Results 71 to 80 of about 2,312,065 (203)

Clinical and functional studies of autoimmune disorders of neuromuscular transmission [PDF]

, 2015
Inherited and acquired disorders of the neuromuscular junction are an important cause of muscle weakness and fatigability. In this thesis I focus on the autoimmune disorders of neuromuscular transmission.
Spillane, J
core  

Living with Dysphagia: A Survey Exploring the Experiences of Adults Living with Neuromuscular Disease and their Caregivers in the United Kingdom [PDF]

Background: Dysphagia is common in adults living with neuromuscular disease (NMD). Increased life expectancy, secondary to improvements in standards of care, requires the recognition and treatment of dysphagia with an increased priority.
Newman, Jill, Newman, William, Anderson, Philip, Allen, Jodi, Rose, Frank, Knight, William, Quezada, Gabriella, Stone-Ghariani, Aoife, Banks, Donna, Smith, Christina   +9 more
core   +1 more source

Systematic assessment of the mouse TATA-box binding protein-associated factor 1 locus reveals novel messenger RNA isoforms and differential protein distribution across brain regions [PDF]

Royal Society Open Science
TATA-box binding protein-associated factor 1 (TAF1) is the largest component of transcription factor IID, a fundamental multi-protein complex for RNA polymerase II-mediated transcription.
Peihang Li, Karen Cleverley, Elisa M. Crombie, Jan Bieschke, Elizabeth M. C. Fisher, Anna-Leigh Brown   +5 more
doaj   +1 more source

Cardiac Manifestations of Neuromuscular Disease

, 2021
Neuromuscular diseases are a group of complex multisystem disorders that commonly and prominently affect striated muscle. Cardiac involvement in neuromuscular diseases namely conduction disorders, ventricular arrhythmias and cardiomyopathy with its ...
Russo V., Papa A. A., Nigro G.
core  

NEUROLOGICAL AND NEUROMUSCULAR DISEASE

British Journal of Anaesthesia, 1986
Aspects du controle nerveux de la respiration. Syndrome de Guillain Barre. Myasthenie.
openaire   +2 more sources

Examining the effect of networks for students with special educational needs

Scandinavian Journal of Disability Research, 2011
Fewer students with disabilities complete upper secondary education than students without disabilities. Danish students with Duchenne muscular dystrophy (DMD), attending either a mainstream or a special needs school, their teachers and parents ...
Ann-Lisbeth Højberg, Jørgen Jeppesen
doaj   +1 more source

Sonographic Characterization of Immune‐Mediated Peripheral Neuropathy

Clinical Neuroimaging
Background and Purpose Whether neuromuscular ultrasound (NMUS) can help differentiate between different types of immune‐mediated neuropathy remains unclear.
Mohamed Khateb, Monica Alcantara, Rodrigo Martinez‐Harms, Lubna Daniyal, Maria Andrea Morelos‐Andrade, Hamid Sadeghian, Vera Bril, Hans Katzberg   +7 more
doaj   +1 more source

Retinal Dystrophies Associated with Mutations in the RP1 Gene: Genotype–Phenotype Correlations

Current Issues in Molecular Biology
Background: We evaluated the genetic and phenotypic features of a cohort of 10 Italian patients affected by Retinitis Pigmentosa (RP) associated with RP1 sequence variants.
Vito Spagnuolo, Marco Piergentili, Ilaria Passerini, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Martina Maccari, Elisabetta Pelo, Ilaria Biagini, Fabrizio Giansanti, Gianni Virgili, Andrea Sodi   +11 more
doaj   +1 more source

Improving physical fitness in neuromuscular diseases [PDF]

Physical inactivity is common among people with neuromuscular diseases due to symptoms such as muscle weakness, fatigue, and pain. Inactivity reduces physical fitness and is assumed to negatively impact on general health, daily functioning, and societal ...
Oorschot, S.
core   +5 more sources

Practical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic Porphyria

Metabolites
Background: Acute hepatic porphyrias (AHPs) represent inherited metabolic disorders of the heme biosynthesis pathway, leading to neurological and systemic impairment. Despite the presence of well-recognized chronic symptoms and signs, acute neurological,
Bruno de Mattos Lombardi Badia, Paulo de Lima Serrano, João Paulo Barile, Daniel Delgado Seneor, Patrícia Marques Mendes, Renan Brandão Rambaldi Cavalheiro, Kaliny Oliveira Peixoto, Igor Braga Farias, Roberta Ismael Lacerda Machado, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira, Paulo Sgobbi   +11 more
doaj   +1 more source