Works matching Muscular dystrophy

Results: 5000

Pletencové svalové dystrofie.

Published in:

Neurologie Pro Praxi, 2021, v. 22, n. 2, p. 100

By:

Fajkusová, Lenka;
Zídková, Jana

Publication type:

Article

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

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

Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): Case Definition in Surveillance for Childhood-Onset Duchenne/Becker Muscular Dystrophy.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 9, p. 1098, doi. 10.1177/0883073810371001

By:

Mathews, Katherine D.;
Cunniff, Chris;
Kantamneni, Jiji R.;
Ciafaloni, Emma;
Miller, Timothy;
Matthews, Dennis;
Cwik, Valerie;
Druschel, Charlotte;
Miller, Lisa;
Meaney, F. John;
Sladky, John;
Romitti, Paul A.

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

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

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

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

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

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

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

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

THE DIAGNOSIS OF MUSCULAR DYSTROPHY IN PATIENTS REFERRED FOR LANGUAGE DELAY.

Published in:

Journal of Child Psychology & Psychiatry, 1986, v. 27, n. 4, p. 545, doi. 10.1111/j.1469-7610.1986.tb00641.x

By:

Kaplan, Lawrence C.;
Osborne, Prisilla;
Ellas, Ellen

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

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

Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges.

Published in:

Journal of Personalized Medicine, 2018, v. 8, n. 4, p. 41, doi. 10.3390/jpm8040041

By:

Echigoya, Yusuke;
Lim, Kenji Rowel Q.;
Nakamura, Akinori;
Yokota, Toshifumi

Publication type:

Article

Musküler Distrofilerde Dikkat Eksikliği Hiperaktivite Bozukluğu ve Metilfenidatın Güvenilirlik ve Etkinliği: İki Olgu.

Published in:

Journal of Kartal Training & Research Hospital / Kartal Egitim ve Arastirma Hastanesi Tip Dergisi, 2014, v. 25, n. 1, p. 69, doi. 10.5505/jkartaltr.2014.69926

By:

EKİNCİ, Özalp;
ÇELİK, Tanju;
ŞİLFELER, İbrahim;
TOROS, Fevziye

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

Cardiac magnetic resonance in patients with muscular dystrophies.

Published in:

European Journal of Preventive Cardiology, 2021, v. 28, n. 14, p. 1526, doi. 10.1177/2047487320923052

By:

Grigoratos, Chrysanthos;
Aimo, Alberto;
Barison, Andrea;
Castiglione, Vincenzo;
Todiere, Giancarlo;
Ricci, Giulia;
Siciliano, Gabriele;
Emdin, Michele

Publication type:

Article

Oculopharyngeal muscular dystrophy as a rare cause of dysphagia.

Published in:

2015

By:

Werling, Sarah;
Schrank, Bertold;
Eckardt, Alexander J.;
Hauburger, Anja;
Deschauer, Marcus;
Müller, Michaela

Publication type:

Case Study

Skeletal, cardiac, and respiratory muscle function and histopathology in the <italic>P448Lneo−</italic> mouse model of FKRP-deficient muscular dystrophy.

Published in:

Skeletal Muscle, 2018, v. 8, n. 1, p. 1, doi. 10.1186/s13395-018-0158-x

By:

Yu, Qing;
Morales, Melissa;
Li, Ning;
Fritz, Alexander G.;
Ruobing, Ren;
Blaeser, Anthony;
Francois, Ershia;
Lu, Qi-Long;
Nagaraju, Kanneboyina;
Spurney, Christopher F.

Publication type:

Article

Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F.

Published in:

Skeletal Muscle, 2017, v. 7, p. 1, doi. 10.1186/s13395-017-0127-9

By:

Peter, Angela K.;
Miller, Gaynor;
Capote, Joana;
Difranco, Marino;
Solares-Pérez, Alhondra;
Wang, Emily L.;
Heighway, Jim;
Coral-Vázquez, Ramón M.;
Vergara, Julio;
Crosbie-Watson, Rachelle H.

Publication type:

Article

The golden retriever model of Duchenne muscular dystrophy.

Published in:

Skeletal Muscle, 2017, v. 7, p. 1, doi. 10.1186/s13395-017-0124-z

By:

Kornegay, Joe N.

