Results 1 to 10 of about 111,994 (138)

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

Genetic neuromuscular disease [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2002
The clinical practice of neuromuscular disease is currently undergoing enormous change as a direct result of the wealth of recent molecular genetic discoveries. Indeed, the majority of gene discoveries in the area of neurological disease relate to neuromuscular disorders.
Mary M, Reilly, Michael G, Hanna
openaire   +2 more sources

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

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

Biobank of Cells, Tissues and DNA from Patients with Neuromuscular Diseases: An Indispensable link between Clinical Centers and the Scientific Community

Open Journal of Bioresources, 2017
The Biobank was established in 1986 as part of the routine diagnostic activity of the Division of Neuromuscular Diseases and Neuroimmunology, of the Carlo Besta Neurological Institute.
Marina Mora, Cinzia Bragato, Sara Gibertini, Simona Zanotti, Maurizio Curcio, Eleonora Canioni, Franco Salerno, Flavia Blasevich, Simona Saredi, Alessandra Ruggieri, Maria Barbara Pasanisi, Pia Bernasconi, Lorenzo Maggi, Renato Mantegazza, Francesca Andreetta   +14 more
doaj   +1 more source

A highly prevalent SINE mutation in the myostatin (MSTN) gene promoter is associated with low circulating myostatin concentration in Thoroughbred racehorses

Scientific Reports, 2021
Horse racing is a popular and financially important industry worldwide and researchers and horse owners are interested in genetic and training influences that maximise athletic performance.
Victoria O’Hara, Amélie Cowan, Dominique Riddell, Claire Massey, John Martin, Richard J. Piercy   +5 more
doaj   +1 more source

Complement Activation Profile in Myasthenia Gravis Patients: Perspectives for Tailoring Anti-Complement Therapy

Biomedicines, 2022
The complement system plays a key role in myasthenia gravis (MG). Anti-complement drugs are emerging as effective therapies to treat anti-acetylcholine receptor (AChR) antibody-positive MG patients, though their usage is still limited by the high costs ...
Nicola Iacomino, Fiammetta Vanoli, Rita Frangiamore, Marta Ballardini, Letizia Scandiffio, Federica Bortone, Francesca Andreetta, Fulvio Baggi, Pia Bernasconi, Carlo Antozzi, Paola Cavalcante, Renato Mantegazza   +11 more
doaj   +1 more source

Systematic Comparison of Muscle Ultrasound Thickness in Polyneuropathies and Other Neuromuscular Diseases

Neurology and Therapy, 2023
Background We have aimed to assess whether muscle thickness ultrasound (US) shows differences between patients with chronic inflammatory demyelinating polyneuropathy (CIDP), chronic axonal polyneuropathy (CAP), and other neuromuscular (NM) diseases ...
Sara A. Alnajjar, Davood Fathihelabad, Alon Abraham, Lubna Daniyal, Leif Erik Lovblom, Vera Bril   +5 more
doaj   +1 more source