Works matching DE "MUSCULAR dystrophy in children"

Results: 208

Commonly available outcome measures for use in Indian boys with Duchenne muscular dystrophy.

Published in:

2018

By:

Arora, Harneet

Publication type:

journal article

Author's Reply: Standard of care for Duchenne muscular dystrophy in children.

Published in:

2018

By:

Nalini, A.

Publication type:

journal article

Establishing the natural history of disease.

Published in:

2018

By:

Sunil, K. R.

Publication type:

Letter

The action potential-evoked sarcoplasmic reticulum calcium release is impaired in mdx mouse muscle fibres.

Published in:

Journal of Physiology, 2004, v. 557, n. 1, p. 59, doi. 10.1113/jphysiol.2004.061291

By:

Woods, Christopher E.;
Novo, David;
DiFranco, Marino;
Vergara, Julio L.

Publication type:

Article

Progress in therapy for Duchenne muscular dystrophy.

Published in:

Experimental Physiology, 2011, v. 96, n. 11, p. 1101, doi. 10.1113/expphysiol.2010.053025

By:

Fairclough, Rebecca J.;
Bareja, Akshay;
Davies, Kay E.

Publication type:

Article

How do physical capacity, fatigue and performance differ in children with duchenne muscular dystrophy compared with their healthy peers?

Published in:

Neurosciences, 2018, v. 23, n. 1, p. 39, doi. 10.17712/nsj.2018.1.20170242

By:

Mutlu, Akmer;
Alkan, Halil;
Fırat, Tüzün;
Karaduman, Aynur A.;
Yılmaz, Öznur T.

Publication type:

Article

Bilateral Atypical Granular Corneal Dystrophy Associated with Unilateral Keratoconus in a Male Child.

Published in:

Middle East African Journal of Ophthalmology, 2016, v. 23, n. 3, p. 262, doi. 10.4103/0974-9233.186151

By:

Dangra, Kavita Lohiya;
Das, Manoranjan;
Periasamy, Sundersan;
Prajna, N. Venkatesh

Publication type:

Article

Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care.

Published in:

2017

By:

Heller, Felice;
Dabaj, Ivana;
Mah, Jean K.;
Bergounioux, Jean;
Essid, Aben;
Bönnemann, Carsten G.;
Rutkowski, Anne;
Bonne, Gisèle;
Quijano-Roy, Susana;
Wahbi, Karim;
Bönnemann, Carsten G

Publication type:

journal article

Deletion and duplication screening in the DMD gene using MLPA.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1231, doi. 10.1038/sj.ejhg.5201465

By:

Lalic, Tanja;
Vossen, Rolf H. A. M.;
Coffa, Jordy;
Schouten, Jan P.;
Guc-Scekic, Marija;
Radivojevic, Danijela;
Djurisic, Marina;
Breuning, Martÿn H;
White, Stefan J.;
den Dunnen, Johan T.

Publication type:

Article

Gene Therapy: The‘pro-sense’approach to Duchenne muscular dystrophy.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 518, doi. 10.1038/sj.ejhg.5201381

By:

van Deutekom, Judith C. T.

Publication type:

Article

Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 7, p. 552, doi. 10.1038/sj.ejhg.5200488

By:

Moizard, Marie-Pierre;
Toutain, Annick;
Fournier, Delphine;
Berret, Françoise;
Raynaud, Martine;
Billard, Catherine;
Andres, Christian;
Moraine, Claude

Publication type:

Article

Early Observations on Duchenne-Meryon Muscular Dystrophy.

Published in:

European Neurology, 2005, v. 54, n. 1, p. 46, doi. 10.1159/000087386

By:

Pearce, J. M. S.

Publication type:

Article

Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy.

Published in:

European Journal of Neurology, 2007, v. 14, n. 10, p. 1182, doi. 10.1111/j.1468-1331.2007.01917.x

By:

Vondracek, P.;
Hermanova, M.;
Sedlackova, J.;
Fajkusova, L.;
Stary, D.;
Michenkova, A.;
Gaillyova, R.;
Seeman, P.;
Mazanec, R.

Publication type:

Article

Muscular Dystrophy in Children. A Guide for Families.

Published in:

2000

By:

Jellinger, K. A.

Publication type:

Book Review

Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy.

Published in:

BMC Medical Genomics, 2011, v. 4, n. 1, p. 36, doi. 10.1186/1755-8794-4-36

By:

Kemaladewi, Dwi U.;
Hoogaars, Willem M. H.;
van Heiningen, Sandra H.;
Terlouw, Samuel;
de Gorter, David J. J.;
den Dunnen, Johan T.;
van Ommen, Gert Jan B.;
Aartsma-Rus, Annemieke;
ten Dijke, Peter;
Hoen, Peter A. C. 't

Publication type:

Article

DYSTROFIA MIĘŚNIOWA DUCHENNE'A - W POSZUKIWANIU TERAPII.

