Results 81 to 90 of about 245,637 (381)

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

Clinical analysis of 155 patients with Duchenne muscular dystrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2015
Objective To investigate the clinical manifestations and laboratory examinations of Duchenne muscular dystrophy (DMD) patients and evaluate the principle of intermittent intravenous combined with oral glucocorticoid therapy.
Qi BING, Jing HU, Zhe ZHAO, Hong-rui SHEN, Na LI   +4 more
doaj  

Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients

Biomolecules, 2023
Neutral lipid storage disease type M (NLSD-M) is an ultra-rare, autosomal recessive disorder that causes severe skeletal and cardiac muscle damage and lipid accumulation in all body tissues.
Nelida Inés Noguera, Daniela Tavian, Corrado Angelini, Francesca Cortese, Massimiliano Filosto, Matteo Garibaldi, Sara Missaglia, Ariela Smigliani, Alessandra Zaza, Elena Maria Pennisi   +9 more
doaj   +1 more source

Neuromuscular synaptic function in mice lacking major subsets of gangliosides [PDF]

, 2008
Gangliosides are a family of sialylated glycosphingolipids enriched in the outer leaflet of neuronal membranes, in particular at synapses. Therefore, they have been hypothesized to play a functional role in synaptic transmission.
Ando, Ang, B. Todorov, B.C. Jacobs, Buchwald, Bullens, Chamberlain, Chen, Chiavegatto, Desplats, Egorushkina, F.M.P. Zitman, Fishman, Furuse, Gong, Green, H.J. Willison, Hakomori, Halstead, Halstead, Hashiramoto, Inoue, Isaev, J.J. Plomp, J.J. Verschuuren, K. Furukawa, K. Furukawa, Kaja, Kappel, Kawai, Lang, Ledeen, Ledeen, Liu, Magleby, Marconi, McLachlan, Meir, Nakatani, Ngamukote, O'Hanlon, Okada, Ortiz, Plomp, Proia, Rahmann, Ramirez, Roth, Salaun, Santafe, Sheikh, Simpson, Sohn, Sonnino, Stevens, Sugiura, Susuki, Svennerholm, Takamiya, Tanaka, Taverna, Tettamanti, Varoqueaux, Wang, Wieraszko, Willison, Wood, Wu, Wu, Wu, Wu, Yamashita, Yates   +72 more
core   +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  

Visual Motion Imagery Classification with Deep Neural Network based on Functional Connectivity [PDF]

arXiv, 2021
Brain-computer interfaces (BCIs) use brain signals such as electroencephalography to reflect user intention and enable two-way communication between computers and users. BCI technology has recently received much attention in healthcare applications, such as neurorehabilitation and diagnosis. BCI applications can also control external devices using only
arxiv  

miR126-5p Downregulation Facilitates Axon Degeneration and NMJ Disruption via a Non-Cell-Autonomous Mechanism in ALS. [PDF]

, 2018
Axon degeneration and disruption of neuromuscular junctions (NMJs) are key events in amyotrophic lateral sclerosis (ALS) pathology. Although the disease\u27s etiology is not fully understood, it is thought to involve a non-cell-autonomous mechanism and ...
Behar, Oded, Bonnie, Avichai, Gradus, Tal, Inbar, Shani, Ionescu, Ariel, Maimon, Roy, Perlson, Eran, Sweetat, Sahar, Trotti, Davide, Wald-Altman, Shane, Weil, Miguel   +10 more
core   +2 more sources

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

From Motion to Muscle [PDF]

arXiv, 2022
Voluntary human motion is the product of muscle activity that results from upstream motion planning of the motor cortical areas. We show that muscle activity can be artificially generated based on motion features such as position, velocity, and acceleration.
arxiv