Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines ISK Harahap, T Saito, LP San, N Sasaki, DKP Nurputra, S Yusoff, ... Brain and Development 34 (3), 213-222, 2012 | 44 | 2012 |
Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients ES Herini, ISK Harahap, S Yusoff, S Morikawa, SY Patria, N Nishimura, ... Epilepsy research 90 (1-2), 132-139, 2010 | 37 | 2010 |
A polymorphic mutation, c.-3279T> G, in the UGT1A1 promoter is a risk factor for neonatal jaundice in the Malay population S Yusoff, A Takeuchi, C Ashi, M Tsukada, NH Ma'Amor, BA Zilfalil, ... Pediatric research 67 (4), 401-406, 2010 | 36 | 2010 |
Spinal muscular atrophy patient detection and carrier screening using dried blood spots on filter paper NIF Harahap, ISK Harahap, RH Kaszynski, DKP Nurputra, TB Hartomo, ... Genetic testing and molecular biomarkers 16 (2), 123-129, 2012 | 20 | 2012 |
Attention Deficit/Hyperactivity Disorder (ADHD): age related change of completion time and error rates of Stroop test C Thursina, MA Rochmah, DK Nurputra, ISK Harahap, NIF Harahap, ... Kobe J Med Sci 61 (1), E19-26, 2015 | 14 | 2015 |
Hubungan timbal dan krom pada pemakaian pewarna batik dengan kadar hemoglobin dan packed cell volume pada pengrajin batik di Kecamatan Lendah Kulon Progo P Hastuti, DS Rubi, S Sutarni, IK Harahap, K Dananjoyo, IBGSP Pidada, ... Journal of Community Empowerment for Health 1 (1), 28-35, 2018 | 13 | 2018 |
Diagnosis of spinal muscular atrophy via high-resolution melting analysis symmetric polymerase chain reaction without probe: a screening evaluation for SMN1 deletions and … S Morikawa, ISK Harahap, RH Kaszynski, T Yamamoto, DK Pramudya, ... Genetic testing and molecular biomarkers 15 (10), 677-684, 2011 | 11 | 2011 |
A homozygous mutation in UGT1A1 exon 5 may be responsible for persistent hyperbilirubinemia in a Japanese girl with Gilbert's syndrome T Nakagawa, T Mure, S Yusoff, E Ono, IS Kusuma Harahap, S Morikawa, ... Kobe J Med Sci 57 (1), e26-e31, 2011 | 11 | 2011 |
Paramyotonia congenita: From clinical diagnosis to in silico protein modeling analysis DK Nurputra, T Nakagawa, Y Takeshima, ISK Harahap, S Morikawa, ... Pediatrics International 54 (5), 602-612, 2012 | 10 | 2012 |
Herbal medicine containing licorice may be contraindicated for a patient with an HSD11B2 mutation ISK Harahap, N Sasaki, S Yusoff, MJ Lee, S Morikawa, N Nishimura, ... Evidence-Based Complementary and Alternative Medicine 2011, 2011 | 10 | 2011 |
Genetic disorders associated with neonatal jaundice I Morioka, S Morikawa, S Yusoff, ISK Harahap, N Nishimura, N Yokoyama, ... Eastern Journal of Medicine 15 (4), 155, 2010 | 10 | 2010 |
Novel mutations in 21 patients with tuberous sclerosis complex and variation of tandem splice-acceptor sites in TSC1 exon 14 TH Sasongko, M Wataya-Kaneda, K Koterazawa, YS Gunadi, IS Harahap, ... Kobe J Med Sci 54 (1), E73-81, 2008 | 10 | 2008 |
A Study of valproic acid for patients with spinal muscular atrophy T Saito, DK Nurputra, NIF Harahap, ISK Harahap, H Yamamoto, ... Neurology and Clinical Neuroscience 3 (2), 49-57, 2015 | 9 | 2015 |
Acetaminophen administration in a patient with Gilbert's syndrome T Nakagawa, T Mure, S Yusoff, E Ono, ISK Harahap, S Morikawa, ... Pediatrics International 54 (6), 934-936, 2012 | 7 | 2012 |
Neurological findings in patients with COVID-19: a systematic review MA Rochmah, S Satiti, I Setyopranoto, ISK Harahap, DP Sejahtera, ... Journal of the Medical Sciences (Berkala Ilmu Kedokteran) 52 (3), 2020 | 4 | 2020 |
Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series CTS Setyaningrum, ISK Harahap, DK Nurputra, M Ar Rochmah, ... Journal of Medical Case Reports 16 (1), 435, 2022 | 3 | 2022 |
Determining the association between polymorphisms of the DAT1 and DRD4 genes with attention deficit hyperactivity disorder in children from Java Island C Thursina, DK Nurputra, ISK Harahap, NIF Harahap, N Sa’adah, ... Neurology International 12 (1), 8292, 2020 | 3 | 2020 |
Sodium channels of SCNIA gene mutations in generalized epilepsy with febrile seizure plus (GEFS+) spectrum related to autism E Herini, Y Patria, G Gunadi, S Yusoff, ISAK Harahap, S Sunartini, ... Paediatrica Indonesiana 50 (3), 125-32, 2010 | 2 | 2010 |
Herbal Medicine Containing Licorice May Be Contraindicated for a Patient With an HSD11B2 Mutation ISK Harahap, N Sasaki, S Yusoff, MJ Lee, S Morikawa, N Nishimura, ... Evidence Based Complementary and AlternativeMedicine 2011, 21, 2009 | 2 | 2009 |
Managing pregnancy in a spinal muscular atrophy type III patient in Indonesia: a case report CTS Setyaningrum, ISK Harahap, DK Nurputra, IT Rachman, ... Journal of Medical Case Reports 16 (1), 14, 2022 | 1 | 2022 |