Results 21 to 30 of about 73,071 (237)

Genetic modifiers of ambulation in the cooperative international Neuromuscular Research Group Duchenne natural history study [PDF]

, 2015
OBJECTIVE: We studied the effects of LTBP4 and SPP1 polymorphisms on age at loss of ambulation (LoA) in a multiethnic Duchenne muscular dystrophy (DMD) cohort.
Andreone, Luz, Bello, Luca, Cnaan, Avital, Cooperative International Neuromuscular Research Group Investigators, Dubrovsky, Alberto, Duong, Tina, Gordish Dressman, Heather, Henricson, Erik K., Hoffman, Eric P., Kesari, Akanchha, McDonald, Craig M., Morgenroth, Lauren P., Pegoraro, Elena, Punetha, Jaya   +13 more
core   +1 more source

Repurposing Dantrolene for Long-Term Combination Therapy to Potentiate Antisense-Mediated DMD Exon Skipping in the mdx Mouse

Molecular Therapy: Nucleic Acids, 2018
Duchenne muscular dystrophy (DMD) is caused by mutations in DMD, resulting in loss of dystrophin, which is essential to muscle health. DMD “exon skipping” uses anti-sense oligo-nucleotides (AONs) to force specific exon exclusion during mRNA processing to
Derek W. Wang, Ekaterina I. Mokhonova, Genevieve C. Kendall, Diana Becerra, Yalda B. Naeini, Rita M. Cantor, Melissa J. Spencer, Stanley F. Nelson, M. Carrie Miceli   +8 more
doaj   +1 more source

Gigantic Stomach: A Rare Manifestation of Duchenne Muscular Dystrophy [PDF]

, 2019
Duchenne muscular dystrophy (DMD) is characterized by degeneration and atrophy of skeletal, cardiac, and smooth muscles after a latent period of apparently normal development and function. The gastrointestinal manifestations start in the second decade of
Dhaliwal, Amaninder, Dhindsa, Banreet S., Hassen, Getaw W., Madiraju, Sarvani, Rochling, Fedja A.   +4 more
core   +2 more sources

Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment? [PDF]

PLoS ONE, 2018
This study aimed at comparing implicit sequence learning in individuals affected by Duchenne Muscular Dystrophy without intellectual disability and age-matched typically developing children.
Stefano Vicari, Giorgia Piccini, Eugenio Mercuri, Roberta Battini, Daniela Chieffo, Sara Bulgheroni, Chiara Pecini, Simona Lucibello, Sara Lenzi, Federica Moriconi, Marika Pane, Adele D'Amico, Guja Astrea, Giovanni Baranello, Daria Riva, Giovanni Cioni, Paolo Alfieri   +16 more
doaj   +1 more source

Rehabilitation interventions for foot drop in neuromuscular disease [PDF]

, 2007
"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Disler, Peter B., Sackley, Catherine, Turner-Stokes, Lynne, Wade, Derick T.   +3 more
core   +1 more source

Early detection of left ventricular involvement in patients with Duchenne’s and Becker’s muscular dystrophy

Al-Azhar Assiut Medical Journal, 2019
Background Patients with Duchenne muscular dystrophy (DMD) and Becker’s muscular dystrophy (BMD) may have asymptomatic cardiac involvement for years before the development of dilated cardiomyopathy and even showed normal conventional echocardiographic ...
Shaimaa A Habib, Mohie El Din T Mohamed
doaj   +1 more source

Global longitudinal strain detects subtle left ventricular systolic dysfunction in Duchenne muscular dystrophy patients and carriers

The Egyptian Heart Journal, 2021
Background With the continuous improvement of the respiratory care of Duchenne muscular dystrophy patients, cardiac manifestations (heart failure and arrhythmias) become the leading causes of morbidity and mortality.
Mahmoud Shehta, Mona Mostafa Rayan, Nagia Aly Fahmy, Ahmed Onsy, Islam Bastawy   +4 more
doaj   +1 more source

The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. [PDF]

, 2013
IntroductionDuchenne muscular dystrophy (DMD) subjects ≥5 years with nonsense mutations were followed for 48 weeks in a multicenter, randomized, double-blind, placebo-controlled trial of ataluren.
Abresch, R Ted, Barth, Jay, Eagle, Michelle, Elfring, Gary, Florence, Julaine M, Gappmaier, Eduard, Glanzman, Allan M, Henricson, Erik K, McDonald, Craig M, Peltz, Stuart, PTC124-GD-007-DMD Study Group, Reha, Allen, Spiegel, Robert   +12 more
core   +2 more sources

Are mice good models for human neuromuscular disease? Comparing muscle excursions in walking between mice and humans [PDF]

, 2017
The mouse is one of the most widely used animal models to study neuromuscular diseases and test new therapeutic strategies. However, findings from successful pre-clinical studies using mouse models frequently fail to translate to humans due to various ...
A De Luca, A Rajagopal, A Soman, AA Biewener, AA Biewener, AC Ludolph, AEH Emery, AL Camp, AV Birn-Jeffery, BH Wokke, BJ Petrof, C Pastoret, C Webster, CM Consolino, CM Eng, DM Escolar, E Azizi, E Mok, EK Moo, EM Arnold, EM Arnold, EM Arnold, FA Jenkins, FE Zajac, GM Buyse, GT Carter, H Radley-Crabb, H Stedman, HB van der Worp, HM Hsieh-Li, IG Kirkinezos, J Manning, JA Granchelli, JA Vilensky, JH Veldink, JJ Kaczor, JK Mah, JN Kornegay, JN Kornegay, JP Charles, JP Charles, JR Chamberlain, JW Carnwath, JW McGreevy, KA Clarke, KN An, L Xu, LM Ittner, M Benatar, M Bodor, M Millard, MD Grounds, MD Klein Horsman, ME Gurney, ME Llewellyn, MP Kadaba, N Alexander, N Serradj, NP Whitehead, P DeVita, P Moens, P Sicinski, R Burdi, R Willmann, R Willmann, RH Miller, RW Burgess, SL Delp, SL Delp, SR Ward, SS Blemker, SV Brooks, T Akay, TA McMahon, TA Partridge, TS Buchanan, V Brussee, VC Henderson, X Chen, X Chen, X Hu, ZJ Domire   +81 more
core   +3 more sources

The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype [PDF]

, 2016
Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced.
BOZZONI, Irene, Briganti, F, LEGNINI, IVANO, MARTONE, Julie, MORLANDO, MARIANGELA, Picillo, E, Politano, L, STHANDIER, Olga Elena   +7 more
core   +2 more sources