Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families by Shanshan Gao, Duo Chen, Qianqian Li, Xuechao Zhao, Chen Chen, Lina Liu, Miao Jiang, Zhenhua Zhao, Yanhua Wang, Xiangdong Kong

Subjects: “…Spinal muscular atrophy…”
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Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy by Hooi Ling Teoh, Kate Carey, Hugo Sampaio, David Mowat, Tony Roscioli, Michelle Farrar

“…This review incorporates an overview of the clinical manifestations, genetics, and pathophysiology of inherited paediatric motor neuron disorders beyond classic SMN1-related spinal muscular atrophy and describes recent advances in next generation sequencing and its clinical application. …”
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Healthcare Utilization, Costs of Care, and Mortality Among Patients With Spinal Muscular Atrophy by Hiangkiat Tan, Tao Gu, Er Chen, Rajeshwari Punekar, Perry B. Shieh

“…**Objectives:** To understand treatment patterns, healthcare resource utilization, and costs of care among patients with spinal muscular atrophy (SMA). **Methods:** SMA patients were identified from a large managed care population using administrative claims data from January 2006 to March 2016. …”
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Safety and Efficacy of Nusinersen Focusing on Renal and Hematological Parameters in Spinal Muscular Atrophy by Hüseyin Bahadır Şenol, Gizem Yıldız, Ayşe İpek Polat, Adem Aydın, Ayşe Semra Hız, Alper Soylu, Uluç Yiş

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COVID-19 Infection in Spinal Muscular Atrophy Associated with Multisystem Inflammatory Syndrome by Rafat Mosalli, Amirah Al Matrafi, Mohammed A. Ghazi, Gamal A. Aboumousatafa, Bosco Paes

“…We present a case report of a 3-year-old-female with generalized hypotonia and respiratory failure due to spinal muscular atrophy who tested positive for COVID-19 and developed multisystem inflammatory syndrome that was treated with intravenous immunoglobulin and tocilizumab and subsequently died. …”
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Quality of life in patients with spinal muscular atrophy in Brazil: patient self-assessment and carer perception by Maíra Coelho, Marise Bueno Zonta, Salmo Raskin, Silvia Valderramas

“…ABSTRACT Objectives: The aim of this study was to assess the perception of quality of life of patients with spinal muscular atrophy (SMA) and investigate whether there is a correlation between patients’ perception and that of their carers. …”
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Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study by Jana Zang, Deike Weiss, Charlotte Dumitrascu, Julia Glinzer, Marie Wegner, Anna Strube, Jonas Denecke, Almut Niessen, Christina Pflug

Subjects: “…Spinal muscular atrophy…”
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Exercise Combined with Electrotherapy Enhances Motor Function in an Adolescent with Spinal Muscular Atrophy Type III by Massimiliano Gobbo, Sara Lazzarini, Laura Vacchi, Paolo Gaffurini, Luciano Bissolotti, Alessandro Padovani, Massimiliano Filosto

“…However, concerning Spinal Muscular Atrophy (SMA), limited evidence exists on the role of electrotherapy as an adjunct for improving muscle strength and function. …”
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Reduced white matter integrity and disrupted brain network in children with type 2 and 3 spinal muscular atrophy by Huirong Nie, Shasha Lan, Huan Wang, Pei Xiang, Mengzhen Yan, Yang Fan, Wanqing Shen, Yijuan Li, Wen Tang, Zhiyun Yang, Yujian Liang, Yingqian Chen

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“…They were just treating her Symptom by Symptom”: maternal experiences of having a child with spinal muscular atrophy in Ghana by Esther Doe-Yo Tawiah, Jacob Owusu Sarfo

Subjects: “…Spinal muscular atrophy…”
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Weight-Loss Cognitive-Behavioural Treatment and Essential Amino Acid Supplementation in a Patient with Spinal Muscular Atrophy and Obesity by Marwan El Ghoch, Paola Vittoria Bazzani, Simona Calugi, Riccardo Dalle Grave