Published in:

Przeglad Pediatryczny, 2009, v. 39, n. 1, p. 50

By:

Kochański, Andrzej Maciej

Publication type:

Article

A mini-review and implementation model for using ataluren to treat nonsense mutation Duchenne muscular dystrophy.

Published in:

2019

By:

Landfeldt, Erik;
Sejersen, Thomas;
Tulinius, Már

Publication type:

journal article

A new way to regulate the NMJ.

Published in:

Nature Medicine, 2007, v. 13, n. 5, p. 538, doi. 10.1038/nm0507-538

By:

Davies, Kay E.;
Khurana, Tejvir S.

Publication type:

Article

Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology.

Published in:

Nature Medicine, 2006, v. 12, n. 2, p. 175, doi. 10.1038/nm1345

By:

Alter, Julia;
Fang Lou;
Rabinowitz, Adam;
HaiFang Yin;
Rosenfeld, Jeffrey;
Wilton, Steve D.;
Partridge, Terence A.;
Qi Long Lu

Publication type:

Article

Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy.

Published in:

Fetal & Pediatric Pathology, 2018, v. 37, n. 6, p. 418, doi. 10.1080/15513815.2018.1520944

By:

Fadiloglu, Erdem;
Ozten, Gonca;
Unal, Canan;
Talim, Beril;
Topaloglu, Haluk;
Beksac, Mehmet Sinan

Publication type:

Article

Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies.

Published in:

Cytogenetic & Genome Research, 2006, v. 112, n. 1/2, p. 170, doi. 10.1159/000087531

By:

Bhat, S. S.;
Schmidt, K. R.;
Ladd, S.;
Kim, K. C.;
Schwartz, C. E.;
Simensen, R. J.;
DuPont, R. J.;
Stevenson, R. E.;
Srivastava, A. K.

Publication type:

Article

Nitric oxide synthase in muscular dystrophies: a re-evaluation.

Published in:

Acta Neuropathologica, 2006, v. 111, n. 6, p. 579, doi. 10.1007/s00401-006-0069-5

By:

Buchwalow, Igor B.;
Minin, Evgeny A.;
Müller, Frank-Ulrich;
Lewin, Geertje;
Samoilova, Vera E.;
Schmitz, Wilhelm;
Wellner, Maren;
Hasselblatt, Martin;
Punkt, Karla;
Müller-Werdan, Ursula;
Demus, Uta;
Slezak, Jan;
Koehler, Gabriele;
Boecker, Werner

Publication type:

Article

Evolution of pathological changes in the gastrocnemius of the mdx mice correlate with utrophin and ß-dystroglycan expression.

Published in:

Acta Neuropathologica, 2004, v. 108, n. 5, p. 443, doi. 10.1007/s00401-004-0908-1

By:

Roma, Josep;
Munell, Francina;
Fargas, Arnau;
Roig, Manuel

Publication type:

Article

Hyperproliferation of synapses on spinal motor neurons of Duchenne muscular dystrophy and myotonic dystrophy patients.

Published in:

Acta Neuropathologica, 2003, v. 106, n. 6, p. 557, doi. 10.1007/s00401-003-0759-1

By:

Nagao, Masahiro;
Kato, Shuichi;
Hayashi, Hideaki;
Misawa, Hidemi

Publication type:

Article

Changes of skeletal muscle in young dystrophin-deficient cats: a morphological and morphometric study.

Published in:

Acta Neuropathologica, 2001, v. 101, n. 6, p. 591, doi. 10.1007/s004010000299

By:

Gaschen, Frédéric;
Burgunder, J.-M.

Publication type:

Article

Aciculin and its relation to dystrophin: immunocytochemical studies in human normal and Duchenne dystrophy quadriceps muscles.

Published in:

Acta Neuropathologica, 2000, v. 99, n. 6, p. 654, doi. 10.1007/s004010051176

By:

Wakayama, Yoshihiro;
Inoue, Masahiko;
Kojima, Hiroko;
Murahashi, Makoto;
Shibuya, Seiji;
Yamashita, Sumimasa;
Oniki, Hiroaki

Publication type:

Article

Asynchronous remodeling is a driver of failed regeneration in Duchenne muscular dystrophy.

