Works matching Spinal muscular atrophy

Results: 4587

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

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

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

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

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

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

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

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

"...They were just treating her Symptom by Symptom": maternal experiences of having a child with spinal muscular atrophy in Ghana.

Published in:

BMC Palliative Care, 2025, v. 24, n. 1, p. 1, doi. 10.1186/s12904-025-01730-5

By:

Tawiah, Esther Doe-Yo;
Sarfo, Jacob Owusu

Publication type:

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

Family doctor and paediatrician care for a patient with spinal muscular atrophy.

Published in:

Paediatrics & Family Medicine / Pediatria i Medycyna Rodzinna, 2025, v. 21, n. 1, p. 29, doi. 10.15557/PiMR.2025.0002

By:

Małecki, Paweł;
Witczak, Cezary;
Rutkowski, Radosław;
Kemnitz, Paweł;
Mania, Anna;
Mazur-Melewska, Katarzyna;
Figlerowicz, Magdalena

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

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

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

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 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

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

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

Femoral neck–shaft angle changes based on the severity of neurologic impairment in children with cerebral palsy and spinal muscular atrophy.

Published in:

Journal of Children's Orthopaedics (British Editorial Society of Bone & Joint Surgery), 2024, v. 18, n. 5, p. 523, doi. 10.1177/18632521241277023

By:

Almeida da Silva, Luiz Carlos;
Hori, Yusuke;
Kaymaz, Burak;
Rogers, Kenneth J;
Trionfo, Arianna;
Bowen, James Richard;
Howard, Jason J;
Shrader, Michael Wade;
Miller, Freeman

Publication type:

Article

Nusinersen therapy changed the natural course of spinal muscular atrophy type 1: What about spine and hip?

Published in:

Journal of Children's Orthopaedics (British Editorial Society of Bone & Joint Surgery), 2024, v. 18, n. 3, p. 322, doi. 10.1177/18632521241235028

By:

Yasar, Niyazi Erdem;
Ozdemir, Guzelali;
Uzun Ata, Elif;
Ayvali, Mustafa Okan;
Ata, Naim;
Ulgu, Mahir;
Dumlupınar, Ebru;
Birinci, Suayip;
Bingol, Izzet;
Bekmez, Senol

Publication type:

Article

The influence of tone on proximal femoral and acetabular geometry in neuromuscular hip displacement: A comparison of cerebral palsy and spinal muscular atrophy.

Published in:

Journal of Children's Orthopaedics (British Editorial Society of Bone & Joint Surgery), 2022, v. 16, n. 2, p. 121, doi. 10.1177/18632521221084184

By:

Ulusaloglu, Armagan Can;
Asma, Ali;
Rogers, Kenneth J.;
Shrader, Michael Wade;
Graham, H. Kerr;
Howard, Jason J.

Publication type:

Article

Új korszak a veleszületett gerincvelõi izomsorvadás terén.

Published in:

Gyermekgyógyászat, 2023, v. 74, n. 3, p. 125

By:

Borbála, Mikos;
Ildikó, Szatmári;
Péter, Monostori;
Judit, Molnár Mária;
Csaba, Bereczki;
Attila, Szabó;
Katalin, Csõsz;
Béla, Muzsik;
János, Velkey György

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

Neuronopathies and Sleep Disorders: Spinal Muscular Atrophy, Amyotrophic Lateral Sclerosis and Post-polio Syndrome.

Published in:

Journal of Turkish Sleep Medicine, 2021, v. 8, n. 2, p. 90, doi. 10.4274/jtsm.galenos.2021.39306

By:

Şenel, Gülçin Benbir

Publication type:

Article

Recombinant Adeno-Associated Virus Serotype 9 Gene Therapy in Spinal Muscular Atrophy.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.726468

By:

Kotulska, Katarzyna;
Fattal-Valevski, Aviva;
Haberlova, Jana

Publication type:

Article

Psychological well-being in adults with spinal muscular atrophy: the contribution of participation and psychological needs.

Published in:

Disability & Rehabilitation, 2020, v. 42, n. 16, p. 2262, doi. 10.1080/09638288.2018.1555864

By:

Fischer, Maarten J.;
Asselman, Fay-Lynn;
Kruitwagen-van Reenen, Esther T.;
Verhoef, Marjolein;
Wadman, Renske I.;
Visser-Meily, Johanna M. A.;
van der Pol, W. Ludo;
Schröder, Carin D.

Publication type:

Article

Telenutrition Support in Rare Diseases May Have Positive Effects: Spinal Muscular Atrophy Type 2 Case Report.

Published in:

Duzce Medical Journal, 2023, v. 25, n. 3, p. 293, doi. 10.18678/dtfd.1324792

By:

MUSLU, Mücahit

Publication type:

Article

'A short time but a lovely little short time': Bereaved parents' experiences of having a child with spinal muscular atrophy type 1.

