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Select item 107245191.

Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study

Faisal Ibrahim, Dinesh Velayutham, Mohamed Alsharshani, Usama AlAlami, Manar AlDewik, Tala Abuarja, Hilal Al Rifai, Nader I. Al‐Dewik

Mol Genet Genomic Med. 2023 Dec; 11(12): e2184. Published online 2023 Nov 15. doi: 10.1002/mgg3.2184

PMCID:: PMC10724519

Abstract Article PDF–870K

Select item 107126532.

Sequential treatment with nusinersen, Zolgensma^® and risdiplam in a paediatric patient with spinal muscular atrophytype 1: a case report

Ilaria Bitetti, Maria Rosaria Manna, Roberto Stella, Antonio Varone

Acta Myol. 2023; 42(2-3): 82–85. Published online 2023 Sep 30. doi: 10.36185/2532-1900-356

PMCID:: PMC10712653

Abstract Article PDF–152K

Select item 104186353.

Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment

Hisahide Nishio, Emma Tabe Eko Niba, Toshio Saito, Kentaro Okamoto, Yasuhiro Takeshima, Hiroyuki Awano

Int J Mol Sci. 2023 Aug; 24(15): 11939. Published online 2023 Jul 26. doi: 10.3390/ijms241511939

PMCID:: PMC10418635

Abstract Article PDF–3.5M

Select item 99579854.

A comprehensive overview of SMN and NAIP copy numbers in Iranian SMA patients

Shahram Savad, Mahmoud Reza Ashrafi, Niusha Samadaian, Morteza Heidari, Mohammad-Hossein Modarressi, Gholamreza Zamani, Saloomeh Amidi, Sarang Younesi, Mohammad Mahdi Taheri Amin, Pourandokht Saadati, Alireza Ronagh, Hossein Shojaaldini Ardakani, Solat Eslami, Soudeh Ghafouri-Fard

Sci Rep. 2023; 13: 3202. Published online 2023 Feb 24. doi: 10.1038/s41598-023-30449-7

PMCID:: PMC9957985

Abstract Article PDF–1.0M

Select item 92437845.

Amifampridine safety and efficacy in spinal muscular atrophy ambulatory patients: a randomized, placebo-controlled, crossover phase 2 trial

Silvia Bonanno, Riccardo Giossi, Riccardo Zanin, Valentina Porcelli, Claudio Iannacone, Giovanni Baranello, Gary Ingenito, Stanley Iyadurai, Zorica Stevic, Stojan Peric, Lorenzo Maggi

J Neurol. 2022; 269(11): 5858–5867. Published online 2022 Jun 28. doi: 10.1007/s00415-022-11231-7

PMCID:: PMC9243784

Abstract Article PDF–605K

Select item 90009386.

The clinical utility of a risk‐modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity

Gardenier Ware, Cecelia Miller, Dan Jones, Matthew Avenarius

Mol Genet Genomic Med. 2022 Apr; 10(4): e1897. Published online 2022 Mar 15. doi: 10.1002/mgg3.1897

PMCID:: PMC9000938

Abstract Article PDF–579K

Select item 88724197.

Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy

Emma Tabe Eko Niba, Hisahide Nishio, Yogik Onky Silvana Wijaya, Mawaddah Ar Rochmah, Toru Takarada, Atsuko Takeuchi, Tomokazu Kimizu, Kentaro Okamoto, Toshio Saito, Hiroyuki Awano, Yasuhiro Takeshima, Masakazu Shinohara

Genes (Basel) 2022 Feb; 13(2): 205. Published online 2022 Jan 24. doi: 10.3390/genes13020205

PMCID:: PMC8872419

Abstract Article PDF–3.2M

Select item 85183808.

Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy

Elizabeth A. Kichula, Crystal M. Proud, Michelle A. Farrar, Jennifer M. Kwon, Kayoko Saito, Isabelle Desguerre, Hugh J. McMillan

Muscle Nerve. 2021 Oct; 64(4): 413–427. Published online 2021 Jul 20. doi: 10.1002/mus.27363

PMCID:: PMC8518380

Abstract Article PDF–4.0M

Select item 77834299.

25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy

Francesco Danilo Tiziano, Eduardo F. Tizzano

Acta Myol. 2020 Dec; 39(4): 336–344. Published online 2020 Dec 1. doi: 10.36185/2532-1900-037

PMCID:: PMC7783429

Abstract Article PDF–279K

Select item 710540710.

