Works about MUSCULAR dystrophy

Results: 2759

Novel variant of COL12A1 gene causing neonatal hypotonia and respiratory failure.

Published in:

Neurological Sciences, 2025, v. 46, n. 6, p. 2847, doi. 10.1007/s10072-025-08028-7

By:

Huang, Huizhi;
Deng, Luyao;
Zhang, Yu;
Wang, Ying;
Yan, Dongya;
Lin, Xianhong;
Wang, Yan;
Wang, Yingyan;
Hu, Xiaofeng

Publication type:

Article

lncRNA AK159072 Promotes Myoblast Proliferation and Muscle Regeneration Through Activation of Akt/Foxo1 Pathway.

Published in:

Journal of Biochemical & Molecular Toxicology, 2025, v. 39, n. 5, p. 1, doi. 10.1002/jbt.70292

By:

Lei, Si;
Chen, Rui;
Shi, Huacai;
Zhou, Shanyao;
She, Yanling

Publication type:

Article

The diagnosis of myotonic dystrophy type 2 in a patient with calpainopathy requires the determination of CCTG expansion.

Published in:

2025

By:

Finsterer, Josef

Publication type:

Letter

Distrofia muscular de cinturas y extremidades autosómica recesiva 10. Reporte de caso.

Published in:

Revista Medica del IMSS, 2025, v. 63, n. 1, p. 1, doi. 10.5281/zenodo.14201220

By:

Alberto Pérez-Arzola, Alan;
Juárez-Melchor, Daniela;
Enrique Crisanto-López, Israel;
Vera-Loaiza, Aurea;
Hernández-Castañeda, Yazmin;
Alejandra Guzmán-Santiago, Tania;
Jiménez-Pérez, Berenice;
Omar Rodríguez-Hurtado, Pablo;
Salazar-Bonilla, Wilbert

Publication type:

Article

Propofol-induced violent coughing in a patient with Becker's muscular dystrophy.

Published in:

2011

By:

Jain, Amit

Publication type:

Case Study

Regarding: muscular dystrophy and the safety of inhalational agents.

Published in:

2007

By:

Schwartz, Donald

Publication type:

Letter

Author's reply.

Published in:

Pediatric Anesthesia, 2007, v. 17, n. 1, p. 96, doi. 10.1111/j.1460-9592.2006.02049.x

By:

Yemen, Terrance A.

Publication type:

Article

Muscular dystrophy versus mitochondrial myopathy: the dilemma of the undiagnosed hypotonic child.

Published in:

2007

By:

ALLISON, KINDER ROSS

Publication type:

Editorial

Rocuronium 0.3 mg·kg<sup>−1</sup> (ED<sub> 95</sub>) induces a normal peak effect but an altered time course of neuromuscular block in patients with Duchenne's muscular dystrophy.

Published in:

Pediatric Anesthesia, 2006, v. 16, n. 8, p. 840, doi. 10.1111/j.1460-9592.2006.01870.x

By:

Muenster, Tino;
Schmidt, Joachim;
Wick, Stefanie;
Forst, Juergen;
Schmitt, Hubert J.

Publication type:

Article

Suspected malignant hyperthermia in a child with laminin α2 (merosin) deficiency in the absence of a triggering agent.

Published in:

Pediatric Anesthesia, 2006, v. 16, n. 4, p. 462, doi. 10.1111/j.1460-9592.2005.01742.x

By:

Shukry, Mohanad;
Guruli, Zurab V;
Ramadhyani, Usha

Publication type:

Article

The postoperative cardiovascular arrest of a 5-year-old male: an initial presentation of Duchenne's muscular dystrophy.

Published in:

Pediatric Anesthesia, 2006, v. 16, n. 2, p. 170, doi. 10.1111/j.1460-9592.2005.01698.x

By:

Girshin, Michael;
Mukherjee, Jana;
Clowney, Ross;
Singer, Lewis P.;
Wasnick, John

Publication type:

Article

Muscular dystrophy, anesthesia and the safety of inhalational agents revisited; again.

Published in:

2006

By:

Yemen, Terry A.;
McClain, Craig

Publication type:

Editorial

Vitamin Supplements Improve a Model Form of Muscular Dystrophy.

Published in:

2012

By:

Robinson, Richard

Publication type:

Abstract

NAD+ Biosynthesis Ameliorates a Zebrafish Model of Muscular Dystrophy.

Published in:

PLoS Biology, 2012, v. 10, n. 10, p. 1, doi. 10.1371/journal.pbio.1001409

By:

Goody, Michelle F.;
Kelly, Meghan W.;
Reynolds, Christine J.;
Khalil, Andre;
Crawford, Bryan D.;
Henry, Clarissa A.

