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Norio Sakai

Showing results (171-180 of 272) with videos related to

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Genes|November 13, 2020
Leigh Syndrome Due to <i>NDUFV1</i> Mutations Initially Presenting as LBSLNurun Nahar Borna, Yoshihito Kishita, Norio Sakai, et al.
Neurobiology of Disease|December 2, 2008
Mutant gammaPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cellsTakahiro Seki, Takayuki Shimahara, Kazuhiro Yamamoto, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 1, 2019
Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 TrialTorayuki Okuyama, Yoshikatsu Eto, Norio Sakai, et al.
The Journal of Biological Chemistry|May 24, 2008
Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasisNaoko Adachi, Takeshi Kobayashi, Hideyuki Takahashi, et al.
Orphanet Journal of Rare Diseases|March 8, 2024
Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in JapanKimitoshi Nakamura, Norio Sakai, Mohammad Arif Hossain, et al.
The Journal of Biological Chemistry|June 11, 2002
Induction of apoptosis by protein kinase C delta is independent of its kinase activityAxel Goerke, Norio Sakai, Elisabeth Gutjahr, et al.
Gene|November 6, 2012
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1Tomoko Lee, Yasuhiro Takeshima, Yo Okizuka, et al.
European Journal of Pediatrics|May 13, 2005
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathyKunihiko Takahashi, Shigetoyo Kogaki, Shunji Kurotobi, et al.
Molecular Pharmacology|May 22, 2002
Inducible and brain region-specific CREB transgenic miceNorio Sakai, Johannes Thome, Samuel S Newton, et al.
Clinical Case Reports|January 2, 2026
First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome SequencingEriko Nishi, Kumiko Yanagi, Morimasa Shima, et al.
Pageof 28

Showing results (171-180 of 272) with videos related to

Sort By:
Pageof 28
Genes|November 13, 2020
Leigh Syndrome Due to <i>NDUFV1</i> Mutations Initially Presenting as LBSLNurun Nahar Borna, Yoshihito Kishita, Norio Sakai, et al.
Neurobiology of Disease|December 2, 2008
Mutant gammaPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cellsTakahiro Seki, Takayuki Shimahara, Kazuhiro Yamamoto, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 1, 2019
Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 TrialTorayuki Okuyama, Yoshikatsu Eto, Norio Sakai, et al.
The Journal of Biological Chemistry|May 24, 2008
Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasisNaoko Adachi, Takeshi Kobayashi, Hideyuki Takahashi, et al.
Orphanet Journal of Rare Diseases|March 8, 2024
Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in JapanKimitoshi Nakamura, Norio Sakai, Mohammad Arif Hossain, et al.
The Journal of Biological Chemistry|June 11, 2002
Induction of apoptosis by protein kinase C delta is independent of its kinase activityAxel Goerke, Norio Sakai, Elisabeth Gutjahr, et al.
Gene|November 6, 2012
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1Tomoko Lee, Yasuhiro Takeshima, Yo Okizuka, et al.
European Journal of Pediatrics|May 13, 2005
A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathyKunihiko Takahashi, Shigetoyo Kogaki, Shunji Kurotobi, et al.
Molecular Pharmacology|May 22, 2002
Inducible and brain region-specific CREB transgenic miceNorio Sakai, Johannes Thome, Samuel S Newton, et al.
Clinical Case Reports|January 2, 2026
First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome SequencingEriko Nishi, Kumiko Yanagi, Morimasa Shima, et al.
Pageof 28