Works about SPINAL muscular atrophy

Results: 2625

SMA Community Priorities for Future Drug Therapies: Cross-Sectional Survey Findings Representing 410 Adults with SMA.

Published in:

Neurology & Therapy, 2025, v. 14, n. 3, p. 1083, doi. 10.1007/s40120-025-00753-7

By:

Peterson, Ilse S.;
Chitale, Ramaa;
Curry, Mary A.;
Belter, Lisa T.

Publication type:

Article

Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in Australian Hospitals.

Published in:

Neurology & Therapy, 2025, v. 14, n. 3, p. 1007, doi. 10.1007/s40120-025-00744-8

By:

Woodcock, Ian R.;
Kariyawasam, Didu S.;
Kava, Maina P.;
Yiu, Eppie M.;
Clark, Damian;
Adams, Jane;
Bischof, Matthias;
Peacock, Adrian;
Taylor, Colman;
Smith, Nicholas J. C.

Publication type:

Article

A perioperative nursing care protocol for patients with spinal muscular atrophy (SMA) type II or type III undergoing spinal surgery: a 4-year experience in 24 patients.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03718-z

By:

Li, Gaoyang;
Xu, Kexin;
Liu, Di;
Wu, Nan;
Zhang, Terry Jianguo;
Chen, Yaping

Publication type:

Article

Gene therapy: principles, challenges and use in clinical practice.

Published in:

Wiener Klinische Wochenschrift, 2025, v. 137, n. 9, p. 261, doi. 10.1007/s00508-024-02368-8

By:

Ay, Cihan;
Reinisch, Andreas

Publication type:

Article

Intra-amniotic antisense oligonucleotide treatment improves phenotypes in preclinical models of spinal muscular atrophy.

Published in:

Science Translational Medicine, 2025, v. 17, n. 798, p. 1, doi. 10.1126/scitranslmed.adv4656

By:

Borges, Beltran;
Brown, Stephen M.;
Chen, Wan-Jin;
Clarke, Maria T.;
Herzeg, Akos;
Park, Jae Hong;
Ross, Joshua;
Kong, Lingling;
Denton, Madeline;
Smith, Amy K.;
Lum, Tony;
Zada, Fareha Moulana;
Cordero, Marco;
Gupta, Nalin;
Cook, Sarah E.;
Murray, Heather;
Matson, John;
Klein, Stephanie;
Bennett, C. Frank;
Krainer, Adrian R.

Publication type:

Article

Post-Marketing Safety of Spinal Muscular Atrophy Therapies: Analysis of Spontaneous Adverse Drug Reactions from EudraVigilance.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 9, p. 3173, doi. 10.3390/jcm14093173

By:

Belančić, Andrej;
Mas, Petar;
Miletić, Lara;
Kovačić Bytyqi, Barbara;
Vitezić, Dinko

Publication type:

Article

诺西那生钠联合利司扑兰治疗脊髓性肌萎缩症10例并文献复习.

Published in:

Chinese Journal of Contemporary Pediatrics, 2025, v. 27, n. 4, p. 458, doi. 10.7499/j.issn.1008-8830.2411114

By:

段浩林;
张慈柳;
杨丽芬;
何芳;
毛蕾蕾;
彭镜

Publication type:

Article

Postmarketing adverse events associated with onasemnogene abeparvovec: a real-world pharmacovigilance study.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03715-2

By:

Chen, Tianyu;
Chen, Qiying;
Ye, Jingfang;
Wu, Yuzhu;
Liu, Ting;
Zhang, Yuezhen

Publication type:

Article

Spinální svalová atrofie a její diferenciální diagnostika. Kazuistika pacienta a jeho cesta za diagnózou.

Published in:

Neurologie Pro Praxi, 2025, v. 26, n. 2, p. 169, doi. 10.36290/neu.2025.023

By:

Parmová, Olesja

Publication type:

Article

Anesthesia and perioperative medical management of children with spinal muscular atrophy.

