Zobrazeno 1 - 5
of 5
pro vyhledávání: '"multisystem proteinopathy (msp)"'
Autor:
Gina Picchiarelli, Luc Dupuis
Publikováno v:
Cell Stress, Vol 4, Iss 4, Pp 76-91 (2020)
A number of neuromuscular and muscular diseases, including amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA) and several myopathies, are associated to mutations in related RNA-binding proteins (RBPs), including TDP-43, FUS, MATR3 or
Externí odkaz:
https://doaj.org/article/072c60ac4c9d47aba661d5b547e13459
Autor:
Picchiarelli, Gina, Dupuis, Luc
Publikováno v:
Cell Stress
Cell Stress, Shared Science Publishers OG, 2020, 4 (4), pp.76-91. ⟨10.15698/cst2020.04.217⟩
Cell Stress, 2020, 4 (4), pp.76-91. ⟨10.15698/cst2020.04.217⟩
Cell Stress, Vol 4, Iss 4, Pp 76-91 (2020)
Cell Stress, Shared Science Publishers OG, 2020, 4 (4), pp.76-91. ⟨10.15698/cst2020.04.217⟩
Cell Stress, 2020, 4 (4), pp.76-91. ⟨10.15698/cst2020.04.217⟩
Cell Stress, Vol 4, Iss 4, Pp 76-91 (2020)
International audience; A number of neuromuscular and muscular diseases, including amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA) and several myopathies, are associated to mutations in related RNA-binding proteins (RBPs), includin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1e7396c6d3e06664a66a1c832369c4e7
https://www.hal.inserm.fr/inserm-03376301/document
https://www.hal.inserm.fr/inserm-03376301/document
Autor:
Al-Obeidi, E., Al-Tahan, S., Surampalli, A., Goyal, N., Wang, A. K., Hermann, A., Omizo, M., Smith, C., Mozaffar, T., Kimonis, V.
Publikováno v:
Al-Obeidi, E; Al-Tahan, S; Surampalli, A; Goyal, N; Wang, AK; Hermann, A; et al.(2018). Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy. CLINICAL GENETICS, 93(1), 119-125. doi: 10.1111/cge.13095. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/2vs1j696
Clinical genetics 93(1), 119-125 (2017). doi:10.1111/cge.13095
Clinical genetics 93(1), 119-125 (2017). doi:10.1111/cge.13095
Mutations in valosin-containing protein (VCP), an ATPase involved in protein degradation and autophagy, cause VCP disease, a progressive autosomal dominant adult onset multisystem proteinopathy. The goal of this study is to examine if phenotypic diff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::dbf0da5638f107a6b2c0891d59f4f3ea
http://www.escholarship.org/uc/item/2vs1j696
http://www.escholarship.org/uc/item/2vs1j696
Autor:
Picchiarelli G; Université de Strasbourg, INSERM, Mécanismes Centraux et Périphériques de la Neurodégénérescence, UMR_S 1118, Strasbourg, France., Dupuis L; Université de Strasbourg, INSERM, Mécanismes Centraux et Périphériques de la Neurodégénérescence, UMR_S 1118, Strasbourg, France.
Publikováno v:
Cell stress [Cell Stress] 2020 Mar 10; Vol. 4 (4), pp. 76-91. Date of Electronic Publication: 2020 Mar 10.
Autor:
Al-Obeidi E; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Orange, California., Al-Tahan S; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Orange, California., Surampalli A; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Orange, California., Goyal N; Neuromuscular Program, Department of Neurology, University of California, Irvine, Orange, California., Wang AK; Neuromuscular Program, Department of Neurology, University of California, Irvine, Orange, California., Hermann A; Department of Neurology, Technische Universität Dresden, and German Center for Neurodegenerative Diseases (DZNE), Research Side Dresden, 01307 Dresden, Germany., Omizo M; Deschutes Osteoporosis Center, Bend, Oregon., Smith C; Department of Neurology, University of Kentucky Medical School, Lexington, Kentucky., Mozaffar T; Neuromuscular Program, Department of Neurology, University of California, Irvine, Orange, California., Kimonis V; Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Orange, California.
Publikováno v:
Clinical genetics [Clin Genet] 2018 Jan; Vol. 93 (1), pp. 119-125.