Works matching Muscular dystrophy

Results: 5000

磁共振成像在肌营养不良疾病诊断中的应用价值.

Published in:

Chinese Journal of Contemporary Pediatrics, 2022, v. 24, n. 11, p. 1231, doi. 10.7499/j.issn.1008-8830.2206052

By:

唐静;
张家鹏;
杨学军;
钟京梓;
谢彦舒;
孟琦;
蓝丹

Publication type:

Article

Pletencové svalové dystrofie.

Published in:

Česká a Slovenská Neurologie a Neurochirurgie, 2022, v. 85, n. 6, p. 435, doi. 10.48095/cccsnn2022435

By:

Mensová, L.;
Baumgartner, D.;
Potočková, V.;
Mazanec, R.

Publication type:

Article

Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients.

Published in:

Journal of Cachexia, Sarcopenia & Muscle, 2020, v. 11, n. 2, p. 547, doi. 10.1002/jcsm.12527

By:

Capitanio, Daniele;
Moriggi, Manuela;
Torretta, Enrica;
Barbacini, Pietro;
De Palma, Sara;
Viganò, Agnese;
Lochmüller, Hanns;
Muntoni, Francesco;
Ferlini, Alessandra;
Mora, Marina;
Gelfi, Cecilia

Publication type:

Article

Serum Creatinine Distinguishes Duchenne Muscular Dystrophy from Becker Muscular Dystrophy in Patients Aged ≤3 Years: A Restrospective Study.

Published in:

Frontiers in Neurology, 2017, v. 8, p. 1, doi. 10.3389/fneur.2017.00196

By:

Liang Wang;
Menglong Chen;
Ruojie He;
Yiming Sun;
Juan Yang;
Lulu Xiao;
Jiqing Cao;
Huili Zhang;
Cheng Zhang

Publication type:

Article

A predictive analysis of the association between clinical phenotypes and genotypes in children with Becker muscular dystrophy/Duchenne muscular dystrophy.

Published in:

Chinese Journal of Contemporary Pediatrics, 2020, v. 22, n. 6, p. 602, doi. 10.7499/j.issn.1008-8830.1912133

By:

NIU Huan-Hong;
TAO Dong-Ying;
CHENG Sheng-Quan

Publication type:

Article

Valley sign in Becker muscular dystrophy and outliers of Duchenne and Becker muscular dystrophy.

Published in:

Neurology India, 2004, v. 52, n. 2, p. 203

By:

Pradhan, Sunil

Publication type:

Article

Experiences of Women Who Have Had Carrier Testing for Duchenne Muscular Dystrophy and Becker Muscular Dystrophy During Adolescence.

Published in:

Journal of Genetic Counseling, 2018, v. 27, n. 6, p. 1349, doi. 10.1007/s10897-018-0266-0

By:

Fraser, Harry G.;
Redmond, Rebecca Z.;
Scotcher, Diana F.

Publication type:

Article

Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy.

Published in:

Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00304

By:

Trifunov, Selena;
Natera-de Benito, Daniel;
Exposito Escudero, Jesica Maria;
Ortez, Carlos;
Medina, Julita;
Cuadras, Daniel;
Badosa, Carmen;
Carrera, Laura;
Nascimento, Andres;
Jimenez-Mallebrera, Cecilia

Publication type:

Article

A Dual Diagnosis of Okur–Chung Neurodevelopmental Syndrome and Becker Muscular Dystrophy: Inquiry Into the Lower Limits of Neurodevelopmental Functioning Attributable to Muscular Dystrophy.

Published in:

Brain & Behavior, 2025, v. 15, n. 2, p. 1, doi. 10.1002/brb3.70276

By:

Liu, Victoria;
Hanson, Eva;
Owens, Joshua W;
Hopkin, Robert J.;
Shillington, Amelle

Publication type:

Article

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 11, p. 1, doi. 10.1002/mgg3.2123

By:

Karthikeyan, Priya;
Kumar, Shalini H.;
Khanna‐Gupta, Arati;
Bremadesam Raman, Lakshmi

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

Guía de práctica clínica para el diagnóstico y tratamiento de la distrofia muscular de Duchenne. Sociedad Peruana de Neurología. Versión Corta.