Published in:

Pediatric Anesthesia, 2009, v. 19, n. 11, p. 1054, doi. 10.1111/j.1460-9592.2009.03055.x

By:

Graham, Robert J.;
Athiraman, Umeshkumar;
Laubach, Anjolie E.;
Sethna, Navil F.

Publication type:

Article

Spinal muscular atrophy: the challenges of ‘doing the right thing’.

Published in:

2009

By:

Wilton, Niall C. T.

Publication type:

Editorial

WRAP53 Is Essential for Cajal Body Formation and for Targeting the Survival of Motor Neuron Complex to Cajal Bodies.

Published in:

PLoS Biology, 2010, v. 8, n. 11, p. 1, doi. 10.1371/journal.pbio.1000521

By:

Mahmoudi, Salah;
Henriksson, Sofia;
Weibrecht, Irene;
Smith, Stephen;
Söderberg, Ola;
Strömblad, Staffan;
Wiman, Klas G.;
Farnebo, Marianne

Publication type:

Article

Enhancement of SMN2 Exon 7 Inclusion by Antisense Oligonucleotides Targeting the Exon.

Published in:

PLoS Biology, 2007, v. 5, n. 4, p. 0729, doi. 10.1371/journal.pbio.0050073

By:

Yimin Hua;
Vickers, Timothy A.;
Baker, Brenda F.;
Bennett, C. Frank;
Krainer, Adrian R.

Publication type:

Article

Bridging the Gap: Translational Medicine and Novel Therapies in Neuromuscular Diseases.

Published in:

Journal of Integrative Neuroscience, 2024, v. 23, n. 5, p. 1, doi. 10.31083/j.jin2305094

By:

Filosto, Massimiliano

Publication type:

Article

Plastic Spinal Motor Circuits in Health and Disease.

Published in:

Journal of Integrative Neuroscience, 2023, v. 22, n. 6, p. 1, doi. 10.31083/j.jin2206167

By:

Windhorst, Uwe;
Dibaj, Payam

Publication type:

Article

SIMULATING MILD SYSTEMATIC AND FOCAL DEMYELINATING NEUROPATHIES:: MEMBRANE PROPERTY ABNORMALITIES.

Published in:

Journal of Integrative Neuroscience, 2006, v. 5, n. 4, p. 595, doi. 10.1142/S0219635206001331

By:

STEPHANOVA, D. I.;
ALEXANDROV, A. S.

Publication type:

Article

Delayed-onset paralysis induced by spontaneous spinal epidural hematoma communicated with hematoma in the paraspinal muscle in a 6-month-old girl: a case report.

Published in:

Child's Nervous System, 2019, v. 35, n. 2, p. 379, doi. 10.1007/s00381-018-3971-y

By:

Uei, Hiroshi;
Tokuhashi, Yasuaki;
Maseda, Masafumi;
Nakahashi, Masahiro;
Sawada, Hirokatsu;
Miyakata, Hiroyuki

Publication type:

Article

Congenital cervical kyphosis in an infant with Ehlers-Danlos syndrome.

Published in:

2018

By:

Kobets, Andrew J.;
Komlos, Daniel;
Houten, John K.

Publication type:

Case Study

Glucagon-like peptide-1 analog therapy in rare genetic diseases: monogenic obesity, monogenic diabetes, and spinal muscular atrophy.

Published in:

Acta Diabetologica, 2023, v. 60, n. 8, p. 1099, doi. 10.1007/s00592-023-02109-9

By:

Zaitoon, Hussein;
Lubetzky, Ronit;
Amir, Achiya Z.;
Moran-Lev, Hadar;
Sagi, Liora;
Yacobi-Bach, Michal;
Borger, Ophir;
Chorna, Efrat;
Lebenthal, Yael;
Brener, Avivit

Publication type:

Article

The Burden of Primary Caregivers of Spinal Muscular Atrophy Patients and Their Needs.

