Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Rahma Felhi"'
Autor:
Mouna Tabebi, Wajdi Safi, Rahma Felhi, Olfa Alila Fersi, Leila Keskes, Mohamed Abid, Mouna Mnif, Faiza Fakhfakh
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract Background Mitochondrial diabetes (MD) is a rare monogenic form of diabetes and divided into type l and type 2. It is characterized by a strong familial clustering of diabetes with the presence of maternal transmission in conjunction with bi
Externí odkaz:
https://doaj.org/article/8c8a1057c14b4cd1bd474c4e605bf461
Autor:
Marwa Ammar, Wajdi Safi, Abdelaziz Tlili, Olfa Alila‐Fersi, Fakher Frikha, Jihen Chouchen, Fatma Mnif, Marwa Kharrat, Marwa Maalej, Rahma Felhi, Mohamed Abid, Mouna Mnif‐Feki, Faten Hadj Kacem, Faiza Fakhfakh, Emna Mkaouar‐Rebai
Publikováno v:
International Journal of Developmental Neuroscience. 82:626-638
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE; OMIM 603041) is a rare inherited metabolic disorder mostly caused by mutations in TYMP gene encoding thymidine phosphorylase (TP) protein that affects the mitochondrial nucleotide metaboli
Autor:
Rahma Felhi, Kamel Monastiri, Hayet Ben Hamida, Marwa Ammar, Fatma Zohra Chioukh, Brahim Tabarki, Jihene Chouchen, Faiza Fakhfakh, Abdelaziz Tlili, Emna Mkaouar‐Rebai
Publikováno v:
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceREFERENCES. 82(8)
MEGDEL syndrome is a rare recessive disorder, with about 100 cases reported worldwide, which is defined by 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E) and Leigh-like syndrome (L). When these manifestations were added to hepato
Autor:
Baha Zantour, Mouna Tabebi, Mohammed Abid, Faiza Fakhfakh, Wajdi Safi, Rahma Felhi, Mouna Mnif Feki, Mohamed Habib Sfar, Houcem Mrabet
Publikováno v:
Open Journal of Genetics. 11:77-92
Mutations in the WFS1 gene have been reported in Wolfram syndrome (WFS), a rare and autosomal recessive disorder defined by early onset of diabetes mellitus and progressive optic and hearing impairment. Only few data are available concerning the asso
Autor:
Olfa Alila-Fersi, Lamia Sfaihi, Mongia Hachicha, Faiza Fakhfakh, Marwa Ammar, Rahma Felhi, Marwa Maalej, Emna Mkaouar-Rebai
Publikováno v:
Molecular Biology Reports.
Mitochondrial diseases include a wide group of clinically heterogeneous disorders caused by a dysfunction of the mitochondrial respiratory chain and can be related to mutations in nuclear or mitochondrial DNA genes. In the present report, we performe
Autor:
David Goudenège, Pascal Reynier, Majida Charif, Rahma Felhi, Dominique Bonneau, Mongia Hachicha, Lamia Sfaihi, Céline Bris, Leila Ammar-Keskes, Guy Lenaers, Patrizia Amati-Bonneau, Valérie Desquiret-Dumas, Vincent Procaccio, Faiza Fakhfakh
Publikováno v:
Clinica Chimica Acta
Clinica Chimica Acta, Elsevier, 2019, 488, pp.104-110. ⟨10.1016/j.cca.2018.11.003⟩
Clinica Chimica Acta, Elsevier, 2019, 488, pp.104-110. ⟨10.1016/j.cca.2018.11.003⟩
Introduction Mitochondrial diseases are a group of disorders caused mainly by the impairment of the mitochondrial oxidative phosphorylation process, due to mutations either in the mitochondrial or nuclear genome. Among them, the mitochondrial neuro-g
Autor:
Emna, Mkaouar-Rebai, Marwa, Ammar, Lamia, Sfaihi, Olfa, Alila-Fersi, Marwa, Maalej, Rahma, Felhi, Mongia, Hachicha, Faiza, Fakhfakh
Publikováno v:
Molecular biology reports. 48(5)
Mitochondrial diseases include a wide group of clinically heterogeneous disorders caused by a dysfunction of the mitochondrial respiratory chain and can be related to mutations in nuclear or mitochondrial DNA genes. In the present report, we performe
Autor:
Olfa Alila Fersi, Rahma Felhi, Leila Keskes, Wajdi Safi, Mohamed Abid, Mouna Tabebi, Mouna Mnif, Faiza Fakhfakh
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Mitochondrial diabetes (MD) is a rare monogenic form of diabetes and divided into type l and type 2. It is characterized by a strong familial clustering of diabetes with the presence of maternal transmission in conjunction with bilateral h
Autor:
Rim Kallel, Vincent Procaccio, Patrizia Amati-Bonneau, Faiza Fakhfakh, Majida Charif, Rahma Felhi, Agnès Guichet, Valérie Desquiret-Dumas, Dominique Bonneau, Emna Mkaouar-Rebai, Mongia Hachicha, Pascal Reynier, Guy Lenaers, David Goudenège, Céline Bris, Lamia Sfaihi
Publikováno v:
Molecular Biology Reports
Molecular Biology Reports, Springer Verlag, 2020, 47 (5), pp.3779-3787. ⟨10.1007/s11033-020-05425-3⟩
Molecular Biology Reports, Springer Verlag, 2020, 47 (5), pp.3779-3787. ⟨10.1007/s11033-020-05425-3⟩
Mitochondrial diseases are a clinically heterogeneous group of multisystemic disorders that arise as a result of various mitochondrial dysfunctions. Autosomal recessive aARS deficiencies represent a rapidly growing group of severe rare inherited mito
Autor:
Mongia Hachicha, Marwa Maalej, Olfa Alila-Fersi, Faiza Fakhfakh, Marwa Ammar, Emna Mkaouar-Rebai, Rahma Felhi, Thouraya Kammoun, Marwa Kharrat, Leila Keskes
Publikováno v:
Biochemical and Biophysical Research Communications. 497:1043-1048
Leigh syndrome (LS) is a rare progressive neurodegenerative disorder occurring in infancy. The most common clinical signs reported in LS are growth retardation, optic atrophy, ataxia, psychomotor retardation, dystonia, hypotonia, seizures and respira