Published in:

Acta Médica Peruana, 2022, v. 39, n. 2, p. 205, doi. 10.35663/amp.2022.392.2376

By:

Carol Martínez-Esteban, Peggy;
Guillén-Pinto, Daniel;
Duran Padrós, Alfredo Alfonso;
Koc-Gonzales, Daniel;
Flores-Bravo, Julio;
Méndez-Dávalos, Carlos;
Suyo-Suyo-Suyo, Caroll;
Espíritu-Rojas, Elizabeth R.;
Caballero-Bedón, Nathaly;
Celis-García, Luis E.;
Giulliana Chávez-Pasco, Vilma;
Granados-Guibovich, Katia;
Milagros Graña-Espinoza, Jessica;
Alva-Diaz, Carlos

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

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

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

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

Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1.

Published in:

Molecular Medicine Reports, 2021, v. 23, n. 6, p. N.PAG

By:

Zhang, Cheng;
Zheng, Xueping;
Lu, Deguo;
Xu, Lulu;
Che, Fengyuan;
Liu, Shiguo

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

Elevated Liver Enzymes Indicating a Diagnosis of Limb-Girdle Muscular Dystrophy.

Published in:

JGIM: Journal of General Internal Medicine, 2014, v. 29, n. 5, p. 813, doi. 10.1007/s11606-014-2766-4

By:

Lash, Tyler;
Kraemer, Ryan

Publication type:

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

AChR-seropositive myasthenia gravis in muscular dystrophy: diagnostic pitfalls and clinical management challenges.

Published in:

Neurological Sciences, 2025, v. 46, n. 1, p. 125, doi. 10.1007/s10072-024-07675-6

By:

Avallone, Anna Rosa;
Di Stefano, Vincenzo;
Bevilacqua, Liliana;
Alonge, Paolo;
Lupica, Antonino;
Maccora, Simona;
Monastero, Roberto;
Amabile, Sonia;
Barone, Paolo;
Brighina, Filippo;
Vinciguerra, Claudia

Publication type:

Article

Comparative Analysis of Splicing Alterations in Three Muscular Dystrophies.

Published in:

Biomedicines, 2025, v. 13, n. 3, p. 606, doi. 10.3390/biomedicines13030606

By:

Todorow, Vanessa;
Hintze, Stefan;
Schoser, Benedikt;
Meinke, Peter

Publication type:

Article

Serum protein and imaging biomarkers after intermittent steroid treatment in muscular dystrophy.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-79024-8

By:

Willis, Alexander B.;
Zelikovich, Aaron S.;
Sufit, Robert;
Ajroud-Driss, Senda;
Vandenborne, Krista;
Demonbreun, Alexis R.;
Batra, Abhinandan;
Walter, Glenn A.;
McNally, Elizabeth M.

Publication type:

Article

Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery–Dreifuss Muscular Dystrophy.

Published in:

Cells (2073-4409), 2020, v. 9, n. 4, p. 844, doi. 10.3390/cells9040844

By:

Bertrand, Anne T.;
Brull, Astrid;
Azibani, Feriel;
Benarroch, Louise;
Chikhaoui, Khadija;
Stewart, Colin L.;
Medalia, Ohad;
Ben Yaou, Rabah;
Bonne, Gisèle

Publication type:

Article

Contrasting Becker and Duchenne muscular dystrophy serum biomarker candidates by using data independent acquisition LC-MS/MS.

Published in:

Skeletal Muscle, 2025, v. 15, n. 1, p. 1, doi. 10.1186/s13395-025-00385-3

By:

Johansson, Camilla;
Schrama, Esther J.;
Kotol, David;
Hober, Andreas;
Koeks, Zaïda;
van de Velde, Nienke M.;
Verschuuren, Jan J. G. M.;
Niks, Erik H.;
Edfors, Fredrik;
Spitali, Pietro;
Al-Khalili Szigyarto, Cristina

Publication type:

Article

Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.

Published in:

Clinical Genetics, 2019, v. 96, n. 2, p. 126, doi. 10.1111/cge.13544

By:

ten Dam, Leroy;
Frankhuizen, Wendy S.;
Linssen, Wim H.J.P.;
Straathof, Chiara S.;
Niks, Erik H.;
Faber, Karin;
Fock, Annemarie;
Kuks, Jan B.;
Brusse, Esther;
de Coo, René;
Voermans, Nicol;
Verrips, Aad;
Hoogendijk, Jessica E.;
van der Pol, Ludo;
Westra, Dineke;
de Visser, Marianne;
van der Kooi, Anneke J.;
Ginjaar, Ieke

Publication type:

Article

Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy).