Published in:

Turkish Archives of Pediatrics, 2021, v. 56, n. 4, p. 366, doi. 10.5152/TurkArchPediatr.2021.20117

By:

Acar, Ayça Evkaya;
Saygı, Evrim Karadağ;
İmamoğlu, Sena;
Öztürk, Gülten;
Ünver, Olcay;
Ergenekon, Pınar;
Gökdemir, Yasemin;
Özel, Gülnur;
Türkdoğan, Dilşad

Publication type:

Article

Two Cases of Infant Botulism Presenting with Altered Mental Status.

Published in:

Hawai'i Journal of Health & Social Welfare, 2020, v. 79, p. 101

By:

August, Marian;
Hamele, Mitchell

Publication type:

Article

Investigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohort.

Published in:

Brain Communications, 2024, v. 6, n. 5, p. 1, doi. 10.1093/braincomms/fcae312

By:

Abati, Elena;
Gagliardi, Delia;
Manini, Arianna;
Bo, Roberto Del;
Ronchi, Dario;
Meneri, Megi;
Beretta, Francesca;
Sarno, Annalisa;
Rizzo, Federica;
Monfrini, Edoardo;
Fonzo, Alessio Di;
Pellecchia, Maria Teresa;
Brusati, Alberto;
Silani, Vincenzo;
Comi, Giacomo Pietro;
Ratti, Antonia;
Verde, Federico;
Ticozzi, Nicola;
Corti, Stefania

Publication type:

Article

Comparative analysis of neurofilaments and biomarkers of muscular damage in amyotrophic lateral sclerosis.

Published in:

Brain Communications, 2024, v. 6, n. 5, p. 1, doi. 10.1093/braincomms/fcae288

By:

Vidovic, Maximilian;
Lapp, Hanna Sophie;
Weber, Constanze;
Plitzko, Lydia;
Seifert, Michael;
Steinacker, Petra;
Otto, Markus;
Hermann, Andreas;
Günther, René

Publication type:

Article

Timing of SMN replacement therapies in mouse models of spinal muscular atrophy: a systematic review and meta-analysis.

Published in:

Brain Communications, 2024, v. 6, n. 4, p. 1, doi. 10.1093/braincomms/fcae267

By:

Chaytow, Helena;
Motyl, Anna A L;
Huang, Yu-Ting;
Wong, Charis;
Currie, Gillian L;
Bahor, Zsanett;
Sena, Emily;
Gillingwater, Thomas H

Publication type:

Article

Role of senataxin in R-loop-mediated neurodegeneration.

Published in:

Brain Communications, 2024, v. 6, n. 4, p. 1, doi. 10.1093/braincomms/fcae239

By:

Kannan, Annapoorna;
Leela, Shyni Gangadharan;
Branzei, Dana;
Gangwani, Laxman

Publication type:

Article

Spinal cord neurone loss and foot placement changes in a rat knock-in model of amyotrophic lateral sclerosis Type 8.

Published in:

Brain Communications, 2024, v. 6, n. 3, p. 1, doi. 10.1093/braincomms/fcae184

By:

Murage, Brenda;
Tan, Han;
Mashimo, Tomoji;
Jackson, Mandy;
Skehel, Paul A

Publication type:

Article

Serum myostatin as a candidate disease severity and progression biomarker of spinal muscular atrophy.

Published in:

Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae062

By:

Albuquerque, Ana Letícia Amorim de;
Chadanowicz, Júlia Kersting;
Giudicelli, Giovanna Câmara;
Staub, Ana Lucia Portella;
Weber, Arthur Carpeggiani;
Silva, Jordana Miranda De Souza;
Becker, Michele Michelin;
Kowalski, Thayne Woycinck;
Siebert, Marina;
Saute, Jonas Alex Morales

Publication type:

Article

Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2-4.

