Works matching Spinal muscular atrophy

Results: 3866

Evaluation of Mean Percentage of Full-Length SMN Transcripts as a Molecular Biomarker of Spinal Muscular Atrophy.

Published in:

Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101911

By:

Maretina, Marianna;
Egorova, Anna;
Lanko, Kristina;
Baranov, Vladislav;
Kiselev, Anton

Publication type:

Article

Doświadczenia polskich ośrodków zajmujących się leczeniem pacjentów z rdzeniowym zanikiem mięśni.

Published in:

Child Neurology / Neurologia Dziecięca, 2021, v. 31/32, n. 60, p. 11, doi. 10.20966/chn.2021-2022.60.483

By:

Ogrodnik, Magdalena;
Chmielewski, Dariusz;
Szwinge, Anna;
Mazurkiewicz-Bełdzińska, Maria;
Kostera-Pruszczyk, Anna;
Giza, Wojciech;
Szymańska, Małgorzata;
Kierkus-Dłużyńska, Karina;
Łusakowska, Anna;
Wójcik, Adrianna;
Frączek, Anna;
Czyżyk, Elżbieta;
Michalska, Joanna;
Chrościńska-Krawczyk, Magdalena;
Pilch, Jacek;
Kotulska-Jóźwiak, Katarzyna

Publication type:

Article

脊髓性肌萎缩症治疗药物研究进展.

Published in:

Journal of Shenyang Pharmaceutical University, 2024, v. 41, n. 5, p. 632, doi. 10.14066/j.cnki.cn21-1349/r.2023.0076

By:

张丁;
于博;
王旭;
田晓瑜;
王巧

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

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

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

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

Published in:

2010

By:

AlSaman, Abdulaziz;
Tomoum, Hoda

Publication type:

Case Study

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

ATROFIA ESPINHAL DO TIPO I: REVISÃO DAS PRINCIPAIS ABORDAGENS DA FISIOTERAPIA RESPIRATÓRIA.

Published in:

Revista Inspirar Movimento & Saude, 2015, v. 7, n. 3, p. 15

By:

Silva Miranda, Bruno;
Borges, Daniel Lago;
dos Santos Martins, Lana

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

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

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

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

Synaptic defects in type I spinal muscular atrophy in human development Synaptic defects in type I spinal muscular atrophy in human development†.

Published in:

Journal of Pathology, 2013, v. 229, n. 1, p. 49, doi. 10.1002/path.4080

By:

Martínez ‐ Hernández, Rebeca;
Bernal, Sara;
Also ‐ Rallo, Eva;
Alías, Laura;
Barceló, MaJesús;
Hereu, Marta;
Esquerda, Josep E;
Tizzano, Eduardo F

Publication type:

Article

Hodnotící škály a testy pro dětské pacienty se spinální muskulární atrofií.

Published in:

Česká a Slovenská Neurologie a Neurochirurgie, 2020, v. 83, p. 2S24, doi. 10.48095/cccsnn2S24

By:

Švábová, I.;
Válková, J.;
Haberlová, J.

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

ТЕРАПЕВТИЧНА ЕФИКАСНОСТ И ЕФЕКТИВНОСТ НА РАЗХОДИТЕ НА ГЕННОЗАМЕСТИТЕЛНА ТЕРАПИЯ ЗА ЛЕЧЕНИЕ НА ПАЦИЕНТИ СЪС СПИНАЛНА МУСКУЛНА АТРОФИЯ ТИП 1

Published in:

Neurology & Psychiatry, 2020, v. 51, n. 2, p. 3

By:

Веков, Т.;
Велева, Н.;
Драганова, М.

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

Spinální svalové atrofie v dětském věku – aktuální stav léčby.

Published in:

Neurologie Pro Praxi, 2022, v. 23, n. 1, p. 9

By:

Haberlová, Jana;
Hedvičáková, Petra;
Fuchsová, Petra;
Jílková, Markéta;
Holubová, Lucie;
Doušová, Tereza

Publication type:

Article

Spinálna muskulárna atrofia - prvé skúsenosti s liečbou nusinersenom na Slovensku.

