Results 51 to 60 of about 120,291 (395)

Aberrant Autophagic Response in The Muscle of A Knock-in Mouse Model of Spinal and Bulbar Muscular Atrophy [PDF]

, 2015
Spinal and bulbar muscular atrophy (SBMA) is characterized by loss of motoneurons and sensory neurons, accompanied by atrophy of muscle cells. SBMA is due to an androgen receptor containing a polyglutamine tract (ARpolyQ) that misfolds and aggregates ...
Aggarwal, Tanya, Cicardi, Maria Elena, Crippa, Valeria, Cristofani, Riccardo, Galbiati, Mariarita, Giorgetti, Elisa, Lieberman, Andrew P., Meroni, Marco, Messi, Elio, Milioto, Carmelo, Pennuto, Maria, Piccolella, Margherita, Polanco, Maria Josefa, Poletti, Angelo, Rocchi, Anna, Rusmini, Paola   +15 more
core   +2 more sources

Serum neurofilament light chain in pediatric spinal muscular atrophy patients and healthy children

Annals of Clinical and Translational Neurology, 2021
The aim of this study was to evaluate neurofilament light chain as blood biomarker for disease activity in children and adolescents with different types of spinal muscular atrophy (SMA) and establish pediatric reference values.
E. Nitz, M. Smitka, J. Schallner, K. Akgün, T. Ziemssen, M. von der Hagen, V. Tüngler   +6 more
semanticscholar   +1 more source

Spinal Muscular Atrophy

Seminars in Neurology, 2001
The spinal muscular atrophies are a group of mostly inherited disorders selectively affecting the lower motor neuron. There is a wide degree of clinical and genetic heterogeneity that must be taken into account when giving prognostic information. Autosomal recessive childhood proximal SMA is the commonest form and is due to mutations in a gene encoding
Talbot, K, Davies, K
openaire   +3 more sources

The efficacy and safety of nusinersen within the expanded access program in Russia

Нервно-мышечные болезни, 2020
Introduction. Spinal muscular atrophy is a severe neuromuscular disease characterized by rapid progression of muscle weakness and early death. Pathogenetic therapy with nusinersen can significantly change the course of the disease and enable the patient ...
S. B. Artemieva, L. M. Kuzenkova, E. S. Ilyina, Yu. A. Kursakova, L. M. Kolpakchi, E. Yu. Sapego, A. A. Golenko, S. G. Popovich, D. V. Parshin, O. A. Shidlovskaya, Yu. O. Papina, A. V. Monakhova, D. V. Vlodavets   +12 more
doaj   +1 more source

Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy [PDF]

, 2016
Acknowledgments Blood biochemistry analysis and serum analysis were performed by the Easter Bush Pathology Department, University of Edinburgh. Animal husbandry was performed by Centre for Integrative Physiology bio-research restructure technical staff ...
Azzouz, Mimoun, Becker, Catherina G., Boyd, Penelope, Come, Julian, Gillingwater, Thomas H., Groen, Ewout J.N., Hunter, Gillian, Jones, Ross A., Karyka, Evangelina, Martinat, Cecile, Parson, Simon H., Powis, Rachael A., Szunyogova, Eva, Thomson, Derek, Wishart, Thomas M., Zheng, Yinan   +15 more
core   +3 more sources

Update on Biomarkers in Spinal Muscular Atrophy

Biomarker Insights, 2021
The availability of disease modifying therapies for spinal muscular atrophy (SMA) has created an urgent need to identify clinically meaningful biomarkers. Biomarkers present a means to measure and evaluate neurological disease across time.
Megan G Pino, Kelly A. Rich, S. Kolb
semanticscholar   +1 more source

Rehabilitation in spinal muscular atrophy

Medycyna Ogólna i Nauki o Zdrowiu, 2021
Introduction and objective Spinal Muscular Atrophy (SMA) is a disease of the nervous system caused by the degeneration of motor neurons in the spinal cord. The disease is caused by a homozygous deletion of the motor neuron survival gene (SMN1),
Joanna Iłżecka
doaj   +1 more source

A functional motor unit in the culture dish : co-culture of spinal cord explants and muscle cells [PDF]

, 2012
Human primary muscle cells cultured aneurally in monolayer rarely contract spontaneously because, in the absence of a nerve component, cell differentiation is limited and motor neuron stimulation is missing(1). These limitations hamper the in vitro study
Arnold, Anne-Sophie, Christe, Martine, Handschin, Christoph   +2 more
core   +1 more source

Spinal and Bulbar Muscular Atrophy [PDF]

Neurologic Clinics, 2015
Spinal and bulbar muscular atrophy, or Kennedy disease, is a slowly progressive X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. Affected males typically develop weakness in their mid-40s as well as evidence of androgen insensitivity with reduced fertility and gynecomastia.
Christopher Grunseich, Kenneth H. Fischbeck   +1 more
openalex   +3 more sources

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]

, 2015
Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania, Parente, Valeria, Porro, Francesca, Rinchetti, Paola, Vanoli, Fiammetta   +4 more
core   +2 more sources