“…Spinal muscular atrophy is a genetic neuromuscular disease characterised by muscle atrophy, hypotonia, weakness, and progressive paralysis. …”
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Recent Progress in the Identification of the X-Linked Infantile Spinal Muscular Atrophy (Xl-SMA) Gene: Implications for Neuronal Apoptosis by L. L. Baumbach, D. Dressman, H. Basterrechea, M. E. Ahearn, N. T. Bech-Hansen, R. D. Clark, A. Meind, E. Hoffman

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Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study by Tamaki Kato, Mamoru Yokomura, Yutaka Osawa, Kensuke Matsuo, Yuji Kubo, Taihei Homma, Kayoko Saito

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3′ Splice Site Sequences of Spinal Muscular Atrophy Related SMN2 Pre-mRNA Include Enhancers for Nearby Exons by Sunghee Cho, Heegyum Moon, Tiing Jen Loh, Hyun Kyung Oh, Hey-Ran Kim, Myung-Geun Shin, D. Joshua Liao, Jianhua Zhou, Xuexiu Zheng, Haihong Shen

“…Spinal muscular atrophy (SMA) is a human genetic disease which occurs because of the deletion or mutation of SMN1 gene. …”
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Spinal presentations in children with type 1 spinal muscular atrophy on nusinersen treatment across the SMA-REACH UK network: a retrospective national observational study by Francesco Muntoni, Giovanni Baranello, Pinki Munot, Mariacristina Scoto, Adnan Manzur, Marion Main, Evelin Milev, Lianne Abbott, Victoria Selby, Amy Wolfe, Annemarie Rohwer, Catherine Rye, Sarah Gregson, Grainne NicFhirleinn, Rosanna Raab, Heather McMurchie, Angela Topping, Faye Mason, Jennie Sheehan, Felicity Vann, Steph Wadsworth, José Longatto, Lindsey Pallant, Nick Emery, Jenny Moustoukas, Sarah D’Urso, Kay White, Efthymia Panagiotopoulou

“…Background Prior to the introduction of disease-modifying treatments (DMTs), children with type 1 spinal muscular atrophy (SMA) typically did not survive beyond the age of 2 years; management was mainly palliative. …”
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Correction: AlTawari et al. Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait.... by Asma AlTawari, Mohammad Zakaria, Walaa A. Kamel, Nayera Shaalan, Gamal Ahmed Ismail Elghazawi, Mohamed Esmat Anwar Ali, Dalia Salota, Amr Attia, Ehab Elsayed Ali Elanany, Osama Shalaby, Fatema Alqallaf, Vesna Mitic, Laila Bastaki

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Tofersen and other antisense oligonucleotides in ALS by Albert Ludolph, Maximilian Wiesenfarth

“…Nusinersen treatment was a breakthrough intervention in the recessive disease spinal muscular atrophy, and superoxide dismutase 1 (SOD1) amyotrophic lateral sclerosis (ALS) seems to be the paradigm disease in dominant degenerative diseases. …”
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Generating Diverse Spinal Motor Neuron Subtypes from Human Pluripotent Stem Cells by Rickie Patani

“…Motor neurons (MNs) represent a diverse pool of neuronal subtypes exhibiting differential vulnerability in different human neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). The ability to predictably manipulate MN subtype lineage restriction from human pluripotent stem cells (PSCs) will form the essential basis to establishing accurate, clinically relevant in vitro disease models. …”
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Neuromuscular diseases: genomics-driven advances by Anna Cho

“…Gene therapy has been a transformative breakthrough in the treatment of NMDs. In spinal muscular atrophy (SMA), therapies like nusinersen, onasemnogene abeparvovec, and risdiplam have dramatically improved patient outcomes. …”
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Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia by Layla Masuda, Akihiro Hasegawa, Hiromi Kamura, Fuyuki Hasegawa, Michihiro Yamamura, Kosuke Taniguchi, Yuki Ito, Kenichiro Hata, Osamu Samura, Aikou Okamoto

“…Abstract Type 2 spinal muscular atrophy with lower extremity dominance (SMALED2) is caused by bicaudal D cargo adaptor 2 (BICD2) variants. …”
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