Works matching Spinal muscular atrophy

Results: 4476

Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman.

Published in:

Sultan Qaboos University Medical Journal, 2017, v. 17, n. 3, p. 355, doi. 10.18295/squmj.2017.17.03.018

By:

Koul, Roshan;
Al-Futaisi, Amna;
Al-Thihli, Khalid;
Bruwer, Zandre;
Scott, Patrick

Publication type:

Article

High-Frequency Chest-Wall Oscillation in a Noninvasive-Ventilation-Dependent Patient With Type 1 Spinal Muscular Atrophy.

Published in:

Respiratory Care, 2011, v. 56, n. 11, p. 1840, doi. 10.4187/respcare.01155

By:

Keating, Joanna M.;
Collins, Nicola;
Bush, Andrew;
Chatwin, Michelle

Publication type:

Article

Disease Burden in Children With Spinal Muscular Atrophy: Results From a Large Cross-Sectional Study.

Published in:

Journal of Child Neurology, 2023, v. 38, n. 1/2, p. 52, doi. 10.1177/08830738221135918

By:

Rosero, Spencer;
Weinstein, Jennifer;
Seabury, Jamison;
Zizzi, Christine;
Wagner, Ellen;
Varma, Anika;
Heatwole, John;
Alexandrou, Danae;
MS, Nuran Dilek;
Johnson, Brent A.;
Heatwole, Chad

Publication type:

Article

A comprehensive institutional overview of intrathecal nusinersen injections for spinal muscular atrophy.

Published in:

2018

By:

Mousa, Mohammad A.;
Aria, David J.;
Schaefer, Carrie M.;
Kaye, Robin D.;
Abruzzo, Todd A.;
Bernes, Saunder M.;
Willard, Scott D.;
Riemann, Monique C.;
Towbin, Richard B.

Publication type:

journal article

The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1).

Published in:

Acta Neuropathologica, 2005, v. 110, n. 3, p. 289, doi. 10.1007/s00401-005-1056-y

By:

Diers, Alexander;
Kaczinski, Marcel;
Grohmann, Katja;
Hübner, Christoph;
Stoltenburg-Didinger, Gisela

Publication type:

Article

Newborn Screening for Spinal Muscular Atrophy: Variations in Practice and Early Management of Infants with Spinal Muscular Atrophy in the United States.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 58, doi. 10.3390/ijns10030058

By:

Zaidman, Craig M.;
Crockett, Cameron D.;
Wedge, Ethan;
Tabatabai, Grace;
Goedeker, Natalie

Publication type:

Article

Vrodené non-5q proximálne spinálne svalové atrofie u detí.

Published in:

Neurologie Pro Praxi, 2022, v. 23, n. 1, p. 14, doi. 10.36290/neu.2021.074

By:

Trúsiková, Eva;
Okáľová, Katarína;
Králinský, Karol

Publication type:

Article

脊髓性肌萎缩症表型修饰基因的研究进展.

Published in:

Chinese Journal of Contemporary Pediatrics, 2025, v. 27, n. 2, p. 229, doi. 10.7499/j.issn.1008-8830.2410064

By:

潘薇;
综述曹延延;
审校

Publication type:

Article

诺西那生钠治疗脊髓性肌萎缩症儿童的临床分析.

Published in:

Chinese Journal of Contemporary Pediatrics, 2024, v. 26, n. 7, p. 743, doi. 10.7499/j.issn.1008-8830.2401082

By:

郭瑾;
武运红;
张临霞;
纪惠茹;
周娜;
胡晓月

Publication type:

Article

脊髓性肌萎缩症治疗研究进展.

Published in:

Chinese Journal of Contemporary Pediatrics, 2022, v. 24, n. 2, p. 204, doi. 10.7499/j.issn.1008-8830.2110041

By:

杨东铃;
综述;
阮毅燕;
审校

Publication type:

Article

117 例儿童脊髓性肌萎缩症自然病史分析.

Published in:

Chinese Journal of Contemporary Pediatrics, 2021, v. 23, n. 10, p. 1038, doi. 10.7499/j.issn.1008-8830.2106025

By:

杨贇滢;
袁萍;
李梅;
蒋莉;
洪思琦

Publication type:

Article

SMN Transcript Stability: Could Modulation of Messenger RNA Degradation Provide a Novel Therapy for Spinal Muscular Atrophy?

