Results 11 to 20 of about 2,421,984 (303)

Telemedicine and remote monitoring in neuromuscular diseases: Challenges and opportunities. [PDF]

J Neuromuscul Dis
Background: Telemedicine, the application of those information technologies to remotely provide health services either for synchronously catching or asynchronous monitoring patient medical data, has shown a growing and widespread application in several ...
Torri F, Schirinzi E, Fontanelli L, Ricci G, Mancuso M, Bochicchio M, Siciliano G.   +6 more
europepmc   +2 more sources

Diagnosing Neuromuscular Diseases [PDF]

European Medical Journal Neurology, 2018
The field of neuromuscular diseases (NMD) has evolved at an unprecedented speed over the last two decades. Due to advances in molecular genetics, the number of identifiably different diseases has increased and a higher level of complexity has become ...
Alberto L. Dubrovsky
doaj   +1 more source

Electronic Devices and Digital Therapeutics in Neuromuscular Diseases: Narrative Review on Current Applications in Patients' Management and Pharmacovigilance [PDF]

Health Care Sci
Digital innovations are revolutionizing neuromuscular disease management by integrating wearable sensors, mobile applications, and telemedicine to enable continuous monitoring and personalized care. These technologies enhance diagnosis, treatment, and drug development fostering dynamic interaction between patients and clinicians paving the way toward ...
Saltarella I, Altamura C, Laghetti P, Settanni G, Savino N, Galiano A, Fraysse B, Vacca A, Desaphy J.   +8 more
europepmc   +2 more sources

Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions

Biomolecules, 2023
A recessive Short Tandem Repeat expansion in RFC1 has been found to be associated with cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS), and to be a frequent cause of late onset ataxia and sensory neuropathy.
Stefano Facchini, Natalia Dominik, Arianna Manini, Stephanie Efthymiou, Riccardo Currò, Bianca Rugginini, Elisa Vegezzi, Ilaria Quartesan, Benedetta Perrone, Shahedah Koya Kutty, Valentina Galassi Deforie, Ricardo P. Schnekenberg, Elena Abati, Anna Pichiecchio, Enza Maria Valente, Cristina Tassorelli, Mary M. Reilly, Henry Houlden, Enrico Bugiardini, Andrea Cortese   +19 more
doaj   +1 more source

A cross-sectional evaluation of acceptability of an online palliative rehabilitation program for family caregivers of people with amyotrophic lateral sclerosis and cognitive and behavioral impairments

BMC Health Services Research, 2022
Background Amyotrophic lateral sclerosis (ALS) is a progressive fatal neurodegenerative disease. Around half of the population with ALS develop cognitive and/or behavioral impairment.
Lene Klem Olesen, Karen la Cour, Heidi With, Annette Faber Mahoney, Charlotte Handberg   +4 more
doaj   +1 more source

Combination of serum and CSF neurofilament-light and neuroinflammatory biomarkers to evaluate ALS

Scientific Reports, 2021
This monocentric prospective study of patient suffering from Amyotrophic lateral sclerosis (ALS) aims to evaluate the prognosis and diagnostic potential of both Neurofilament-Light (Nf-L) and neuroinflammatory biomarkers in serum and CSF.
Alexandre Brodovitch, José Boucraut, Emilien Delmont, Amandine Parlanti, Aude-Marie Grapperon, Shahram Attarian, Annie Verschueren   +6 more
doaj   +1 more source

The genetic profile of childhood neuromuscular disorders: A single center experience [PDF]

, 2023
Neuromuscular Diseases are a heterogeneous group of childhood disorders, and differential diagnosis can be challenging. Although there is no definitive treatment for the most of this group of diseases, early diagnosis is important with the development of
Ayaz, Akif, Öztürk, Gülten, Özcan, S. Aksoy, Tezel, Oğuzhan, Polat, H., Türkdoğan, Dilşad, Ünver, Olcay   +6 more
core   +1 more source

Autoantibody Testing in Neuromuscular Disorders [PDF]

, 2022
Autoantibodies are present in many autoimmune disorders, including diseases impacting the peripheral nerve, neuromuscular junction, and muscle. Some of these autoantibodies play a vital role in pathogenesis, whereas others are unlikely to be directly ...
김승우, 신하영, Ha Young Shin, Seung Woo Kim   +3 more
core   +1 more source

Very-early Guillain-Barré syndrome: Clinical characteristics, electrophysiological findings, and short-term functional outcome

Revista Mexicana de Neurociencia, 2021
Background: Guillain-Barré syndrome (GBS) patients who present very early (< 4 days) to health-care services generally have severe clinical forms due to rapid progression.
Juan C. López-Hernández, Raúl N. May-Mas, Javier A. Galnares-Olalde, Lisette Bazán-Rodríguez, Adib J. de-Saráchaga, Eunice Martínez-Jiménez, Jorge Burgos-Centeno, Elizabeth León-Manríquez, Edwin S. Vargas-Cañas   +8 more
doaj   +1 more source

Cross-sectorial collaboration on policy-driven rehabilitation care models for persons with neuromuscular diseases: reflections and behavior of community-based health professionals

BMC Health Services Research, 2022
Background Persons with neuromuscular diseases (NMDs) often experience complex rehabilitation needs due to the disease’s impact on their functioning and progression of their diseases.
Charlotte Handberg, Ulla Werlauff
doaj   +1 more source