Works matching DE "BECKER muscular dystrophy"

Results: 434

Interleukin-17B is a new biomarker of human muscle regeneration in dystrophinopathies.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 7, p. 2579, doi. 10.1093/brain/awaf058

By:

Liu, Chang;
Xie, Zhihao;
Yuan, Qingyue;
Lu, Yanyu;
Deng, Jianwen;
Wang, Zhaoxia;
Meng, Lingchao;
Yuan, Yun;
Xie, Zhiying

Publication type:

Article

Application of long-read sequencing in the diagnosis of Duchenne/Becker muscular dystrophy: unveiling complex structural variations and deep intronic mutations.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02053-0

By:

Chu, Yixuan;
Zhang, Ciliu;
Pan, Zou;
Peng, Jing

Publication type:

Article

A multi-sensor approach to improve interpretability of the 6-min walk test as an outcome in muscular dystrophies: an observational study Open Access.

Published in:

Brain Communications, 2025, v. 7, n. 3, p. 1, doi. 10.1093/braincomms/fcaf205

By:

Sheikh, Aisha;
Claramunt-Molet, Mireia;
Rudolf, Karen;
Migliorelli, Carolina;
Idelsohn-Zielonka, Sebastian;
Miralles, Felip;
Vissing, John

Publication type:

Article

Cardiac considerations in the operative management of the patient with Duchenne or Becker muscular dystrophy.

Published in:

Pediatric Anesthesia, 2013, v. 23, n. 9, p. 777, doi. 10.1111/pan.12229

By:

Cripe, Linda H.;
Tobias, Joseph D.

Publication type:

Article

Anesthesia and Duchenne or Becker muscular dystrophy: review of 117 anesthetic exposures.

Published in:

Pediatric Anesthesia, 2013, v. 23, n. 9, p. 855, doi. 10.1111/pan.12248

By:

Segura, Leal G.;
Lorenz, Jessica D.;
Weingarten, Toby N.;
Scavonetto, Federica;
Bojanić, Katarina;
Selcen, Duygu;
Sprung, Juraj

Publication type:

Article

Prenatal diagnosis of Duchenne and Becker muscular dystrophies: Underestimated problem of the secondary prevention of monogenetic disorders.

Published in:

Journal of Obstetrics & Gynaecology Research, 2017, v. 43, n. 7, p. 1111, doi. 10.1111/jog.13344

By:

Massalska, Diana;
Zimowski, Janusz Grzegorz;
Roszkowski, Tomasz;
Bijok, Julia;
Pawelec, Magdalena;
Bednarska ‐ Makaruk, Małgorzata

Publication type:

Article

On genotype-phenotype relationship of dystrophinopathies among Iranian population.

Published in:

Current Journal of Neurology, 2023, v. 22, n. 4, p. 231, doi. 10.18502/cjn.v22i4.14528

By:

Basiri, Keivan;
Alizadeh, Maryam;
Ansari, Behnaz;
Ghasemi, Majid;
Kheradmand, Mohsen;
Sedghi, Maryam

Publication type:

Article

Assessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents.

Published in:

Journal of Clinical Medicine, 2021, v. 10, n. 20, p. 4777, doi. 10.3390/jcm10204777

By:

D'Alessandro, Rossella;
Ragusa, Neftj;
Vacchetti, Martina;
Rolle, Enrica;
Rossi, Francesca;
Brusa, Chiara;
Davico, Chiara;
Vitiello, Benedetto;
Mongini, Tiziana;
Ricci, Federica S.

Publication type:

Article

Abnormal Head Size in Children and Adolescents with Congenital Nervous System Disorders or Neurological Syndromes with One or More Neurodysfunction Visible since Infancy.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 11, p. 3739, doi. 10.3390/jcm9113739

By:

Perenc, Lidia;
Guzik, Agnieszka;
Podgórska-Bednarz, Justyna;
Drużbicki, Mariusz

Publication type:

Article

The Role of Cardiovascular Imaging in the Evaluation of Rheumatic and Neuromuscular Disorders.

