Works matching Spinal muscular atrophy

Results: 4510

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

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

"...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

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

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

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

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

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

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

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

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

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

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

Case Report: A case of spinal muscular atrophy with extensively drug-resistant Acinetobacter baumannii pneumonia treated with nebulization combined with intravenous polymyxin B: experience and a literature review.

Published in:

Frontiers in Cellular & Infection Microbiology, 2023, p. 01, doi. 10.3389/fcimb.2023.1163341

By:

Bingqing Cao;
Ling Cao

Publication type:

Article

New therapies for spinal muscular atrophy: where we stand and what is next.

Published in:

European Journal of Pediatrics, 2023, v. 182, n. 7, p. 2935, doi. 10.1007/s00431-023-04883-8

By:

Antonaci, Laura;
Pera, Maria Carmela;
Mercuri, Eugenio

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

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

'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

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

Neuroblastoma in a Patient With Spinal Muscular Atrophy Type I: Is It Just a Coincidence?

Published in:

Journal of Child Neurology, 2015, v. 30, n. 8, p. 1075, doi. 10.1177/0883073814542950

By:

Sag, Erdal;
Sen, Hilal Susam;
Haliloglu, Goknur;
Yalcin, Bilgehan;
Kutluk, Tezer

Publication type:

Article

Congenital Segmental Spinal Muscular Atrophy: A Case Report.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 4, p. 509, doi. 10.1177/0883073814550497

By:

Savaş, Tülin;
Erol, Ilknur;
Özkale, Yasemin;
Saygi, Semra

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

Nutritional Practices at a Glance: Spinal Muscular Atrophy Type I Nutrition Survey Findings.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 11, p. 1467, doi. 10.1177/0883073813503988

By:

Davis, Rebecca Hurst;
Godshall, Barbara J.;
Seffrood, Erin;
Marcus, Mary;
Schroth, Mary K.;
LaSalle, Bernard A;
Wong, Brenda;
Swoboda, Kathryn J.

Publication type:

Article

One Novel and One Recurrent Mutation in IGHMBP2 Gene, Causing Severe Spinal Muscular Atrophy Respiratory Distress 1 With Onset Soon After Birth.

Published in:

2014

By:

Litvinenko, Ivan;
Kirov, Andrey Ventsislavov;
Georgieva, Ralitsa;
Todorov, Tihomir;
Malinova, Zornitsa;
Mitev, Vanyo;
Todorova, Albena

Publication type:

Case Study

Vitamin D Intake Is Inadequate in Spinal Muscular Atrophy Type I Cohort: Correlations With Bone Health.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 3, p. 374, doi. 10.1177/0883073812471857

By:

Aton, Jennifer;
Davis, Rebecca Hurst;
Jordan, Kristine C.;
Scott, Charles B.;
Swoboda, Kathryn J.

Publication type:

Article

Diabetic Ketoacidosis in an Adult Patient With Spinal Muscular Atrophy Type II: Further Evidence of Extraneural Pathology Due to Survival Motor Neuron 1 Mutation?

Published in:

2013

By:

LaMarca, Nicole Holuba;
Golden, Lauren;
John, Rita Marie;
Naini, Ali;
Vivo, Darryl C. De;
Sproule, Douglas M.

Publication type:

Case Study

Independent Mobility After Early Introduction of a Power Wheelchair in Spinal Muscular Atrophy.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 5, p. 576, doi. 10.1177/0883073812449383

By:

Dunaway, Sally;
Montes, Jacqueline;
O’Hagen, Jessica;
Sproule, Douglas M.;
Vivo, Darryl C. De;
Kaufmann, Petra

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

Spinal Muscular Atrophy Type III: Trying to Understand Subtle Functional Change Over Time—A Case Report.

Published in:

2012

By:

Dunaway, Sally;
Montes, Jacqueline;
Ryan, Patricia A.;
Montgomery, Megan;
Sproule, Douglas M.;
Vivo, Darryl C. De

Publication type:

Case Study

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

Impaired Mandibular Function in Spinal Muscular Atrophy Type II: Need for Early Recognition.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 11, p. 1392, doi. 10.1177/0883073811407696

By:

van Bruggen, H. Willemijn;
van den Engel-Hoek, Lenie;
van der Pol, W. Ludo;
de Wijer, Anton;
de Groot, Imelda J. M.;
Steenks, Michel H.

Publication type:

Article

Oral Administration of the Thyrotropin-Releasing Hormone (TRH) Analogue, Taltireline Hydrate, in Spinal Muscular Atrophy.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 8, p. 1010, doi. 10.1177/0883073809333535

By:

Kato, Zenichiro;
Okuda, Miho;
Okumura, Yu;
Arai, Takahiro;
Teramoto, Takahide;
Nishimura, Masaaki;
Kaneko, Hideo;
Kondo, Naomi

Publication type:

Article

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

Is Head Balance a Major Determinant for Swallowing Problems in Patients With Spinal Muscular Atrophy Type 2?

Published in:

Journal of Child Neurology, 2008, v. 23, n. 8, p. 919, doi. 10.1177/0883073808315418

By:

van den Engel-Hoek, Lenie;
de Swart, Bert J. M.;
Erasmus, Corrie E.;
de Groot, Imelda J. M.

Publication type:

Article

A Newborn With Spinal Muscular Atrophy Type O Presenting With a Clinicopathological Picture Suggestive of Myotubular Myopathy.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 11, p. 1301, doi. 10.1177/0883073807307105

By:

Nadeau, Amelie;
D'Anjou, Guy;
Debray, Guillaume;
Robitaille, Yves;
Simard, Louise R.;
Vanasse, Michel

Publication type:

Article

Clinical and Genetic Study of Spinal Muscular Atrophies in Oman.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 10, p. 1227, doi. 10.1177/0883073807306268

By:

Koul, Roshan;
Futaisi, Amna Al;
Chacko, Alexander;
Rao, Vasudev;
Simsek, Mehmet;
Muralitharan, Shanmugakonar;
Ganguly, Shyarn S.;
Bayourni, Riad

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

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

Animal Models of Spinal Muscular Atrophy.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 8, p. 1004, doi. 10.1177/0883073807305667

By:

Schmid, Aloicia;
DiDonato, Christine J.

Publication type:

Article

Fishing for a Mechanism: Using Zebrafish to Understand Spinal Muscular Atrophy.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 8, p. 995, doi. 10.1177/0883073807305671

By:

Beattie, Christine E.;
Carrel, Tessa L.;
McWhorter, Michelle L.

Publication type:

Article

Molecular Mechanisms of Spinal Muscular Atrophy.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 8, p. 979, doi. 10.1177/0883073807305787

By:

Sumner, Charlotte J.

Publication type:

Article