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16 results for Elsayed,+Liena

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Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
Author / Creator:Martins, Sandra ; Yahia, Ashraf ; Costa, Inês P. D. ; Siddig, Hassab E. ; Abubaker, Rayan ; Koko, Mahmoud ; Corral-Juan, Marc ; Matilla-Dueñas, Antoni ; Brice, Alexis ; Durr, Alexandra ; Leguern, Eric ; Ranum, Laura P. W. ; Amorim, António ; Elsayed, Liena E. O. ; Stevanin, Giovanni ; Sequeiros, Jorge
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2023-12, Vol.142 (12), p.1747-1754
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Novel variants causing megalencephalic leukodystrophy in Sudanese families
Author / Creator:Amin, Mutaz ; Vignal, Cedric ; Hamed, Ahlam A. A. ; Mohammed, Inaam N. ; Elseed, Maha A. ; Drunat, Severine ; Babai, Arwa ; Eltaraifee, Esraa ; Elbadi, Iman ; Abubaker, Rayan ; Mustafa, Doaa ; Yahia, Ashraf ; Koko, Mahmoud ; Osman, Melka ; Bakhit, Yousuf ; Elshafea, Azza ; Alsiddig, Mohamed ; Haroun, Sahwah ; Lelay, Gurvan ; Elsayed, Liena E. O. ; Ahmed, Ammar E. ; Boespflug-Tanguy, Odile ; Dorboz, Imen
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2022-03, Vol.67 (3), p.127-132
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PLA2G6‐associated late‐onset parkinsonism in a Sudanese family
Author / Creator:Bakhit, Yousuf ; Tesson, Christelle ; Ibrahim, Mohamed O. ; Eltom, Khalid ; Eltazi, Isra ; Elsayed, Liena E.O. ; Lesage, Suzanne ; Seidi, Osheik ; Corvol, Jean‐Christophe ; Wüllner, Ullrich
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2023-06, Vol.10 (6), p.983-989
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A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability
Author / Creator:Amin, Mutaz ; Vignal, Cedric ; Eltaraifee, Esraa ; Mohammed, Inaam N. ; Hamed, Ahlam A. A. ; Elseed, Maha A. ; Babai, Arwa ; Elbadi, Iman ; Mustafa, Doua ; Abubaker, Rayan ; Mustafa, Mohamed ; Drunat, Severine ; Elsayed, Liena E. O. ; Ahmed, Ammar E. ; Boespflug-Tanguy, Odile ; Dorboz, Imen
Publisher:London: BioMed Central Ltd
Journal title:BMC medical genomics, 2022-11, Vol.15 (1), p.1-236, Article 236
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Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report
Author / Creator:Yahia, Ashraf ; Elsayed, Liena ; Babai, Arwa ; Salih, Mustafa A. ; El-Sadig, Sarah Misbah ; Amin, Mutaz ; Koko, Mahmoud ; Abubakr, Rayan ; Idris, Razaz ; Taha, Shaimaa Omer M.A. ; Elmalik, Salah A. ; Brice, Alexis ; Ahmed, Ammar Eltahir ; Stevanin, Giovanni
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2018-10, Vol.18 (1), p.175-175, Article 175
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Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family
Author / Creator:Elsayed, Liena E. O. ; Mohammed, Inaam N. ; Hamed, Ahlam A. A. ; Elseed, Maha A. ; Salih, Mustafa A. M. ; Yahia, Ashraf ; Siddig, Rayan A. ; Amin, Mutaz ; Koko, Mahmoud ; Elbashir, Mustafa I. ; Ibrahim, Muntaser E. ; Brice, Alexis ; Ahmed, Ammar E. ; Stevanin, Giovanni
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2018-05, Vol.19 (1), p.72-72, Article 72
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A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report
Author / Creator:Yahia, Ashraf ; Chen, Zhefan Stephen ; Ahmed, Ammar E. ; Emad, Sara ; Adil, Rawaa ; Abubaker, Rayan ; Taha, Shaimaa Omer M. A. ; Salih, Mustafa A. ; Elsayed, Liena ; Chan, Ho Yin Edwin ; Stevanin, Giovanni
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2021-02, Vol.21 (1), p.78-78, Article 78
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Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism
Author / Creator:Dahawi, Maha ; de Sainte Agathe, Jean-Madeleine ; Elmagzoub, Mohamed S. ; Ahmed, Elhami A. ; Buratti, Julien ; Courtin, Thomas ; Noé, Eric ; Bogoin, Julie ; Copin, Bruno ; Elmugadam, Fatima A. ; Abdelgadir, Wasma A. ; Ahmed, Ahmed K. M. A. ; Daldoum, Mohamed A. ; Altayeb, Rayan Mamoon Ibrahim ; Bashir, Mohamed ; Khalid, Leena Mohamed ; Gamil, Sahar ; Baldassari, Sara ; Elsayed, Liena ; Keren, Boris ; Nuel, Gregory ; Ahmed, Ammar E. ; Leguern, Eric