Publication type:

Article

Facing Muscular Dystrophy During Covid-19 Pandemic: The Role of Support Associations and Spirituality.

Published in:

Pastoral Psychology, 2022, v. 71, n. 2, p. 217, doi. 10.1007/s11089-022-00997-2

By:

Palazzo, Lorenza;
Pompele, Sara;
Rossi, Marta;
Rossi, Gabriella;
Spinoglio, Simona;
Testoni, Ines

Publication type:

Article

Electrocardiographic and echocardiographic findings in muscular dystrophy patients with heart failure.

Published in:

Heart & Vessels, 2018, v. 33, n. 12, p. 1576, doi. 10.1007/s00380-018-1186-5

By:

Ogiso, Masataka;
Isogai, Toshiaki;
Kato, Ken;
Tanaka, Hiroyuki;
Tejima, Tamotsu;
Isozaki, Eiji

Publication type:

Article

Reply.

Published in:

European Radiology, 2003, v. 13, n. 12, p. 2712, doi. 10.1007/s00330-003-1858-z

By:

Pichiecchio, Anna;
Uggetti, Carla;
Egitto, Maria Grazia

Publication type:

Article

Quantitative MR evaluation of body composition in patients with Duchenne muscular dystrophy.

Published in:

2002

By:

Pichiecchio, Anna;
Uggetti, Carla;
Egitto, Maria;
Berardinelli, Angela;
Orcesi, Simona;
Gorni, Ksenija;
Zanardi, Cristina;
Tagliabue, Anna;
Egitto, Maria Grazia;
Gorni, Ksenija Olga Tatiana

Publication type:

journal article

Creatine as a therapeutic strategy for myopathies.

Published in:

Amino Acids, 2011, v. 40, n. 5, p. 1397, doi. 10.1007/s00726-011-0876-4

By:

Tarnopolsky, M.

Publication type:

Article

Skeletal muscle phenotyping of Hippo gene-mutated mice reveals that Lats1 deletion increases the percentage of type I muscle fibers.

Published in:

Transgenic Research, 2022, v. 31, n. 2, p. 227, doi. 10.1007/s11248-021-00293-4

By:

Nezhad, Fakhreddin Yaghoob;
Riermeier, Annett;
Schönfelder, Martin;
Becker, Lore;
de Angelis, Martin Hrabĕ;
Wackerhage, Henning

Publication type:

Article

Muscling in on gene therapy.

Published in:

Nature, 1993, v. 364, n. 6439, p. 673, doi. 10.1038/364673a0

By:

Blau, Helen M.

Publication type:

Article

Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive...

Published in:

Nature, 1992, v. 359, n. 6393, p. 320, doi. 10.1038/359320a0

By:

Matsumura, Kiichiro;
Tome, Fernando M.S.

Publication type:

Article

Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular...

Published in:

Nature, 1992, v. 355, n. 6362, p. 696, doi. 10.1038/355696a0

By:

Ibraghimov-Beskrovnaya, O.;
Ervasti, J.M.

Publication type:

Article

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy.

Published in:

Nature, 1992, v. 355, n. 6360, p. 547, doi. 10.1038/355547a0

By:

Buxton, J.;
Shelbourne, P.

Publication type:

Article

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.

Published in:

Nature, 1992, v. 355, n. 6360, p. 545, doi. 10.1038/355545a0

By:

Harley, H.G.;
Brook, J.D.

Publication type:

Article

Genetic investigation of an Iraqi family with Emery-Dreifuss muscular dystrophy.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00074-1

By:

Neissi, Mostafa;
Al-Zaalan, Ayoob Radhi;
Al-Badran, Adnan Issa;
Mohammadi-Asl, Javad

Publication type:

Article

Preliminary reliability and validity of the PedsQL™ Family Impact Module in parents of children with congenital muscular dystrophy.

Published in:

Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00057-8

By:

Lim, Yoonjeong;
Lee, Seungmin;
Hong, Ickpyo;
Han, Areum

Publication type:

Article

A homozygous mutation in the POMT2 gene in four siblings with limb-girdle muscular dystrophy 2N.

Published in:

Turkish Archives of Pediatrics, 2021, v. 56, n. 1, p. 68, doi. 10.14744/TurkPediatriArs.2020.37880

By:

Yıldırım, Miraç;
Eker, Hatice Koçak;
Doğan, Melih Timuçin

Publication type:

Article

Autosomal recessive VWA1-related disorder: comprehensive analysis of phenotypic variability and genetic mutations.

