Zobrazeno 1 - 10
of 133
pro vyhledávání: '"Franck, Sturtz"'
Autor:
Bérénice Hebrard, Marie-Lise Babonneau, Philippe Charron, Emilie Consolino, Benjamin Dauriat, Delphine Dupin-Deguine, Dominique Fargeaud, Agnès Farrugia, Anna-Gaëlle Giguet-Valard, Damien Guijarro, Jocelyn Inamo, Julien Jeanneteau, Jean-Michaël Mazzella, Claire-Cécile Michon, Gilles Millat, Frédéric Mouquet, Silvia Oghina, Yann Pereon, Vianney Poinsignon, Julie Pompougnac, Julie Proukhnitzky, Elise Schaefer, Franck Sturtz, Mathilde Trosdorf, Anne Auguste, Giorgia Canali, Alexandre Combes, Benoît Funalot, Thibaud Damy
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-7 (2024)
Abstract Transthyretin amyloidosis (ATTR) is a severe and rare disease characterized by the progressive deposition of misfolded transthyretin proteins, causing irreversible organ damage. Transthyretin amyloidosis can present as a hereditary ATTR or a
Externí odkaz:
https://doaj.org/article/6837d07291f54d4ca8e62c50336819cd
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:
Amandine Bernard, Mohamad Mroué, Sylvie Bourthoumieu, Malcolm Boyce, Laurence Richard, Franck Sturtz, Claire Demiot, Aurore Danigo
Publikováno v:
Pharmaceuticals, Vol 17, Iss 2, p 144 (2024)
Among the vinca-alkaloid class, vincristine is a potent chemotherapeutic agent with significant neurotoxic effects and is employed to address a wide spectrum of cancer types. Recently, the therapeutic potential of the cholecystokinin type 2 receptor
Externí odkaz:
https://doaj.org/article/0e39ca0e5f31463e81bc1e2f6a015c0f
Autor:
Mohamad Mroué, Flavien Bessaguet, Angélique Nizou, Laurence Richard, Franck Sturtz, Laurent Magy, Sylvie Bourthoumieu, Aurore Danigo, Claire Demiot
Publikováno v:
Pharmaceutics, Vol 16, Iss 1, p 139 (2024)
The occurrence of neuropathic pain in chemotherapy-induced peripheral neuropathy (CIPN) is a major dose-limiting effect of many commonly-used anticancer agents. Polyvalent human immunoglobulins (hIg), used in the treatment of several peripheral neuro
Externí odkaz:
https://doaj.org/article/e9dd2cc70411450b881a9ba7a395e647
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:
Maxime Lafontaine, Anne‐Sophie Lia, Sylvie Bourthoumieu, Hélène Beauvais‐Dzugan, Paco Derouault, Marie‐Christine Arné‐Bes, Catherine Sarret, Fanny Laffargue, Armelle Magot, Franck Sturtz, Laurent Magy, Corinne Magdelaine
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 471-476 (2021)
Abstract We describe the clinical, electrodiagnostic, and genetic findings of three homozygous FIG4‐c.122T>C patients suffering from Charcot‐Marie‐Tooth disease type 4J (AR‐CMT‐FIG4). This syndrome usually involves compound heterozygosity a
Externí odkaz:
https://doaj.org/article/f6c2da330a8a466eb333ead662ffe8a4
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:
Amandine Bernard, Aurore Danigo, Mohamad Mroué, Amandine Rovini, Laurence Richard, Angélique Nizou, Alexis Desmoulière, Franck Sturtz, Claire Demiot, Sylvie Bourthoumieu
Publikováno v:
Pharmaceutics, Vol 14, Iss 12, p 2823 (2022)
Vincristine (VCR) is responsible for the onset of the VCR-induced peripheral neuropathy (VIPN), associated with neuropathic pain. Several reports have strongly linked the cholecystokinin type 2 receptor (CCK2R) to nociceptive modulation. Thus, our ai
Externí odkaz:
https://doaj.org/article/2e92269a3139401c90be29b1ae67588d
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:
Robin Chautard, Cécile Laroche-Raynaud, Anne-Sophie Lia, Pauline Chazelas, Paco Derouault, Franck Sturtz, Yasser Baaj, Alice Veauville-Merllié, Cécile Acquaviva, Frédéric Favreau, Pierre-Antoine Faye
Publikováno v:
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-6 (2020)
Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids and amino acids oxidation, with recessive autosomal transmission. The prevalenc
Externí odkaz:
https://doaj.org/article/f82f78f6f14a4d479ed7ed90ec0b8056