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

Early-Onset Facioscapulohumeral Muscular Dystrophy Type 1 With Some Atypical Features.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 5, p. 580, doi. 10.1177/0883073814528281

By:

Dorobek, Małgorzata;
van der Maarel, Silvère M.;
Lemmers, Richard J. L. F.;
Ryniewicz, Barbara;
Kabzińska, Dagmara;
Frants, Rune R.;
Gawel, Malgorzata;
Walecki, Jerzy;
Hausmanowa-Petrusewicz, Irena

Publication type:

Article

Cardiac and Pulmonary Function Variability in Duchenne/Becker Muscular Dystrophy: An Initial Report.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 9, p. 1110, doi. 10.1177/0883073810371003

By:

Birnkrant, David J.;
Ashwath, Mahi Lakshmi;
Noritz, Garey H.;
Merrill, Michelle C.;
Shah, Tushar A.;
Crowe, Carol A.;
Bahler, Robert C.

Publication type:

Article

Partial Epilepsy in an Adolescent Male With Limb-Girdle Muscular Dystrophy 1B.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 3, p. 346, doi. 10.1177/0883073808323525

By:

Chang-Yong Tsao;
Mendell, Jerry R.

Publication type:

Article

Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives.

Published in:

Cellular & Molecular Life Sciences, 2020, v. 77, n. 21, p. 4299, doi. 10.1007/s00018-020-03537-4

By:

Brusa, Roberta;
Magri, Francesca;
Bresolin, Nereo;
Comi, Giacomo Pietro;
Corti, Stefania

Publication type:

Article

Machine learning-based radiomics using MRI to differentiate early-stage Duchenne and Becker muscular dystrophy in children.

Published in:

BMC Musculoskeletal Disorders, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12891-025-08538-7

By:

Chen, Taiya;
Zhu, Haoran;
Hu, Yingyi;
Huang, Yang;
He, Wengan;
Luo, Yizhen;
Wu, Zeqi;
Fang, Diangang;
Sun, Longwei;
Zeng, Hongwu;
Li, Zhiyong

Publication type:

Article

Palliative care services in families of males with muscular dystrophy: Data from MD STARnet.

Published in:

SAGE Open Medicine, 2019, p. N.PAG, doi. 10.1177/2050312119840518

By:

Andrews, Jennifer G;
Pandya, Shree;
Trout, Christina;
Jaff, Treeva;
Matthews, Dennis;
Cunniff, Christopher;
Meaney, F John

Publication type:

Article

Anesthetic implications of muscular dystrophies.

Published in:

Colombian Journal of Anesthesiology / Revista Colombiana de Anestesiología, 2018, v. 46, n. 3, p. 228, doi. 10.1097/CJ9.0000000000000059

By:

Echeverry-Marín, Piedad Cecilia;
Bustamante-Vega, Ángela María

Publication type:

Article

Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes.

Published in:

Nucleus (1949-1034), 2018, v. 9, n. 1, p. 337, doi. 10.1080/19491034.2018.1467722

By:

Bernasconi, Pia;
Carboni, Nicola;
Ricci, Giulia;
Siciliano, Gabriele;
Politano, Luisa;
Maggi, Lorenzo;
Mongini, Tiziana;
Vercelli, Liliana;
Rodolico, Carmelo;
Biagini, Elena;
Boriani, Giuseppe;
Ruggiero, Lucia;
Santoro, Lucio;
Schena, Elisa;
Prencipe, Sabino;
Evangelisti, Camilla;
Pegoraro, Elena;
Morandi, Lucia;
Columbaro, Marta;
Lanzuolo, Chiara

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

A Movement Monitor Based on Magneto-Inertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment.

Published in:

PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0156696

By:

Le Moing, Anne-Gaëlle;
Seferian, Andreea Mihaela;
Moraux, Amélie;
Annoussamy, Mélanie;
Dorveaux, Eric;
Gasnier, Erwan;
Hogrel, Jean-Yves;
Voit, Thomas;
Vissière, David;
Servais, Laurent

Publication type:

Article

Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D.

Published in:

PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0153095

By:

Fayssoil, Abdallah;
Ogna, Adam;
Chaffaut, Cendrine;
Chevret, Sylvie;
Guimarães-Costa, Raquel;
Leturcq, France;
Wahbi, Karim;
Prigent, Helene;
Lofaso, Frederic;
Nardi, Olivier;
Clair, Bernard;
Behin, Anthony;
Stojkovic, Tanya;
Laforet, Pascal;
Orlikowski, David;
Annane, Djillali

Publication type:

Article

Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies.

Published in:

PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0150818

By:

Janghra, Narinder;
Morgan, Jennifer E.;
Sewry, Caroline A.;
Wilson, Francis X.;
Davies, Kay E.;
Muntoni, Francesco;
Tinsley, Jonathon

Publication type:

Article

Improved Muscle Function in Duchenne Muscular Dystrophy through L-Arginine and Metformin: An Investigator-Initiated, Open-Label, Single-Center, Proof-Of-Concept-Study.

