Results 21 to 30 of about 8,039 (253)

Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review

Case Reports in Genetics, 2020
Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of ...
Manuela Quiroga-Carrillo, Cristian Correa-Arrieta, Fernando Ortiz-Corredor, Fernando Suarez-Obando   +3 more
doaj   +1 more source

Long-term treatment with subcutaneous immunoglobulin in multifocal motor neuropathy

Scientific Reports, 2021
Multifocal motor neuropathy (MMN) is a rare disease with a prevalence of less than 1 per 100,000 people. Intravenous immunoglobulin (IVIG) therapy, performed for a long-term period, has been demonstrated able to improve the clinical picture of MMN ...
Luca Gentile, Massimo Russo, Carmelo Rodolico, Ilenia Arimatea, Giuseppe Vita, Antonio Toscano, Anna Mazzeo   +6 more
doaj   +1 more source

Muscle magnetic resonance imaging involvement patterns in nemaline myopathies

Annals of Clinical and Translational Neurology, 2023
Objective Characterise the diagnostic and prognostic value of muscle MRI patterns as biomarkers in a genetically heterogeneous nemaline myopathy (NM) patient cohort.
Luke Perry, Georgia Stimpson, Leeha Singh, Jasper M. Morrow, Sachit Shah, Giovanni Baranello, Francesco Muntoni, Anna Sarkozy   +7 more
doaj   +1 more source

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Nature Communications, 2022
Whole genome sequencing is emerging as a first-line test for rare genetic diseases. In this study, authors maximise diagnoses by supplementing existing semiautomated analyses with clinically driven reevaluation of genomic data by a specialist ...
William L. Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E. Woodward, Yogen Patel, Robyn Labrum, Genomics England Research Consortium, Rahul Phadke, Mary M. Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G. Hanna, Jana Vandrovcova, Robert D. S. Pitceathly   +22 more
doaj   +1 more source

The skeletal muscle phenotype of the DE50-MD dog model of Duchenne muscular dystrophy [version 1; peer review: 2 approved]

Wellcome Open Research, 2022
Background: Animal models of Duchenne muscular dystrophy (DMD) are essential to study disease progression and assess efficacy of therapeutic intervention, however dystrophic mice fail to display a clinically relevant phenotype, limiting translational ...
Claire Massey, Emma M.A. Foster, Dominic J. Wells, Frances Taylor-Brown, Richard J. Piercy, Dominique O. Riddell, John C.W. Hildyard, Faye Rawson, Rachel C.M. Harron   +8 more
doaj   +1 more source

Affordable optical clearing and immunolabelling in mouse brain slices

BMC Research Notes, 2023
Traditional histological analysis is conducted on thin tissue sections, limiting the data capture from large tissue volumes to 2D profiles, and requiring stereological methods for 3D assessment.
Phillip M. Muza, Marta Pérez, Suzanna Noy, Miyu Kurosawa, Loukia Katsouri, Victor L. J. Tybulewicz, Elizabeth M.C. Fisher, Steven J. West   +7 more
doaj   +1 more source

miR-146a in Myasthenia Gravis Thymus Bridges Innate Immunity With Autoimmunity and Is Linked to Therapeutic Effects of Corticosteroids

Frontiers in Immunology, 2020
Toll-like receptor (TLR)-mediated innate immune responses are critically involved in the pathogenesis of myasthenia gravis (MG), an autoimmune disorder affecting neuromuscular junction mainly mediated by antiacetylcholine receptor antibodies ...
Federica Bortone, Letizia Scandiffio, Stefania Marcuzzo, Silvia Bonanno, Rita Frangiamore, Teresio Motta, Carlo Antozzi, Renato Mantegazza, Paola Cavalcante, Pia Bernasconi   +9 more
doaj   +1 more source

PNPT1 Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders

Muscles
An 18-year-old man presented with slowly progressive infancy-onset spasticity of the lower limbs and cerebellar ataxia, associated with painless strabismus, intellectual disability, urinary incontinence, bilateral progressive visual loss, and cognitive ...
Paulo Sgobbi, Igor Braga Farias, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Marco Antônio Troccoli Chieia, Adriel Rêgo Barbosa, Pedro Henrique Almeida Fraiman, Vinícius Lopes Braga, Roberta Ismael Lacerda Machado, Sophia Luiz Calegaretti, Isabela Danziato Fernandes, Roberta Correa Ribeiro, Marco Antonio Orsini Neves, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira   +18 more
doaj   +1 more source

Anxiety, Depression, and Expanded Disability Status Scale Independently Predict the Perception of Disability in Persons With Multiple Sclerosis: A Cross-Sectional Study

Behavioural Neurology
Multiple sclerosis (MS) is the most common cause of disability in young adults due to several motor, sensory, and cognitive symptoms. However, little is still known about the impact of psychological, cognitive, and social-support variables on subjective ...
Chiara Curatoli, Alessia Marcassoli, Filippo Barbadoro, Arianna Fornari, Matilde Leonardi, Alberto Raggi, Silvia Schiavolin, Rachele Terragni, Carlo Antozzi, Laura Brambilla, Valentina Torri Clerici, Paolo Confalonieri, Renato Mantegazza, Martina Lanza   +13 more
doaj   +1 more source

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source