Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Alexandra Salvi"'
Publikováno v:
Frontiers in Physiology, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/c14a995b479046868d2975b78fcc1256
Publikováno v:
Alcohol. 109:99-100
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::86c512c002637b3feae36489e7c1d9e4
https://doi.org/10.1016/j.alcohol.2023.03.129
https://doi.org/10.1016/j.alcohol.2023.03.129
BDNF is released from axon terminals originating in the cerebral cortex onto striatal neurons. Here, we characterized BDNF in the corticostriatal circuitry. First, we utilized Bdnf-Cre and Ribotag transgenic mouse lines to label BDNF-positive cells i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a985a5b139dcb3d255503ff2052818b6
https://doi.org/10.1101/2021.08.26.457842
https://doi.org/10.1101/2021.08.26.457842
Autor:
J. Andoni Urtizberea, Nicolas Lévy, Catherine Robert, Moiz Bakhiet, Valérie Delague, Marc Bartoli, Alexandra Salvi, Nathalie Da Silva, André Mégarbané, Cristina Skrypnyk
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1ec89e01ba6cf0786a986d410abf100
https://doi.org/10.1111/cge.13959/v3/response1
https://doi.org/10.1111/cge.13959/v3/response1
Autor:
Alexandra Salvi, Nathalie Da Silva, Nicolas Lévy, Jon Andoni Urtizberea, Marc Bartoli, Catherine Robert, André Mégarbané, Moiz Bakhiet, Valérie Delague, Cristina Skrypnyk
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, In press
HAL
Clinical Genetics, Wiley, In press
HAL
International audience; STIM1, the stromal interaction molecule 1, is the key protein for maintaining calciumconcentration in the endoplasmic reticulum by triggering the Store Operated CalciumEntry (SOCE). Bi-allelic mutations in STIM1 gene are respo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77455758ec4205d194d0c7302b6a8a40
https://hal-amu.archives-ouvertes.fr/hal-03184458v2/document
https://hal-amu.archives-ouvertes.fr/hal-03184458v2/document
Autor:
Alexandra Salvi, Eugénie Dionnet, Nathalie Da Silva, Francesca Puppo, Svetlana Gorokhova, Martin Krahn, Aurelia Defour, Marc Bartoli, Nicolas Lévy
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2020, 41 (10), pp.1797-1810. ⟨10.1002/humu.24083⟩
Human Mutation, Wiley, 2020, 41 (10), pp.1797-1810. ⟨10.1002/humu.24083⟩
Improving the accuracy of variant interpretation during diagnostic sequencing is a major goal for genomic medicine. In order to explore an often overlooked splicing effect of missense variants, we developed the functional assay (“minigene”) for t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85c16227aa851d452697d98e9ee95d4f
https://hal-amu.archives-ouvertes.fr/hal-02959280
https://hal-amu.archives-ouvertes.fr/hal-02959280
Autor:
Pascal Cintas, Emmanuelle Campana-Salort, Alexandra Salvi, A. Maues de Paula, Jérémie Mortreux, T. Stojkovic, Céline Tard, Marc Bartoli, F. Leturcq, S. Attarian, Jean Pouget, Svetlana Gorokhova, Nathalie Bonello-Palot, Mathieu Cerino, Nicolas Lévy, Mireille Cossée, Martin Krahn, R. Juntas Morales, Dimitri Renard
Publikováno v:
Neuropathology and Applied Neurobiology
Neuropathology and Applied Neurobiology, Wiley, 2020, ⟨10.1111/nan.12624⟩
Neuropathology and Applied Neurobiology, 2020, ⟨10.1111/nan.12624⟩
Neuropathology and Applied Neurobiology, Wiley, 2020, ⟨10.1111/nan.12624⟩
Neuropathology and Applied Neurobiology, 2020, ⟨10.1111/nan.12624⟩
International audience; AimsThe most common autosomal recessive limb girdle muscular dystrophy is associated with the CAPN3 gene. The exclusively recessive inheritance of this disorder has been recently challenged by the description of the recurrent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cdf736e275ca2034f875f0970d190dd
https://pubmed.ncbi.nlm.nih.gov/32342993
https://pubmed.ncbi.nlm.nih.gov/32342993