Published in:

PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0147634

By:

Hafner, Patricia;
Bonati, Ulrike;
Erne, Beat;
Schmid, Maurice;
Rubino, Daniela;
Pohlman, Urs;
Peters, Thomas;
Rutz, Erich;
Frank, Stephan;
Neuhaus, Cornelia;
Deuster, Stefanie;
Gloor, Monika;
Bieri, Oliver;
Fischmann, Arne;
Sinnreich, Michael;
Gueven, Nuri;
Fischer, Dirk

Publication type:

Article

Methylphenidate treatment of a Chinese boy with Becker muscular dystrophy combined with attention deficit hyperactivity disorder: a case report.

Published in:

2024

By:

Shen, Fang;
Zhou, Hui

Publication type:

Case Study

Three-dimensional MR imaging of brain surface anomalies in fukuyama-type congenital muscular dystrophy.

Published in:

Muscle & Nerve, 1995, v. 18, n. 5, p. 508, doi. 10.1002/mus.880180506

By:

Toda, Tatsushi;
Watanabe, Toshiaki;
Matsumura, Kiichiro;
Sunada, Yoshihide;
Yamada, Hiroki;
Nakano, Imaharu;
Mannen, Toru;
Kanazawa, Ichiro;
Shimizu, Teruo

Publication type:

Article

Molecular analysis of the duchenne muscular dystrophy gene in patients with becker muscular dystrophy presenting with dilated cardiomyopathy.

Published in:

Muscle & Nerve, 1993, v. 16, n. 11, p. 1161, doi. 10.1002/mus.880161104

By:

Yoshida, Kunihiro;
Ikeda, Shu-Ichi;
Nakamura, Akinori;
Kagoshima, Mitsuru;
Takeda, Shin'ichi;
Shoji, Shin'ichi;
Yanagisawa, Nobuo

Publication type:

Article

Autosomal recessive duchenne like muscular dystrophy: Molecular and histochemical results.

Published in:

Muscle & Nerve, 1991, v. 14, n. 12, p. 1209, doi. 10.1002/mus.880141212

By:

McGuire, Stephen A.;
Fischbeck, Kenneth H.

Publication type:

Article

Duchenne Muscular Dystrophy: Genetic and Clinical Profile in the Population of Rajasthan, India.

Published in:

Annals of Indian Academy of Neurology, 2021, v. 24, n. 6, p. 873, doi. 10.4103/aian.AIAN_126_21

By:

Goyal, Manisha;
Gupta, Ashok;
Agarwal, Kamlesh;
Kapoor, Seema;
Kumar, Somesh

Publication type:

Article

Aquatic physical therapy in individuals with muscular dystrophy: systematic scoping review.

Published in:

Fisioterapia e Pesquisa, 2020, v. 27, n. 1, p. 100, doi. 10.1590/1809-2950/18031327012020

By:

Ribeiro de Lima, Ana Angélica;
Cordeiro, Luciana

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

Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network.

Published in:

2016

By:

Reiko Shimizu;
Katsuhisa Ogata;
Akemi Tamaura;
En Kimura;
Maki Ohata;
Eri Takeshita;
Harumasa Nakamura;
Shin'ichi Takeda;
Hirofumi Komaki;
Shimizu, Reiko;
Ogata, Katsuhisa;
Tamaura, Akemi;
Kimura, En;
Ohata, Maki;
Takeshita, Eri;
Nakamura, Harumasa;
Takeda, Shin'ichi;
Komaki, Hirofumi

Publication type:

journal article

Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR.

Published in:

Journal of Neurology, 2004, v. 251, n. 1, p. 72, doi. 10.1007/s00415-004-0274-x

By:

Arning, Larissa;
Jagiello, Peter;
Schara, Ulrike;
Vorgerd, Matthias;
Dahmen, Norbert;
Gencikova, Alexandra;
Mortier, Wilhelm;
Epplen, Jörg T.;
Gencik, Martin

Publication type:

Article

Anoctamin-5 Muscular Dystrophy: Report of Two Cases with Different Phenotypes and Genotypes from the Indian Subcontinent.

Published in:

Neurology India, 2022, v. 70, n. 5, p. 2169, doi. 10.4103/0028-3886.359155

By:

Mahajan, Swati;
Dhall, Aishwarya;
Jassal, Bandana;
Saluja, Alvee;
Faruq, Mohammed;
Suri, Vaishali;
Rajan, Roopa;
Vishnu, Venugopalan Y.;
Sharma, Mehar C.

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