Published in:

Journal of Child Neurology, 2007, v. 22, n. 8, p. 1013, doi. 10.1177/0883073807305669

By:

Heier, Christopher R.;
Gogliotti, Rocky G.;
Didonato, Christine J.

Publication type:

Article

A mixed method study on the impact of living with spinal muscular atrophy in Malaysia from patients' and caregivers' perspectives.

Published in:

2022

By:

Ch'ng, Gaik Siew;
Koh, Karina;
Ahmad-Annuar, Azlina;
Taib, Fahisham;
Koh, Cha Ling;
Lim, Edmund Soon Chin

Publication type:

journal article

Response to the Canadian Agency for Drugs and Technologies in Health and Institut national d'excellence en santé et en services sociaux decision regarding nusinersen for Spinal Muscular Atrophy.

Published in:

Canadian Journal of Neurological Sciences, 2018, v. 45, n. 5, p. 516, doi. 10.1017/cjn.2018.59

By:

Campbell, Craig;
Selby, Kathy;
McMillan, Hugh;
Vajsar, Jiri;
Korngut, Lawrence;
Brais, Bernard;
MacKenzie, Alex;
Oskoui, Maryam

Publication type:

Article

Multidisciplinary approach on divergent outcomes in spinal muscular atrophies: comparing DYNC1H1 and SMN1 gene mutations.

Published in:

Neurological Sciences, 2024, v. 45, n. 9, p. 4583, doi. 10.1007/s10072-024-07613-6

By:

Nurputra, Dian Kesumapramudya;
Sofian, Jessica;
Iskandar, Kristy;
Triono, Agung;
Herini, Elizabeth Siti;
Sunartini;
Ulhaq, Zulvikar Syambani

Publication type:

Article

A novel Xp11.22–22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1606

By:

Liu, Jingwei;
Wang, Kelai;
Li, Baomin;
Yang, Xiaofan

Publication type:

Article

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Published in:

Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 293, doi. 10.1093/brain/awu356

By:

Rossor, Alexander M.;
Oates, Emily C.;
Salter, Hannah K.;
Liu, Yang;
Murphy, Sinead M.;
Schule, Rebecca;
Gonzalez, Michael A.;
Scoto, Mariacristina;
Phadke, Rahul;
Sewry, Caroline A.;
Houlden, Henry;
Jordanova, Albena;
Tournev, Iyailo;
Chamova, Teodora;
Litvinenko, Ivan;
Zuchner, Stephan;
Herrmann, David N.;
Blake, Julian;
Sowden, Janet E.;
Acsadi, Gyuda

Publication type:

Article

Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 6, p. 1714, doi. 10.1093/brain/aws108

By:

Oates, Emily C.;
Reddel, Stephen;
Rodriguez, Michael L.;
Gandolfo, Luke C.;
Bahlo, Melanie;
Hawke, Simon H.;
Lamandé, Shireen R.;
Clarke, Nigel F.;
North, Kathryn N.

Publication type:

Article

Current Aspects of Clinical Genetic Diagnosis in Werdnig-Hoffman Spinal Muscular Atrophy.

Published in:

Medicina Moderna, 2018, v. 25, n. 3, p. 47

By:

Corches, Axinia

Publication type:

Article

Current Aspects of Clinical Genetic Diagnosis in Werdnig-Hoffman Spinal Muscular Atrophy.

Published in:

Medicina Moderna, 2015, v. 22, n. 1, p. 47

By:

Corches, Axinia

Publication type:

Article

Psychological burden in spinal muscular atrophy patients and their families: a systematic review.

Published in:

Egyptian Journal of Neurology, Psychiatry & Neurosurgery, 2022, v. 58, p. 1, doi. 10.1186/s41983-022-00572-9

By:

Sari, Dian Marta;
Wijaya, Laurentia Cindy Gani;
Sitorus, Wintoro Duraman Roives;
Dewi, Mia Milanti

Publication type:

Article

Managing pregnancy in a spinal muscular atrophy type III patient in Indonesia: a case report.

