Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Ilhem Ben Youssef‐Turki"'
Autor:
Ichraf Kraoua, Maha Jamoussi, Cyrine Drissi, Lilia Kraoua, Séverine Drunat, Hanene Benrhouma, Thouraya Ben Younes, Sonia Nagi, Sonia Abdelhak, Odile Boespflug Tanguy, Ilhem Ben Youssef‐Turki, Mediha Trabelsi, Imen Dorboz
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 10, Pp n/a-n/a (2024)
ABSTRACT Background POLIII‐related leukodystrophies are a group of recently recognized hereditary white matter diseases with a similar clinical and radiological phenotype. No Tunisian studies have been published about POLIII‐related leukodystroph
Externí odkaz:
https://doaj.org/article/42e56d894f30444d9f78ebe123d5a36b
Autor:
Ismail Gouiza, Meriem Hechmi, Abir Zioudi, Hamza Dallali, Nadia Kheriji, Majida Charif, Morgane Le Mao, Said Galai, Lilia Kraoua, Ilhem Ben Youssef-Turki, Ichraf Kraoua, Guy Lenaers, Rym Kefi
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Introduction: Inherited mitochondrial diseases are the most common group of metabolic disorders caused by a defect in oxidative phosphorylation. They are characterized by a wide clinical and genetic spectrum and can manifest at any age. In this study
Externí odkaz:
https://doaj.org/article/d0d0662ffbeb44a0b3f31c44fdd41dc5
Autor:
Hedia Klaa, Thouraya Ben Younes, Hanene Benrhouma, Sonia Nagi, Aida Rouissi, Ichraf Kraoua, Ilhem Ben Youssef-Turki
Publikováno v:
Case Reports in Neurological Medicine, Vol 2020 (2020)
Rasmussen’s encephalitis (RE) is a rare progressive inflammatory disease of the central nervous system. It is characterized by unilateral hemispheric atrophy, pharmacoresistant focal seizures, and progressive neurological deficit. The exact etiopat
Externí odkaz:
https://doaj.org/article/27181193de8146b59e490f00664dab27
Autor:
Thouraya Ben Younes, Ichraf Kraoua, Sarah Snanoudj, Hedia Klaa, Hanene Benrhouma, Aida Rouissi, Catherine Caillaud, Myriam Chaabouni, Najoua Miladi, Soumeya Bekri, Ilhem Ben Youssef‐Turki
Publikováno v:
Clinical Genetics. 102:157-160
Our study included 13 patients diagnosed with neuronal ceroidlipofuscinosis. It is a group of rare genetically-determined neurodegenerativediseases characterized by clinical and genetic heterogeneity. brain MRI andelectroencephalogram facilitate diag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0e594bee9d19faa2666095d5da8eeff
https://doi.org/10.1111/cge.14145
https://doi.org/10.1111/cge.14145
Autor:
Aicha Kalfat, Abir Zioudi, Kraoua Ichraf, Thouraya Ben Younes, Hedia Klaa, Zouhour Miladi, Hanene Benrhouma, Ilhem Ben Youssef-Turki
Publikováno v:
Revue Neurologique. 179:S38-S39
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::20e57824419863f8dddf44674b48b205
https://doi.org/10.1016/j.neurol.2023.01.077
https://doi.org/10.1016/j.neurol.2023.01.077
Autor:
Nadia Sallem, Thouraya Ben Younes, Hanene Benrhouma, Abir Zioudi, Hedia Klaa, Zouhour Miladi, Kraoua Ichraf, Ilhem Ben Youssef Turki
Publikováno v:
Revue Neurologique. 179:S127-S128
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b214ac6ec256afb4ffc604cdb6264007
https://doi.org/10.1016/j.neurol.2023.01.619
https://doi.org/10.1016/j.neurol.2023.01.619
Autor:
Meriem Hechmi, Majida Charif, Ichraf Kraoua, Meriem Fassatoui, Hamza Dallali, Valerie Desquiret-Dumas, Céline Bris, David Goudenège, Cyrine Drissi, Saïd Galaï, Slah Ouerhani, Vincent Procaccio, Patrizia Amati-Bonneau, Sonia Abdelhak, Ilhem Ben Youssef-Turki, Guy Lenaers, Rym Kefi
Publikováno v:
Bioscience Reports. 42
Mitochondrial cytopathies, among which the Leigh syndrome (LS), are caused by variants either in the mitochondrial or the nuclear genome, affecting the oxidative phosphorylation process. The aim of the present study consisted in defining the molecula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89524c365fc654299738efffc19f7b3b
https://doi.org/10.1042/bsr20220194
https://doi.org/10.1042/bsr20220194
Autor:
Claire Pujol, Elise Lebigot, Pauline Gaignard, Said Galai, Ichraf Kraoua, Jean-Philippe Bault, Rodolphe Dard, Ilhem Ben Youssef-Turki, Souheil Omar, Audrey Boutron, Timothy Wai, Abdelhamid Slama
Publikováno v:
Research Square
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2022, pp.awac444. ⟨10.1093/brain/awac444⟩
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2022, pp.awac444. ⟨10.1093/brain/awac444⟩
Pyruvate is an essential metabolite produced by the glycolytic pathway in the cytosol and must be transported across the inner mitochondrial membrane (IMM) into the mitochondrial matrix, where it is oxidized to fuel mitochondrial respiration. Pyruvat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2905a31027effd69b8b3948dc6195903
https://pubmed.ncbi.nlm.nih.gov/36417180
https://pubmed.ncbi.nlm.nih.gov/36417180
Autor:
Athina, Ververi, Sara, Zagaglia, Lara, Menzies, Julia, Baptista, Richard, Caswell, Stephanie, Baulac, Sian, Ellard, Sally, Lynch, Genomics England Research, Consortium, Thomas S, Jacques, Maninder Singh, Chawla, Martin, Heier, Mari Ann, Kulseth, Inger-Lise, Mero, Anne Katrine, Våtevik, Ichraf, Kraoua, Hanene Ben, Rhouma, Thouraya Ben, Younes, Zouhour, Miladi, Ilhem Ben Youssef, Turki, Wendy D, Jones, Emma, Clement, Christin, Eltze, Kshitij, Mankad, Ashirwad, Merve, Jennifer, Parker, Bethan, Hoskins, Ronit, Pressler, Sniya, Sudhakar, Catherine, DeVile, Tessa, Homfray, Marios, Kaliakatsos, Prab Prabhakar, Ponnudas, Robert, Robinson, Sara Margrete Bøen, Keim, Imen, Habibi, Alexandre, Reymond, Sanjay M, Sisodiya, Jane A, Hurst
Publikováno v:
Human molecular genetics.
DEPDC5 (DEP Domain-Containing Protein 5) encodes an inhibitory component of the mammalian target of rapamycin (mTOR) pathway and is commonly implicated in sporadic and familial focal epilepsies, both non-lesional and in association with focal cortica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08d4781974a4cf55dfee7810558b2219
https://pubmed.ncbi.nlm.nih.gov/36067010
https://pubmed.ncbi.nlm.nih.gov/36067010
Autor:
Aicha Kalfat, Thouraya Ben Younes, Hanene Benrhouma, Hedia Klaa, Abir Zioudi, Zouhour Miladi, Kraoua Ichraf, Ilhem Ben Youssef-Turki
Publikováno v:
Revue Neurologique. 179:S112
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6430fe5dfef7d279cf6ed70ea740d44
https://doi.org/10.1016/j.neurol.2023.01.588
https://doi.org/10.1016/j.neurol.2023.01.588