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Mitsuko Nakashima

Showing results (101-110 of 208) with videos related to

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Neuromuscular Disorders : NMD|May 24, 2014
Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathySatoko Miyatake, Eriko Koshimizu, Yukiko K Hayashi, et al.
Journal of Human Genetics|January 11, 2019
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21Takeshi Mizuguchi, Mitsuko Nakashima, Lip H Moey, et al.
Epilepsia|November 28, 2015
De novo DNM1 mutations in two cases of epileptic encephalopathyMitsuko Nakashima, Takeshi Kouga, Charles Marques Lourenço, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 14, 2016
RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasiaDaniella Nishri, Hadassa Goldberg-Stern, Iris Noyman, et al.
Journal of Human Genetics|April 29, 2020
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasmsMitsuko Nakashima, Mitsuhiro Kato, Masaru Matsukura, et al.
Human Mutation|April 14, 2025
A Novel Constitutively Active <i>c</i>.98<i>G</i> > <i>C</i>, p.(R33P) Variant in <i>RAB11A</i> Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial ArborizationYumi Tsuneura, Taeko Kawai, Keitaro Yamada, et al.
Plos One|June 2, 2015
An aberrant splice acceptor site due to a novel intronic nucleotide substitution in MSX1 gene is the cause of congenital tooth agenesis in a Japanese familyTadashi Tatematsu, Masashi Kimura, Mitsuko Nakashima, et al.
Human Genome Variation|April 16, 2016
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndromeEri Imagawa, Ryoko Fukai, Mahdiyeh Behnam, et al.
Seizure|January 27, 2019
Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)Shinsaku Yoshitomi, Yukitoshi Takahashi, Katsumi Imai, et al.
Epilepsy & Behavior Reports|January 25, 2021
Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature reviewAtsuko Arisaka, Mitsuko Nakashima, Satoko Kumada, et al.
Pageof 21

Showing results (101-110 of 208) with videos related to

Sort By:
Pageof 21
Neuromuscular Disorders : NMD|May 24, 2014
Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathySatoko Miyatake, Eriko Koshimizu, Yukiko K Hayashi, et al.
Journal of Human Genetics|January 11, 2019
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21Takeshi Mizuguchi, Mitsuko Nakashima, Lip H Moey, et al.
Epilepsia|November 28, 2015
De novo DNM1 mutations in two cases of epileptic encephalopathyMitsuko Nakashima, Takeshi Kouga, Charles Marques Lourenço, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 14, 2016
RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasiaDaniella Nishri, Hadassa Goldberg-Stern, Iris Noyman, et al.
Journal of Human Genetics|April 29, 2020
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasmsMitsuko Nakashima, Mitsuhiro Kato, Masaru Matsukura, et al.
Human Mutation|April 14, 2025
A Novel Constitutively Active <i>c</i>.98<i>G</i> > <i>C</i>, p.(R33P) Variant in <i>RAB11A</i> Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial ArborizationYumi Tsuneura, Taeko Kawai, Keitaro Yamada, et al.
Plos One|June 2, 2015
An aberrant splice acceptor site due to a novel intronic nucleotide substitution in MSX1 gene is the cause of congenital tooth agenesis in a Japanese familyTadashi Tatematsu, Masashi Kimura, Mitsuko Nakashima, et al.
Human Genome Variation|April 16, 2016
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndromeEri Imagawa, Ryoko Fukai, Mahdiyeh Behnam, et al.
Seizure|January 27, 2019
Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)Shinsaku Yoshitomi, Yukitoshi Takahashi, Katsumi Imai, et al.
Epilepsy & Behavior Reports|January 25, 2021
Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature reviewAtsuko Arisaka, Mitsuko Nakashima, Satoko Kumada, et al.
Pageof 21