Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Yoshihiro Bouike"'
Autor:
Yogik Onky Silvana Wijaya, Jamiyan Purevsuren, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Yoshihiro Bouike, Dian Kesumapramudya Nurputra, Mawaddah Ar Rochmah, Cempaka Thursina, Sunartini Hapsara, Seiji Yamaguchi, Hisahide Nishio, Masakazu Shinohara
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 2, p 43 (2020)
Spinal muscular atrophy (SMA) is a common neuromuscular disease with autosomal recessive inheritance. The disease gene, SMN1, is homozygously deleted in 95% of SMA patients. Although SMA has been an incurable disease, treatment in infancy with newly
Externí odkaz:
https://doaj.org/article/6dbedc95446f47668cbe657116ccec8c
Autor:
Yoriko Noguchi, Ryosuke Bo, Hisahide Nishio, Hisayuki Matsumoto, Keiji Matsui, Yoshihiko Yano, Masami Sugawara, Go Ueda, Yogik Onky Silvana Wijaya, Emma Tabe Eko Niba, Masakazu Shinohara, Yoshihiro Bouike, Atsuko Takeuchi, Kentaro Okamoto, Toshio Saito, Hideki Shimomura, Tomoko Lee, Yasuhiro Takeshima, Kazumoto Iijima, Kandai Nozu, Hiroyuki Awano
Publikováno v:
Genes. 14:759
The authors wish to make the following correction to this paper [...]
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c2af0aee27d391d1a05faab41f33991
https://doi.org/10.3390/genes14030759
https://doi.org/10.3390/genes14030759
Autor:
Eri Masui, Shinya Ohata, Takeshi Sugimoto, Takako Tomita, Hideaki Goto, Yoshihiro Bouike, Hiromi Hashimoto
Publikováno v:
The American Journal of Case Reports
Patient: Female, 82-year-old Final Diagnosis: Paroxysmal cold hemoglobinuria Symptoms: Anemia Medication:— Clinical Procedure: — Specialty: Hematology Objective: Challenging differential diagnosis Background: Paroxysmal cold hemoglobinuria (PCH)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab7a182c17b6a688d4cbdb228206b37d
https://doi.org/10.12659/ajcr.933102
https://doi.org/10.12659/ajcr.933102
Autor:
Yasukazu Doi, Chiaki Watanabe, Yoshihiro Bouike, Hisayo Takano, Junko Michino, Yukio Kajita, Yoshiko Takasugi, Masayoshi Minegishi, Asashi Tanaka, Tadasu Tobita
Publikováno v:
Japanese Journal of Transfusion and Cell Therapy. 65:628-633
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d36780e0a48b8f0ffb0155a712d0c9ae
https://doi.org/10.3925/jjtc.65.628
https://doi.org/10.3925/jjtc.65.628
Autor:
Dian Kesumapramudya Nurputra, Seiji Yamaguchi, Nur Imma Fatimah Harahap, Mawaddah Ar Rochmah, Hisahide Nishio, Masako Kato, Chisato Tode, Masakazu Shinohara, Yoshihiro Bouike, Yogik Onky Silvana Wijaya, Kentaro Okamoto, Toshio Saito, Tomoyoshi Shiroshita, Emma Tabe Eko Niba, Atsuko Takeuchi, Poh San Lai
Publikováno v:
Genetic testing and molecular biomarkers. 25(4)
Background and Aim: Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive inheritance caused by homozygous SMN1 deletions. Although SMA has been considered as incurable, newly developed drugs improve life prognoses an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60976413d53ad1a34dc80cfb30a68a77
https://pubmed.ncbi.nlm.nih.gov/33877896
https://pubmed.ncbi.nlm.nih.gov/33877896
Autor:
Emma Tabe Eko Niba, Jamiyan Purevsuren, Cempaka Thursina, Hisahide Nishio, Nur Imma Fatimah Harahap, Sunartini Hapsara, Yoshihiro Bouike, Yogik Onky Silvana Wijaya, Masakazu Shinohara, Mawaddah Ar Rochmah, Seiji Yamaguchi, Dian Kesumapramudya Nurputra
Publikováno v:
International Journal of Neonatal Screening
Volume 6
Issue 2
International Journal of Neonatal Screening, Vol 6, Iss 43, p 43 (2020)