Published in:

2022

By:

Setyaningrum, Cempaka Thursina Srie;
Harahap, Indra Sari Kusuma;
Nurputra, Dian Kesumapramudya;
Rachman, Irwan Taufiqur;
Harahap, Nur Imma Fatimah

Publication type:

journal article

Peak cough flow in children and young people with spinal muscular atrophy types II and III.

Published in:

Fisioterapia e Pesquisa, 2018, v. 25, n. 4, p. 432, doi. 10.1590/1809-2950/18002025042018

By:

de Souza, Carla Peixoto Vinha;
Cerqueira Ribeiro, Regina Kátia;
do Valle Lima, Luana;
Couto Sant'Anna, Clemax;
de Queiroz Campos Araújo, Alexandra Prufer

Publication type:

Article

Mitochondrial Dysfunction in Spinal Muscular Atrophy.

Published in:

2022

By:

Zilio, Eleonora;
Piano, Valentina;
Wirth, Brunhilde

Publication type:

Literature Review

Needleless inhaled anesthesia with sevoflurane: Advantages of a simplified approach for children with spinal muscular atrophy undergoing intrathecal administration of nusinersen.

Published in:

Pediatric Anesthesia, 2023, v. 33, n. 4, p. 282, doi. 10.1111/pan.14630

By:

Salerno, Annalisa;
Picconi, Enzo;
Genovese, Orazio;
Piastra, Marco;
Pulitanò, Silvia M.;
Tosi, Federica;
Mancino, Aldo;
Pane, Marika;
De Sanctis, Roberto;
Carlini, Debora;
Mercuri, Eugenio M.;
Conti, Giorgio

Publication type:

Article

Anesthetic management of pediatric patients undergoing intrathecal nusinersen administration for treatment of spinal muscular atrophy: A single‐center experience.

Published in:

Pediatric Anesthesia, 2021, v. 31, n. 2, p. 160, doi. 10.1111/pan.13964

By:

Brollier, Lauren D.;
Matuszczak, Maria;
Marri, Tejaswi;
Carbajal, Jael G.;
Moorman, Andrew T.;
Sorial, Emad M.;
Jain, Ranu

Publication type:

Article

Onasemnogene Abeparvovec (AVXS-101) for the Treatment of Spinal Muscular Atrophy.

Published in:

Journal of Pediatric Pharmacology & Therapeutics, 2021, v. 26, n. 5, p. 437, doi. 10.5863/1551-6776-26.5.437

By:

Naveed, Aimen;
Calderon, Hillary

Publication type:

Article

SMN2 Copy Number Association with Spinal Muscular Atrophy Severity: Insights from Colombian Patients.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 21, p. 6402, doi. 10.3390/jcm13216402

By:

Lamadrid-González, José;
Castellar-Leones, Sandra;
Contreras-Velásquez, Julio César;
Bermúdez, Valmore

Publication type:

Article

Chronic Pain in Patients with Spinal Muscular Atrophy in Switzerland: A Query to the Spinal Muscular Atrophy Registry.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 10, p. 2798, doi. 10.3390/jcm13102798

By:

Steiner, Leonie;
Tscherter, Anne;
Henzi, Bettina;
Branca, Mattia;
Carda, Stefano;
Enzmann, Cornelia;
Fluss, Joël;
Jacquier, David;
Neuwirth, Christoph;
Ripellino, Paolo;
Scheidegger, Olivier;
Schlaeger, Regina;
Schreiner, Bettina;
Stettner, Georg M.;
Klein, Andrea

Publication type:

Article

Corrigendum: Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy.

Published in:

2021

By:

Xia, Yu;
Feng, Yijie;
Xu, Lu;
Chen, Xiaoyang;
Gao, Feng;
Mao, Shanshan

Publication type:

Correction Notice

Riluzole pharmacokinetics in young patients with spinal muscular atrophy.

Published in:

British Journal of Clinical Pharmacology, 2011, v. 71, n. 3, p. 403, doi. 10.1111/j.1365-2125.2010.03843.x

By:

Abbara, Chadi;
Estournet, Brigitte;
Lacomblez, Lucette;
Lelièvre, Benedicte;
Ouslimani, Amal;
Lehmann, Blandine;
Viollet, Louis;
Barois, Annie;
Diquet, Bertrand

Publication type:

Article

Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait.

