Results 81 to 90 of about 189,433 (365)

Resistance Exercise Training in McArdle Disease: Myth or Reality?

Case Reports in Neurological Medicine, 2018
McArdle disease is a metabolic myopathy mainly characterised by symptom onset during physical activities or isometric muscle contraction. Resistance (also termed strength) training is a type of physical exercise focusing on the use of resistance (e.g ...
Aleksandra Pietrusz, Renata S. Scalco, Ros Quinlivan   +2 more
doaj   +1 more source

Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional and longitudinal analyses of myostatin levels in treated SMA patients.
Fiorella Piemonte, Sara Petrillo, Anna Capasso, Giorgia Coratti, Adele D'Amico, Michela Catteruccia, Maria Carmela Pera, Concetta Palermo, Marika Pane, Emanuela Abiusi, Gianpaolo Cicala, Marianna Villa, Chiara Bravetti, Chiara Arpaia, Agnese Novelli, Salvatore Falqui, Stefania Fiori, Giulia Napoli, Silvia Baroni, Francesco Danilo Tiziano, Enrico Bertini, Giacomo Comi, Stefania Corti, Eugenio Mercuri   +23 more
wiley   +1 more source

Preclinical common data elements for general pharmacological studies (pharmacokinetic sample collection, tolerability, and drug administration). A report of the TASK3‐WG1A General Pharmacology Working Group of the ILAE/AES Joint Translational Task Force

Epilepsia Open, EarlyView., 2023
Abstract Growing concerns over rigor and reproducibility of preclinical studies, including consistency across laboratories and translation to clinical populations, have triggered efforts to harmonize methodologies. This includes the first set of preclinical common data elements (CDEs) for epilepsy research studies, as well as Case Report Forms (CRFs ...
Lisa Coles, Patrick A. Forcelli, Karine Leclercq, Anna‐Maria Katsarou, Brian D. Klein, Heidrun Potschka, Rudiger Koehling, Lauren Harte‐Hargrove, Aristea S. Galanopoulou, Cameron S. Metcalf   +9 more
wiley   +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

Biofluid Biomarkers in the Prognosis of Amyotrophic Lateral Sclerosis: Recent Developments and Therapeutic Applications

Cells, 2023
Amyotrophic lateral sclerosis is a neurodegenerative disease characterized by the degeneration of motor neurons for which effective therapies are lacking.
Daniel Sanchez-Tejerina, Arnau Llaurado, Javier Sotoca, Veronica Lopez-Diego, Jose M. Vidal Taboada, Maria Salvado, Raul Juntas-Morales   +6 more
doaj   +1 more source

The Impact of Diabetes and Metabolic Syndrome Burden on Pain, Neuropathy Severity and Fiber Type

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Determine the association between diabetes and metabolic syndrome (MetS) burden (number of MetS criteria fulfilled) and pain, neuropathy severity, and fiber type involvement in individuals with established polyneuropathy. Methods The Peripheral Neuropathy Research Registry was queried for individuals with type 1 and type 2 diabetes ...
Long Davalos, Brian C. Callaghan, Lavanya Muthukumar, Simone Thomas, Evan L. Reynolds, A. Gordon Smith, J. Robinson Singleton, Ahmet Höke, Senda Ajroud‐Driss, Mazen M. Dimachkie, Stefanie Geisler, David M. Simpson, PNRR Study Group, Amro M. Stino   +13 more
wiley   +1 more source

Rule Based Expert System for Diagnosis of Neuromuscular Disorders [PDF]

arXiv, 2012
In this paper, we discuss the implementation of a rule based expert system for diagnosing neuromuscular diseases. The proposed system is implemented as a rule based expert system in JESS for the diagnosis of Cerebral Palsy, Multiple Sclerosis, Muscular Dystrophy and Parkinson's disease. In the system, the user is presented with a list of questionnaires
arxiv  

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +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

Morphological characteristics of motor neurons do not determine their relative susceptibility to degeneration in a mouse model of severe spinal muscular atrophy [PDF]

, 2012
Spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality, resulting primarily from the degeneration and loss of lower motor neurons.
A Lionikas, AD Ebert, B Wirth, BJ Turner, C Cifuentes-Diaz, Chantal A. Mutsaers, CL Lorson, CM McCann, CM Mutsaers, CS Lobsiger, D Angaut-Petit, Derek Thomson, G Feng, G Valdez, G Vrbova, Gillian Hamilton, GZ Mentis, H Ilieva, Huaibin Cai, J Hegedus, J Pearn, JN Sleigh, Joya E. Nahon, K Talbot, KK Ling, KK Ling, L Kong, LM Murray, LM Murray, LM Murray, LR Fischer, M Ruggui, MC Brown, MR Lunn, R Dengler, S Kariya, S Kariya, S Lefebvre, S Pun, S Saxena, Simon H. Parson, Sophie R. Thomson, SR Thomson, T Yamazaki, TH Gillingwater, Thomas H. Gillingwater, UR Monani, WG Bradley, Z Feng   +48 more
core   +6 more sources