Zobrazeno 1 - 10
of 23
pro vyhledávání: '"SMA, spinal muscular atrophy"'
Autor:
Rupesh Kumar, Shazia Haider
Publikováno v:
IBRO Neuroscience Reports, Vol 12, Iss, Pp 25-44 (2022)
IBRO Neuroscience Reports
IBRO Neuroscience Reports
Amyotrophic Lateral Sclerosis (ALS) is a fatal disease, progressive nature characterizes by loss of both upper and lower motor neuron functions. One of the major challenge is to understand the mechanism of ALS multifactorial nature. We aimed to explo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c23dbfa5e2c81d371bd122e6d9e27c4d
https://doi.org/10.1016/j.ibneur.2021.12.002
https://doi.org/10.1016/j.ibneur.2021.12.002
Autor:
Bernard L. Schneider, Rashmi Kothary, Maica Llavero-Hurtado, Thomas H. Gillingwater, Abdelmadjid Atrih, Alexandra Tierney, Jean Michaud, Ariane Beauvais, Thomas M. Wishart, Lucia Chehade, Marc-Olivier Deguise, Douglas J. Lamont, Simon H. Parson, Yves De Repentigny, Mary-Ellen Harper, Chantal A. Pileggi
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 12, Iss 1, Pp 354-377.e3 (2021)
Cellular and Molecular Gastroenterology and Hepatology
Deguise, M-O, Pileggi, C, De Repentigny, Y, Beauvais, A, Tierney, A, Chehade, L, Michaud, J, Llavero hurtado, M, Lamont, D, Atrih, A, Wishart, T, Gillingwater, T, Schneider, B L, Harper, M-E, Parson, S & Kothary, R 2021, ' SMN depleted mice offer a robust and rapid onset model of non-alcoholic fatty liver disease ', Cellular and Molecular Gastroenterology and Hepatology . https://doi.org/10.1016/j.jcmgh.2021.01.019
Cellular and Molecular Gastroenterology and Hepatology
Deguise, M-O, Pileggi, C, De Repentigny, Y, Beauvais, A, Tierney, A, Chehade, L, Michaud, J, Llavero hurtado, M, Lamont, D, Atrih, A, Wishart, T, Gillingwater, T, Schneider, B L, Harper, M-E, Parson, S & Kothary, R 2021, ' SMN depleted mice offer a robust and rapid onset model of non-alcoholic fatty liver disease ', Cellular and Molecular Gastroenterology and Hepatology . https://doi.org/10.1016/j.jcmgh.2021.01.019
Background & Aims Nonalcoholic fatty liver disease (NAFLD) is considered a health epidemic with potential devastating effects on the patients and the healthcare systems. Current preclinical models of NAFLD are invariably imperfect and generally take
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7a717cf593f4034226b292cb0ee07cc
http://www.sciencedirect.com/science/article/pii/S2352345X21000254
http://www.sciencedirect.com/science/article/pii/S2352345X21000254
Autor:
Katharina Vill, Carsten Bergmann, Sonja Froschauer, Katharina Hohenfellner, Bernd Olgemöller, Nils Janzen, Siegfried Burggraf, Erik Harms, Tobias Fleige, Wulf Röschinger, Ludwig Czibere, Uta Nennstiel, William A. Gahl
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Background: Newborn screening (NBS) programs for treatable metabolic disorders have been enormously successful, but molecular-based screening has not been broadly implemented so far. Methods: This prospective pilot study was performed within the Germ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd5c4843d120f2d4f679122e34b8e831
http://www.sciencedirect.com/science/article/pii/S2214426919301417
http://www.sciencedirect.com/science/article/pii/S2214426919301417
Autor:
Rabab Debs, Jean-Yves Hogrel, Gaëlle Bruneteau, Tanya Stojkovic, Maria del Mar Amador, Julien Cohen-Adad, Lucette Lacomblez, David Devos, Nadine Le Forestier, Peter Bede, Timothée Lenglet, Menghan Li, Sophie Blancho, Pierre-François Pradat, Pascal Laforêt, Anthony Behin, François Salachas, Habib Benali, Martin Catala, Véronique Marchand-Pauvert, Mohamed-Mounir El Mendili, Stéphane Lehéricy, Vincent Meininger, Giorgia Querin