Nusinersen as a Therapeutic Agent for Spinal Muscular Atrophy

Qing Li

Yonsei Med J. 2020 Apr 1; 61(4): 273–283. Published online 2020 Mar 25. doi: 10.3349/ymj.2020.61.4.273

PMCID:: PMC7105407

Abstract Article PDF–544K

Select item 705469311.

Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population

Jong Eun Park, Sun Ae Yun, Eun Youn Roh, Jong Hyun Yoon, Sue Shin, Chang-Seok Ki

Ann Lab Med. 2020 Jul; 40(4): 326–330. Published online 2020 Feb 17. doi: 10.3343/alm.2020.40.4.326

PMCID:: PMC7054693

Abstract Article PDF–199K

Select item 704297012.

Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation

Antonis Ververis, Rana Dajani, Pantelitsa Koutsou, Ahmad Aloqaily, Carol Nelson-Williams, Erin Loring, Ala Arafat, Ammar Fayez Mubaidin, Khalid Horany, Mai B Bader, Yaqoub Al-Baho, Bushra Ali, Abdurrahman Muhtaseb, Tyrone DeSpenza Jr, Abdelkarim A Al-Qudah, Lefkos T Middleton, Eleni Zamba-Papanicolaou, Richard Lifton, Kyproula Christodoulou

J Med Genet. 2020 Mar; 57(3): 178–186. Published online 2019 Sep 11. doi: 10.1136/jmedgenet-2019-106108

PMCID:: PMC7042970

Abstract Article PDF–1.0M

Select item 702936513.

Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort

Cynthia C. Jones, Suzanne F. Cook, Jill Jarecki, Lisa Belter, Sandra P. Reyna, John Staropoli, Wildon Farwell, Kenneth Hobby

J Neuromuscul Dis. 2020; 7(1): 33–40. Prepublished online 2019 Nov 5. Published online 2020 Jan 22. doi: 10.3233/JND-190399

PMCID:: PMC7029365

Abstract Article PDF–300K

Select item 582602414.

SMA Diagnosis: Detection of SMN1 Deletion with Real-Time mCOP-PCR System Using Fresh Blood DNA

EMMA TABE EKO NIBA, MAWADDAH AR ROCHMAH, NUR IMMA FATIMAH HARAHAP, HIROYUKI AWANO, ICHIRO MORIOKA, KAZUMOTO IIJIMA, TOSHIO SAITO, KAYOKO SAITO, ATSUKO TAKEUCHI, POH SAN LAI, YOSHIHIRO BOUIKE, HISAHIDE NISHIO, MASAKAZU SHINOHARA

Kobe J Med Sci. 2017; 63(3): E80–E83. Published online 2017 Mar 1.

PMCID:: PMC5826024

Abstract Article PDF–337K

Select item 538641515.

Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage

Michael Parks, Samantha Court, Benjamin Bowns, Siobhan Cleary, Samuel Clokie, Julie Hewitt, Denise Williams, Trevor Cole, Fiona MacDonald, Mike Griffiths, Stephanie Allen

Eur J Hum Genet. 2017 Apr; 25(4): 416–422. Published online 2017 Jan 25. doi: 10.1038/ejhg.2016.195

PMCID:: PMC5386415

Abstract Article PDF–828K

Select item 498948316.

New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy

Zhidai Liu, Penghui Zhang, Xiaoyan He, Shan Liu, Shi Tang, Rong Zhang, Xinbin Wang, Junjie Tan, Bin Peng, Li Jiang, Siqi Hong, Lin Zou

BMC Neurol. 2016; 16: 141. Published online 2016 Aug 17. doi: 10.1186/s12883-016-0651-y

PMCID:: PMC4989483

Abstract Article PDF–1.5M

Select item 472954617.

Established Stem Cell Model of Spinal Muscular Atrophy Is Applicable in the Evaluation of the Efficacy of Thyrotropin-Releasing Hormone Analog

Kazuki Ohuchi, Michinori Funato, Zenichiro Kato, Junko Seki, Chizuru Kawase, Yuya Tamai, Yoko Ono, Yuki Nagahara, Yasuhiro Noda, Tsubasa Kameyama, Shiori Ando, Kazuhiro Tsuruma, Masamitsu Shimazawa, Hideaki Hara, Hideo Kaneko

Stem Cells Transl Med. 2016 Feb; 5(2): 152–163. Published online 2015 Dec 18. doi: 10.5966/sctm.2015-0059