Harahap NIF - Search Results

1

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

Ar Rochmah M, Shima A, Harahap NIF, Niba ETE, Morisada N, Yanagisawa S, Saito T, Kaneko K, Saito K, Morioka I, Iijima K, Lai PS, Bouike Y, Nishio H, Shinohara M. Ar Rochmah M, et al. Among authors: harahap nif. Kobe J Med Sci. 2017 Oct 16;63(2):E41-E44. Kobe J Med Sci. 2017. PMID: 29434173 Free PMC article.

2

Spinal muscular atrophy patient detection and carrier screening using dried blood spots on filter paper.

Harahap NI, Harahap IS, Kaszynski RH, Nurputra DK, Hartomo TB, Pham HT, Yamamoto T, Morikawa S, Nishimura N, Rusdi I, Widiastuti R, Nishio H. Harahap NI, et al. Genet Test Mol Biomarkers. 2012 Feb;16(2):123-9. doi: 10.1089/gtmb.2011.0109. Epub 2011 Sep 23. Genet Test Mol Biomarkers. 2012. PMID: 21942573

3

Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.

Yamamoto T, Sato H, Lai PS, Nurputra DK, Harahap NI, Morikawa S, Nishimura N, Kurashige T, Ohshita T, Nakajima H, Yamada H, Nishida Y, Toda S, Takanashi J, Takeuchi A, Tohyama Y, Kubo Y, Saito K, Takeshima Y, Matsuo M, Nishio H. Yamamoto T, et al. Brain Dev. 2014 Nov;36(10):914-20. doi: 10.1016/j.braindev.2013.11.009. Epub 2013 Dec 17. Brain Dev. 2014. PMID: 24359787

4

Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMA.

Harahap NI, Takeuchi A, Yusoff S, Tominaga K, Okinaga T, Kitai Y, Takarada T, Kubo Y, Saito K, Sa'adah N, Nurputra DK, Nishimura N, Saito T, Nishio H. Harahap NI, et al. Brain Dev. 2015 Aug;37(7):669-76. doi: 10.1016/j.braindev.2014.10.006. Epub 2014 Oct 31. Brain Dev. 2015. PMID: 25459970

5

SMA screening system using dried blood spots on filter paper: application of COP-PCR to the SMN1 deletion test.

Kato N, Sa'Adah N, Ar Rochmah M, Harahap NI, Nurputra DK, Sato H, Sadewa AH, Astuti I, Haryana SM, Saito T, Saito K, Nishimura N, Nishio H, Takeuchi A. Kato N, et al. Kobe J Med Sci. 2015 Jan 19;60(4):E78-85. Kobe J Med Sci. 2015. PMID: 25791416 Free article.

6

Two Japanese Patients With SMA Type 1 Suggest that Axonal-SMN May Not Modify the Disease Severity.

Yamada H, Nishida Y, Maihara T, Sa'adah N, Harahap NI, Nurputra DK, Ar Rochmah M, Nishimura N, Saito T, Kubo Y, Saito K, Nishio H. Yamada H, et al. Pediatr Neurol. 2015 Jun;52(6):638-41. doi: 10.1016/j.pediatrneurol.2015.02.023. Epub 2015 Feb 28. Pediatr Neurol. 2015. PMID: 25838041

7

Attention Deficit/Hyperactivity Disorder (ADHD): age related change of completion time and error rates of Stroop test.

Thursina C, Ar Rochmah M, Nurputra DK, Harahap IS, Harahap NI, Sa'Adah N, Wibowo S, Sutarni S, Sadewa AH, Nishimura N, Mandai T, Iijima K, Nishio H, Kitayama S. Thursina C, et al. Kobe J Med Sci. 2015 Apr 7;61(1):E19-26. Kobe J Med Sci. 2015. PMID: 25868610 Free article.

8

A Rapid, Accurate and Simple Screening Method for Spinal Muscular Atrophy: High-Resolution Melting Analysis Using Dried Blood Spots on Filter Paper.

Sa'adah N, Harahap NI, Nurputra DK, Rochmah MA, Morikawa S, Nishimura N, Sadewa AH, Astuti I, Haryana SM, Saito T, Saito K, Nishio H. Sa'adah N, et al. Clin Lab. 2015;61(5-6):575-80. doi: 10.7754/clin.lab.2014.141008. Clin Lab. 2015. PMID: 26118191 Clinical Trial.

9

Telomeric Region of the Spinal Muscular Atrophy Locus Is Susceptible to Structural Variations.

Noguchi Y, Onishi A, Nakamachi Y, Hayashi N, Harahap NI, Rochmah MA, Shima A, Yanagisawa S, Morisada N, Nakagawa T, Iijima K, Kasagi S, Saegusa J, Kawano S, Shinohara M, Tairaku S, Saito T, Kubo Y, Saito K, Nishio H. Noguchi Y, et al. Pediatr Neurol. 2016 May;58:83-9. doi: 10.1016/j.pediatrneurol.2016.01.019. Epub 2016 Jan 30. Pediatr Neurol. 2016. PMID: 27268759

10

Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2.

Yoshimoto S, Harahap NI, Hamamura Y, Ar Rochmah M, Shima A, Morisada N, Shinohara M, Saito T, Saito K, Lai PS, Matsuo M, Awano H, Morioka I, Iijima K, Nishio H. Yoshimoto S, et al. Hum Genome Var. 2016 Dec 1;3:16040. doi: 10.1038/hgv.2016.40. eCollection 2016. Hum Genome Var. 2016. PMID: 27917293 Free PMC article.

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