Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ghada El Euch-Fayache"'
Autor:
Ghada El Euch-Fayache, Moncef Feki, Rim Amouri, Houda Nehdi, Wieme Maamouri-Hicheri, Monia B. Hammer, Fayçal Hentati
Publikováno v:
Journal of Clinical Neuroscience. 21:311-315
Abetalipoproteinemia (ABL) is a rare monogenic disease characterized by very low plasma levels of cholesterol and triglyceride and almost complete absence of apolipoprotein B (apoB)-containing lipoproteins. Typically, patients present with failure to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3ae734ffe529e5ae81b82c915cacfd7
https://doi.org/10.1016/j.jocn.2013.04.016
https://doi.org/10.1016/j.jocn.2013.04.016
Publikováno v:
Brain. 137:402-410
Ataxia with vitamin E deficiency is an autosomal recessive cerebellar ataxia caused by mutations in the α-tocopherol transfer protein coding gene localized on chromosome 8q, leading to lower levels of serum vitamin E. More than 91 patients diagnosed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2870f11526b3ddfed20725b348db79f7
https://doi.org/10.1093/brain/awt339
https://doi.org/10.1093/brain/awt339
Autor:
Fatma Nabli, Ghada El Euch-Fayache, Yosr Bouhlal, Monia B. Hammer, Amira Nasri, Houda Nehdi, Fayçal Hentati, Wieme Maamouri-Hicheri, Dalel Saidi, Rim Amouri
Publikováno v:
Diagnostic molecular pathology : the American journal of surgical pathology, part B. 21(4)
Ataxia with oculomotor apraxia type 2 (AOA2) is a recently described autosomal recessive cerebellar ataxia caused by mutations in the SETX gene. It is a rare monogenic disease characterized by progressive cerebellar ataxia, oculomotor apraxia, axonal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d09d869480537be0a10810a2668c020
https://pubmed.ncbi.nlm.nih.gov/23111195
https://pubmed.ncbi.nlm.nih.gov/23111195
Autor:
Wu Yen Hung, Rim Amouri, Teepu Siddique, Irfan Lalani, Karim Ouahchi, Samir Belal, Ghada El Euch-Fayache, Fayçal Hentati, Ilhem Turki
Publikováno v:
Archives of neurology. 60(7)
Background Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a clinically homogenous disorder reported in Quebec caused by mutations in the SACS gene (chromosome 13q12). Recently, we identified a Tunisian kindred demonstrating lin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae73f58f16228b0cc9e56acc22e53888
https://pubmed.ncbi.nlm.nih.gov/12873855
https://pubmed.ncbi.nlm.nih.gov/12873855