Published in:

Brain Communications, 2024, v. 6, n. 6, p. 1, doi. 10.1093/braincomms/fcae377

By:

Nagy, Sara;
Pagnamenta, Alistair T;
Cali, Elisa;
Braakman, Hilde M H;
Wijntjes, Juerd;
Kusters, Benno;
Gotkine, Marc;
Elpeleg, Orly;
Meiner, Vardiella;
Lenberg, Jerica;
Wigby, Kristen;
Friedman, Jennifer;
Perry, Luke D;
Rossor, Alexander M;
Meszarosova, Anna Uhrova;
Thomasova, Dana;
Jacob, Saiju;
O'Driscoll, Mary;
Simone, Lenika De;
Grange, Dorothy K

Publication type:

Article

International retrospective natural history study of LMNA-related congenital muscular dystrophy.

Published in:

Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab075

By:

Yaou, Rabah Ben;
Yun, Pomi;
Dabaj, Ivana;
Norato, Gina;
Donkervoort, Sandra;
Hui Xiong;
Nascimento, Andrés;
Maggi, Lorenzo;
Sarkozy, Anna;
Monges, Soledad;
Bertoli, Marta;
Hirofumi Komaki;
Mayer, Michèle;
Mercuri, Eugenio;
Zanoteli, Edmar;
Castiglioni, Claudia;
Marini-Bettolo, Chiara;
D'Amico, Adele;
Deconinck, Nicolas;
Desguerre, Isabelle

Publication type:

Article

PRZEGLĄD PIŚMIENNICTWA.

Published in:

Polski Przegląd Neurologiczny, 2024, v. 20, n. 4, p. 242, doi. 10.5603/ppn.103875

By:

Marschollek, Karol

Publication type:

Article

Gelatinous drop-like corneal dystrophy in a child with developmental delay: clinicopathological features and exclusion of the M1S1 gene.

Published in:

2005

By:

Akhtar, S.;
Bron, A. J.;
Qin, X.;
Creer, R. C.;
Guggenheim, J. A.;
Meek, K. M.

Publication type:

journal article

Cardiac manifestations and clinical management of X-linked Emery-Dreifuss muscular dystrophy: a case series.

Published in:

European Heart Journal Case Reports, 2023, v. 7, n. 1, p. 1, doi. 10.1093/ehjcr/ytad013

By:

Kashyap, Niharika;
Nikhanj, Anish;
Gagnon, Luke R;
Moukaskas, Basel;
Siddiqi, Zaeem A;
Oudit, Gavin Y

Publication type:

Article

CASE REPORT Orthodontic treatment of a case of Becker muscular dystrophy.

Published in:

Orthodontics & Craniofacial Research, 2004, v. 7, n. 1, p. 55, doi. 10.1046/j.1601-6335.2003.00271.x

By:

Suda, N.;
Matsuda, A.;
Yoda, S.;
Ishizaki, T.;
Higashibori, N.;
Kim, F.;
Otani-Saito, K.;
Ohyama, K.

Publication type:

Article

Cellular senescence in human myoblasts is overcome by human telomerase reverse transcriptase and cyclin-dependent kinase 4: consequences in aging muscle and therapeutic strategies for muscular dystrophies.

Published in:

Aging Cell, 2007, v. 6, n. 4, p. 515, doi. 10.1111/j.1474-9726.2007.00306.x

By:

Chun-Hong Zhu;
Mouly, Vincent;
Cooper, Racquel N.;
Mamchaoui, Kamel;
Bigot, Anne;
Shay, Jerry W.;
Di Santo, James P.;
Butler-Browne, Gillian S.;
Wright, Woodring E.

Publication type:

Article

Timed immersion expiration measures in patients with muscular dystrophies.

Published in:

Archives of Physiotherapy, 2020, v. 10, n. 1, p. 1, doi. 10.1186/s40945-020-0074-3

By:

Voos, Mariana Callil;
Goya, Priscila Santos Albuquerque;
de Freitas, Bruna Leal;
Pires, Aline Moço Teixeira;
Favero, Francis Meire;
Caromano, Fátima Aparecida

Publication type:

Article

APPROACHES AND DIRECTIONS FOR THE PHYSIOTHERAPEUTIC MANAGEMENT OF PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY.

Published in:

Bulletin of the Transilvania University of Brasov, Series IX: Sciences of Human Kinetics, 2023, v. 16, n. 2, p. 201, doi. 10.31926/but.shk.2023.16.65.2.24

By:

BOLDEANU, I. STĂNESCU;
VASILESCU, M. M.;
RUSU, L.

Publication type:

Article

Development of the PROMIS pediatric stigma and extension to the PROMIS pediatric stigma: skin item banks.

Published in:

Quality of Life Research, 2024, v. 33, n. 3, p. 865, doi. 10.1007/s11136-023-03574-z

By:

Lai, Jin-Shei;
Nowinski, Cindy;
Rangel, Stephanie M.;
Batra, Shalini Thareja;
Mueller, Kelly;
Chamlin, Sarah;
Ustsinovich, Vitali;
Cella, David;
Mansolf, Maxwell;
Paller, Amy S.

