Results 41 to 50 of about 198,800 (341)

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]

, 2015
Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania, Parente, Valeria, Porro, Francesca, Rinchetti, Paola, Vanoli, Fiammetta   +4 more
core   +2 more sources

Review: Dystroglycan in the Nervous System [PDF]

, 2007
Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
core   +2 more sources

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

Rehabilitation interventions for foot drop in neuromuscular disease [PDF]

, 2009
"Foot drop" or "Floppy foot drop" is the term commonly used to describe weakness or contracture of the muscles around the ankle joint.
Brumett, Donaghy, Farmer, Forst, Forst, Geboers, Geboers, Geboers, Germain, Hove, Hyde, Jadad, Jaivin, Kooi, Kooi, Kooi, Kooi, Lindeman, Manzur, Manzur, Matjaic, McDonald, Olsen, Refshauge, Richardson, Rideau, Rozier, Sackley, Tropp, Tulder, Turner-Stokes, Vigasio, Wiesinger, Wiesseman   +33 more
core   +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.
Michael G. Hanna, Mary M. Reilly
openaire   +3 more sources

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

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
core   +1 more source

Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients [PDF]

, 2016
Objective: To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). Methods: 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal ...
Angelini, Lorenzo, Bello, Luca, Bertolin, Cinzia, Briani, Chiara, Caretta, Nicola, Corrado, Domenico, da Re, Elisa, Ermani, Mario, Ferlin, Alberto, Foresta, Carlo, Gaiani, Alessandra, Galasso, Giuliana, Iafrate, Massimo, Mandrioli, Jessica, Mariotti, Caterina, Massa, Roberto, Mazzini, Letizia, Palmieri, Arianna, Pareyson, Davide, Pegoraro, Elena, Pennuto, Maria, Pennuto, Maria, Petrucci, Antonio, Polo, Alberto, Querin, Giorgia, Ricci, Giulia, Romito, Silvia, Sagnelli, Anna, Sartori, Leonardo, Scarpelli, Mauro, Semplicini, Claudio, Siciliano, Gabriele, Silani, Vincenzo, Silvano, Maria, Soraru', Gianni, Tonin, Paola, Volpe, Marco, Zara, Gabriella   +37 more
core   +1 more source

Measuring neuromuscular junction functionality [PDF]

, 2017
Neuromuscular junction (NMJ) functionality plays a pivotal role when studying diseases in which the communication between motor neuron and muscle is impaired, such as aging and amyotrophic lateral sclerosis (ALS).
Del Prete, Zaccaria, Musaro, Antonio, Nicoletti, Carmine, Pisu, Simona, Rizzuto, Emanuele   +4 more
core   +1 more source