Works matching Muscular atrophy

Results: 5000

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

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

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

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

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

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

Clinical research advance of therapeutic strategies for spinal muscular atrophy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2019, v. 19, n. 6, p. 385, doi. 10.3969/j.issn.1672-6731.2019.06.003

By:

LI Jing;
ZHANG Cheng

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

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

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

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

Neuroprotective Effect of Non-viral Gene Therapy Treatment Based on Tetanus Toxin C-fragment in a Severe Mouse Model of Spinal Muscular Atrophy.

Published in:

Frontiers in Molecular Neuroscience, 2016, p. 1, doi. 10.3389/fnmol.2016.00076

By:

Oliván, Sara;
Calvo, Ana C.;
Rando, Amaya;
Herrando-Grabulosa, Mireia;
Manzano, Raquel;
Zaragoza, Pilar;
Tizzano, Eduardo F.;
Aquilera, Jose;
Osta, Rosario

Publication type:

Article

Spinal muscular atrophy type 1 in the Caribbean: the first case report from the Dominican Republic.

Published in:

Frontiers in Neuroscience, 2025, p. 1, doi. 10.3389/fnins.2024.1476977

By:

Martín-Sanz, María Belén;
Lucas-Muñoz, Delvis;
Colomé-Hidalgo, Manuel

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

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

Reorganization of the nuclear compartments involved in transcription and RNA processing in myonuclei of type I spinal muscular atrophy.

Published in:

Histochemistry & Cell Biology, 2019, v. 152, n. 3, p. 227, doi. 10.1007/s00418-019-01792-6

By:

Castillo-Iglesias, María S.;
Berciano, María T.;
Narcis, J. Oriol;
Val-Bernal, J. Fernando;
Rodriguez-Rey, José C.;
Tapia, Olga;
Lafarga, Miguel

Publication type:

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

Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots.

Published in:

Genes, 2021, v. 12, n. 10, p. 1621, doi. 10.3390/genes12101621

By:

Wijaya, Yogik Onky Silvana;
Nishio, Hisahide;
Niba, Emma Tabe Eko;
Okamoto, Kentaro;
Shintaku, Haruo;
Takeshima, Yasuhiro;
Saito, Toshio;
Shinohara, Masakazu;
Awano, Hiroyuki

Publication type:

Article

Longitudinal data collection in pediatric and adult patients with 5q spinal muscular atrophy in Latin America: LATAM RegistrAME study - a clinical registry study protocol.

Published in:

Einstein (16794508), 2024, v. 22, p. 1, doi. 10.31744/einstein_journal/2024AE1133

By:

Carneiro Batista, Elice;
Zanoteli, Edmar;
Monfardini, Frederico;
Prado dos Santos, Gustavo;
Sampaio Silva, Gisele;
Berwanger, Otávio;
Vicente Rizzo, Luiz;
Rodrigues da Fonseca, Henrique Andrade

Publication type:

Article

Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil.

Published in:

Jornal de Pediatria, 2025, v. 101, n. 1, p. 38, doi. 10.1016/j.jped.2024.07.011

By:

Amorim de Albuquerque, Ana Letícia;
Kersting Chadanowicz, Júlia;
Possebon Bevilacqua, Isabela;
Portella Staub, Ana Lucia;
Brea Winckler, Pablo;
Zambone da Silva, Patricia;
Chaves Fagondes, Simone;
Salatti Ferrari, Renata;
de Oliveira Trojahn, Claudia Denise;
Zechlinski Sacharuk, Viviane;
Woycinck Kowalski, Thayne;
Carvalho Donis, Karina;
Michelin Becker, Michele;
Morales Saute, Jonas Alex

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

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

Spinální muskulární atrofie postihující dolní končetiny, dominantně dědičná (SMALED) jako příklad non-5q formy onemocnění.

Published in:

Neurologie Pro Praxi, 2023, v. 24, n. 1, p. 65, doi. 10.36290/neu.2022.051

By:

Hemerková, Pavlína;
Matulová, Hana;
Kunc, Pavel;
Pospíšlová, Lenka;
Jandura, Jiří

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

'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

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

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

Caracterización clínico-funcional de pacientes con atrofia muscular espinal en el centro-occidente colombiano.

Published in:

Biomédica: Revista del Instituto Nacional de Salud, 2022, v. 42, p. 1

By:

Cardona, Natalia;
Ocampo, Sandra Jhoana;
Estrada, Jorge Mario;
Mojica, María Isabel;
Porras, Gloria Liliana

Publication type:

Article

Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 19, p. 14873, doi. 10.3390/ijms241914873

By:

Angilletta, Ilaria;
Ferrante, Rossella;
Giansante, Roberta;
Lombardi, Lucia;
Babore, Alessandra;
Dell'Elice, Anastasia;
Alessandrelli, Elisa;
Notarangelo, Stefania;
Ranaudo, Marianna;
Palmarini, Claudia;
De Laurenzi, Vincenzo;
Stuppia, Liborio;
Rossi, Claudia

Publication type:

Article

Nociceptive pain in adult patients with 5q-spinal muscular atrophy type 3: a cross-sectional clinical study.

Published in:

Journal of Neurology, 2023, v. 270, n. 1, p. 250, doi. 10.1007/s00415-022-11351-0

By:

Sagerer, Elena;
Wirner, Corinna;
Schoser, Benedikt;
Wenninger, Stephan

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

SMN1 and NAIP genes deletions in different types of spinal muscular atrophy in Khuzestan province, Iran.

Published in:

Medical Journal of the Islamic Republic of Iran, 2011, v. 25, n. 4, p. 216

By:

Nezhad, Seyed Reza Kazemi;
Mosavi, Fatemeh;
Galehdari, Ali Akbar Momen Hamid;
Mohamadian, Gholamreza

Publication type:

Article

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

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

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

Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion.

