Results 101 to 110 of about 57,426 (267)

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability [PDF]

, 2013
Nina Bögershausen, Nassim Shahrzad, Jessica X. Chong, Jürgen‐Christoph von Kleist-Retzow, Daniela Stanga, Yun Li, François P. Bernier, Catrina M. Loucks, Radu Wirth, Erik G. Puffenberger, Robert A. Hegele, Julia Schreml, Gabriel Lapointe, Katharina Keupp, Christopher L. Brett, Rebecca L. Anderson, Andreas Hahn, A. Micheil Innes, Oksana Suchowersky, Marilyn B. Mets, Gudrun Nürnberg, D. Ross McLeod, Hölger Thiele, Darrel Waggoner, Janine Altmüller, Kym M. Boycott, Benedikt Schoser, Peter Nürnberg, Carole Ober, Raoul Heller, Jillian S. Parboosingh, Bernd Wollnik, Michael Sacher, Ryan E. Lamont   +33 more
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The congenital muscular dystrophies

Annals of the Child Neurology Society
Background Congenital muscular dystrophies (CMDs) are genetically and clinically heterogeneous inherited conditions. Onset is typically within the first year of life.
Haluk Topaloğlu, Bita Poorshiri
doaj   +1 more source

From proteins to genes: immunoanalysis in the diagnosis of muscular dystrophies

Skeletal Muscle, 2011
Muscular dystrophies are a large heterogeneous group of inherited diseases that cause progressive muscle weakness and permanent muscle damage. Very few muscular dystrophies show sufficient specific clinical features to allow a definite diagnosis. Because
Barresi Rita
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Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1α Acetylation [PDF]

, 2016
Sarah Pambianco, Matteo Giovarelli, Cristiana Perrotta, Silvia Zecchini, Davide Cervia, Ilaria Di Renzo, Claudia Moscheni, Michela Ripolone, Raffaella Violano, Maurizio Moggio, Maria Teresa Bassi, Prem Puri, Lucia Latella, Emilio Clementi, Clara De Palma   +14 more
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Thrombospondin-4 deletion does not exacerbate muscular dystrophy in β-sarcoglycan-deficient and laminin α2 chain-deficient mice

Scientific Reports
Muscular dystrophy is a group of genetic disorders that lead to muscle wasting and loss of muscle function. Identifying genetic modifiers that alleviate symptoms or enhance the severity of a primary disease helps to understand mechanisms behind disease ...
Paula Zarén, Kinga I. Gawlik
doaj   +1 more source

Muscular dystrophies: key elements for everyday diagnosis and management

Cardiogenetics, 2013
Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy, associated with progressive weakness. Weakness may be noted at birth or develop in late adult life.
Alberto Palladino, Gerardo Nigro, Luisa Politano   +2 more
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Cardiomyopathies and Arrythmias in Neuromuscular Diseases

Cardiogenetics
Neuromuscular diseases (NMDs) encompass various hereditary conditions affecting motor neurons, the neuromuscular junction, and skeletal muscles. These disorders are characterized by progressive muscle weakness and can manifest at different stages of life,
Giuseppe Sgarito, Calogero Volpe, Stefano Bardari, Raimondo Calvanese, Paolo China, Giosuè Mascioli, Martina Nesti, Carlo Pignalberi, Manlio Cipriani, Massimo Zecchin   +9 more
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Systemically Administered Homing Peptide Targets Dystrophic Lesions and Delivers Transforming Growth Factor-β (TGFβ) Inhibitor to Attenuate Murine Muscular Dystrophy Pathology [PDF]

, 2021
Aqsa Iqbal, Ulrike May, Stuart Prince, Tero A.H. Järvinen, Ahlke Heydemann   +4 more
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Growth Hormone Increases Bone Toughness and Decreases Muscle Inflammation in Glucocorticoid-Treated Mdx Mice, Model of Duchenne Muscular Dystrophy [PDF]

, 2019
Sung-Hee Yoon, Marc D. Grynpas, Jane Mitchell   +2 more
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Human Galectin-1 Improves Sarcolemma Stability and Muscle Vascularization in the mdx Mouse Model of Duchenne Muscular Dystrophy [PDF]

, 2019
Ryan D. Wuebbles, Vivian Rodriguez Cruz, Pam Van Ry, Pamela Barraza‐Flores, Paul Duffield Brewer, Peter L. Jones, Dean J. Burkin   +6 more
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