Results 31 to 40 of about 13,537,879 (292)

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials [PDF]

, 2016
With the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this disorder to properly design clinical trials.
Main, M, Pane, M, Ricotti, V, Manzur, AY, on behalf of UK NorthStar Clinical Network, ., Muntoni, F, Ridout, DA, Mercuri, E, Mayhew, A, Toms B., Childs A., Roper, H., Pallant L., Toms, B, Messina, S, Chow, G, Palmer, J., White C., Sarkozy, A, McMurchie, H., Emery N., Bateman, E., Quinlivan, R, Groves L., Jungbluth, H., Keddie, A, Parsons, B., Senior M., Ridout, Deborah A., Shillington, A., Geary, M, Robb, S., Eagle, M, Childs, A, Mongini, T, Horrocks I., Spinty, S., Muntoni F., Sarkozy, A., Keddie A., Sheehan, J., De Goede C., Manzur, Adnan Y., Scott, E, Greenfield, K., Spahr, R, Willis, T, Wraige E., Mayhew, Anna, Pysden, K., Thomas, N., Bushby, K., Jenkins, L., Baxter, P, Hartley, L, Majumdar A., Thomas N., Robb, S, Pane, Marika, Bateman E., Willis T., Main, Marion, Pallant, L., Ridout D. A., Guglieri M., Roper, H, Pini, A, Robb S., Mercuri E., Wraige, E., Pallant, L, Groves, L., Chow, G., White, C, Jungbluth H., Majumdar, A, Bruno, C, Childs, A., Senior, M, Miah, A, Straub V., Battini, R, POLITANO, Luisa, Hartley L., MESSINA, Sonia, Cammiss, C, Bateman, E, Pysden K., Senior, M., Scott E., White, C., Muntoni, Francesco, Jenkins L., McMurchie H., Eagle, M., Peachey G., Peachey, G., Chow G., Bushby, K, Guglieri, M, Miah, A., Di Marco, M, Miah A., de Goede, C, Greenfield K., Butler, J., Hartley, L., Horrocks, I., Jenkins, L, Cammiss C., Hughes, I., Straub, V, Parsons B., Baxter, P., Bushby K., Cammiss, C., Parsons, B, Pane M., Greenfield, K, Keddie, A., Mercuri, Eugenio, Mayhew A., Hughes I., Naismith, K., Pysden, K, Roper H., D'Amico, A, Mcmurchie, H, Emery, N, Scott, E., Jungbluth, H, Toms, B., Ricotti, Valeria, Di Marco M., Spahr R., Butler J., Shillington, A, Wilson I., Geary, M., Quinlivan R., Groves, L, De Goede, C., Quinlivan, R., Butler, J, Manzur A. Y., Emery, N., Willis, T., Horrocks, I, Spahr, R., Di Marco, M., Hughes, I, Bertini, E, Peachey, G, Morandi, L., Shillington A., Spinty S., Main M., Spinty, S, Pegoraro, E, Naismith, K, Eagle M., Wilson, I., Palmer, J, Sheehan J., Baxter P., Guglieri, M., Comi, G, Sarkozy A., Ricotti V., Wilson, I, Naismith K., Thomas, N, Berardinelli, A, Wraige, E, Geary M., Sheehan, J, Palmer J., Straub, V., Majumdar, A.   +178 more
core   +1 more source

Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies

Orphanet Journal of Rare Diseases, 2021
Background X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically present with severe hypotonia and respiratory distress at birth and they often require ...
Adele D’Amico, Antonella Longo, Fabiana Fattori, Michele Tosi, Luca Bosco, Maria Beatrice Chiarini Testa, Giovanna Paglietti, Claudio Cherchi, Adelina Carlesi, Irene Mizzoni, Enrico Bertini   +10 more
doaj   +1 more source

Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

Italian Journal of Pediatrics, 2021
Background Heterozygous variants in CNTNAP2 have been implicated in a wide range of neurological phenotypes, including intellectual disability (ID), epilepsy, autistic spectrum disorder (ASD), and impaired language.
Marcello Scala, Midas Anijs, Roberta Battini, Francesca Madia, Valeria Capra, Paolo Scudieri, Alberto Verrotti, Federico Zara, Carlo Minetti, Sonja C. Vernes, Pasquale Striano   +10 more
doaj   +1 more source

International Classification of Diseases

Definitions, 2020
Como citar este artículo: Vernaza-Pinzón P, Sánchez JA, Jojoa-Cifuentes C, Martínez MC, Patiño LD, Moriones E. Clasificación internacional de enfermedades vs clasificación del funcionamiento, la discapacidad y el estado de salud: : la contractura ...
Paola Vernaza Pinzón, Jhon Alejandro Sánchez, C. Cifuentes, María Martínez, L. Patino, Eileen Yulieth Moriones   +5 more
semanticscholar   +1 more source

Gene Therapy for Duchenne Muscular Dystrophy

Journal of Neuromuscular Diseases, 2021
Duchenne muscular dystrophy (DMD) is an X-linked, muscle wasting disease that affects 1 in 5000 males. Affected individuals become wheelchair bound by the age of twelve and eventually die in their third decade due to respiratory and cardiac complications.
Nertiyan Elangkovan, G. Dickson
semanticscholar   +1 more source

Temporal Bayesian classifiers for modelling muscular dystrophy expression data [PDF]

, 2006
The analysis of microarray data from time-series experiments requires specialised algorithms, which take the temporal ordering of the data into account. In this paper we explore a new architecture of Bayesian classifier that can be used to understand how
Liu, X, Vinciotti, V, Hoen, PAC't, Tucker, A   +3 more
core   +3 more sources

Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations

Cell Death and Disease, 2023
Duchenne muscular dystrophy is a genetic disease produced by mutations in the dystrophin gene characterized by early onset muscle weakness leading to severe and irreversible disability. The cellular and molecular consequences of the lack of dystrophin in
Xavier Suárez-Calvet, Esther Fernández-Simón, Daniel Natera, Cristina Jou, Patricia Pinol-Jurado, Elisa Villalobos, Carlos Ortez, Alexandra Monceau, Marianela Schiava, Anna Codina, José Verdu-Díaz, James Clark, Zoe Laidler, Priyanka Mehra, Rasya Gokul-Nath, Jorge Alonso-Perez, Chiara Marini-Bettolo, Giorgio Tasca, Volker Straub, Michela Guglieri, Andrés Nascimento, Jordi Diaz-Manera   +21 more
doaj   +1 more source

Effectiveness of ischemic compression pressure versus spray and stretch technique in the management of active myofascial trigger points of trapezius muscle.

International Journal of Endorsing Health Science Research, 2021
Background: Now, a days myofascial trigger points are tremendously occurring and become a stressful part of nearly any person at any time in a lifetime. This study compares the effects of ischemic compression pressure with spray and stretch technique to ...
Urooj Khan, Saeed Akhter, Muhammad Khan, Aftab Ahmed Mirza Baig   +3 more
doaj   +1 more source

Gene-based therapies for Neurodegenerative Diseases

Nature Neuroscience, 2021
Gene therapy is making a comeback. With its twin promise of targeting disease etiology and ‘long-term correction’, gene-based therapies (defined here as all forms of genome manipulation) are particularly appealing for neurodegenerative diseases, for ...
Ji-Chao Sun, Subhojit Roy
semanticscholar   +1 more source

Musculoskeletal disorders in university professors who telework due to COVID-19 pandemic

Universidad y Salud, 2022
Introduction: Teaching virtually can cause symptoms related to muscle pain due to bad postures when working with computers. Objective: To determine the presence of musculoskeletal disorders in university professors who telework during the COVID-19 ...
Angy Natalia Cristancho, Andrea Almario Barrera, Yeny Castellanos-Domínguez   +2 more
doaj   +1 more source