Published in:

Journal of Cell Biology, 2014, v. 207, n. 1, p. 139, doi. 10.1083/jcb.201402079

By:

Dadgar, Sherry;
Zuyi Wang;
Johnston, Helen;
Akanchha Kesari;
Kanneboyina Nagaraju;
Yi-Wen Chen;
Hill, D. Ashley;
Partridge, Terence A.;
Mamta Giri;
Freishtat, Robert J.;
Nazarian, Javad;
Jianhua Xuan;
Yue Wang;
Hoffman, Eric P.

Publication type:

Article

Breakpoint junction features of seven DMD deletion mutations.

Published in:

Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0070-x

By:

Keegan, Niall P.;
Wilton, Steve D.;
Fletcher, Sue

Publication type:

Article

The value of respiratory muscle testing in a child with congenital muscular dystrophy.

Published in:

Respirology Case Reports, 2014, v. 2, n. 3, p. 95, doi. 10.1002/rcr2.61

By:

Khirani, Sonia;
Dabaj, Ivana;
Amaddeo, Alessandro;
Ramirez, Adriana;
Quijano-Roy, Susana;
Fauroux, Brigitte

Publication type:

Article

Perioperative considerations in Walker-Warburg syndrome.

Published in:

Clinical Case Reports, 2015, v. 3, n. 9, p. 744, doi. 10.1002/ccr3.334

By:

Valk, Madelous J.A.;
Loer, Stephan A.;
Schober, Patrick;
Dettwiler, Saskia

Publication type:

Article

Rigid Spine Syndrome among Children in Oman.

Published in:

Sultan Qaboos University Medical Journal, 2015, v. 15, n. 3, p. e364, doi. 10.18295/SQUMJ.2015.15.03.010

By:

Koul, Roshan;
Sankhla, Dilip;
Al-Jahdhami, Suad;
Mani, Renjith;
Rahim, Rana A.;
Al-Yaarubi, Saif;
Al-Kindy, Hussein;
Al-Thihli, Khalid;
Al-Futaisi, Amna

Publication type:

Article

Emphasizing parental choice on newborn screening.

Published in:

British Journal of Midwifery, 2005, v. 13, n. 3, p. 165, doi. 10.12968/bjom.2005.13.3.17637

By:

Parsons, Evelyn P.;
Moore, Cindy;
Israel, Janet;
Hood, Kerenza;
Clarke, Angus J.;
Bradley, Don M.

Publication type:

Article

In defense of myoblast transplantation research in preteens with Duchenne muscular dystrophy.

Published in:

2010

By:

Post, Stephen G.

Publication type:

Editorial

Juvenile polymyositis or paediatric muscular dystrophy: a detailed re-analysis of 13 cases.

Published in:

Histopathology, 2009, v. 55, n. 4, p. 452, doi. 10.1111/j.1365-2559.2009.03407.x

By:

D’Arcy, Colleen E.;
Ryan, Monique M.;
McLean, Catriona A.

Publication type:

Article

Muscle Fatigue during High-Intensity Exercise in Children.

Published in:

Sports Medicine, 2006, v. 36, n. 12, p. 1031, doi. 10.2165/00007256-200636120-00004

By:

Ratel, Sébastien;
Duché, Pascale;
William, Craig A.

Publication type:

Article

Inhibition of Glycogen Synthase Kinase-3β Attenuates Glucocorticoid-Induced Suppression of Myogenic Differentiation <i>In Vitro</i>.

Published in:

PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0105528

By:

Ma, Zhenyu;
Zhong, Zhigang;
Zheng, Zhenyang;
Shi, Xing-Ming;
Zhang, Weixi

Publication type:

Article

24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy.

Published in:

PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0052512

By:

Mazzone, Elena Stacy;
Pane, Marika;
Sormani, Maria Pia;
Scalise, Roberta;
Berardinelli, Angela;
Messina, Sonia;
Torrente, Yvan;
D'Amico, Adele;
Doglio, Luca;
Viggiano, Emanuela;
D'Ambrosio, Paola;
Cavallaro, Filippo;
Frosini, Silvia;
Bello, Luca;
Bonfiglio, Serena;
De Sanctis, Roberto;
Rolle, Enrica;
Bianco, Flaviana;
Magri, Francesca;
Rossi, Francesca

Publication type:

Article

Dystrophin Deficiency Compromises Force Production of the Extensor Carpi Ulnaris Muscle in the Canine Model of Duchenne Muscular Dystrophy.

Published in:

PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0044438

By:

Yang, Hsiao T.;
Jin-Hong Shin;
Hakim, Chady H.;
Xiufang Pan;
Terjung, Ronald L.;
Duan, Dongsheng;
Ervasti, James M.

