Results 61 to 70 of about 120,291 (395)

Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes [PDF]

, 2017
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease characterized by the loss of lower motor neurons. SBMA is caused by expansions of a polyglutamine tract in the gene coding for androgen receptor (AR).
Blaauw, Bert, Borgia, Doriana, Gomes Pereira, Marcelo, Lieberman, Andrew P., Maino, Eleonora, Malena, Adriana, Marchioretti, Caterina, Milioto, Carmelo, Pegoraro, Elena, Pennuto, Maria, Pennuto, Maria, Plebani, Mario, Polanco, Maria J., Sambataro, Fabio, Sambataro, Fabio, Sorar, Gianni, Soraru', Gianni, Venturini, Roberta, Vergani, Lodovica   +18 more
core   +3 more sources

Occasional essay: upper motor neuron syndrome in amyotrophic lateral sclerosis [PDF]

, 2020
The diagnosis of amyotrophic lateral sclerosis (ALS) requires recognition of both lower (LMN) and upper motor neuron (UMN) dysfunction.1 However, classical UMN signs are frequently difficult to identify in ALS.2 LMN involvement is sensitively detected ...
Burke, David, deCarvalho, Mamede, Grosskreutz, Julian, Kiernan, Matthew C, Leigh, P Nigel, Swash, Michael, Turner, Martin R   +6 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   +14 more sources

Carrier screening for spinal muscular atrophy in 22913 Chinese reproductive age women

Molecular Genetics & Genomic Medicine
To determine the carrier frequency of, and evaluate a carrier screening program for, spinal muscular atrophy (SMA) in reproductive age women in Shenzhen area.
Lijun Zhang, Jun-luan Mo, Lu Zhou, Xiaoxin Xu, Zhi-yong Xu, Lei Zhang, Weiqing Wu   +6 more
semanticscholar   +1 more source

Serum creatine kinase and creatinine in adult spinal muscular atrophy under nusinersen treatment

Annals of Clinical and Translational Neurology, 2021
To determine whether serum creatine kinase activity (CK) and serum creatinine concentration (Crn) are prognostic and predictive biomarkers for disease severity, disease progression, and nusinersen treatment effects in adult patients with 5q‐associated ...
M. Freigang, C. Wurster, T. Hagenacker, B. Stolte, M. Weiler, C. Kamm, O. Schreiber-Katz, Alma Osmanovic, S. Petri, A. Kowski, T. Meyer, J. Koch, I. Cordts, M. Deschauer, P. Lingor, Elisa Aust, Daniel Petzold, A. Ludolph, Björn H. Falkenburger, A. Hermann, R. Günther   +20 more
semanticscholar   +1 more source

Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study. [PDF]

, 2018
Peculiar cognitive profile of patients with SBMA has been described by fragmented literature. Our retrospective study reports the neuropsychological evaluations of a large cohort of patients in order to contribute towards the understanding of this field.
A. (2018).,, Bertolin, C., Cipolletta, S., Kleinbub, J. R., Marcato, S., Martinelli, I., Palmieri, Arianna, Pegoraro, E, Pick, E., Querin, G., Sorar\uf9, G.   +10 more
core   +1 more source

Nusinersen Treatment in Adults With Spinal Muscular Atrophy

Neurology Clinical Practice, 2021
Objective To determine changes in motor and respiratory function after treatment with nusinersen in adults with spinal muscular atrophy (SMA) during the first two years of commercial availability in the USA.
T. Duong, C. Wolford, M. Mcdermott, C. Macpherson, A. Pasternak, A. Glanzman, W. Martens, E. Kichula, B. Darras, D. D. De Vivo, Z. Zolkipli-Cunningham, R. Finkel, M. Zeineh, M. Wintermark, J. Sampson, K. Hagerman, S. Young, J. Day   +17 more
semanticscholar   +1 more source

Integrating newborn screening for spinal muscular atrophy into health care systems: an Australian pilot programme

Developmental Medicine & Child Neurology, 2021
This study dynamically designed, evaluated, and implemented the components of an Australian newborn bloodspot screening (NBS) pilot programme for spinal muscular atrophy (SMA).
Arlene M. D'Silva, D. Kariyawasam, S. Best, V. Wiley, M. Farrar   +4 more
semanticscholar   +1 more source

Nusinersen for spinal muscular atrophy [PDF]

Therapeutic Advances in Neurological Disorders, 2018
Claudia D. Wurster, Albert C. Ludolph
doaj   +3 more sources

Impaired Nuclear Export of Polyglutamine-Expanded Androgen Receptor in Spinal and Bulbar Muscular Atrophy. [PDF]

, 2019
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by polyglutamine (polyQ) expansion in the androgen receptor (AR). Prior studies have highlighted the importance of AR nuclear localization in SBMA pathogenesis; therefore, in ...
Arnold, Frederick J., Merry, Diane E., Pluciennik, Anna   +2 more
core   +3 more sources