Results 101 to 110 of about 1,670 (170)

Newborn screening for spinal muscular atrophy in Japan: One year of experience

Molecular Genetics and Metabolism Reports, 2022
Spinal muscular atrophy (SMA) is a degenerative neuromuscular disease that causes progressive muscle weakness and atrophy due to loss of the anterior horn cells of the spinal cord.
Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Shiro Ozasa, Keiko Nomura, Kentaro Okada, Natsumi Fujiyama, Kimitoshi Nakamura   +8 more
doaj  

A review of functional assessment scales in non-sitters with spinal muscular atrophy (SMA) [PDF]

, 2018
Zuzanna Gierlak-Wójcicka, Małgorzata Burlewicz, Anna Potulska‐Chromik, Anna Kostera‐Pruszczyk   +3 more
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EFFECTIVENESS OF ADAPTED PHYSICAL EXERCISES IN SPINAL MUSCULAR ATROPHY (SMA) TYPE II [PDF]

, 2023
Eliso Murvanidze
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An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

, 2000
Brunhilde Wirth
openalex   +2 more sources

Cognitive impairment in children with 5q-associated spinal muscular atrophy type 1: two case reports and the review of the literature

Frontiers in Pediatrics
Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations in the survival motor neuron 1 (SMN1) gene on chromosome 5, leading to the degeneration of lower motor neurons.
Hua Yang, Hua Yang, Jie Yang, Jie Yang, Yawen Xue, Lihui Liao, Qianyun Cai, Qianyun Cai, Rong Luo, Rong Luo   +9 more
doaj   +1 more source

An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials [PDF]

, 2019
Basil T. Darras, Michelle A. Farrar, Eugenio Mercuri, Richard S. Finkel, Richard Foster, Steven G. Hughes, Ishir Bhan, Wildon Farwell, Sarah Gheuens   +8 more
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Clinical Profile of Genetically Confirmed Spinal Muscular Atrophy (SMA) Among Filipino Children Less Than 18 Years Old [PDF]

, 2023
Lalaine Villaflor-Oida, Raymond L. Rosales, Ma. Antonia Aurora M Valencia, Michelle G Sy, Yuh‐Jyh Jong   +4 more
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PRO44 THE ECONOMIC IMPACT AND HEALTH-RELATED QUALITY OF LIFE OF SPINAL MUSCULAR ATROPHY (SMA). AN ANALYSIS ACROSS THREE EUROPEAN COUNTRIES [PDF]

, 2019
Julio López Bastida, Luz María Peña-Longobardo, Isaac Aranda-Reneo, Juan Oliva, Svenja Litzkendorf, Isabelle Durand‐Zaleski, Eduardo F. Tizzano   +6 more
openalex   +1 more source

Generation of a spinal muscular atrophy type III patient-specific induced pluripotent stem cell line ICGi003-A

Stem Cell Research, 2020
Spinal muscular atrophy (SMA) is a genetic disease, which characterized by the degeneration of motor neurons in the spinal cord and further striated muscle atrophy. The research of the processes in diseased neurons is complicated due to the impossibility
V.S. Ovechkina, M.A. Maretina, A.A. Egorova, V.S. Baranov, A.V. Kiselev, S.M. Zakian, K.R. Valetdinova   +6 more
doaj  

Author response: SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples

, 2021
Emanuela Abiusi, Paola Infante, Cinzia Cagnoli, Ludovica Lospinoso Severini, Marika Pane, Giorgia Coratti, Maria Carmela Pera, Adele D’Amico, F Diano, Agnese Novelli, Serena Spartano, Stefania Fiori, Giovanni Baranello, Isabella Moroni, Marina Mora, Maria Barbara Pasanisi, Krizia Pocino, Loredana Le Pera, Davide D’Amico, Lorena Travaglini, Francesco Ria, Claudio Bruno, Denise Locatelli, Enrico Bertini, Lucia Morandi, Eugenio Mercuri, Lucia Di Marcotullio, Francesco Danilo Tiziano   +27 more
openalex   +1 more source