Published in:

2020

By:

Mavrogeni, Sophie I.

Publication type:

Editorial

Metabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular Dystrophies.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 12, p. 2151, doi. 10.3390/jcm8122151

By:

Esposito, Gabriella;
Carsana, Antonella

Publication type:

Article

Successful Orthotopic Heart Transplantation in Patients with Becker Muscular Dystrophy.

Published in:

Journal of Pediatric Research, 2021, v. 8, n. 1, p. 98, doi. 10.4274/jpr.galenos.2020.88609

By:

Aydın, Derya;
Doğan, Eser;
Ülger, Zülal;
Levent, Ertürk

Publication type:

Article

Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting.

Published in:

European Journal of Medical Research, 2024, v. 29, n. 1, p. 1, doi. 10.1186/s40001-023-01600-x

By:

Wijekoon, Nalaka;
Gonawala, Lakmal;
Ratnayake, Pyara;
Liyanage, Roshan;
Amaratunga, Dhammika;
Hathout, Yetrib;
Steinbusch, Harry W. M.;
Dalal, Ashwin;
Hoffman, Eric P.;
de Silva, K. Ranil D.

Publication type:

Article

How Important are Cardiac Electrical Abnormalities in Duchenne and Becker Muscular Dystrophy?

Published in:

Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2022, v. 75, n. 4, p. 562, doi. 10.4274/atfm.galenos.2022.62533

By:

Tunçer, Gökçen Öz;
Şahin, İrfan Oğuz;
Akça, Ünal;
Aksoy, Ayşe

Publication type:

Article

Role of Ayurveda in the Management of Becker Muscular Dystrophy: A Case Study.

Published in:

Ancient Science of Life, 2024, v. 38, n. 3/4, p. 173, doi. 10.4103/asl.asl_49_21

By:

Bohra, Mohita

Publication type:

Article

Intragenic dystrophin (DMD) duplication variant in Entlebucher Mountain Dogs with Duchenne muscular dystrophy.

Published in:

Animal Genetics, 2024, v. 55, n. 6, p. 849, doi. 10.1111/age.13475

By:

Schwarz, Cleo;
Jagannathan, Vidhya;
Schelling, Claude;
Leeb, Tosso

Publication type:

Article

Novel Intronic Mutations Introduce Pseudoexons in DMD That Cause Muscular Dystrophy in Patients.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.657040

By:

Lu, Xinguo;
Han, Chunxi;
Mai, Jiahui;
Jiang, Xianping;
Liao, Jianxiang;
Hou, Yanqi;
Cui, Di

Publication type:

Article

Cardiomyopathies and Arrythmias in Neuromuscular Diseases.

Published in:

Cardiogenetics, 2025, v. 15, n. 1, p. 7, doi. 10.3390/cardiogenetics15010007

By:

Sgarito, Giuseppe;
Volpe, Calogero;
Bardari, Stefano;
Calvanese, Raimondo;
China, Paolo;
Mascioli, Giosuè;
Nesti, Martina;
Pignalberi, Carlo;
Cipriani, Manlio;
Zecchin, Massimo

Publication type:

Article

Muscular dystrophies: key elements for everyday diagnosis and management.

Published in:

Cardiogenetics, 2013, v. 3, n. 1, p. 49, doi. 10.4081/cardiogenetics.2013.e9

By:

Palladino, Alberto;
Nigro, Gerardo;
Politano, Luisa

Publication type:

Article

Peak Cough Flow in Children with Neuromuscular Disorders.

Published in:

Lung (0341-2040), 2020, v. 198, n. 2, p. 371, doi. 10.1007/s00408-020-00340-7

By:

Kotwal, Nidhi;
Shukla, Prateek J.;
Perez, Geovanny F.

