Results 211 to 220 of about 9,606,287 (373)

Intravenous immunoglobulin for neuromuscular disease: costs, benefits and reimbursement [PDF]

, 2009
John W. Griffin, Richard AC Hughes
openalex   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

Neuromuscular Diseases [PDF]

Journal of Clinical Pathology, 1982
openaire   +3 more sources

Integrative Transcriptomic and Network-Based Analysis of Neuromuscular Diseases. [PDF]

Int J Mol Sci
García-Criado F, Hurtado-García L, Rojano E, Esteban-Martos Á, Pérez-García J, Seoane P, Ranea JAG.   +6 more
europepmc   +1 more source

Rare Case with Pathogenic Variant in DHX16 Gene Causing Neuromuscular Disease and Oculomotor Anomalies [PDF]

Stefania Kalampokini, Dimitrios G. Goulis, Georgia Pepe, Stavrenia Koukoula, Antonis Frontistis, Maria Moschou, Marianthi Arnaoutoglou, Vasileios Papaliagkas, Vasilios Κ. Kimiskidis   +8 more
openalex   +1 more source

Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6

Annals of Neurology, EarlyView.
Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang, Taylor L. Charron, Min Fu, Miranda Dunn, Deborah M. Jones, Praveen Kumar, Satoshi Ishishita, Allan‐Hermann Pool, Ashwinikumar Kulkarni, Genevieve Konopka, Vikram G. Shakkottai   +10 more
wiley   +1 more source

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe. [PDF]

Brain
Fernández-Eulate G, Gitiaux C, Thiele S, Jungbluth H, Potulska-Chromik A, Marini-Bettolo C, Davion JB, Morís G, Gallardo E, Olivé M, de Fuenmayor-Fernández de la Hoz CP, Audic F, Isapof A, Walter MC, Angelini C, Bertini E, Schara-Schmidt U, Claeys KG, Dohrn MF, Dembele M, Fer F, Brochier G, Evangelista T, Kostera-Pruszczyk A, Attarian S, Straub V, Domínguez-González C, Vissing J, Richard P, Metay C, Khraiche D, Wahbi K, Stojkovic T.   +32 more
europepmc   +1 more source

Modelling Neuromuscular Diseases in the Age of Precision Medicine [PDF]

, 2020
Alfina A. Speciale, Ruth Ellerington, Thomas Goedert, Carlo Rinaldi   +3 more
openalex   +1 more source

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association.

Circulation, 2017
B. Feingold, W. Mahle, S. Auerbach, P. Clemens, A. Domenighetti, J. Jefferies, D. Judge, A. Lal, L. Markham, W. Parks, T. Tsuda, Paul J. Wang, S. Yoo   +12 more
semanticscholar   +1 more source

Skeletal Muscle Biomarkers of Amyotrophic Lateral Sclerosis: A Large‐Scale, Multi‐Cohort Proteomic Study

Annals of Neurology, EarlyView.
Objective Biomarkers with clear contexts of use are important tools for amyotrophic lateral sclerosis (ALS) therapy development. Understanding their longitudinal trajectory in the untreated state is key to their use as potential markers of pharmacodynamic response.
Oleksandr Dergai, Joanne Wuu, Magdalena Koziczak‐Holbro, Andrea Malaspina, Volkan Granit, Jessica P. Hernandez, Anne Cooley, Ruchika Sachdev, Lili Yu, Michael Bidinosti, Ludivine Flotte, Mark Nash, Lori L. Jennings, James D. Berry, Lucie I. Bruijn, Sophie Brachat, Michael Benatar   +16 more
wiley   +1 more source