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03087-z

By:

Mori-Yoshimura, Madoka;
Ishigaki, Keiko;
Shimizu-Motohashi, Yuko;
Ishihara, Naoko;
Unuma, Atushi;
Yoshida, Sumiko;
Nakamura, Harumasa

Publication type:

Article

Sources of variation in estimates of Duchenne and Becker muscular dystrophy prevalence in the United States.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02662-0

By:

Whitehead, Nedra;
Erickson, Stephen W.;
Cai, Bo;
McDermott, Suzanne;
Peay, Holly;
Howard, James F.;
Ouyang, Lijing

Publication type:

Article

Identification of circulating miRNAs differentially expressed in patients with Limb-girdle, Duchenne or facioscapulohumeral muscular dystrophies.

Published in:

Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02603-3

By:

García-Giménez, José Luis;
García-Trevijano, Elena R.;
Avilés-Alía, Ana I.;
Ibañez-Cabellos, José Santiago;
Bovea-Marco, Miquel;
Bas, Teresa;
Pallardó, Federico V.;
Viña, Juan R.;
Zaragozá, Rosa

Publication type:

Article

Molecular and Genetic Study of Limb-Girdle Muscular Dystrophy 2D in Patient Cohorts with Various Forms of Progressive Muscular Dystrophies.

Published in:

Russian Journal of Genetics, 2019, v. 55, n. 2, p. 238, doi. 10.1134/S1022795419020030

By:

Bulakh, M. V.;
Galeeva, N. M.;
Polyakova, D. A.;
Ryzhkova, O. P.;
Dadali, E. L.;
Polyakov, A. V.

Publication type:

Article

Validation of Chemokine Biomarkers in Duchenne Muscular Dystrophy.

Published in:

Life (2075-1729), 2021, v. 11, n. 8, p. 827, doi. 10.3390/life11080827

By:

Ogundele, Michael;
Zhang, Jesslyn S.;
Goswami, Mansi V.;
Barbieri, Marissa L.;
Dang, Utkarsh J.;
Novak, James S.;
Hoffman, Eric P.;
Nagaraju, Kanneboyina;
Hathout, Yetrib

Publication type:

Article

Genotype–Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry.

Published in:

Journal of Personalized Medicine, 2020, v. 10, n. 4, p. 241, doi. 10.3390/jpm10040241

By:

Lim, Kenji Rowel Q.;
Nguyen, Quynh;
Yokota, Toshifumi

Publication type:

Article

Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review.

Published in:

2023

By:

Park, Joonhong;
Moon, Young Jae;
Kim, Dal Sik

Publication type:

Case Study

Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.

Published in:

Genes, 2019, v. 10, n. 11, p. 856, doi. 10.3390/genes10110856

By:

Alcántara-Ortigoza, Miguel Angel;
Reyna-Fabián, Miriam Erandi;
González-del Angel, Ariadna;
Estandia-Ortega, Bernardette;
Bermúdez-López, Cesárea;
Cruz-Miranda, Gabriela Marisol;
Ruíz-García, Matilde

Publication type:

Article

Clinical Characteristics of Aged Becker Muscular Dystrophy Patients with Onset after 30 Years.

Published in:

European Neurology, 1999, v. 42, n. 3, p. 145, doi. 10.1159/000008089

By:

Yazaki, Masahide;
Yoshida, Kunihiro;
Nakamura, Akinori;
Koyama, Jun;
Nanba, Takashi;
Ohori, Nobuhira;
Ikeda, Shu-ichi

Publication type:

Article

Caveolin and NOS in the Development of Muscular Dystrophy.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8771, doi. 10.3390/ijms25168771

By:

Nakashima, Moeka;
Suga, Naoko;
Yoshikawa, Sayuri;
Matsuda, Satoru

Publication type:

Article

Histone Deacetylases: Molecular Mechanisms and Therapeutic Implications for Muscular Dystrophies.

Published in:

2023

By:

Sandonà, Martina;
Cavioli, Giorgia;
Renzini, Alessandra;
Cedola, Alessia;
Gigli, Giuseppe;
Coletti, Dario;
McKinsey, Timothy A.;
Moresi, Viviana;
Saccone, Valentina

Publication type:

Literature Review

Mechanisms of Myofibre Death in Muscular Dystrophies: The Emergence of the Regulated Forms of Necrosis in Myology.

