Zobrazeno 1 - 10
of 37
pro vyhledávání: '"spinal muscular atrophy type 3"'
Autor:
Marija Miletić, Zorica Stević, Svetlana Vujović, Jelena Rakočević, Ana Tomić, Milina Tančić Gajić, Miloš Stojanović, Aleksa Palibrk, Miloš Žarković
Publikováno v:
Diagnostics, Vol 14, Iss 18, p 2078 (2024)
Background: Spinal muscular atrophy type 3 (juvenile SMA, Kugelberg–Welander disease) is a genetic disease caused by changes in the survival motor neuron 1 (SMN) gene. However, there is increasing evidence of metabolic abnormalities in SMA patients
Externí odkaz:
https://doaj.org/article/492465b267e44f2aa3f7d63797611ac1
Akademický článek
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Publikováno v:
Bangladesh Journal of Child Health. 43:183-187
Spinal muscular atrophy (SMA) type 3 is a relatively stable genetically determined chronic neuromuscular disorder caused by degeneration of motor neurons of spinal cord. Patients with type 3 SMA may gradually experience decline in muscle strength and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::07ec00a704aca3c29b34a96acea9b9b8
https://doi.org/10.3329/bjch.v43i3.49580
https://doi.org/10.3329/bjch.v43i3.49580
Autor:
Francesca Magri, Megi Meneri, Gabriele Siciliano, Irene Faravelli, Nino Stocchetti, Elena Abati, Edoardo Calderini, Stefania Corti, Dario Ronchi, Grazia D'Angelo, Nereo Bresolin, Valeria Parente, Lucia Petrozzi, Giacomo P. Comi, Edi Prandi, Giovanna Chidini, Domenica Saccomanno, Daniele Velardo, Giulia Ricci, A. Govoni, Delia Gagliardi
Publikováno v:
Journal of Cellular and Molecular Medicine
The antisense oligonucleotide Nusinersen has been recently licensed to treat spinal muscular atrophy (SMA). Since SMA type 3 is characterized by variable phenotype and milder progression, biomarkers of early treatment response are urgently needed. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bbe3e1e4a6b1ea6ede8cd21c114dd7a
https://doi.org/10.1111/jcmm.14939
https://doi.org/10.1111/jcmm.14939
Autor:
Alicja Martyniak, Jozef Dulak, Jacek Stępniewski, Anna Potulska-Chromik, Kalina Andrysiak, Anna Kostera-Pruszczyk
Publikováno v:
Stem Cell Research, Vol 57, Iss, Pp 102563-(2021)
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease caused by mutations inSMN1 gene encoding survival motor neuron (SMN) protein. Lack of this protein leads to progressive loss of motor neurons and therefore to gradual loss of signal tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74aaa8afb75582ffd52750209aeb7d35
https://pubmed.ncbi.nlm.nih.gov/34678665
https://pubmed.ncbi.nlm.nih.gov/34678665
Autor:
Gleydiane De Oliveira, Devon I. Rubin, Angelica R. Gicalone, Jaimin S. Shah, Christina R. Owens, Elliot L. Dimberg, Bjorn Oskarsson
Publikováno v:
The Neurologist. 25:141-143
Introduction Nusinersen antisense oligonucleotide infusions have been shown to be effective in the treatment spinal muscular atrophy. The majority of the evidence has been collected in young type 1 and type 2 patients, and evidence of efficacy in adu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79bde234467f0563efb631c0eec57d46
https://doi.org/10.1097/nrl.0000000000000284
https://doi.org/10.1097/nrl.0000000000000284
Autor:
Melissa T. Hooijmans, Bart Bartels, Laura E Habets, W. Ludo van der Pol, Jeroen A L Jeneson, Sandra van den Berg, Aart J. Nederveen, Fay-Lynn Asselman
Publikováno v:
Brain, 145(4), 1422-1435. Oxford University Press
Genetic therapy has changed the prognosis of hereditary proximal spinal muscular atrophy, although treatment efficacy has been variable. There is a clear need for deeper understanding of underlying causes of muscle weakness and exercise intolerance i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8f7bb76a5f838881def0cf3a6020815
https://pubmed.ncbi.nlm.nih.gov/34788410
https://pubmed.ncbi.nlm.nih.gov/34788410
Publikováno v:
Journal of neuromuscular diseases. 8(4)
Background: Spinal muscular atrophy is an autosomal recessive neuromuscular disease leading to ongoing degeneration of anterior horn cells in the spinal cord. Nusinersen is the first approved treatment for the condition, an intrathecally administered
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9060e61c703036056612742334745268
https://pubmed.ncbi.nlm.nih.gov/33682724
https://pubmed.ncbi.nlm.nih.gov/33682724
Autor:
Hyoh Kim, Nobuhiro Ogawa, Ryutaro Nakamura, Isamu Yamakawa, Mitsuru Sanada, Makoto Urushitani, Naoki Okamoto, Yuhei Otowa, Takahito Tsukamoto, Akihiro Kitamura
Publikováno v:
Internal Medicine
A 23-year-old woman was admitted for slowly progressive proximal limb muscle weakness from childhood with elevated muscle enzyme levels. Although muscular diseases were suspected, an electromyogram showed remarkable neurogenic changes, and a muscle e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a4295b4caf0e93fcd64a515e6dd89ad
https://pubmed.ncbi.nlm.nih.gov/33456041
https://pubmed.ncbi.nlm.nih.gov/33456041
Publikováno v:
Journal of Foot and Ankle Research
Journal of Foot and Ankle Research, Vol 13, Iss 1, Pp 1-15 (2020)
Journal of Foot and Ankle Research, Vol 13, Iss 1, Pp 1-15 (2020)
Background Weakness is the primary impairment in paediatric neuromuscular diseases, impacting gait and gait-related functional activities in ambulant children affected by these rare and often degenerative diseases. Gait speed is an indicator of healt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c09cbec4599b291b66620c2a86e0247c
http://europepmc.org/articles/PMC7052968
http://europepmc.org/articles/PMC7052968