Results 81 to 90 of about 9,662,184 (369)

An ex vivo gene therapy approach to treat muscular dystrophy using inducible pluripotent stem cells. [PDF]

, 2013
Duchenne muscular dystrophy is a progressive and incurable neuromuscular disease caused by genetic and biochemical defects of the dystrophin-glycoprotein complex.
Borges, Luciene, Chamberlain, Jeffrey S, Darabi, Radbod, Ervasti, James M, Filareto, Antonio, Iacovino, Michelina, Kyba, Michael, Mayerhofer, Timothy, McIvor, R Scott, Parker, Sarah, Perlingeiro, Rita CR, Schaaf, Tory   +11 more
core   +2 more sources

Olink Proteomics Analysis Reveals Heterogeneous Responses to FcRn Blockade in Anti‐AChR Antibody‐Positive Myasthenia Gravis: FGF‐19 as a Novel Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to systematically observe the clinical manifestations, immune cell subsets, and dynamic changes in serological indicators in patients with myasthenia gravis (MG) before and after efgartigimod (EFG) treatment. Methods We analyzed the baseline data, laboratory parameters, and lymphocyte subset proportions in MG ...
Tiancheng Luo, Deyou Peng, Zhouao Zhang, Mingjin Yang, Xinyan Guo, Tianyu Ma, Xiaoyu Huang, Mingming Xu, Linlin Fu, Yong Zhang   +9 more
wiley   +1 more source

Animal models of immune-mediated demyelinating polyneuropathies

Autoimmunity
Immune-mediated demyelinating polyneuropathies (IMDPs) are rare disorders in which dysregulated adaptive immune responses cause peripheral nerve demyelinating inflammation and axonal injury in susceptible individuals.
Eroboghene E. Ubogu
doaj   +1 more source

Initial neuromuscular performance in older women influences response to explosive resistance training [PDF]

, 2009
The purpose of the study was to identify both demographic and neuromuscular traits that characterize successful or unsuccessful adaptation to resistance training in older women.
LaRoche, Dain P.
core   +1 more source

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis. [PDF]

, 2015
A previous study showed that, in carriers of the apolipoprotein E (APOE) genotype ε3/ε3 or ε3/ε4, the presence of a very long (VL) polyT repeat allele in "translocase of outer mitochondrial membrane 40" (TOMM40) was less frequent in patients with ...
Barohn, R.J., Bettencourt, C., Brady, S., De Bleecker, J., De Paepe, B., Dimachkie, M.M., Fox, Z., Gang, Q., Hanna, M.G., Healy, E., Hilton-Jones, D., Holton, J.L., Houlden, H., Machado, P.M., Mantegazza, R., Mastaglia, F., Moggio, M., Mora, M., Needham, M., Parton, M., Ripolone, M., Shaibani, A., Shieh, P.B., Violano, R., Zanoteli, E., Zanotti, S.   +25 more
core   +1 more source

Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew, Maryam Kargaran, Maik Rothe, Andreas Deistung, Dietrich Stoevesandt, Walter A. Wohlgemuth, David Strube, Thomas Kendzierski, Anna Katharina Kölsch, Maurits Gerhard Abraham Heuschen, Markus Otto, Alexander Mensch   +11 more
wiley   +1 more source

Clinical analysis of 155 patients with Duchenne muscular dystrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2015
Objective To investigate the clinical manifestations and laboratory examinations of Duchenne muscular dystrophy (DMD) patients and evaluate the principle of intermittent intravenous combined with oral glucocorticoid therapy.
Qi BING, Jing HU, Zhe ZHAO, Hong-rui SHEN, Na LI   +4 more
doaj  

Characterising PMP22-Proximal Partners in a Schwann Cell Model of Charcot–Marie–Tooth Disease Type1A

Biology
Charcot–Marie–Tooth disease type 1A (CMT1A) is a hereditary condition caused by the duplication of the PMP22 gene. Overexpression of peripheral myelin protein 22 in Schwann cells leads to myelin sheath defects and axonal loss.
Ian Holt, Nicholas Emery, Monte A. Gates, Sharon J. Brown, Sally L. Shirran, Heidi R. Fuller   +5 more
doaj   +1 more source

Intravenous immunoglobulin and intravenous methylprednisolone as optimal induction treatment in chronic inflammatory demyelinating polyradiculoneuropathy: protocol of an international, randomised, double-blind, placebo-controlled trial (OPTIC)

Trials, 2021
Background International guidelines recommend either intravenous immunoglobulin (IVIg) or corticosteroids as first-line treatment for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).
S. R. M. Bus, L. Zambreanu, A. Abbas, Y. A. Rajabally, R. D. M. Hadden, R. J. de Haan, C. A. J. M. de Borgie, M. P. Lunn, I. N. van Schaik, F. Eftimov, on behalf of the OPTIC study group   +10 more
doaj   +1 more source

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
core   +1 more source