Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Hala Alzaeem"'
Autor:
Lucie Crouzier, Elodie M. Richard, Camille Diez, Morgane Denus, Amandine Peyrel, Hala Alzaeem, Nicolas Cubedo, Thomas Delaunay, Tangui Maurice, Benjamin Delprat
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 295-308 (2022)
Wolfram syndrome (WS) is a rare neurodegenerative disease resulting in deafness, optic atrophy, diabetes, and neurological disorders. Currently, no treatment is available for patients. The mutated gene, WFS1, encodes an endoplasmic reticulum (ER) pro
Externí odkaz:
https://doaj.org/article/8a0f00345eee450bbc8aff2f87918237
Autor:
Lucie Crouzier, Elodie M Richard, Camille Diez, Hala Alzaeem, Morgane Denus, Nicolas Cubedo, Thomas Delaunay, Emily Glendenning, Sarah Baxendale, Jean-Charles Liévens, Tanya T Whitfield, Tangui Maurice, Benjamin Delprat
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, 2022, 31 (16), pp.2711-2727. ⟨10.1093/hmg/ddac065⟩
Human Molecular Genetics, 2022, 31 (16), pp.2711-2727. ⟨10.1093/hmg/ddac065⟩
Wolfram syndrome (WS) is a rare genetic disease characterized by diabetes, optic atrophy and deafness. Patients die at 35 years of age, mainly from respiratory failure or dysphagia. Unfortunately, there is no treatment to block the progression of sym
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::264676d4c05fd25524ac45972707366f
https://hal.umontpellier.fr/hal-03757700
https://hal.umontpellier.fr/hal-03757700
