Results 1 to 10 of about 2,312,065 (203)

Identification of reference microRNAs in skeletal muscle of a canine model of Duchenne muscular dystrophy [version 2; peer review: 2 approved]

Wellcome Open Research
Background Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease caused by mutations in the dystrophin gene. DE50-MD dogs are an animal model of DMD used as a final translational model for evaluation of promising treatments.
Richard J. Piercy, John C.W. Hildyard, Dominique O. Riddell, Dominic J. Wells, Rachel C.M. Harron   +4 more
doaj   +1 more source

Neuromuscular Disease

Journal of Pediatric Rehabilitation Medicine, 2016
Russell J, Butterfield, Nicholas E, Johnson   +1 more
openaire   +3 more sources

Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant?

Annals of Clinical and Translational Neurology, 2021
Wai Yan Yau, Zhongbo Chen, Roisin Sullivan, Jana Vandrovcova, Henry Houlden   +4 more
doaj   +1 more source

Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A

Annals of Clinical and Translational Neurology
Objective With potential therapies for many forms of Charcot‐Marie‐Tooth disease (CMT), responsive outcome measures are urgently needed for clinical trials.
Carolynne M. Doherty, Jasper M. Morrow, Riccardo Zuccarino, Paige Howard, Stephen Wastling, Menelaos Pipis, Nick Zafeiropoulos, Katherine J. Stephens, Tiffany Grider, Shawna M. E. Feely, Peggy Nopoulous, Mariola Skorupinska, Evelin Milev, Emma Nicolaisen, Magdalena Dudzeic, Amy McDowell, Nuran Dilek, Francesco Muntoni, Alexander M. Rossor, Sachit Shah, Matilde Laura, Tarek A. Yousry, Daniel Thedens, John Thornton, Michael E. Shy, Mary M. Reilly   +25 more
doaj   +1 more source

Rimegepant in airplane headache treatment: a case report

Journal of Medical Case Reports
Background Airplane headache is a rare condition first identified in 2004 and subsequently included in the International Classification of Headache Disorders (Headache Classification Committee of the International Headache Society in Cephalalgia 33:629 ...
Massimo Autunno, Marcella De Luca, Ludovica Ferraù, Carmelo Rodolico   +3 more
doaj   +1 more source

Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient

Acta Neuropathologica Communications, 2018
Sara Gibertini, Alessandra Ruggieri, Simona Saredi, Franco Salerno, Flavia Blasevich, Laura Napoli, Maurizio Moggio, Vincenzo Nigro, Lucia Morandi, Lorenzo Maggi, Marina Mora   +10 more
doaj   +1 more source

SELENON-related myopathy as a cause of acute respiratory failure in middle age: a case report

Journal of Medical Case Reports
Background SELENON-related myopathy is a rare autosomal recessive congenital neuromuscular disorder linked to defects in the selenoprotein N. The clinical onset typically occurs in infancy and axial weakness, rigid spine, and respiratory involvement are ...
Barbara Risi, Filomena Caria, Simona Damioli, Beatrice Labella, Gaetana Lanzi, Mattia Bugatti, Carla Baronchelli, Enrica Bertella, Giorgia Giovanelli, Lucia Ferullo, Emanuele Olivieri, Loris Poli, Alessandro Padovani, Massimiliano Filosto   +13 more
doaj   +1 more source

Neurobiological modulation with REAC technology: enhancing pain, depression, anxiety, stress, and quality of life in post-polio syndrome subjects

Scientific Reports
Post-polio syndrome (PPS) brings new challenges for polio survivors, including muscle decline, pain, depression, and diminished quality of life. This study explored the potential of REAC neuromodulatory treatments to ease pain, improve mood, and enhance ...
Jeyce Adrielly André Nogueira, Acary Souza Bulle Oliveira, Monalisa Pereira Motta, Alcione Aparecida Vieira de Souza Moscardi, Vanessa Manchim Favaro, Claudete Munhoz Teixeira, Amanda Orasmo Simcsik, Maria Clara Patrizi, Maria Salete Conde, Arianna Rinaldi, Vania Fontani, Salvatore Rinaldi   +11 more
doaj   +1 more source

From Variant Interpretation to Biomarker Translation: Multi-omics Integration in Inherited Neuromuscular Diseases. [PDF]

Hum Mutat
Zhang S, Lang X, Liu L.
europepmc   +1 more source

The Prevalence of Sleep-Disordered Breathing in Children With Neuromuscular Diseases. [PDF]

Cureus
Al-Naimi AR, Toma HM, Ibrahim K, Abushahin M, Abushahin A.   +4 more
europepmc   +1 more source