Results 151 to 160 of about 116,069 (304)

TRIM Expression and Its Association With Disease Activity in Systemic Lupus Erythematosus

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with diverse manifestations, including rash, arthritis, and nephritis. Although autoantibodies are a key feature of SLE, their levels often poorly reflect disease severity, suggesting the involvement of additional contributing factors.
Ling‐Ying Lu, Ling‐Jung Yen, Hui‐Ling Hsia, Zi‐Xeng Weng, Chi‐Hsiang Chung, Paul Wei‐Che Hsu, Chih‐Wei Chiu, Wu‐Chien Chien, Tsung‐Hsien Chang   +8 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Clinical Outcome Assessments for Functional Performance in Spastic Paresis: Systematic Review, Critique, and Recommendations

Movement Disorders, EarlyView.
Abstract Background Spastic paresis, resulting from central nervous system lesions, significantly impairs functional performance. In the framework of the International Classification of Functioning, Disability, and Health, functional performance was defined as functioning at the activity level in relation to the impairment of body functions and ...
Martina Hoskovcova, Marjolaine Baude, Bo Biering‐Sørensen, Ota Gal, Mary P Galea, Jean‐Michel Gracies, Carmen Rodriguez‐Blazquez, Theodore Wein, Michelle Hyczy de Siqueira Tosin, Álvaro Sánchez‐Ferro, Tiago A Mestre, Matej Skorvanek, Robert Jech, The members of the MDS Clinical Outcome Assessments Scientific Evaluation Committee and MDS Spasticity Study Group   +13 more
wiley   +1 more source

Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric Study

Movement Disorders, EarlyView.
Abstract Background Although not confirmed, some studies have suggested that elevated homocysteine levels are common in patients with Huntington's disease (HD). Its clinical relevance remains unclear. Objectives We aimed to assess vitamin B and homocysteine levels in HD patients and explore the relationships among hyperhomocysteinemia, vitamin B ...
Salomé Puisieux, Elise Pourié, Céline Bonnet, Lucie Hopes, Solène Frismand, Myriam Bronner, Virginie Roth, Marion Wandzel, Natacha Sloboda, Laetitia Lambert, Abderrahim Oussalah, Amélia Julien, Irina Rotaru, Rosa‐Maria Guéant‐Rodriguez, Jean Louis Guéant, Carine Bossenmeyer‐Pourié, Mathilde Renaud   +16 more
wiley   +1 more source

Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1

Muscle &Nerve, EarlyView.
ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno, Mohammad Nazim, Ruchen Zhang, Paniz Farshadyeganeh, Mikako Ito, Bisei Ohkawara   +5 more
wiley   +1 more source

11 | Human immortalized myoblasts/induced pluripotent stem cell derived skeletal muscle model to investigate cystinosis myopathy

European Journal of Translational Myology
Cystinosis myopathy develops in cystinosis patients with CTNS mutations as the disease progresses despite cysteamine therapy or kidney transplantation. It presents as muscle weakness in distal, swallowing and respiratory muscles1. Muscle biopsy typically
Interuniversity Institute of Myology
doaj  

Statins promote muscle metabolic danger and NLRP3-mediated myopathy via lower protein-prenylation and YAP. [PDF]

Sci Adv
Robin N, Barra NG, Foley KP, Li YE, Tamrakar AK, Patoli D, Rebalka IA, Cree T, Bibby K, Nguyen K, Davis R, Chan DY, Duggan BM, Henriksbo BD, Borges ME, Kukje Zada D, Fang H, Marko DM, Gregorevic P, Watt KI, Mills RJ, Sweeney G, Hawke TJ, Py BF, Schertzer JD.   +24 more
europepmc   +1 more source

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles, Damien Sternberg, Marie‐Christine Nougues, Arnaud Isapof, Bruno Eymard, Stéphanie Bauché   +5 more
wiley   +1 more source

SAPHO Syndrome Presenting With Severe Inflammatory Back Pain (Sacroiliitis) and Rare Retinol Associated Myopathy in an Iraqi Adolescent Male: A Case Report and Literature Review. [PDF]

Clin Case Rep
Mahdi FJ, Al-Shammari AS, Hameed MM, Ahmed MS, Khalil I, Fahad ZS, Hasan AD, Jassim NA.   +7 more
europepmc   +1 more source

Sarcoplasmic body myopathy

, 2005
In 1980 a new hereditary myopathy with adult onset was described in a swedish family. The most characteristic feature of this myopathy was the sarcoplasmic inclusion bodies (SB), seen in the muscle biopsies.
Birgitta Hedberg (19495222)
core