Yoshihiro Bouike

Spinal muscular atrophy carriers with two SMN1 copies

Mawaddah Ar Rochmah, Hiroyuki Awano, Tomonari Awaya et al. · Brain and Development · 2017 · 23 citations

Medicine, Genetics, Molecular Genetics +8

Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA

Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba et al. · Brain and Development · 2017 · 21 citations

Life Sciences, Genetics, Molecular Genetics +15

PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan

Yoriko Noguchi, Ryosuke Bo, Hisahide Nishio et al. · Genes · 2022 · 21 citations · Full text

Medicine, Genetics, Pediatrics +17

Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular Atrophy.

Mawaddah Ar Rochmah, Ai Shima, Nur Imma Fatimah Harahap et al. · PubMed · 2017 · 15 citations · Full text

Medicine, Genetics, Neurology +15

SMA mutations in SMN Tudor and C-terminal domains destabilize the protein

Toru Takarada, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap et al. · Brain and Development · 2017 · 14 citations

Life Sciences, Genetics, Molecular Biology +5