Published in:

2023

By:

Bencze, Maximilien

Publication type:

Literature Review

Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.825793

By:

Fan, Yanbin;
Xu, Zhifei;
Li, Xing;
Gao, Feng;
Guo, Enyu;
Chang, Xingzhi;
Wei, Cuijie;
Zhang, Cheng;
Yu, Qing;
Que, Chengli;
Xiao, Jiangxi;
Yan, Chuanzhu;
Wang, Zhaoxia;
Yuan, Yun;
Xiong, Hui

Publication type:

Article

A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.686800

By:

Chausova, P. A.;
Ryzhkova, O. P.;
Rudenskaya, G. E.;
Chernykh, V. B.;
Shchagina, O. A.;
Polyakov, A. V.

Publication type:

Article

Assessment of Intelligence of Duchenne Muscular Dystrophy (DMD) Children and Adults and Parental Stress in a Muscular Dystrophy Center in Nepal.

Published in:

Journal of Nepal Paediatric Society, 2016, v. 36, n. 3, p. 227, doi. 10.3126/jnps.v36i3.16357

By:

M., Rana;
S., Adhikari;
M., Pradhan

Publication type:

Article

Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?

Published in:

Clinical Genetics, 2011, v. 79, n. 3, p. 236, doi. 10.1111/j.1399-0004.2010.01579.x

By:

Helderman-van den Enden, A. T. J. M.;
van den Bergen, J. C.;
Breuning, M. H.;
Verschuuren, J. J. G. M.;
Tibben, A.;
Bakker, E.;
Ginjaar, H. B.

Publication type:

Article

Reliability and validity of the Thai version of the Pediatric Quality of Life inventory™ 3.0 Duchenne Muscular Dystrophy module in Thai children with Duchenne Muscular Dystrophy.

Published in:

2019

By:

Thongsing, Apirada;
Likasitwattanakul, Surachai;
Sanmaneechai, Oranee

Publication type:

journal article

Molekulárně genetická diagnostika svalových dystrofií dětského věku.

Published in:

Neurologie Pro Praxi, 2022, v. 23, n. 1, p. 50

By:

Fajkusová, Lenka;
Zídková, Jana

Publication type:

Article

Kongenitální svalové dystrofie.

Published in:

Neurologie Pro Praxi, 2022, v. 23, n. 1, p. 18

By:

Havlín, Ondřej;
Bálintová, Zdenka;
Juříková, Lenka;
Ošlejšková, Hana

Publication type:

Article

Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients.

Published in:

Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1183663

By:

Van Khanh Tran;
Ngoc-Lan Nguyen;
Lan Ngoc Thi Tran;
Phuong Thi Le;
Anh Hai Tran;
Pham, Tuan L. A.;
Nguyen Thi Kim Lien;
Nguyen Thi Xuan;
Le Tat Thanh;
Thanh Van Ta;
Thinh Huy Tran;
Huy-Hoang Nguyen

Publication type:

Article

Utrophin modulator drugs as potential therapies for Duchenne and Becker muscular dystrophies.

Published in:

Neuropathology & Applied Neurobiology, 2021, v. 47, n. 6, p. 711, doi. 10.1111/nan.12735

By:

Soblechero‐Martín, Patricia;
López‐Martínez, Andrea;
de la Puente‐Ovejero, Laura;
Vallejo‐Illarramendi, Ainara;
Arechavala‐Gomeza, Virginia

Publication type:

Article

Clinical Features and Quality of Life in Duchenne and Becker Muscular Dystrophy Patients from A Tertiary Center in Turkey.

Published in:

Journal of Current Pediatrics / Guncel Pediatri, 2021, v. 19, n. 1, p. 15, doi. 10.4274/jcp.2021.0003

By:

Köken, Özlem Yayıcı;
Kucur, Özge;
Taşkıran, Candan;
Öztoprak, Ülkühan;
Sel, Çiğdem Genç;
Aksoy, Erhan;
Aksoy, Ayse;
Yoldaş, Tamer;
Yüksel, Deniz

Publication type:

Article

Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy).

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-60

By:

Nakamura, Harumasa;
Kimura, En;
Mori-Yoshimura, Madoka;
Komaki, Hirofumi;
Matsuda, Yu;
Goto, Kanako;
Hayashi, Yukiko K.;
Nishino, Ichizo;
Takeda, Shin'ichi;
Kawai, Mitsuru

Publication type:

Article

Duchenne and Becker muscular dystrophies: An Indian update on genetics and rehabilitation.

Published in:

Neurology India, 2008, v. 56, n. 3, p. 248, doi. 10.4103/0028-3886.43442

By:

Nadkarni, Jayshree J.;
Dastur, Rashna S.;
Viswanathan, V.;
Gaitonde, Pradnya S.;
Khadilkar, Satish V.

Publication type:

Article