Results 71 to 80 of about 1,587,143 (318)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Basic requirements to establish a neuromuscular laboratory

Indian Journal of Pathology and Microbiology, 2022
Histopathological analysis of muscle biopsy is a prerequisite in the evaluation of neuromuscular disorders, particularly inflammatory myopathies, metabolic myopathies, congenital myopathies, muscular dystrophies and differentiating myopathies and ...
Bevinahalli N Nandeesh, Gayathri Narayanappa, T C Yasha   +2 more
doaj   +1 more source

Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen, Jing Zhang, Xinyue Zhou, Xiaoxiao Yu, Haodong Shang, Shufan Chen, Lulu Zhen, Jinru Wu, Guanlian Hu, Xiaoyan Zhu, Zhan Sun, Yiren Wang, Jiahui Wang, Jie Lv, Xue Zhao, Yingna Zhang, Wei Guo, Ying Peng, Feng Gao   +18 more
wiley   +1 more source

DISABILITY IN PATIENTS WITH IDIOPATHIC INFLAMMATORY MYOPATHIES [PDF]

Archives of the Balkan Medical Union, 2019
Introduction. Idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of disorders, characterized by chronic muscle weakness, low muscle endurance and by the presence of inflammatory cell infiltrates in muscle tissue, with organ damage and ...
Natalia LOGHIN-OPREA, Snejana VETRILA, Lucia MAZUR-NICORICI, Virginia SALARU, Victoria SADOVICI-BOBEICA, Minodora MAZUR   +5 more
doaj   +1 more source

Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan, John R. Mills, Paulina Vargas, Naveen K. Paramasivan, Connie E. Lesnick, Eati Basal, Surendra Dasari, James P. Fryer, Shannon R. Hinson, Joseph Laporta, Amy Espinal, Dennis Fitzgerald, Carolina Garcia, Anna E. Morenkova, Paola Pergami, Anna Shah, Andrew Knight, Reghann LaFrance Corey, Vanda A. Lennon, Anastasia Zekeridou, Sean J. Pittock, Divyanshu Dubey, Andrew McKeon   +22 more
wiley   +1 more source

Concentric macro EMG role in electrodiagnostic evaluation of inflammatory myopathies

European Journal of Translational Myology
Background: Inflammatory myopathies (IM) encompass a diverse group of systemic autoimmune muscle disorders, not easy to diagnose. Concentric-macro EMG is supposed to reflect electrical activity of the entire motor unit.
Eman ElZamarany, Ayat Allah Farouk, Lamia Afifi, Sandra Ahmed, Eman Ashraf, Eman Attia, Marwa Shalaby   +6 more
doaj   +1 more source

Myositis mimics

Indian Journal of Rheumatology, 2021
Proximal muscle weakness in children, as well as adults, can be the presenting feature of a wide range of diseases including but not limited to the idiopathic inflammatory myopathies, muscle dystrophies, metabolic, endocrine, and drug-induced myopathies.
Sujata Ganguly, Rudrarpan Chatterjee, Abhishek Zanwar, Latika Gupta   +3 more
doaj   +1 more source

The Role of C/EBP-Homologous Protein in Idiopathic Inflammatory Myopathies. [PDF]

J Cell Mol Med
ABSTRACT The Idiopathic Inflammatory Myopathies (IIMs) are a group of autoimmune disorders characterised by persistent muscle inflammation and diverse clinical manifestations. Common symptoms include muscle weakness, myalgia, and elevated serum creatine kinase levels. Recent findings highlight the relevance of muscle fibre necrosis in IIMs.
Sciacco M, Ciscato P, Bertolasi L, Guttuso M, Corti S, Mattinzoli D, Ikeata M, Castellano G, Comi GP, Zanotti S.   +9 more
europepmc   +2 more sources

Polimiosite : investigação clínica em duas irmãs [PDF]

, 2002
We present an investigation of a case of polymyositis affecting two sisters of one same parenthood. Their cases have been documented for almost two decades, being investigated by means of a diagnostic protocol which combined clinical findings as well as ...
Bluthner M, Bohan A, Bohan A, Bruno Rodrigues Veloso Costa, Dalakas MC, Dalakas MC, Garlepp MJ, Garlepp MJ, Ge Q, Hilário, MOE, Hokezu Y, Lewkonia RM, Margô Gomes de Oliveira Karnikowski, Matsui K, Miller FW, Miller FW, Oliveira HA, Oscar Francisco Sanchez Osella, Otávio de Tolêdo Nóbrega, Plotz PH, Rider LG, Scola RH   +21 more
core   +4 more sources

Trends in Dermato‐polymyositis Mortality, 1999‐2022: A Nationwide Population‐based Study, United States

Arthritis Care &Research, Accepted Article.
Objective We evaluated trends in dermato‐polymyositis (DPM) mortality relative to all‐cause mortality in the United States, 1999‐2022. Methods We used the Center for Disease Control and Prevention's databases (Multiple Causes of Death for 1999‐2020 and Provisional Mortality Statistics for 2021 and 2022) to obtain death counts for DPM and non‐DPM (all ...
Elizabeth Matz, Ram R. Singh
wiley   +1 more source