Zobrazeno 1 - 10
of 61
pro vyhledávání: '"amyotrophic lateral sclerosis/genetics"'
Publikováno v:
Biomédica: revista del Instituto Nacional de Salud, Vol 42, Iss 4, Pp 623-632 (2022)
Introduction: Amyotrophic lateral sclerosis is a neurodegenerative disease with a possible multifactorial origin characterized by the progressive degeneration of motor neurons. There is a relatively high prevalence of this disease in Antioquia; howev
Externí odkaz:
https://doaj.org/article/593ea90bac4d438bb68293b43230ad99
Publikováno v:
Frontiers in Pharmacology, Vol 13 (2022)
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that primarily affects motor neurons in the brain and spinal cord. In the recent past, there have been just two drugs approved for treatment, riluzole and edaravone, whic
Externí odkaz:
https://doaj.org/article/4ddac2dd73c843a9a04781a7971f2cff
Publikováno v:
Holm, A, Hansen, S N, Klitgaard, H & Kauppinen, S 2022, ' Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases ', RNA Biology, vol. 19, no. 1, pp. 594-608 . https://doi.org/10.1080/15476286.2022.2066334
RNA therapeutics comprise a diverse group of oligonucleotide-based drugs such as antisense oligonucleotides (ASOs), small interfering RNAs (siRNAs), and short hairpin RNAs (shRNAs) that can be designed to selectively interact with drug targets curren
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea210bd5f94a483d8b7e4fb573343f21
https://pubmed.ncbi.nlm.nih.gov/35482908
https://pubmed.ncbi.nlm.nih.gov/35482908
Akademický článek
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Autor:
Emmanuelle C Genin, Sylvie Bannwarth, Baptiste Ropert, Françoise Lespinasse, Alessandra Mauri-Crouzet, Gaelle Augé, Konstantina Fragaki, Charlotte Cochaud, Erminia Donnarumma, Sandra Lacas-Gervais, Timothy Wai, Véronique Paquis-Flucklinger
Publikováno v:
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2022, 145 (10), pp.3415-3430. ⟨10.1093/brain/awac197⟩
Brain-A Journal of Neurology, 2022, 145 (10), pp.3415-3430. ⟨10.1093/brain/awac197⟩
CHCHD10 is an amyotrophic lateral sclerosis/frontotemporal dementia gene that encodes a mitochondrial protein whose precise function is unclear. Here we show that Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing protein 10 interacts with the Sto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43e4acee00dfd65b95c24c9f606e3ce2
https://pubmed.ncbi.nlm.nih.gov/35656794
https://pubmed.ncbi.nlm.nih.gov/35656794
Autor:
Bercier, Valérie, Hubbard, Jeffrey M., Fidelin, Kevin, Duroure, Karine, Auer, Thomas O., Revenu, Céline, Wyart, Claire, Del Bene, Filippo
Publikováno v:
Molecular Neurodegeneration, Vol 14, Iss 1, Pp 1-22 (2019)
Molecular Neurodegeneration
Molecular Neurodegeneration, BioMed Central, 2019, 14 (1), pp.27. ⟨10.1186/s13024-019-0327-3⟩
Molecular Neurodegeneration, 2019, 14 (1), pp.27. ⟨10.1186/s13024-019-0327-3⟩
Molecular neurodegeneration, vol. 14, no. 1, pp. 27
Molecular Neurodegeneration
Molecular Neurodegeneration, BioMed Central, 2019, 14 (1), pp.27. ⟨10.1186/s13024-019-0327-3⟩
Molecular Neurodegeneration, 2019, 14 (1), pp.27. ⟨10.1186/s13024-019-0327-3⟩
Molecular neurodegeneration, vol. 14, no. 1, pp. 27
Background Dynactin subunit 1 is the largest subunit of the dynactin complex, an activator of the molecular motor protein complex dynein. Reduced levels of DCTN1 mRNA and protein have been found in sporadic amyotrophic lateral sclerosis (ALS) patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e16a0b2482d551dc2788c6c0d0305403
http://link.springer.com/article/10.1186/s13024-019-0327-3
http://link.springer.com/article/10.1186/s13024-019-0327-3
Publikováno v:
Biomédica, Volume: 42, Issue: 4, Pages: 623-632, Published: 01 DEC 2022
Introduction: Amyotrophic lateral sclerosis is a neurodegenerative disease with a possible multifactorial origin characterized by the progressive degeneration of motor neurons. There is a relatively high prevalence of this disease in Antioquia; howev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8316c6509f1b55c07d2646b5db1987f2
https://pubmed.ncbi.nlm.nih.gov/36511680
https://pubmed.ncbi.nlm.nih.gov/36511680
Autor:
Vincenzo Silani, Mamede de Carvalho, Nicola Ticozzi, Joke J.F.A. van Vugt, Kristel R. van Eijk, Patrick Vourc'h, Markus Weber, Wouter van Rheenen, Kevin P. Kenna, Christopher Shaw, Wim Robberecht, Philippe Couratier, Mònica Povedano, Jonathan D. Glass, Pamela J. Shaw, Ramona A. J. Zwamborn, Ammar Al-Chalabi, John Landers, Michael A. Eberle, Michael A. van Es, Xiao Chen, Leonard H. van den Berg, Brendan J. Kenna, Philippe Corcia, Karen E. Morrison, Marc Gotkine, Russell McLaughin, Peter M. Andersen, Matthieu Moisse, Philip Van Damme, Rick A.A. van der Spek, Jesus S. Mora Pardina, Orla Hardiman, Vivian E. Drory, Jan H. Veldink, Nazli Basak
Publikováno v:
Annals of Neurology
Annals of Neurology, Wiley, 2021, 89 (4), pp.686-697. ⟨10.1002/ana.26009⟩
Moisse, M, Zwamborn, R A J, van Vugt, J, van der Spek, R, van Rheenen, W, Kenna, B, Van Eijk, K, Kenna, K, Corcia, P, Couratier, P, Vourc'h, P, Hardiman, O, McLaughin, R, Gotkine, M, Drory, V, Ticozzi, N, Silani, V, de Carvalho, M, Mora Pardina, J S, Povedano, M, Andersen, P M, Weber, M, Başak, N A, Chen, X, Eberle, M A, Al-Chalabi, A, Shaw, C, Shaw, P J, Morrison, K E, Landers, J E, Glass, J D, Robberecht, W, van Es, M, van den Berg, L, Veldink, J & Van Damme, P 2021, ' The Effect of SMN Gene Dosage on ALS Risk and Disease Severity ', Annals of neurology, vol. 89, no. 4, pp. 686-697 . https://doi.org/10.1002/ana.26009
Annals of Neurology, Wiley, 2021, 89 (4), pp.686-697. ⟨10.1002/ana.26009⟩
Moisse, M, Zwamborn, R A J, van Vugt, J, van der Spek, R, van Rheenen, W, Kenna, B, Van Eijk, K, Kenna, K, Corcia, P, Couratier, P, Vourc'h, P, Hardiman, O, McLaughin, R, Gotkine, M, Drory, V, Ticozzi, N, Silani, V, de Carvalho, M, Mora Pardina, J S, Povedano, M, Andersen, P M, Weber, M, Başak, N A, Chen, X, Eberle, M A, Al-Chalabi, A, Shaw, C, Shaw, P J, Morrison, K E, Landers, J E, Glass, J D, Robberecht, W, van Es, M, van den Berg, L, Veldink, J & Van Damme, P 2021, ' The Effect of SMN Gene Dosage on ALS Risk and Disease Severity ', Annals of neurology, vol. 89, no. 4, pp. 686-697 . https://doi.org/10.1002/ana.26009
Objective: the role of the survival of motor neuron (SMN) gene in amyotrophic lateral sclerosis (ALS) is unclear, with several conflicting reports. A decisive result on this topic is needed, given that treatment options are available now for SMN defi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3715c4d9f16d388386c6a85027bec3ed
http://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/9307
http://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/9307
Akademický článek
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Autor:
Jennifer Roggenbuck, Haikady N. Nagaraja, Stephen J. Kolb, Karin N. Wagner, Dawn C. Allain, Adam Quick
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Amyotrophic lateral sclerosis (ALS) is increasingly recognized as a genetic disease. There is no consensus, however, as to the role of genetic testing in the care of the ALS patient. Methods We conducted a survey to study patient access, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1df63663f0a8065692a0a05ae1470dc3
https://doi.org/10.1002/mgg3.360
https://doi.org/10.1002/mgg3.360