Published in:

2024

By:

AlTawari, Asma;
Zakaria, Mohammad;
Kamel, Walaa;
Shaalan, Nayera;
Elghazawi, Gamal Ahmed Ismail;
Ali, Mohamed Esmat Anwar;
Salota, Dalia;
Attia, Amr;
Elanay, Ehab Elsayed Ali;
Shalaby, Osama;
Alqallaf, Fatema;
Mitic, Vesna;
Bastaki, Laila

Publication type:

Case Study

Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency.

Published in:

Journal of Medicine & Life, 2021, v. 14, n. 3, p. 424, doi. 10.25122/jml-2021-0147

By:

Axente, Mihaela;
Shelby, Elena-Silvia;
Mirea, Andrada;
Sporea, Corina;
Badina, Mihaela;
Padure, Liliana;
Ion, Daniela Adriana

Publication type:

Article

Neurofilament light chain and profilin‐1 dynamics in 30 spinal muscular atrophy type 3 patients treated with nusinersen.

Published in:

European Journal of Neurology, 2024, v. 31, n. 10, p. 1, doi. 10.1111/ene.16393

By:

Musso, G.;
Bello, L.;
Capece, G.;
Bozzoni, V.;
Caumo, L.;
Sabbatini, D.;
Zangaro, V.;
Sogus, E.;
Cosma, C.;
Petrosino, A.;
Sorarù, G.;
Plebani, M.;
Pegoraro, E.

Publication type:

Article

Identification of UBA1 as the causative gene of an X‐linked non‐Kennedy spinal–bulbar muscular atrophy.

Published in:

European Journal of Neurology, 2022, v. 29, n. 12, p. 3556, doi. 10.1111/ene.15528

By:

Khani, Marzieh;
Nafissi, Shahriar;
Shamshiri, Hosein;
Moazzeni, Hamidreza;
Taheri, Hanieh;
Sadeghi, Mehdi;
Salehi, Najmeh;
Chitsazian, Fereshteh;
Elahi, Elahe

Publication type:

Article

Reply to: Minimal detectable change and minimal clinically important differences in spinal muscular atrophy patients.

Published in:

European Journal of Neurology, 2021, v. 28, n. 6, p. e42, doi. 10.1111/ene.14819

By:

Stolte, Benjamin;
Kleinschnitz, Christoph;
Hagenacker, Tim

Publication type:

Article

Clinical and radiological profile of patients with spinal muscular atrophy type 4.

Published in:

European Journal of Neurology, 2021, v. 28, n. 2, p. 609, doi. 10.1111/ene.14587

By:

Souza, P. V. S.;
Pinto, W. B. V. R.;
Ricarte, A.;
Badia, B. M. L.;
Seneor, D. D.;
Teixeira, D. T.;
Caetano, L.;
Gonçalves, E. A.;
Chieia, M. A. T.;
Farias, I. B.;
Bertini, E.;
Oliveira, A. S. B.

Publication type:

Article

Large deletions within the spinal muscular atrophy gene region in a patient with spinal muscular atrophy type 3.

Published in:

2011

By:

Wei Wei;
Chunyue Chen;
Wenting Liu;
Zhenfang Du;
Xiaoling Chen;
Xianning Zhang

Publication type:

Case Study

Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.

Published in:

2017

By:

Verhaart, Ingrid E. C.;
Robertson, Agata;
Wilson, Ian J.;
Aartsma-Rus, Annemieke;
Cameron, Shona;
Jones, Cynthia C.;
Cook, Suzanne F.;
Lochmüller, Hanns

Publication type:

journal article

Disease burden of spinal muscular atrophy in Germany.

Published in:

2016

By:

Klug, Constanze;
Schreiber-Katz, Olivia;
Thiele, Simone;
Schorling, Elisabeth;
Zowe, Janet;
Reilich, Peter;
Walter, Maggie C.;
Nagels, Klaus H.

Publication type:

journal article

Spinal Muscular Atrophy and Common Therapeutic Advances.

Published in:

Fetal & Pediatric Pathology, 2019, v. 38, n. 3, p. 226, doi. 10.1080/15513815.2018.1520374

By:

Bozorg Qomi, Saeed;
Asghari, Amir;
Salmaninejad, Arash;
Mojarrad, Majid

Publication type:

Article

MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients.