Publication type:

Article

Combining Protein Expression and Molecular Data Improves Mutation Characterization of Dystrophinopathies.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.718396

By:

Gaina, Gisela;
Vossen, Rolf H. A. M.;
Manole, Emilia;
Plesca, Doina Anca;
Ionica, Elena

Publication type:

Article

Comparison of Carrier and de novo Pathogenic Variants in a Chinese DMD/BMD Cohort.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.714677

By:

Lin, Jinfu;
Li, Huan;
Liao, Ziyu;
Wang, Liang;
Zhang, Cheng

Publication type:

Article

Patients With Becker Muscular Dystrophy Have Severe Paraspinal Muscle Involvement.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.613483

By:

Sheikh, Aisha M.;
Rudolf, Karen;
de Stricker Borch, Josefine;
Khawajazada, Tahmina;
Witting, Nanna;
Vissing, John

Publication type:

Article

Orthodontic treatment in a patient with unilateral open-bite and Becker muscular dystrophy. A 5-year follow-up.

Published in:

2014

By:

Aristizabal, Juan Fernando;
Martínez Smit, Rosana

Publication type:

Case Study

Application of the International Classification of Functioning, Disability and Health system to symptoms of the Duchenne and Becker muscular dystrophies.

Published in:

Disability & Rehabilitation, 2018, v. 40, n. 15, p. 1773, doi. 10.1080/09638288.2017.1312567

By:

Conway, Kristin M.;
Ciafaloni, Emma;
Matthews, Dennis;
Westfield, Chris;
James, Kathy;
Paramsothy, Pangaja;
Romitti, Paul A.

Publication type:

Article

A comparison of swallowing dysfunction in Becker muscular dystrophy and Duchenne muscular dystrophy.

Published in:

Disability & Rehabilitation, 2018, v. 40, n. 12, p. 1421, doi. 10.1080/09638288.2017.1298680

By:

Yamada, Yuka;
Kawakami, Michiyuki;
Wada, Ayako;
Otsuka, Tomoyoshi;
Muraoka, Kaori;
Liu, Meigen

Publication type:

Article

Pérdida de heterocigocidad e identificación de portadoras de distrofia muscular de Duchenne: un caso familiar con evento de recombinación.

Published in:

Revista Ciencias de la Salud, 2012, v. 10, n. 1, p. 83

By:

Fonseca Mendoza, Dora Janeth;
Arbeláez, Heidi Mateus;
Silva Aldana, Claudia Tamar

Publication type:

Article

Análisis de deleciones en 15 exones situados dentro y fuera del hot spot mutacional del gen de la distrofina en pacientes con distrofia muscular de Duchenne.

Published in:

Revista Ciencias de la Salud, 2009, v. 7, n. 2, p. 15

By:

Fonseca, Dora Janeth;
Mateus, Heidi Eliana;
Contreras, Nora Constanza;
Sánchez, Rossana;
Herrera, Tristana;
Sirva, Claudia Tamar

Publication type:

Article

ANALYSIS OF MUSCLE CALPAIN-3 IN LGMD 2A.

Published in:

Studia Universitatis Vasile Goldis Seria Stiintele Vietii (Life Sciences Series), 2008, v. 18, p. 181

By:

Gaina, Gisela;
Manole, Emilia;
Bordea, Cristina;
Ionica, Elena

Publication type:

Article

Enhancing human aspects of care with young people with muscular dystrophy: An evaluation of a participatory qualitative study with clinicians.

Published in:

PLoS ONE, 2022, v. 18, n. 2, p. 1, doi. 10.1371/journal.pone.0263956

By:

Setchell, Jenny;
Mosleh, Donya;
McAdam, Laura;
Thille, Patricia;
Abrams, Thomas;
McMillan, Hugh J.;
Mistry, Bhavnita;
Gibson, Barbara E.

Publication type:

Article

Serial case report: Becker's muscular dystrophy phenotype with dilated cardiomyopathy in patients with out-of-frame deletion involving exons 38-43 of DMD gene.