Published in:

Brain Communications, 2023, v. 5, n. 1, p. 1, doi. 10.1093/braincomms/fcac324

By:

Stam, Marloes;
Wijngaarde, Camiel A.;
Bartels, Bart;
Asselman, Fay-Lynn;
Otto, Louise A. M.;
Habets, Laura E.;
van Eijk, Ruben P. A.;
Middelkoop, Bas M.;
Goedee, H. Stephan;
de Groot, Janke F.;
Roes, Kit C. B.;
Schoenmakers, Marja A. G. C.;
Nieuwenhuis, Edward E. S.;
Cuppen, Inge;
van den Berg, Leonard H.;
Wadman, Renske I.;
van der Pol, W. Ludo

Publication type:

Article

Population-based assessment of nusinersen efficacy in children with spinal muscular atrophy: a 3-year follow-up study.

Published in:

Brain Communications, 2022, v. 4, n. 6, p. 1, doi. 10.1093/braincomms/fcac269

By:

Scheijmans, Féline E. V.;
Cuppen, Inge;
van Eijk, Ruben P. A.;
Wijngaarde, Camiel A.;
Schoenmakers, Marja A. G. C.;
van der Woude, Danny R.;
Bartels, Bart;
Veldhoen, Esther S.;
Oude Lansink, Irene L. B.;
Groen, Ewout J. N.;
Asselman, Fay-Lynn;
Wadman, Renske I.;
van der Pol, W. Ludo

Publication type:

Article

SMA Tarama, Tanı ve Tedavisinde Karşılaşılan Etik Sorunlar, Sağlık Politikalarında Yükselen Popülizm ve Medyanın Etkisi: Sistematik Derleme.

Published in:

Turkiye Klinikleri Journal of Medical Ethics-Law & History / Türkiye klinikleri tıp Etiği, Hukuku ve Tarihi Dergisi, 2024, v. 32, n. 1, p. 64, doi. 10.5336/mdethic.2023-99285

By:

DİNÇ, Gülten;
AKIN, Mehmet Gökhan;
ERAT, Zeynep

Publication type:

Article

Spirituality on the Blog - Interpretation of the Narrative of a SMA Patient.

Published in:

Horyzonty Wychowania, 2022, v. 21, n. 58, p. 69, doi. 10.35765/hw.2022.2158.08

By:

Ciszewska, Katarzyna

Publication type:

Article

PRZEGLĄD PIŚMIENNICTWA.

Published in:

Polski Przegląd Neurologiczny, 2024, v. 20, n. 4, p. 242, doi. 10.5603/ppn.103875

By:

Marschollek, Karol

Publication type:

Article

Opuszkowo-rdzeniowy zanik mięśni -- opis dwóch przypadków klinicznych.

Published in:

Polski Przegląd Neurologiczny, 2024, v. 20, n. 2, p. 129, doi. 10.5603/ppn.97231

By:

Dewerenda-Sikora, Milena;
Kokot, Anna;
Migacz, Agata;
Lasek-Bal, Anetta

Publication type:

Article

OD REDAKCJI.

Published in:

Polski Przegląd Neurologiczny, 2024, v. 20, n. 2, p. V, doi. 10.5603/ppn.100734

By:

Budrewicz, Sławomir;
Nowakowska-Kotas, Marta

Publication type:

Article

Expression Profile of Long Non-Coding RNAs during Early Postnatal Development of Mouse Spinal Cord.

Published in:

Non-Coding RNA, 2020, v. 6, n. 2, p. 1, doi. 10.3390/ncrna6020018

By:

Verheijen, Bert M.

Publication type:

Article

Birth of spinal muscular atrophy unaffected baby from genetically at-risk parents following a pre-implantation genetic screening: A case report.

Published in:

International Journal of Reproductive Biomedicine, 2022, v. 20, n. 9, p. 779, doi. 10.18502/ijrm.v20i9.12068

By:

Polim, Arie Adrainus;
Handayani, Nining;
Nurputra, Dian Kesumapramudya;
Lubis, Anggia Melanie;
Sirait, Batara;
Jakobus, Dennis;
Boediono, Arief;
Sini, Ivan

Publication type:

Article

Recent therapeutic developments in spinal muscular atrophy.

