Results 41 to 50 of about 419,855 (353)

Huntington's disease: An immune perspective [PDF]

, 2011
Copyright © 2011 Annapurna Nayaketal. This article has been made available through the Brunel Open Access Publishing Fund.Huntington's disease (HD) is a progressive neurodegenerative disorder that is caused by abnormal expansion of CAG trinucleotide ...
Ansar, R, Bonifati, DM, Kishore, U, Nayak, A, Verma, SK   +4 more
core   +3 more sources

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Toward European harmonization of national myasthenia gravis registries: modified Delphi procedure-based expert consensus on collectable data

Orphanet Journal of Rare Diseases
Background Myasthenia gravis (MG) is a rare autoimmune disorder. Several new treatment concepts have emerged in recent years, but access to these treatments varies due to differing national reimbursement regulations, leading to disparities across Europe.
Abderhmane Slioui, Giulia Tammam, Fiammetta Vanoli, Adela Della Marina, Stanislav Vohanka, Nils Erik Gilhus, Isabella Moroni, Maria Isabel Leite, Fredrik Piehl, Carlo Antozzi, Jonathan Pini, Frauke Stascheit, Shahram Attarian, Ernestina Santos, Jan Verschuuren, Lou Canonge, Jeremy Garcia, Caroline Perriard, Elena Cortés-Vicente, Renato Mantegazza, Andreas Meisel, Sabrina Sacconi   +21 more
doaj   +1 more source

Results of the survey of the physicians opinion on medical rehabilitation organization of children in Russian federation regions

Журнал инфектологии, 2018
The purpose of the study: the study of expert opinions of specialists from different regions of the Russian Federation on the  organization of rehabilitation of children with diseases of the central  and/or peripheral nervous system, including pediatric ...
I. G. Samojlova
doaj   +1 more source

Bidirectional crosstalk between the peripheral nervous system and lymphoid tissues/organs

Frontiers in Immunology, 2023
The central nervous system (CNS) influences the immune system generally by regulating the systemic concentration of humoral substances (e.g., cortisol and epinephrine), whereas the peripheral nervous system (PNS) communicates specifically with the immune
Angela Boahen, Dailun Hu, Murray J. Adams, Philip K. Nicholls, Wayne K. Greene, Bin Ma   +5 more
doaj   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

Phenotyping Healthcare Use 2–3 Decades Before the First Multiple Sclerosis Demyelinating Event

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Phenotype hospital, physician, and emergency department (ED) visits by diagnoses and specialty up to 29 years pre‐multiple sclerosis (MS) onset versus a matched population without MS. Methods We identified people with MS (PwMS) using population‐based administrative data from Ontario, Canada (1991–2020).
Helen Tremlett, Karl Everett, Colleen J. Maxwell, Feng Zhu, Ayesha Asaf, Ping Li, Kyla A. McKay, Yinshan Zhao, Ruth Ann Marrie   +8 more
wiley   +1 more source

Psychosocial resources and psychopathology among persons with neuromuscular disorders during the COVID-19 pandemic

BMC Psychology
Background The COVID-19 pandemic substantially affected the lives of persons with inherited neuromuscular disorders (INMD), causing disruption in clinical and support services.
Silvia Sanzo’, Federica Tizzoni, Stefano C. Previtali, Angela Berardinelli, Maria Nobile, Massimo Molteni, Martina Manzoni, Arianna Tarabelloni, Annamaria Russo, Antonella Delle Fave, Maria Grazia D’Angelo   +10 more
doaj   +1 more source

MIND-BODY RESPONSE AND NEUROPHYSIOLOGICAL CHANGES DURING STRESS AND MEDITATION: CENTRAL ROLE OF HOMEOSTASIS [PDF]

, 2014
Stress profoundly impacts quality of life and may lead to various diseases and conditions. Understanding the underlying physiological and neurological processes that take place during stress and meditation techniques may be critical for effectively ...
Barnes, Vernon A., Crawford, Molly W., Ravinder, Jerath   +2 more
core  

Chronic Stress, Inflammation, and Colon Cancer: A CRH System-Driven Molecular Crosstalk. [PDF]

, 2019
Chronic stress is thought to be involved in the occurrence and progression of multiple diseases, via mechanisms that still remain largely unknown. Interestingly, key regulators of the stress response, such as members of the corticotropin-releasing ...
Baritaki, Stavroula, Chatzaki, Ekaterini, de Bree, Eelco, Pothoulakis, Charalabos   +3 more
core   +1 more source