Nur Imma Fatimah Harahap
Universitas Gadjah Mada(ID)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, RNA modifications and cancer, RNA Research and Splicing, Congenital Anomalies and Fetal Surgery, Muscle Physiology and Disorders
Most-Cited Works
- → Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials(2013)97 cited
- → Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients(2013)51 cited
- → Spinal muscular atrophy carriers with two SMN1 copies(2017)23 cited
- → Molecular epidemiology of SARS-CoV-2 isolated from COVID-19 family clusters(2021)22 cited
- → Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA(2017)21 cited
- → Spinal Muscular Atrophy Patient Detection and Carrier Screening Using Dried Blood Spots on Filter Paper(2011)17 cited
- → SMA screening system using dried blood spots on filter paper: application of COP-PCR to the SMN1 deletion test.(2015)17 cited
- → Salbutamol inhibits ubiquitin-mediated survival motor neuron protein degradation in spinal muscular atrophy cells(2015)16 cited
- → Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular Atrophy.(2017)15 cited
- → SMA mutations in SMN Tudor and C-terminal domains destabilize the protein(2017)14 cited