Published in:

Neurology Asia, 2021, v. 26, n. 1, p. 153

By:

Rahmawati, Putu Lohita;
Sri Wijayanti, Ida Ayu;
Arimbawa, I. Komang;
Purwata, Thomas Eko;
Putra, IGN Purna;
Juli Sumadi, I. Wayan;
Wiratnaya, Gede Eka;
Putra Swi Antara, I. Made;
Dwianingsih, Ery Kus

Publication type:

Article

Exercise induced cramps and myoglobinuria in dystrophinopathy -- a report of three Malaysian patients.

Published in:

Neurology Asia, 2010, v. 15, p. 125

By:

Annuar, Azlina Ahmad;
Kum Thong Wong;
Ai Sze Ching;
Meow Keong Thong;
Sau Wei Wong;
Alsiddiq, Feizel;
Lai Choo Ong;
Khean Jin Goh

Publication type:

Article

Dystrophin gene analysis in Duchenne/Becker dystrophy in a Malaysian population using multiplex polymerase chain reaction.

Published in:

Neurology Asia, 2010, v. 15, n. 1, p. 19

By:

Tan, Jin-Ai Mary Anne;
Chan, James Hsian-Meng;
Kim-Lian Tan;
Annuar, Azlina Ahmad;
Moon-Keen Lee;
Khean-Jin Goh;
Kum-Thong Wong

Publication type:

Article

Improved Detection of Deletions and Duplications in the DMD Gene Using the Multiplex Ligation-Dependent Probe Amplification (MLPA) Method.

Published in:

Biochemical Genetics, 2013, v. 51, n. 3/4, p. 189, doi. 10.1007/s10528-012-9554-9

By:

Sansović, Ivona;
Barišić, Ingeborg;
Dumić, Katja

Publication type:

Article

Prednisone Therapy in Becker's Muscular Dystrophy.

Published in:

Journal of Child Neurology, 2001, v. 16, n. 11, p. 870, doi. 10.1177/08830738010160111406

By:

Johnsen, Stanley D.

Publication type:

Article

Becker Muscular Dystrophy Presenting As Eosinophilic Inflammatory Myopathy in an Infant.

Published in:

Journal of Child Neurology, 1997, v. 12, n. 2, p. 146

By:

Weinstock, Arie;
Green, Carolyn;
Cohen, Bruce H.;
Prayson, Richard A.

Publication type:

Article

Instruments for the Assessment of Behavioral and Psychosocial Functioning in Duchenne and Becker Muscular Dystrophy; a Systematic Review of the Literature.

Published in:

2019

By:

Hellebrekers, Danique M J;
Lionarons, Judith M;
Faber, Catharina G;
Klinkenberg, Sylvia;
Vles, Johan S H;
Hendriksen, Jos G M

Publication type:

journal article

Cardiovascular progenitor cells and tissue plasticity are reduced in a myocardium affected by Becker muscular dystrophy.

Published in:

2020

By:

Pesl, Martin;
Jelinkova, Sarka;
Caluori, Guido;
Holicka, Maria;
Krejci, Jan;
Nemec, Petr;
Kohutova, Aneta;
Zampachova, Vita;
Dvorak, Petr;
Rotrekl, Vladimir

Publication type:

journal article

De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany.

Published in:

2019

By:

König, Kirsten;
Pechmann, Astrid;
Thiele, Simone;
Walter, Maggie C.;
Schorling, David;
Tassoni, Adrian;
Lochmüller, Hanns;
Müller-Reible, Clemens;
Kirschner, Janbernd

Publication type:

journal article

Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis.

Published in:

Journal of Orthopaedic Surgery & Research, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13018-022-02996-8

By:

Salari, Nader;
Fatahi, Behnaz;
Valipour, Elahe;
Kazeminia, Mohsen;
Fatahian, Reza;
Kiaei, Aliakbar;
Shohaimi, Shamarina;
Mohammadi, Masoud

Publication type:

Article

Evolution of Gastric Electrical Features and Gastric Emptying in Children with Duchenne and Becker Muscular Dystrophy.