Published in:

2016

By:

Higgs, Emily J;
McClaren, Belinda J;
Sahhar, Margaret AR;
Ryan, Monique M;
Forbes, Robin

Publication type:

journal article

Experiences of caregivers of children with spinal muscular atrophy participating in the expanded access program for nusinersen: a longitudinal qualitative study.

Published in:

2020

By:

Kiefer, Petra;
Kirschner, Janbernd;
Pechmann, Astrid;
Langer, Thorsten

Publication type:

journal article

Management and current status of spinal muscular atrophy: a retrospective multicentre claims database analysis.

Published in:

2020

By:

Darbà, Josep

Publication type:

journal article

Surgical correction of a ventricular septal defect in a child with spinal muscular atrophy type 2 treated with nusinersen sodium: a case report.

Published in:

2023

By:

Biçer, Mehmet;
Kozan, Şima;
Öztürk, Figen;
Akçay, Ayfer Arduç

Publication type:

Case Study

Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg †.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 9, doi. 10.3390/ijns10010009

By:

Kiselev, Anton;
Maretina, Marianna;
Shtykalova, Sofia;
Al-Hilal, Haya;
Maslyanyuk, Natalia;
Plokhih, Mariya;
Serebryakova, Elena;
Frolova, Marina;
Shved, Natalia;
Krylova, Nadezhda;
Il'ina, Arina;
Freund, Svetlana;
Osinovskaya, Natalia;
Sultanov, Iskender;
Egorova, Anna;
Lobenskaya, Anastasia;
Koroteev, Alexander;
Sosnina, Irina;
Gorelik, Yulia;
Bespalova, Olesya

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

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

Swallowing function in patients with spinal muscular atrophy before and after the introduction of new gene-based therapies: what has changed?

Published in:

Neurological Sciences, 2025, v. 46, n. 3, p. 1137, doi. 10.1007/s10072-024-07883-0

By:

Ruggiero, Marta;
Giannotta, Gabriele;
Pirani, Greta;
Saponaro, Federica;
Oliva, Maria Carmela;
Ferrante, Camilla;
Trabacca, Antonio

Publication type:

Article

Exploring variability in cognitive functioning in patients with spinal muscular atrophy: a scoping review.

Published in:

Neurological Sciences, 2024, v. 45, n. 8, p. 3699, doi. 10.1007/s10072-024-07503-x

By:

Giannotta, Gabriele;
Ruggiero, Marta;
De Rinaldis, Marta;
Trabacca, Antonio

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

Application of urine cells in drug intervention for spinal muscular atrophy.

Published in:

Experimental & Therapeutic Medicine, 2017, v. 14, n. 3, p. 1993, doi. 10.3892/etm.2017.4791

By:

QI-JIE ZHANG;
XIANG LIN;
JIN-JING LI;
YING-QIAN LU;
XIN-XIN GUO;
EN-LIN DONG;
MIAO ZHAO;
JIN HE;
NING WANG;
WAN-JIN CHEN

Publication type:

Article

Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1502444

By:

Bregvadze, Kakha;
Abashishvili, Luka;
Tatishvili, Nana Nino;
Shatirishvili, Teona;
Bedoshvili, Ana;
Chikvinidze, Gocha;
Rolfs, Arndt;
Skrahina, Volha;
Tkemaladze, Tinatin

Publication type:

Article

Case Report: Atypical motor development in a patient with the mosaic form of Down syndrome and spinal muscular atrophy type 2- long-term observation.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1483903

By:

Gajewska, Ewa;
Fliciński, Jędrzej;
Sobieska, Magdalena;
Michalska, Joanna;
Żarowski, Marcin;
Steinborn, Barbara

Publication type:

Article

Plasma neurofilament light chain in Chinese children with later-onset spinal muscular atrophy.

Published in:

Clinical Chemistry & Laboratory Medicine, 2022, v. 60, n. 10, p. e237, doi. 10.1515/cclm-2022-0637

By:

Jin, Jianing;
Wei, Jia;
Feng, Yijie;
Cui, Yiqin;
Zhou, Dongming;
Yao, Mei;
He, Ni;
Mao, Zhifeng;
Gao, Feng;
Mao, Shanshan

Publication type:

Article

Spinal muscular atrophy with open bite: A case report.

Published in:

2013

By:

Zheng Weiying;
Lin Jun

Publication type:

Case Study

Peri‑operative management of children with spinal muscular atrophy.

Published in:

Indian Journal of Anaesthesia, 2020, v. 64, n. 11, p. 13, doi. 10.4103/ija.IJA_312_20

By:

Halanski, Matthew A.;
Steinfeldt, Andrew;
Hanna, Rewais;
Hetzel, Scott;
Schroth, Mary;
Muldowney, Bridget

Publication type:

Article

Inspiratory muscle training in severe spinal muscular atrophy: a case report.

Published in:

International Journal of Therapy & Rehabilitation, 2019, v. 26, n. 4, p. 1, doi. 10.12968/ijtr.2017.0108

By:

Human, Anri;
Honey, Engela;
Morrow, Brenda

Publication type:

Article