Volume 6
Issue 2
International Journal of Neonatal Screening, Vol 6, Iss 43, p 43 (2020)
Spinal muscular atrophy (SMA) is a common neuromuscular disease with autosomal recessive inheritance. The disease gene, SMN1, is homozygously deleted in 95% of SMA patients. Although SMA has been an incurable disease, treatment in infancy with newly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d0ebc3ac22b4ae6c79b32931e9bcdc2
Autor:
Atsuko, Takeuchi, Chisato, Tode, Masayoshi, Nishino, Yogik Onky Silvana, Wijaya, Emma Tabe Eko, Niba, Hiroyuki, Awano, Yasuhiro, Takeshima, Toshio, Saito, Kayoko, Saito, Poh San, Lai, Yoshihiro, Bouike, Hisahide, Nishio, Masakazu, Shinohara
Publikováno v:
The Kobe journal of medical sciences. 65(3)
BACKGROUND: Polymerase chain reaction (PCR) analysis using DNA from dried blood spot (DBS) samples on filter paper is a critical technique for spinal muscular atrophy (SMA) newborn screening. However, DNA extraction from DBS is time-consuming, and el
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7bb2761c858645626968ddd444614a85
https://pubmed.ncbi.nlm.nih.gov/32029694
https://pubmed.ncbi.nlm.nih.gov/32029694
Autor:
Yogik Onky Silvana, Wijaya, Emma Tabe Eko, Niba, Mawaddah Ar, Rochmah, Nur Imma Fatimah, Harahap, Hiroyuki, Awano, Yasuhiro, Takeshima, Toshio, Saito, Kayoko, Saito, Atsuko, Takeuchi, Poh San, Lai, Yoshihiro, Bouike, Hisahide, Nishio, Masakazu, Shinohara
Publikováno v:
The Kobe journal of medical sciences. 65(2)
BACKGROUND: Spinal Muscular Atrophy (SMA) is a common autosomal recessive disorder caused by SMN1 gene deletion. SMA has been considered an incurable disease. However, a newly-developed antisense oligonucleotide drug, nusinersen, brings about a good
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::afa77f232f1bc4cc3db27b6be2242d0f
https://pubmed.ncbi.nlm.nih.gov/31956257
https://pubmed.ncbi.nlm.nih.gov/31956257
Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion
Autor:
Emma Tabe Eko, Niba, Mawaddah Ar, Rochmah, Nur Imma Fatimah, Harahap, Hiroyuki, Awano, Ichiro, Morioka, Kazumoto, Iijima, Yasuhiro, Takeshima, Toshio, Saito, Kayoko, Saito, Atsuko, Takeuchi, Poh San, Lai, Yoshihiro, Bouike, Masafumi, Matsuo, Hisahide, Nishio, Masakazu, Shinohara
Publikováno v:
The Kobe journal of medical sciences. 65(2)
BACKGROUND: Spinal Muscular Atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration or loss of lower motor neurons. More than 95% of SMA patients show homozygous deletion for the survival motor neuron 1 (SMN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f0c595834904ebeaf013f0a45ad1490b
https://pubmed.ncbi.nlm.nih.gov/31956255
https://pubmed.ncbi.nlm.nih.gov/31956255
Autor:
Emma Tabe Eko, Niba, Mawaddah Ar, Rochmah, Nur Imma Fatimah, Harahap, Hiroyuki, Awano, Ichiro, Morioka, Kazumoto, Iijima, Yasuhiro, Takeshima, Toshio, Saito, Kayoko, Saito, Atsuko, Takeuchi, Poh San, Lai, Yoshihiro, Bouike, Masafumi, Matsuo, Hisahide, Nishio, Masakazu, Shinohara
Publikováno v:
The Kobe journal of medical sciences. 65(2)
BACKGROUND: Spinal Muscular Atrophy (SMA) is a common autosomal recessive neuromuscular disease characterized by defects of lower motor neurons. More than 95% of SMA patients show homozygous deletion for the survival motor neuron 1 (SMN1) gene. For t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a21b1f9c03be2e2f043b002c39254aa7
https://pubmed.ncbi.nlm.nih.gov/31956256
https://pubmed.ncbi.nlm.nih.gov/31956256