Published in:

American Journal of Gastroenterology (Springer Nature), 2005, v. 100, n. 3, p. 695, doi. 10.1111/j.1572-0241.2005.41303.x

By:

Borrelli, Osvaldo;
Salvia, Gennaro;
Mancini, Valentina;
Santoro, Lucio;
Tagliente, Francesca;
Romeo, Erminia Francesca;
Cucchiara, Salvatore

Publication type:

Article

Communication as a human right for children with profound intellectual disabilities.

Published in:

Developmental Medicine & Child Neurology, 2023, v. 65, n. 6, p. 725, doi. 10.1111/dmcn.15564

By:

Goldbart, Juliet

Publication type:

Article

Global prevalence of intellectual developmental disorder in dystrophinopathies: A systematic review and meta‐analysis.

Published in:

Developmental Medicine & Child Neurology, 2023, v. 65, n. 6, p. 734, doi. 10.1111/dmcn.15481

By:

Pascual‐Morena, Carlos;
Cavero‐Redondo, Iván;
Álvarez‐Bueno, Celia;
Jiménez‐López, Estela;
Saz‐Lara, Alicia;
Martínez‐García, Irene;
Martínez‐Vizcaíno, Vicente

Publication type:

Article

Instruments to assess upper‐limb function in children and adolescents with neuromuscular diseases: a systematic review.

Published in:

Developmental Medicine & Child Neurology, 2021, v. 63, n. 9, p. 1030, doi. 10.1111/dmcn.14887

By:

Davoli, Gabriela Barroso De Queiroz;
Cardoso, Juliana;
Silva, Giovanna Constantin;
Moreira, Roberta de Fátima Carreira;
Mattiello‐Sverzut, Ana Claudia

Publication type:

Article

What is the effect of assistive devices for standing in the rehabilitation of patients with Duchenne muscular dystrophy? A Cochrane Review summary with commentary.

Published in:

Developmental Medicine & Child Neurology, 2020, v. 62, n. 12, p. 1350, doi. 10.1111/dmcn.14699

By:

Arman, Sina

Publication type:

Article

What are the effects of treatments used to prevent or treat heart complications in Duchenne muscular dystrophy, Becker muscular dystrophy, and X-linked dilated cardiomyopathy? A Cochrane Review summary with commentary.

Published in:

2020

By:

Patrick Engkasan, Julia;
Chan, Soo Chin

Publication type:

journal article

Social and emotional alterations in mice lacking the short dystrophin-gene product, Dp71.

Published in:

Behavioral & Brain Functions, 2024, v. 20, n. 1, p. 1, doi. 10.1186/s12993-024-00246-x

By:

Miranda, Rubén;
Ceschi, Léa;
Le Verger, Delphine;
Nagapin, Flora;
Edeline, Jean-Marc;
Chaussenot, Rémi;
Vaillend, Cyrille

Publication type:

Article

Perceived quality of life among caregivers of children with a childhood-onset dystrophinopathy: a double ABCX model of caregiver stressors and perceived resources.

Published in:

2017

By:

Frishman, Natalia;
Conway, Kristin Caspers;
Andrews, Jennifer;
Oleson, Jacob;
Mathews, Katherine;
Ciafaloni, Emma;
Oleszek, Joyce;
Lamb, Molly;
Matthews, Dennis;
Paramsothy, Pangaja;
McKirgan, Lowell;
Romitti, Paul

Publication type:

journal article

iNOS is not responsible for RyR1 S-nitrosylation in mdx mice with truncated dystrophin.

Published in:

2020

By:

Nogami, Ken'ichiro;
Maruyama, Yusuke;
Elhussieny, Ahmed;
Sakai-Takemura, Fusako;
Tanihata, Jun;
Kira, Jun-ichi;
Miyagoe-Suzuki, Yuko;
Takeda, Shin'ichi

Publication type:

journal article

Cardiovascular Surveillance of Duchenne and Becker Muscular Dystrophy and Female Carriers.

Published in:

Current Pediatric Reviews, 2008, v. 4, n. 3, p. 159, doi. 10.2174/157339608785856027

By:

Spehrs-Ciaffi, Virginia;
Jeannet, Pierre-Yves;
Sekarski, Nicole

Publication type:

Article