Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Ioanna, Pyromali"'
Autor:
Camille Loret, Amandine Pauset, Pierre-Antoine Faye, Valérie Prouzet-Mauleon, Ioanna Pyromali, Angélique Nizou, Federica Miressi, Franck Sturtz, Frédéric Favreau, Béatrice Turcq, Anne-Sophie Lia
Publikováno v:
Biomedicines, Vol 12, Iss 7, p 1550 (2024)
Human induced pluripotent stem cells (hiPSCs) represent a powerful tool to investigate neuropathological disorders in which the cells of interest are inaccessible, such as in the Charcot–Marie–Tooth disease (CMT), the most common inherited periph
Externí odkaz:
https://doaj.org/article/9f8357a02465470db1feada18e9ab430
Autor:
Nesrine Benslimane, Federica Miressi, Camille Loret, Laurence Richard, Angélique Nizou, Ioanna Pyromali, Pierre-Antoine Faye, Frédéric Favreau, Fabrice Lejeune, Anne-Sophie Lia
Publikováno v:
Pharmaceuticals, Vol 16, Iss 7, p 1034 (2023)
Nonsense mutations are involved in multiple peripheral neuropathies. These mutations induce the presence of a premature termination codon (PTC) at the mRNA level. As a result, a dysfunctional or truncated protein is synthesized, or even absent linked
Externí odkaz:
https://doaj.org/article/4fcd4e5b984e4e5596c80ec1ced643e1
Autor:
Ioanna Pyromali, Laurence Richard, Paco Derouault, Jean-Michel Vallat, Karima Ghorab, Corinne Magdelaine, Franck Sturtz, Frédéric Favreau, Anne-Sophie Lia
Publikováno v:
Biomedicines, Vol 11, Iss 6, p 1565 (2023)
Hereditary sensory neuropathies (HSN) are a heterogenous group of sensory neuropathies. Mutations in ATL3 have been described in patients presenting with hereditary sensory neuropathy IF (HSN1F), a subtype of HSN. Herein, by analyzing targeted-NGS da
Externí odkaz:
https://doaj.org/article/38396eaa0d3e49e9a51bb45d20ac9caa
Autor:
Ioanna Pyromali, Alexandre Perani, Angélique Nizou, Nesrine Benslimane, Paco Derouault, Sylvie Bourthoumieu, Mélanie Fradin, Guilhem Sole, Fanny Duval, Constantin Gomes, Frédéric Favreau, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 19, Iss , Pp 4265-4272 (2021)
Next-generation sequencing (NGS) allows the detection of mutations in inherited genetic diseases, like the Charcot-Marie-Tooth disease (CMT) which is the most common hereditary peripheral neuropathy. The majority of mutations detected by NGS are sing
Externí odkaz:
https://doaj.org/article/7e358b27452f44e59045c62065768904
Autor:
Federica Miressi, Pierre-Antoine Faye, Ioanna Pyromali, Sylvie Bourthoumieux, Paco Derouault, Marie Husson, Frédéric Favreau, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 18, Iss , Pp 2095-2099 (2020)
Next Generation Sequencing (NGS) using capture or amplicons strategies allows the detection of a large number of mutations increasing the rate of positive diagnosis for the patients. However, most of the detected mutations are Single Nucleotide Varia
Externí odkaz:
https://doaj.org/article/3df217712c8f4bfbb077490f2f9795bf
Autor:
Corinne Magdelaine, Ioanna Pyromali, Marie Husson, Paco Derouault, Frédéric Favreau, Pierre-Antoine Faye, Sylvie Bourthoumieux, Anne-Sophie Lia, Franck Sturtz, Federica Miressi
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 18, Iss, Pp 2095-2099 (2020)
Computational and Structural Biotechnology Journal
Computational and Structural Biotechnology Journal, Elsevier, 2020, 18, pp.2095-2099. ⟨10.1016/j.csbj.2020.07.021⟩
Computational and Structural Biotechnology Journal
Computational and Structural Biotechnology Journal, Elsevier, 2020, 18, pp.2095-2099. ⟨10.1016/j.csbj.2020.07.021⟩
International audience; Next Generation Sequencing (NGS) using capture or amplicons strategies allows the detection of a large number of mutations increasing the rate of positive diagnosis for the patients. However, most of the detected mutations are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe6443e08989c08a7344c90042d0f7fe
https://doi.org/10.1016/j.csbj.2020.07.021
https://doi.org/10.1016/j.csbj.2020.07.021
Autor:
Ioanna Pyromali, Nesrine Benslimane, Frédéric Favreau, Cyril Goizet, Leila Lazaro, Martine Vitry, Paco Derouault, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia
Publikováno v:
Journal of Personalized Medicine; Volume 12; Issue 2; Pages: 212
Next-generation sequencing (NGS) allows the detection of plentiful mutations increasing the rate of patients getting a positive diagnosis. However, while single-nucleotide variants (SNVs) or small indels can be easily detected, structural variations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64c8c3e0e826ba33305a87647b440d32
https://doi.org/10.3390/jpm12020212
https://doi.org/10.3390/jpm12020212