Results 141 to 150 of about 362,296 (275)

Exploring Desmin as a Potential Modifier in Duchenne Muscular Dystrophy-Associated Cardiomyopathy. [PDF]

Acta Physiol (Oxf)
Guennec BE, Hovhannisyan Y, Revet G, Polat S, Hassani M, Mougenot N, Barthelemy I, Blot S, Cieniewski-Bernard C, Ferry A, Kordeli E, Li Z, Agbulut O.   +12 more
europepmc   +1 more source

Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder

Developmental Medicine &Child Neurology, EarlyView.
In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo, Fleur Vansenne, Jessika F. van Hoorn, Marina A. J. Tijssen, Dineke S. Verbeek, Deborah A. Sival   +5 more
wiley   +1 more source

Height, weight, and body mass index trajectories and their correlation with functional outcome assessments in boys with Duchenne muscular dystrophy

Developmental Medicine &Child Neurology, EarlyView.
The analysis of height, weight, and BMI z‐score trajectories in boys with DMD from the FOR‐DMD study showed that higher baseline height was associated with slower subsequent growth, and older age with greater weight gain after glucocorticoid initiation.
Marianela Schiava, Utkarsh J. Dang, Claire Wood, Sze Choong Wong, Leanne M. Ward, Robert Muni Lofra, Anna Mayhew, William B. Martens, Stephanie Gregory, Robert C. Griggs, Michela Guglieri, on behalf of the FOR‐DMD Muscle Study Group, Adnan Manzur, Amos Rachel, Andrea Gangfuss, Anne Marie Childs, Ashutosh Kumar, Barbara E. Herr, Basil T. Darras, Chris Speed, Craig Campbell, Craig M. McDonald, Ekkehard Wilichowski, Elaine McColl, Elena Pegoraro, Emma Ciafaloni, Erik K. Henricson, Federica Ricci, Gian Luca Vita, Giovanni Baranello, Giuseppe Vita, Helen Roper, Hugh J. McMillan, Iain A. Horrocks, Imelda Hughes, James F. Howard, Janbernd Kirschner, Jay J. Han, Jean K. Mah, Jeffrey M. Statland, Jennifer Wilkinson, Kate Bushby, Kathleen O’Reardon, Kevin M. Flanigan, Kimberly A. Hart, Leslie Morrison, Lorenzo Maggi, Luca Bello, Maja von der Hagen, Mary W. Brown, Mathula Thangarajh, Matthew Wicklund, Michael P. McDermott, Michelle Eagle, Monika Krzesniak‐Swinarska, Nancy L. Kuntz, Nanette Joyce, Perry B. Shieh, Peter B. Kang, Rabi Tawil, Richard J. Barohn, Richard S. Finkel, Russell J. Butterfield, Stefan Spinty, Taeun Chang, Tiziana E. Mongini, Tracey Willis, Ulrike Schara‐Schmidt, Volker Straub, W. Bryan Burnette, Wendy M. King, Zoya Alhaswani   +71 more
wiley   +1 more source

P643: Unveiling noncoding DMD variants: Synergizing RNA sequencing and DNA sequencing for enhanced molecular diagnosis

Genetics in Medicine Open
Yinghong Pan, Fen Guo, Zeqiang Ma, Babi Ramesh Reddy Nallamilli, Ruby Liu, Kayla Quirin, Ann Martin, Madhuri Hegde   +7 more
doaj   +1 more source

MyomiRs Expression in Limb Girdle Muscular Dystrophy. [PDF]

IUBMB Life
Breveglieri G, Altieri MT, Rodia MT, Costa R, Frabetti F, Cenacchi G, Sabbioni G, Borgatti M.   +7 more
europepmc   +1 more source

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello, The Language and Social Communication in SMA working group, Harriet Weststrate, Emily Barritt, Laura Antonaci, Daniela Leone, Concetta Palermo, Pinki Munot, Adnan Manzur   +19 more
wiley   +1 more source

Insights into the heterogeneity of oculopharyngeal muscular dystrophy. [PDF]

Neurogenetics
Kekou K, Papadopoulos C, Svingou M, Chrysanthou-Piterou M, Nitsa E, Veltra D, Marinakis N, Tilemis FN, Dimitrios P, Arnaoutoglou M, Moschou M, Xirou S, Bakirtzis C, Tsivgoulis G, Papadimas GK, Sofocleous C.   +15 more
europepmc   +1 more source

Genetic strategies for therapy of Duchenne muscular dystrophy. [PDF]

Mol Ther Nucleic Acids
Łoboda A, Chamberlain JS, Dulak J.
europepmc   +1 more source

Systemic AAV Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy

Molecular Therapy, 2018
D. Duan
semanticscholar   +1 more source

Epicardial Adipose Tissue in Duchenne Muscular Dystrophy Cardiomyopathy. [PDF]

J Am Heart Assoc
Greiner E, Miles KG, Gao Z, Lang SM, Ryan TD, Ollberding NJ, Mantell BS, Rutter MM, Tian C, Villa CR.   +9 more
europepmc   +1 more source