Published in:

Neurologie Pro Praxi, 2021, v. 22, n. 2, p. 114

By:

Kolníková, Miriam;
Viestová, Karin;
Balážová, Patrícia;
Okáľová, Katarína;
Trúsiková, Eva;
Lazarová, Eva;
Čižmár, Jaroslav

Publication type:

Article

Psychopathology and familial stress - comparison of boys with Fragile X syndrome and Spinal Muscular Atrophy.

Published in:

Journal of Child Psychology & Psychiatry, 2002, v. 43, n. 7, p. 949, doi. 10.1111/1469-7610.00098

By:

Von Gontard, A.;
Backes, M.;
Laufersweiler‐Plass, C.;
Wendland, C.;
Lehmkuhl, G.;
Zerres, K.;
Rudnik‐Schöneborn, S.

Publication type:

Article

Spinal muscular atrophy type 1: A fatal case in a 1‐year‐old girl with delayed diagnosis.

Published in:

2024

By:

Rizvi, Saira Batool;
Ahmed, Hafsa;
Zaman, Arbaz;
Ali, Ameenudeen Mohammed Nushrath;
Shah, Hussain Haider;
Rauf, Sameer Abdul;
Dave, Tirth

Publication type:

Case Study

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

诺西那生钠治疗脊髓性肌萎缩症的实验室指标变化及安全性分析.

Published in:

Journal of Xi'an Jiaotong University (Medical Sciences), 2023, v. 44, n. 6, p. 944, doi. 10.7652/jdyxb202306016

By:

陈宇;
张鑫;
张红梅;
张璐;
范特

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

Early Treatment in Preterm Twins With Spinal Muscular Atrophy.

Published in:

Journal of Child Neurology, 2025, v. 40, n. 5, p. 371, doi. 10.1177/08830738251322224

By:

Bistritzer, Jacob;
Avital, Dekel;
Golan-Tripto, Inbal;
Abramsky, Ramy;
Noyman, Iris

Publication type:

Article

A Prospective, Crossover Survey Study of Child- and Proxy-Reported Quality of Life According to Spinal Muscular Atrophy Type and Medical Interventions.

Published in:

Journal of Child Neurology, 2020, v. 35, n. 5, p. 322, doi. 10.1177/0883073819900463

By:

Weaver, Meaghann S.;
Hanna, Rewais;
Hetzel, Scott;
Patterson, Karen;
Yuroff, Alice;
Sund, Sarah;
Schultz, Meredith;
Schroth, Mary;
Halanski, Matthew A.

Publication type:

Article

False Negative Carrier Screening in Spinal Muscular Atrophy.

Published in:

Journal of Child Neurology, 2020, v. 35, n. 4, p. 274, doi. 10.1177/0883073819891269

By:

Butcher, Sophie;
Smith, Melanie;
Woodcock, Ian R.;
Delatycki, Martin;
Ryan, Monique M.;
Forbes, Robin

Publication type:

Article

Bereaved Parents More Satisfied With the Care Given to Their Child With Severe Spinal Muscular Atrophy Than Nonbereaved.

Published in:

Journal of Child Neurology, 2019, v. 34, n. 2, p. 104, doi. 10.1177/0883073818811544

By:

Hjorth, Elin;
Kreicbergs, Ulrika;
Sejersen, Thomas;
Jeppesen, Jørgen;
Werlauff, Ulla;
Rahbek, Jes;
Lövgren, Malin

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

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

Detection of Intragenic SMN1 Mutations in Spinal Muscular Atrophy Patients With a Single Copy of SMN1.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 5, p. 558, doi. 10.1177/0883073814521297

By:

Ganji, Hamid;
Nouri, Nayereh;
Salehi, Mansoor;
Aryani, Omid;
Houshmand, Massoud;
Basiri, Keivan;
Fazel-Najafabadi, Esmat;
Sedghi, Maryam

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

The Natural History of Infant Spinal Muscular Atrophy in China: A Study of 237 Patients.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 4, p. 471, doi. 10.1177/0883073811420152

By:

Ge, Xiushan;
Bai, Jinli;
Lu, Yanyu;
Qu, Yujin;
Song, Fang

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

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