Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Richard Hideki Kaszynski"'
Autor:
Indra Sari Kusuma Harahap, Huyen Thi Van Pham, Noriyuki Nishimura, Richard Hideki Kaszynski, Naoki Yokoyama, Myeong Jin Lee, Tomoto Yamamoto, Hisahide Nishio, Ichiro Morioka, Satoru Morikawa, Yasuhiro Ueno, Dian Kesuma Pramudya, Masafumi Matsuo, Tri Budi Hartomo
Publikováno v:
Genetic Testing and Molecular Biomarkers. 15:677-684
Spinal muscular atrophy (SMA) is a well-defined autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron 1 (SMN1) gene. The most frequently observed mutation is a deletion of exon 7, which has been documented in95%
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3338c0db93448bf36889d7f6f9f4e82b
https://doi.org/10.1089/gtmb.2010.0237
https://doi.org/10.1089/gtmb.2010.0237
Autor:
Shin Nishiumi, Richard Hideki Kaszynski, Takeshi Azuma, Masaru Yoshida, Yasuhiro Ueno, Migiwa Asano, Takeshi Kondo, Motonori Takahashi
Publikováno v:
Analytical and bioanalytical chemistry. 408(12)
While the molecular mechanisms underlying postmortem change have been exhaustively investigated, the establishment of an objective and reliable means for estimating postmortem interval (PMI) remains an elusive feat. In the present study, we exploit l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4484b6bdcb6ffa5e291181c8b5373905
https://pubmed.ncbi.nlm.nih.gov/26931122
https://pubmed.ncbi.nlm.nih.gov/26931122
Autor:
Indra Sari Kusuma Harahap, Imam Rusdi, Nur Imma Fatimah Harahap, Huyen Thi Van Pham, Tri Budi Hartomo, Dian Kesumapramudya Nurputra, Satoru Morikawa, Hisahide Nishio, Noriyuki Nishimura, Retno Widiastuti, Richard Hideki Kaszynski, Tomoto Yamamoto
Publikováno v:
Genetic testing and molecular biomarkers. 16(2)
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder. It is caused by mutations in the SMN1, and its clinical severity is modified by copy number variations of the SMN2. According to previous studies, deletion of SMN1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee2a76bc8c7c9f17c163d3ea96df7376
https://pubmed.ncbi.nlm.nih.gov/21942573
https://pubmed.ncbi.nlm.nih.gov/21942573