Publication type:

Article

Myogenin Regulates Exercise Capacity but Is Dispensable for Skeletal Muscle Regeneration in Adult mdx Mice.

Published in:

PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0016184

By:

Meadows, Eric;
Flynn, Jesse M.;
Klein, William H.

Publication type:

Article

Polymers for Improving the In Vivo Transduction Efficiency of AAV2 Vectors.

Published in:

PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015576

By:

Moulay, Gilles;
Boutin, Sylvie;
Masurier, Carole;
Scherman, Daniel;
Kichler, Antoine

Publication type:

Article

Arginine Metabolism by Macrophages Promotes Cardiac and Muscle Fibrosis in mdx Muscular Dystrophy.

Published in:

PLoS ONE, 2010, v. 5, n. 5, p. 1, doi. 10.1371/journal.pone.0010763

By:

Wehling-Henricks, Michelle;
Jordan, Maria C.;
Gotoh, Tomomi;
Grody, Wayne W.;
Roos, Kenneth P.;
Tidball, James G.

Publication type:

Article

A Duchenne Muscular Dystrophy Gene Hot Spot Mutation in Dystrophin-Deficient Cavalier King Charles Spaniels Is Amenable to Exon 51 Skipping.

Published in:

PLoS ONE, 2010, v. 5, n. 1, p. 1, doi. 10.1371/journal.pone.0008647

By:

Walmsley, Gemma L.;
Arechavala-Gomeza, Virginia;
Fernandez-Fuente, Marta;
Burke, Margaret M.;
Nagel, Nicole;
Holder, Angela;
Stanley, Rachael;
Chandler, Kate;
Marks, Stanley L.;
Muntoni, Francesco;
Shelton, G. Diane;
Piercy, Richard J.

Publication type:

Article

Clinical Heterogeneity of Duchenne Muscular Dystrophy (DMD): Definition of Sub-Phenotypes and Predictive Criteria by Long-Term Follow-Up.

Published in:

PLoS ONE, 2009, v. 4, n. 2, p. 1, doi. 10.1371/journal.pone.0004347

By:

Desguerre, Isabelle;
Christov, Christo;
Mayer, Michele;
Zeller, Reinhard;
Becane, Henri-Marc;
Bastuji-Garin, Sylvie;
Leturcq, France;
Chiron, Catherine;
Chelly, Jamel;
Gherardi, Romain K.

Publication type:

Article

Troubling norms? Adults and teenagers with a life-limiting impairment in Denmark and England talk about their lives, support and future plans.

Published in:

European Journal of Special Needs Education, 2021, v. 36, n. 3, p. 329, doi. 10.1080/08856257.2020.1754545

By:

Hoskin, Janet

Publication type:

Article

Exon skipping with morpholino oligomers: new treatment option for cardiomyopathy in Duchenne muscular dystrophy?

Published in:

Cardiovascular Research, 2010, v. 85, n. 3, p. 409, doi. 10.1093/cvr/cvp397

By:

Bauer, Ralf;
Katus, Hugo A.;
Müller, Oliver J.

Publication type:

Article

Development and content validation of the Muscular Dystrophy Child Health Index of Life with Disabilities questionnaire for children with Duchenne muscular dystrophy.

Published in:

2019

By:

Propp, Roni;
McAdam, Laura;
Davis, Aileen M;
Salbach, Nancy M;
Weir, Shannon;
Encisa, Clarissa;
Narayanan, Unni G

Publication type:

journal article

Outcome measures in Duchenne muscular dystrophy: sensitivity to change, clinical meaningfulness, and implications for clinical trials.

Published in:

2018

By:

Domingos, Joana;
Muntoni, Francesco

Publication type:

journal article

Development and sensibility evaluation of the Muscular Dystrophy Child Health Index of Life with Disabilities questionnaire.

Published in:: Developmental Medicine & Child Neurology, 2017, v. 59, p. 121, doi. 10.1111/dmcn.70_13512
Publication type:: Article

Focus on the upper limb in Duchenne muscular dystrophy.

Published in:

2017

By:

Pangalila, Robert

Publication type:

journal article

Development of a patient-reported outcome measure for upper limb function in Duchenne muscular dystrophy: DMD Upper Limb PROM.

Published in:

2017

By:

Klingels, K;
Mayhew, A G;
Mazzone, E S;
Duong, T;
Decostre, V;
Werlauff, U;
Vroom, E;
Mercuri, E;
Goemans, N M;
Eagle, M;
De Groot, I;
Main, M;
Messina, S;
Campion, G;
Servais, L;
Van den Hauwe, M;
Es, E;
Pane, M;
Buccella, F;
Kuijer, J

Publication type:

journal article