Results 51 to 60 of about 1,270,049 (189)

Mitochondrial Dysfunction in Repeat Expansion Diseases

Antioxidants, 2023
Repeat expansion diseases are a group of neuromuscular and neurodegenerative disorders characterized by expansions of several successive repeated DNA sequences. Currently, more than 50 repeat expansion diseases have been described.
Alberto Giménez-Bejarano, Eva Alegre-Cortés, Sokhna M. S. Yakhine-Diop, Patricia Gómez-Suaga, José M. Fuentes   +4 more
doaj   +1 more source

Narcolepsy and rapid eye movement sleep

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini, Lucie Barateau, Fabio Pizza, Giuseppe Plazzi, Yves Dauvilliers   +4 more
wiley   +1 more source

The Myotonic Plot Thickens: Electrical Myotonia in Antimuscle-Specific Kinase Myasthenia Gravis

Case Reports in Neurological Medicine, 2015
Electrical myotonia is known to occur in a number of inherited and acquired disorders including myotonic dystrophies, channelopathies, and metabolic, toxic, and inflammatory myopathies.
Marcus Magnussen, Ioannis Karakis, Taylor B. Harrison   +2 more
doaj   +1 more source

Regression of lumbar disk herniation

Неврология, нейропсихиатрия, психосоматика, 2015
Compression of the spinal nerve root, giving rise to pain and sensory and motor disorders in the area of its innervation is the most vivid manifestation of herniated intervertebral disk.
G. Yu Evzikov, A. I. Isaikin, A. V. Kavelina, E. V. Shashkova, N. N. Alipbekov   +4 more
doaj   +1 more source

Advanced Conduction Disease After Incident Heart Failure in Myotonic Dystrophy Type 1

Pacing and Clinical Electrophysiology, EarlyView.
Central Figure. Advanced Conduction Disease After Incident HF in Myotonic Dystrophy Type 1. ABSTRACT Background Myotonic dystrophy type 1 (DM1) is associated with progressive cardiac conduction disease, heart failure (HF) and increased mortality. However, the association of incident HF with conduction disease and survival in DM1 is not well defined ...
Isadora Guarino, Lauren Elman, Gregory Supple, Saman Nazarian   +3 more
wiley   +1 more source

Senolytics and exercise: Dual modalities for rejuvenating muscle

The Journal of Physiology, EarlyView.
Abstract figure legend The role of senolytics on the heart and skeletal muscle. Senescent cell burden increases with ageing, disuse and disease. The senolytics dasatinib+quercetin (D+Q), navitoclax and fisetin, as well as exercise, eliminate senescent cells, reducing senescent cell burden and their senescence‐associated secretory phenotype (SASP ...
Zeynep Elif Yesilyurt‐Dirican, Ce Qi, Uchenna Okpechi, Maya Strand Ford, Georgina M. Ellison‐Hughes   +4 more
wiley   +1 more source

Schwartz-Jampel Syndrome Type 1: Compound Heterozygosity of Two Novel Variants

JCRPE
Schwartz-Jampel syndrome (SJS) type 1 (OMIM; #255800), a rare cause of skeletal dysplasia, is characterized by myotonic myopathy, chondrodystrophy, short stature, facial and eye abnormalities. SJS type 1 develops due to variations in the HSPG2 gene which
Fatma Güliz Atmaca, Özlem Akgün Doğan, Büşra Kutlubay, Heves Kırmızıbekmez   +3 more
doaj   +1 more source

Calcitriol increases MBNL1 expression and alleviates myotonic dystrophy phenotypes in HSALR mouse models

Journal of Translational Medicine, 2022
Background Myotonic dystrophy type 1 (DM1), one of the most common forms of adult-onset muscular dystrophy, is caused by abnormally expanded CTG repeats in the 3′ untranslated region of the DMPK gene.
Kun Huang, Dan-Dan Wang, Wen-Bao Hu, Wei-Qian Zeng, Xia Xu, Qiu-Xiang Li, Fang-Fang Bi, Huan Yang, Jian Qiu   +8 more
doaj   +1 more source

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

Annals of Neurology, Volume 100, Issue 4, Page 850-866, October 2026.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto, Michael Bonomo, Brianna S. Nelthrope, Benjamin D. Carr, Emma Palmer, Mariana Sierra, Ilkim Erturk, David Peppercorn, Eleonor Cox, Tiare K. Vasconcellos, Henry L. Paulson, Hannah K. Shorrock, Sharan R. Srinivasan   +12 more
wiley   +1 more source

Geographical distribution of eight neuromuscular disorders in the Netherlands based on a nationwide registry

Rare
Neuromuscular disorders are a very heterogeneous group of diseases and comprise a large number of patients. Epidemiological key figures on incidence, prevalence and mortality serve as basic information for individualised and public health care and ...
Johanna C.W. Deenen, André L.M. Verbeek, Pieter A. van Doorn, Catharina G. Faber, Anneke J. van der Kooi, Nicolette C. Notermans, Jan J.G.M. Verschuuren, Baziel G.M. van Engelen, Nicol C. Voermans   +8 more
doaj   +1 more source