Publication type:

Article

Impact and predictors of quality of life in adults diagnosed with a genetic muscle disorder: a nationwide population-based study.

Published in:

Quality of Life Research, 2022, v. 31, n. 6, p. 1657, doi. 10.1007/s11136-021-03046-2

By:

Theadom, Alice;
Rodrigues, Miriam;
Ranta, Annemarei;
Poke, Gemma;
Love, Donald;
Jones, Kelly;
Ao, Braden Te;
Hammond-Tooke, Graeme;
Parmar, Priya;
O'Grady, Gina;
Roxburgh, Richard;
the MDPrev Research Group;
Walker, Kerry;
Higgins, Chris;
Feigin, Valery;
Krishnamurthi, Rita;
Vandal, Alain;
Brown, Paul;
Stewart, Jenny

Publication type:

Article

Development and validation of the University of Washington caregiver stress and benefit scales for caregivers of children with or without serious health conditions.

Published in:

2020

By:

Amtmann, Dagmar;
Liljenquist, Kendra S.;
Bamer, Alyssa;
Gammaitoni, Arnold R.;
Aron, Carey R.;
Galer, Bradley S.;
Jensen, Mark P.

Publication type:

journal article

Measuring quality of life in children with spinal muscular atrophy: a systematic literature review.

Published in:

2018

By:

Vaidya, Shalvaree;
Boes, Stefan

Publication type:

journal article

Testing the measurement invariance of the University of Washington Self-Efficacy Scale short form across four diagnostic subgroups.

Published in:

2016

By:

Chung, Hyewon;
Kim, Jiseon;
Park, Ryoungsun;
Bamer, Alyssa;
Bocell, Fraser;
Amtmann, Dagmar;
Bamer, Alyssa M;
Bocell, Fraser D

Publication type:

journal article

Genetic deletion of muscle RANK or selective inhibition of RANKL is not as effective as full-length OPG-fc in mitigating muscular dystrophy.

Published in:

Acta Neuropathologica Communications, 2018, v. 6, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0533-1

By:

Dufresne, Sébastien S.;
Boulanger-Piette, Antoine;
Bossé, Sabrina;
Argaw, Anteneh;
Hamoudi, Dounia;
Marcadet, Laetitia;
Gamu, Daniel;
Fajardo, Val A.;
Yagita, Hideo;
Penninger, Josef M.;
Russell Tupling, A.;
Frenette, Jérôme

Publication type:

Article

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.

Published in:

Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0474-0

By:

Unger, Andreas;
Beckendorf, Lisa;
Böhme, Pierre;
Kley, Rudolf;
Frieling-Salewsky, Marion von;
Lochmüller, Hanns;
Schröder, Rolf;
Fürst, Dieter O.;
Vorgerd, Matthias;
Linke, Wolfgang A.

Publication type:

Article

Casein‐enhanced uptake and disease‐modifying bioactivity of ingested extracellular vesicles.

Published in:

Journal of Extracellular Vesicles, 2021, v. 10, n. 3, p. 1, doi. 10.1002/jev2.12045

By:

Aminzadeh, Mark A.;
Fournier, Mario;
Akhmerov, Akbarshakh;
Jones‐Ungerleider, K. Candis;
Valle, Jackelyn B.;
Marbán, Eduardo

Publication type:

Article

Why do we need new classifications like DC-CMS?

Published in:

Journal of Craniomandibular Function, 2024, v. 16, n. 4, p. 287

By:

Neff, Andreas

Publication type:

Article

Atrioventricular muscular dystrophy in a 5-month-old English springer spaniel.

Published in:

2009

By:

Lai, Serene R.

Publication type:

Case Study

Inhibitory CCK+ basket synapse defects in mouse models of dystroglycanopathy.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.87965

By:

Jahncke, Jennifer N.;
Miller, Daniel S.;
Krush, Milana;
Schnell, Eric;
Wright, Kevin M.

Publication type:

Article

A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family.

Published in:

2024

By:

Maiga, Alassane Baneye;
Pamanta, Ibrahim;
Bamba, Salia;
Cissé, Lassana;
Diarra, Salimata;
Touré, Sidi;
Yalcouyé, Abdoulaye;
Diallo, Seydou;
Diallo, Salimata;
Kané, Fousseyni;
Diallo, Seybou Hassane;
Ba, Hamidou Oumar;
Guinto, Cheick Oumar;
Fischbeck, Kenneth;
Landoure, Guida;
Cissé, Idrissa Ahmadou

Publication type:

Case Study

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