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

Ikuya Nonaka

Showing results (21-30 of 169) with videos related to

Pageof 17
Sort By:
Internal Medicine (Tokyo, Japan)|June 2, 2007
LAMP-2 positive vacuolar myopathy with dilated cardiomyopathySeiichiro Sugimoto, Kazutaka Shiomi, Ayaka Yamamoto, et al.
Neuromuscular Disorders : NMD|February 24, 2005
Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian womanKhean Jin Goh, Kum Thong Wong, Ichizo Nishino, et al.
Rinsho Shinkeigaku = Clinical Neurology|January 20, 2004
[Dropped head plus syndrome; a case report]Kotaro Morino, Yasusi Kita, Yukihiro Yoneda, et al.
Brain & Development|September 29, 2009
Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiencyKiyoko Ishii, Hirofumi Komaki, Aya Ohkuma, et al.
Journal of Neuropathology and Experimental Neurology|November 13, 2020
Evaluation of the Core Formation Process in Congenital Neuromuscular Disease With Uniform Type 1 Fiber and Central Core DiseaseMasashi Ogasawara, Megumu Ogawa, Ikuya Nonaka, et al.
Brain & Development|October 20, 2012
14-3-3 proteins, particularly of the epsilon isoform, are detectable in cerebrospinal fluids of cerebellar diseases in childrenKatsunori Fujii, Hideki Uchikawa, Yuzo Tanabe, et al.
Annals of Neurology|July 12, 2002
A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletionsHirofumi Komaki, Toshiyuki Fukazawa, Hideki Houzen, et al.
Human Molecular Genetics|December 14, 2006
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathyMay Christine V Malicdan, Satoru Noguchi, Ikuya Nonaka, et al.
Neuromuscular Disorders : NMD|May 29, 2002
Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA geneTatsuya Yamasoba, Yu ichi Goto, Yoshitomo Oka, et al.
Human Molecular Genetics|August 21, 2007
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathyMay Christine V Malicdan, Satoru Noguchi, Ikuya Nonaka, et al.
Pageof 17

Showing results (21-30 of 169) with videos related to

Sort By:
Pageof 17
Internal Medicine (Tokyo, Japan)|June 2, 2007
LAMP-2 positive vacuolar myopathy with dilated cardiomyopathySeiichiro Sugimoto, Kazutaka Shiomi, Ayaka Yamamoto, et al.
Neuromuscular Disorders : NMD|February 24, 2005
Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian womanKhean Jin Goh, Kum Thong Wong, Ichizo Nishino, et al.
Rinsho Shinkeigaku = Clinical Neurology|January 20, 2004
[Dropped head plus syndrome; a case report]Kotaro Morino, Yasusi Kita, Yukihiro Yoneda, et al.
Brain & Development|September 29, 2009
Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiencyKiyoko Ishii, Hirofumi Komaki, Aya Ohkuma, et al.
Journal of Neuropathology and Experimental Neurology|November 13, 2020
Evaluation of the Core Formation Process in Congenital Neuromuscular Disease With Uniform Type 1 Fiber and Central Core DiseaseMasashi Ogasawara, Megumu Ogawa, Ikuya Nonaka, et al.
Brain & Development|October 20, 2012
14-3-3 proteins, particularly of the epsilon isoform, are detectable in cerebrospinal fluids of cerebellar diseases in childrenKatsunori Fujii, Hideki Uchikawa, Yuzo Tanabe, et al.
Annals of Neurology|July 12, 2002
A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletionsHirofumi Komaki, Toshiyuki Fukazawa, Hideki Houzen, et al.
Human Molecular Genetics|December 14, 2006
A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathyMay Christine V Malicdan, Satoru Noguchi, Ikuya Nonaka, et al.
Neuromuscular Disorders : NMD|May 29, 2002
Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA geneTatsuya Yamasoba, Yu ichi Goto, Yoshitomo Oka, et al.
Human Molecular Genetics|August 21, 2007
A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathyMay Christine V Malicdan, Satoru Noguchi, Ikuya Nonaka, et al.
Pageof 17