variation|March 22, 2024
A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiencyNaoko Nakatani, Akihiro Tamura, Hiroaki Hanafusa, et al.
Journal of Infection and Chemotherapy : Official Journal of the Japan Society of Chemotherapy|January 28, 2020
Acute rhabdomyolysis following viral infection with coxsackie A4 in a 50-day-old infant with Fukuyama congenital muscular dystrophyHiroshi Yamaguchi, Mariko Taniguchi-Ikeda, Hiroaki Nagase, et al.
Scientific Reports|July 18, 2014
Mirror-symmetric magneto-optical Kerr rotation using visible light in [(GeTe)2(Sb2Te3)1]n topological superlatticesDo Bang, Hiroyuki Awano, Junji Tominaga, et al.
American Journal of Medical Genetics. Part A|July 5, 2022
Detecting pathogenic deep intronic variants in Gitelman syndromeRini Rossanti, Tomoko Horinouchi, Nana Sakakibara, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|July 23, 2014
Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene deliveryChunping Qiao, Chi-Hsien Wang, Chunxia Zhao, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|September 12, 2021
FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patientsHiroyuki Awano, Yoshihiko Saito, Mamiko Shimizu, et al.
Genes|February 25, 2022
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular AtrophyEmma Tabe Eko Niba, Hisahide Nishio, Yogik Onky Silvana Wijaya, et al.
Brain & Development|June 6, 2017
Cardiac involvement in Fukuyama muscular dystrophy is less severe than in Duchenne muscular dystrophyTetsushi Yamamoto, Mariko Taniguchi-Ikeda, Hiroyuki Awano, et al.
Journal of Human Genetics|January 8, 2016
Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband motherMariko Taniguchi-Ikeda, Yasuhiro Takeshima, Tomoko Lee, et al.
Muscle & Nerve|January 8, 2025
The N-Terminal Fragment of Urine Titin Is Not a Product of Degradation by Calpain 3Yoshinori Nambu, Tsuyoshi Matsumura, Kyoka Machida, et al.
Pageof 16