Published in:

Turkish Journal of Medical Sciences, 2018, v. 48, n. 2, p. 203, doi. 10.3906/sag-1712-1

By:

BORA, Gamze;
YEŞBEK KAYMAZ, Ayşe;
BEKİRCAN KURT, Can Ebru;
HALİLOĞLU, Vildan Göknur;
TOPALOĞLU, Haluk Aydın;
ERDEM YURTER, Hayat;
ERDEM ÖZDAMAR, Sevim

Publication type:

Article

Spinal Muscle Atrophy: Clinical Cases.

Published in:

Journal of Health Sciences (2447-8938), 2021, v. 23, n. 2, p. 149, doi. 10.17921/2447-8938.2021v23n2p149-153

By:

Tainá Licoviski, Pamela;
Victoria Bini, Clara;
Grégori Turski, Alisson;
de Oliveira Bruno, Greicy Kelly;
Cristina Borchardt, Luana;
Dorigoni Bini, Ana Carolina

Publication type:

Article

The Reform of the Newborn Screening Policy: Spinal Muscular Atrophy.

Published in:

Issues in Law & Medicine, 2021, v. 36, n. 2, p. 211

By:

Bartos, Blanka

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

Home Use of an Upper Extremity Exoskeleton in Children with SMA: A Pilot Study.

Published in:

Open Journal of Occupational Therapy (OJOT), 2021, v. 9, n. 2, p. 1, doi. 10.15453/2168-6408.1762

By:

Shank, Tracy M.;
Rahman, Tariq

Publication type:

Article

The Tyranny of Hope.

Published in:

Hastings Center Report, 2019, v. 49, n. 4, p. 3, doi. 10.1002/hast.1026

By:

Geller, Gail

Publication type:

Article

The Outlier.

Published in:

Hastings Center Report, 2013, v. 43, n. 1, p. 8, doi. 10.1002/hast.123

By:

Kirschner, Kristi L.

Publication type:

Article

Health-related quality of life of adults with spinal muscular atrophy: insights from a nationwide patient registry in Germany.

Published in:

Quality of Life Research, 2024, v. 33, n. 7, p. 1949, doi. 10.1007/s11136-024-03665-5

By:

Landfeldt, Erik;
Leibrock, Berenike;
Hussong, Justine;
Thiele, Simone;
Walter, Maggie C.;
Moehler, Eva;
Zemlin, Michael;
Dillmann, Ulrich;
Flotats-Bastardas, Marina

Publication type:

Article

Correction to: Measuring quality of life in children with spinal muscular atrophy: a systematic literature review.

Published in:

2018

By:

Vaidya, Shalvaree;
Boes, Stefan

Publication type:

journal article

Measuring quality of life in children with spinal muscular atrophy: a systematic literature review.

Published in:

2018

By:

Vaidya, Shalvaree;
Boes, Stefan

Publication type:

journal article

Transcriptional profiling of differentially vulnerable motor neurons at pre-symptomatic stage in the Smn<sup>2b/-</sup> mouse model of spinal muscular atrophy.

Published in:

Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0231-1

By:

Murray, Lyndsay M.;
Beauvais, Ariane;
Gibeault, Sabrina;
Courtney, Natalie L.;
Kothary, Rashmi

Publication type:

Article

Depletion of SMN protein in mesenchymal progenitors impairs the development of bone and neuromuscular junction in spinal muscular atrophy.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.92731

By:

Sang-Hyeon Hann;
Seon-Yong Kim;
Ye Lynne Kim;
Young-Woo Jo;
Jong-Seol Kang;
Hyerim Park;
Se-Young Choi;
Young-Yun Kong

Publication type:

Article

Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in Ningde City, Fujian Province.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 2, p. 1, doi. 10.1002/mgg3.70077

By:

Lu, JiaoJiao;
Zheng, Xian;
Yang, Jing;
Dong, WenXu;
Cao, LuoYuan;
Zeng, Xiaomei;
Wu, Qinjuan;
Chen, Xunyan;
Fu, XianGuo

Publication type:

Article