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Brain & Development
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December 24, 2017
Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2
Mieko Yoshioka, Naoya Morisada, Daisaku Toyoshima, et al.
Nature Communications
|
May 11, 2011
Chemical treatment enhances skipping of a mutated exon in the dystrophin gene
Atsushi Nishida, Naoyuki Kataoka, Yasuhiro Takeshima, et al.
International Journal of Neonatal Screening
|
November 29, 2021
DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in <i>G6PC</i> by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Curve Analysis
Emma Tabe Eko Niba, Yogik Onky Silvana Wijaya, Hiroyuki Awano, et al.
The Kobe Journal of Medical Sciences
|
March 21, 2015
Phosphorothioate modification of chimeric 2´-O-methyl RNA/ethylene-bridged nucleic acid oligonucleotides increases dystrophin exon 45 skipping capability and reduces cytotoxicity
Rusdy Ghazali Malueka, Ery Kus Dwianingsih, Mariko Yagi, et al.
Cerebrovascular Diseases (Basel, Switzerland)
|
February 15, 2013
Early inhibition of natriuresis suppresses symptomatic cerebral vasospasm in patients with aneurysmal subarachnoid hemorrhage
Ichiro Nakagawa, Yasuo Hironaka, Fumihiko Nishimura, et al.
Translational Stroke Research
|
May 7, 2021
Hypocapnia Induced by Hyperventilation with Indocyanine Green Kinetics Detects the Effect of Staged Carotid Angioplasty to Avoid Hyperperfusion in Patients with Impaired Cerebral Hemodynamic Reserve
Ichiro Nakagawa, HunSoo Park, Masashi Kotsugi, et al.
Genes
|
October 26, 2024
Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients
Hisahide Nishio, Emma Tabe Eko Niba, Toshio Saito, et al.
BMC Genetics
|
April 3, 2012
Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers
Rusdy Ghazali Malueka, Yutaka Takaoka, Mariko Yagi, et al.
Genes
|
April 23, 2022
High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed <i>SMN2</i> Splicing in Patient Fibroblasts
Yogik Onky Silvana Wijaya, Emma Tabe Eko Niba, Hisahide Nishio, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
August 24, 2020
Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients
Tomoko Lee, Katsuhiko Yoshii, Satoru Yoshida, et al.
Page
of 32
Search research articles
Search
Showing results (161-170 of 317) with videos related to
Sort By:
Page
of 32
Brain & Development
|
December 24, 2017
Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2
Mieko Yoshioka, Naoya Morisada, Daisaku Toyoshima, et al.
Nature Communications
|
May 11, 2011
Chemical treatment enhances skipping of a mutated exon in the dystrophin gene
Atsushi Nishida, Naoyuki Kataoka, Yasuhiro Takeshima, et al.
International Journal of Neonatal Screening
|
November 29, 2021
DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in <i>G6PC</i> by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Curve Analysis
Emma Tabe Eko Niba, Yogik Onky Silvana Wijaya, Hiroyuki Awano, et al.
The Kobe Journal of Medical Sciences
|
March 21, 2015
Phosphorothioate modification of chimeric 2´-O-methyl RNA/ethylene-bridged nucleic acid oligonucleotides increases dystrophin exon 45 skipping capability and reduces cytotoxicity
Rusdy Ghazali Malueka, Ery Kus Dwianingsih, Mariko Yagi, et al.
Cerebrovascular Diseases (Basel, Switzerland)
|
February 15, 2013
Early inhibition of natriuresis suppresses symptomatic cerebral vasospasm in patients with aneurysmal subarachnoid hemorrhage
Ichiro Nakagawa, Yasuo Hironaka, Fumihiko Nishimura, et al.
Translational Stroke Research
|
May 7, 2021
Hypocapnia Induced by Hyperventilation with Indocyanine Green Kinetics Detects the Effect of Staged Carotid Angioplasty to Avoid Hyperperfusion in Patients with Impaired Cerebral Hemodynamic Reserve
Ichiro Nakagawa, HunSoo Park, Masashi Kotsugi, et al.
Genes
|
October 26, 2024
Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients
Hisahide Nishio, Emma Tabe Eko Niba, Toshio Saito, et al.
BMC Genetics
|
April 3, 2012
Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers
Rusdy Ghazali Malueka, Yutaka Takaoka, Mariko Yagi, et al.
Genes
|
April 23, 2022
High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed <i>SMN2</i> Splicing in Patient Fibroblasts
Yogik Onky Silvana Wijaya, Emma Tabe Eko Niba, Hisahide Nishio, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
August 24, 2020
Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients
Tomoko Lee, Katsuhiko Yoshii, Satoru Yoshida, et al.
Page
of 32