Ar Rochmah M - Search Results

1

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. Among authors: ar rochmah m. 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.

2

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. Among authors: ar rochmah m. Kobe J Med Sci. 2015 Jan 19;60(4):E78-85. Kobe J Med Sci. 2015. PMID: 25791416 Free article.

3

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. Among authors: ar rochmah m. 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

4

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. Among authors: ar rochmah m. Kobe J Med Sci. 2015 Apr 7;61(1):E19-26. Kobe J Med Sci. 2015. PMID: 25868610 Free article.

5

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

Takarada T, Ar Rochmah M, Harahap NIF, Shinohara M, Saito T, Saito K, Lai PS, Bouike Y, Takeshima Y, Awano H, Morioka I, Iijima K, Nishio H, Takeuchi A. Takarada T, et al. Among authors: ar rochmah m. Brain Dev. 2017 Aug;39(7):606-612. doi: 10.1016/j.braindev.2017.03.002. Epub 2017 Mar 31. Brain Dev. 2017. PMID: 28366534

6

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

Ar Rochmah M, Harahap NIF, Niba ETE, Nakanishi K, Awano H, Morioka I, Iijima K, Saito T, Saito K, Lai PS, Takeshima Y, Takeuchi A, Bouike Y, Okamoto M, Nishio H, Shinohara M. Ar Rochmah M, et al. Brain Dev. 2017 Oct;39(9):774-782. doi: 10.1016/j.braindev.2017.04.015. Epub 2017 May 15. Brain Dev. 2017. PMID: 28522225

7

Spinal muscular atrophy carriers with two SMN1 copies.

Ar Rochmah M, Awano H, Awaya T, Harahap NIF, Morisada N, Bouike Y, Saito T, Kubo Y, Saito K, Lai PS, Morioka I, Iijima K, Nishio H, Shinohara M. Ar Rochmah M, et al. Brain Dev. 2017 Nov;39(10):851-860. doi: 10.1016/j.braindev.2017.06.002. Epub 2017 Jul 1. Brain Dev. 2017. PMID: 28676237

8

Salbutamol inhibits ubiquitin-mediated survival motor neuron protein degradation in spinal muscular atrophy cells.

Harahap NIF, Nurputra DK, Ar Rochmah M, Shima A, Morisada N, Takarada T, Takeuchi A, Tohyama Y, Yanagisawa S, Nishio H. Harahap NIF, et al. Among authors: ar rochmah m. Biochem Biophys Rep. 2015 Oct 28;4:351-356. doi: 10.1016/j.bbrep.2015.10.012. eCollection 2015 Dec. Biochem Biophys Rep. 2015. PMID: 29124224 Free PMC article.

9

New, Improved Version of the mCOP-PCR Screening System for Detection of Spinal Muscular Atrophy Gene (SMN1) Deletion.

Shinohara M, Ar Rochmah M, Nakanishi K, Harahap NIF, Niba ETE, Saito T, Saito K, Takeuchi A, Bouike Y, Nishio H. Shinohara M, et al. Among authors: ar rochmah m. Kobe J Med Sci. 2017 Sep 7;63(2):E37-E40. Kobe J Med Sci. 2017. PMID: 29434172 Free PMC article.

10

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. Kobe J Med Sci. 2017 Oct 16;63(2):E41-E44. Kobe J Med Sci. 2017. PMID: 29434173 Free PMC article.

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