Published in:

Acta Neuropathologica, 2004, v. 107, n. 5, p. 475, doi. 10.1007/s00401-004-0825-3

By:

García-Cabezas, M. A.;
García-Alix, A.;
Martín, Y.;
Gutiérrez, M.;
Hernández, C.;
Rodríguez, J. I.;
Morales, C.

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

Activating ATF6 in spinal muscular atrophy promotes SMN expression and motor neuron survival through the IRE1α‐XBP1 pathway.

Published in:

Neuropathology & Applied Neurobiology, 2022, v. 48, n. 5, p. 1, doi. 10.1111/nan.12816

By:

D'Amico, Domenico;
Biondi, Olivier;
Januel, Camille;
Bezier, Cynthia;
Sapaly, Delphine;
Clerc, Zoé;
El Khoury, Mirella;
Sundaram, Venkat Krishnan;
Houdebine, Léo;
Josse, Thibaut;
Della Gaspera, Bruno;
Martinat, Cécile;
Massaad, Charbel;
Weill, Laure;
Charbonnier, Frédéric

Publication type:

Article

The Experience of Families With Children With Spinal Muscular Atrophy Type I Across Health Care Systems.

Published in:

Journal of Child Neurology, 2017, v. 32, p. 917, doi. 10.1177/0883073817716853

By:

Murrell, Diane V.;
Lotze, Timothy E.;
Farber, Harold J.;
Crawford, Claire A.;
Wiemann, Constance M.

Publication type:

Article

Intrathecal Injections in Children With Spinal Muscular Atrophy.

Published in:

Journal of Child Neurology, 2016, v. 31, n. 7, p. 899, doi. 10.1177/0883073815627882

By:

Haché, Manon;
Swoboda, Kathryn J.;
Sethna, Navil;
Farrow-Gillespie, Alan;
Khandji, Alexander;
Xia, Shuting;
Bishop, Kathie M.

Publication type:

Article

Reliability and Validity of Outcome Measures of In-Hospital and At-Home Visits in a Randomized, Double-Blind, Placebo-Controlled Trial for Spinal Muscular Atrophy.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 12, p. 1680, doi. 10.1177/0883073813506935

By:

Chen, Tai-Heng;
Yang, Yi-Hsin;
Mai, Hui-Hsia;
Liang, Wen-Chen;
Wu, Yi-Ching;
Wang, Hui-Yi;
Jong, Yuh-Jyh

Publication type:

Article

Variations of IGHMBP2 Gene Was Not the Major Cause of Han Chinese Patients With Non-5q-Spinal Muscular Atrophies.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 8, p. NP35, doi. 10.1177/0883073813497827

By:

Lin, Xiang;
Zhang, Qi-Jie;
He, Jin;
Lin, Min-Ting;
Murong, Shen-Xing;
Wang, Ning;
Chen, Wan-Jin

Publication type:

Article

Age at Disease Onset Predicts Likelihood and Rapidity of Growth Failure Among Infants and Young Children With Spinal Muscular Atrophy Types 1 and 2.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 7, p. 845, doi. 10.1177/0883073811415680

By:

Sproule, Douglas M.;
Hasnain, Ridda;
Koenigsberger, Dorcas;
Montgomery, Megan;
De Vivo, Darryl C.;
Kaufmann, Petra

Publication type:

Article

Validation of the Expanded Hammersmith Functional Motor Scale in Spinal Muscular Atrophy Type II and III.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 12, p. 1499, doi. 10.1177/0883073811420294

By:

Glanzman, Allan M.;
O’Hagen, Jessica M.;
McDermott, Michael P.;
Martens, William B.;
Flickinger, Jean;
Riley, Susan;
Quigley, Janet;
Montes, Jacqueline;
Dunaway, Sally;
Deng, Liyong;
Chung, Wendy K.;
Tawil, Rabi;
Darras, Basil T.;
De Vivo, Darryl C.;
Kaufmann, Petra;
Finkel, Richard S.

Publication type:

Article

Infantile Spinal Muscular Atrophy With Respiratory Distress Type 1: A Case Report.

Published in:

2010

By:

AlSaman, Abdulaziz;
Tomoum, Hoda

Publication type:

Case Study

Clinical Outcome Measures in Spinal Muscular Atrophy.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 8, p. 968, doi. 10.1177/0883073809332702

By:

Montes, Jacqueline;
Gordon, Andrew M.;
Pandya, Shree;
De Vivo, Darryl C.;
Kaufmann, Petra

Publication type:

Article

Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1).

Published in:

Journal of Child Neurology, 2008, v. 23, n. 2, p. 199, doi. 10.1177/0883073807310989

By:

Kaindi, Angela M.;
Guenther, Ulf-Peter;
Rudnik-Schöneborn, Sabine;
Varon, Raymonda;
Zerres, Klaus;
Schuelke, Markus;
Hübner, Christoph;
von Au, Katja

Publication type:

Article

Consensus Statement for Standard of Care in Spinal Muscular Atrophy.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 8, p. 1027, doi. 10.1177/0883073807305788

By:

Wang, Ching H.;
Finkel, Richard S.;
Bertini, Enrico S.;
Schroth, Mary;
Simonds, Anita;
Wong, Brenda;
Aloysius, Annie;
Morrison, Leslie;
Main, Marion;
Crawford, Thomas O.;
Trela, Anthony

Publication type:

Article

Spinal Muscular Atrophy Genetic Counseling Access and Genetic Knowledge: Parents' Perspectives.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 8, p. 1019, doi. 10.1177/0883073807305672

By:

Meldrum, Candice;
Scott, Charles;
Swoboda, Kathryn J.

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