Publikováno v:
Neuroimage-Clinical
Neuroimage-Clinical, Elsevier, 2019, 21, pp.101618. ⟨10.1016/j.nicl.2018.101618⟩
Neuroimage-Clinical, 2019, 21, pp.101618. ⟨10.1016/j.nicl.2018.101618⟩
NeuroImage : Clinical
NeuroImage: Clinical, Vol 21, Iss, Pp-(2019)
Neuroimage-Clinical, Elsevier, 2019, 21, pp.101618. ⟨10.1016/j.nicl.2018.101618⟩
Neuroimage-Clinical, 2019, 21, pp.101618. ⟨10.1016/j.nicl.2018.101618⟩
NeuroImage : Clinical
NeuroImage: Clinical, Vol 21, Iss, Pp-(2019)
Spinal muscular atrophy (SMA) type III and IV are autosomal recessive, slowly progressive lower motor neuron syndromes. Nevertheless, wider cerebral involvement has been consistently reported in mouse models. The objective of this study is the charac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6d677f059efc03030b5919d29d82dbe
https://hal.sorbonne-universite.fr/hal-02090969
https://hal.sorbonne-universite.fr/hal-02090969
Autor:
Domenico Albano, Andrea Barp, Eugenio Mercuri, Vito Chianca, Christian Lunetta, Francesca Salmin, Giacomo P. Comi, Emilio Albamonte, Elena Carraro, Luca Maria Sconfienza, Valeria A. Sansone, Carmelo Messina
Publikováno v:
Journal of the Neurological Sciences
Introduction The effects of nusinersen in adults with SMA rely on neuromotor function scales and qualitative assessments. There are limited clinical or imaging data on muscle changes over time. Methods Two adult SMA patients underwent clinical assess
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a9ef3119d96237c614d54433936b0a0
http://europepmc.org/articles/PMC7388822
http://europepmc.org/articles/PMC7388822
Akademický článek
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Autor:
Kathleen G. Valentine, Cecilia Tommos, Veronica R. Moorman, Kathryn L. Sarachan, A. Joshua Wand, John M. Gledhill, Kushol Gupta, Matthew Bernens, Gregory D. Van Duyne
Publikováno v:
Biochemical Journal
In humans, assembly of spliceosomal snRNPs (small nuclear ribonucleoproteins) begins in the cytoplasm where the multi-protein SMN (survival of motor neuron) complex mediates the formation of a seven-membered ring of Sm proteins on to a conserved site
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e7eeb4f6fca3bebbdbf4822a1e83388
https://doi.org/10.1042/bj20120241
https://doi.org/10.1042/bj20120241
Autor:
Helena Kočová
Publikováno v:
e-Pedagogium. 10:38-47
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1e135260af502d0f1a06204fdea0f9a2
https://doi.org/10.5507/epd.2010.033
https://doi.org/10.5507/epd.2010.033
Autor:
Mark Arnholt, Gabrielle Rigden, Jessica Griesmer, Kayla Erickson, Megan Heimermann, Brandy Lewandowski, Mary Daley, Olivia Hoffman, Mark T. McNally, Julia Loosen
Publikováno v:
The FASEB Journal. 28
Spinal muscular atrophy (SMA) is a genetic disorder leading to death before age two. This is caused by degeneration of motor neurons in the spine and affects one in six thousand babies yearly (Fami...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72677b8db5a11a253edc2c46a1cf2d89
https://doi.org/10.1096/fasebj.28.1_supplement.lb94
https://doi.org/10.1096/fasebj.28.1_supplement.lb94
Autor:
Andrew G L, Douglas, Matthew J A, Wood
Publikováno v:
Molecular and Cellular Neurosciences
Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) are two of the most common inherited neuromuscular diseases in humans. Both conditions are fatal and no clinically available treatments are able to significantly alter disease course
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3589d26a22faffebd4c39812822aab8a
https://pubmed.ncbi.nlm.nih.gov/23631896
https://pubmed.ncbi.nlm.nih.gov/23631896