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Brain & Development|March 28, 2018
Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Mawaddah Ar Rochmah, et al.Journal of Neuromuscular Diseases|January 7, 2026
Characteristics of early-onset, rapidly progressive scoliosis in spinal muscular atrophy type I treated with disease-modifying therapy -a multicenter retrospective study conducted in JapanTomokazu Kimizu, Reiko Arakawa, Mikiko Hasegawa, et al.The Kobe Journal of Medical Sciences|February 14, 2018
Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular AtrophyMawaddah Ar Rochmah, Ai Shima, Nur Imma Fatimah Harahap, et al.The Kobe Journal of Medical Sciences|January 21, 2020
Spinal Muscular Atrophy: Advanced Version of Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 DeletionEmma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, et al.The Kobe Journal of Medical Sciences|January 21, 2020
Spinal Muscular Atrophy: New Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 DeletionEmma Tabe Eko Niba, Mawaddah Ar Rochmah, Nur Imma Fatimah Harahap, et al.Annals of Human Genetics|July 25, 2013
Spinal muscular atrophy: from gene discovery to clinical trialsDian K Nurputra, Poh San Lai, Nur Imma F Harahap, et al.Brain & Development|May 20, 2017
Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNAMawaddah Ar Rochmah, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, et al.Genetic Testing and Molecular Biomarkers|April 20, 2021
Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak AnalysisYogik Onky Silvana Wijaya, Hisahide Nishio, Emma Tabe Eko Niba, et al.The Kobe Journal of Medical Sciences|August 21, 2020
Phosphoethanolamine Elevation in Plasma of Spinal Muscular Atrophy Type 1 PatientsMawaddah Ar Rochmah, Yogik Onky Silvana Wijaya, Nur Imma Fatimah Harahap, et al.Pediatric Neurology|June 9, 2016
Telomeric Region of the Spinal Muscular Atrophy Locus Is Susceptible to Structural VariationsYoriko Noguchi, Akira Onishi, Yuji Nakamachi, et al.Pageof 10