Published in:

Journal of Neurology, 2020, v. 267, n. 4, p. 898, doi. 10.1007/s00415-019-09646-w

By:

Brogna, Claudia;
Cristiano, Lara;
Verdolotti, Tommaso;
Pichiecchio, Anna;
Cinnante, Claudia;
Sansone, Valeria;
Sconfienza, Luca Maria;
Berardinelli, Angela;
Garibaldi, Matteo;
Antonini, Giovanni;
Pane, Marika;
Pera, Maria Carmela;
Antonaci, Laura;
Ficociello, Luana;
Albamonte, Emilio;
Tasca, Giorgio;
Begliuomini, Chiara;
Tartaglione, Tommaso;
Maggi, Lorenzo;
Govoni, Alessandra

Publication type:

Article

Impacto de la caracterización genómica en pacientes con atrofia muscular espinal no 5q.

Published in:

Revista Med, 2023, v. 31, n. 1, p. 25, doi. 10.18359/rmed.6645

By:

Moreno Giraldo, Lina Johanna;
Ponce Ramírez, María Alejandra

Publication type:

Article

Examination of Upper Limb Function and the Relationship with Gross Motor Functional and Structural Parameters in Patients with Spinal Muscular Atrophy.

Published in:

Biomedicines, 2023, v. 11, n. 4, p. 1005, doi. 10.3390/biomedicines11041005

By:

Bieniaszewska, Aleksandra;
Sobieska, Magdalena;
Steinborn, Barbara;
Gajewska, Ewa

Publication type:

Article

Axonal excitability changes in children with spinal muscular atrophy treated with nusinersen.

Published in:

Journal of Physiology, 2022, v. 600, n. 1, p. 95, doi. 10.1113/JP282249

By:

Kariyawasam, Didu S. T.;
D'Silva, Arlene M.;
Herbert, Karen;
Howells, James;
Carey, Kate;
Kandula, Tejaswi;
Farrar, Michelle A.;
Lin, Cindy

Publication type:

Article

Compensatory axon sprouting for very slow axonal die-back in a transgenic model of spinal muscular atrophy type III.

Published in:

Journal of Physiology, 2017, v. 595, n. 5, p. 1815, doi. 10.1113/JP273404

By:

Udina, Esther;
Putman, Charles T.;
Harris, Luke R.;
Tyreman, Neil;
Cook, Victoria E.;
Gordon, Tessa

Publication type:

Article

A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4).

Published in:

Frontiers in Genetics, 2022, v. 12, p. 1, doi. 10.3389/fgene.2021.801253

By:

Perez-Siles, G.;
Ellis, M.;
Ashe, A.;
Grosz, B.;
Vucic, S.;
Kiernan, M. C.;
Morris, K. A.;
Reddel, S. W.;
Kennerson, M. L.

Publication type:

Article

The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.796862

By:

Sarv, Siiri;
Kahre, Tiina;
Vaidla, Eve;
Pajusalu, Sander;
Muru, Kai;
Põder, Haide;
Gross-Paju, Katrin;
Ütt, Sandra;
Žordania, Riina;
Talvik, Inga;
Õiglane-Shlik, Eve;
Muhu, Kristina;
Õunap, Katrin

Publication type:

Article

VALPROIC ACID - A POSSIBLE THERAPEUTIC ALTERNATIVE IN SPINAL MUSCULAR ATROPHY MANAGEMENT.

Published in:

Therapeutics, Pharmacology & Clinical Toxicology, 2011, v. 15, n. 4, p. 309

By:

Ioana, Teleanu Raluca

Publication type:

Article

Population Pharmacokinetics of Nusinersen in the Cerebral Spinal Fluid and Plasma of Pediatric Patients With Spinal Muscular Atrophy Following Intrathecal Administrations.

Published in:

Journal of Clinical Pharmacology, 2017, v. 57, n. 8, p. 1031, doi. 10.1002/jcph.884

By:

Luu, Kenneth T.;
Norris, Daniel A.;
Gunawan, Rudy;
Henry, Scott;
Geary, Richard;
Wang, Yanfeng

Publication type:

Article