Results 41 to 50 of about 9,606,287 (373)

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

Facilitatory actions of guanidine on synaptic transmission in mammalian brain slices [PDF]

, 1979
Guanidine administration may be beneficial in the treatment of amyotrophic lateral sclerosis and related diseases; however, the actions of guanidine on the mammalian central nervous system have not been investigated.
Galvan, Martin, Grafe, Peter, Ten Bruggencate, Gerrit   +2 more
core   +1 more source

Screening and evaluation tools of dysphagia in adults with neuromuscular diseases: a systematic review

Therapeutic Advances in Chronic Disease, 2019
Background: The purpose of this systematic review was to summarize the different dysphagia screening and evaluation tools, and to identify their measurement properties in adults with neuromuscular diseases (NMDs).
N. Audag, C. Goubau, M. Toussaint, G. Reychler   +3 more
semanticscholar   +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

Neuromuscular Diseases and Bone

Frontiers in Endocrinology, 2019
Neuromuscular diseases (NMDs) are inherited or acquired conditions affecting skeletal muscles, motor nerves, or neuromuscular junctions. Most of them are characterized by a progressive damage of muscle fibers with reduced muscle strength, disability, and
G. Iolascon, M. Paoletta, S. Liguori, C. Curci, A. Moretti   +4 more
semanticscholar   +1 more source

Organizing Multidisciplinary Care for Children with Neuromuscular Diseases [PDF]

, 2012
The Academic Medical Center (AMC) in Amsterdam, The Netherlands, recently opened the `Children's Muscle Center Amsterdam' (CMCA). The CMCA diagnoses and treats children with neuromuscular diseases. These patients require care from a variety of clinicians.
Kortbeek, N., Litvak, N., Velde, M.F. van der   +2 more
core   +6 more sources

The importance of brain mapping for rehabilitation in birth nonprogressive neuromuscular diseases. [PDF]

Front Neuroimaging
Tolmacheva A, Agranovich O, Blagovechtchenski E.   +2 more
europepmc   +3 more sources

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

European Academy of Neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (ERN EURO‐NMD)

European Journal of Neurology
This update of the guideline on the management of amyotrophic lateral sclerosis (ALS) was commissioned by the European Academy of Neurology (EAN) and prepared in collaboration with the European Reference Network for Neuromuscular Diseases (ERN EURO‐NMD ...
P. van Damme, Ammar Al-Chalabi, Peter M. Andersen, A. Chiò, P. Couratier, M. de Carvalho, Orla Hardiman, M. Kuźma-Kozakiewicz, Albert Ludolph, C. Mcdermott, J. Mora, Susanne Petri, Katrin Probyn, Evy Reviers, F. Salachas, V. Silani, Ole Tysnes, Leonard H. van den Berg, Gemma Villanueva, Markus Weber   +19 more
semanticscholar   +1 more source