Publisher:England: BMC
Journal title:Human genomics, 2024-11, Vol.18 (1), p.130-18, Article 130
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Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
Author / Creator:Elsayed, Liena Elbaghir Omer ; AlHarbi, Norah Ayed ; Alqarni, Ashwaq Mohammed ; Eltayeb, Huda Hussein Elwasila ; Mostafa, Noura Mostafa Mohamed ; Abdulrahim, Maha Mohammed ; Zaid, Hadeel Ibrahim Bin ; Alanzi, Latifah Mansour ; Ababtain, Sarah Abdullah ; Aldulaijan, Khawlah ; Aloyouni, Sheka Yagub ; Othman, Moneeb Abdullah Kassem ; Alkheilewi, Mohammad Abdullah ; Binduraihem, Adel Mohammed ; Alrukban, Hadeel Abdollah ; Ahmed, Hiba Yousif ; AlRadini, Faten Abdullah ; Alahdal, Hadil Mohammad ; Mushiba, Aziza Mufareh ; Alzaher, Omaima Abdulazeem
Publisher:England: BioMed Central
Journal title:Human genomics, 2024-09, Vol.18 (1), p.95-10, Article 95
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Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
Author / Creator:Elsayed, Liena Elbaghir Omer ; AlHarbi, Norah Ayed ; Alqarni, Ashwaq Mohammed ; Eltayeb, Huda Hussein Elwasila ; Mostafa, Noura Mostafa Mohamed ; Abdulrahim, Maha Mohammed ; Zaid, Hadeel Ibrahim Bin ; Alanzi, Latifah Mansour ; Ababtain, Sarah Abdullah ; Aldulaijan, Khawlah ; Aloyouni, Sheka Yagub ; Othman, Moneeb Abdullah Kassem ; Alkheilewi, Mohammad Abdullah ; Binduraihem, Adel Mohammed ; Alrukban, Hadeel Abdollah ; Ahmed, Hiba Yousif ; AlRadini, Faten Abdullah ; Alahdal, Hadil Mohammad ; Mushiba, Aziza Mufareh ; Alzaher, Omaima Abdulazeem
Publisher:England: BioMed Central
Journal title:Human genomics, 2024-10, Vol.18 (1), p.115-2, Article 115
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Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan
Author / Creator:Elsayed, Liena E O ; Mohammed, Inaam N ; Hamed, Ahlam A A ; Elseed, Maha A ; Johnson, Adam ; Mairey, Mathilde ; Mohamed, Hassab Elrasoul S A ; Idris, Mohamed N ; Salih, Mustafa A M ; El-sadig, Sarah M ; Koko, Mahmoud E ; Mohamed, Ashraf Y O ; Raymond, Laure ; Coutelier, Marie ; Darios, Frédéric ; Siddig, Rayan A ; Ahmed, Ahmed K M A ; Babai, Arwa M A ; Malik, Hiba M O ; Omer, Zulfa M B M ; Mohamed, Eman O E ; Eltahir, Hanan B ; Magboul, Nasr Aldin A ; Bushara, Elfatih E ; Elnour, Abdelrahman ; Rahim, Salah M Abdel ; Alattaya, Abdelmoneim ; Elbashir, Mustafa I ; Ibrahim, Muntaser E ; Durr, Alexandra ; Audhya, Anjon ; Brice, Alexis ; Ahmed, Ammar E ; Stevanin, Giovanni
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-09, Vol.25 (1), p.100-110
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Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative
Author / Creator:Beijer, Danique ; Fogel, Brent L. ; Beltran, Sergi ; Danzi, Matt C. ; Németh, Andrea H. ; Züchner, Stephan ; Synofzik, Matthis
Publisher:New York: Springer US
Journal title:Cerebellum (London, England), 2024-04, Vol.23 (2), p.391-400
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Clinical and Genetic Characteristics of Leukodystrophies in Africa
Author / Creator:Amin, Mutaz ; Elsayed, Liena ; Ahmed, Ammar Eltahir
Publisher:United States: Thieme Medical Publishers Inc
Journal title:Journal of neurosciences in rural practice, 2017-08, Vol.8 (S 01), p.S089-S093
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Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556
Author / Creator:Cauley, Edmund S. ; Hamed, Ahlam ; Mohamed, Inaam N. ; Elseed, Maha ; Martinez, Samantha ; Yahia, Ashraf ; Abozar, Fatima ; Abubakr, Rayan ; Koko, Mahmoud ; Elsayed, Liena ; Piao, Xianhua ; Salih, Mustafa A. ; Manzini, M. Chiara
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2019-05, Vol.20 (2), p.91-98
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Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
Author / Creator:Roux, Thomas ; Barbier, Mathieu ; Papin, Mélanie ; Davoine, Claire-Sophie ; Sayah, Sabrina ; Coarelli, Giulia ; Charles, Perrine ; Marelli, Cecilia ; Parodi, Livia ; Tranchant, Christine ; Goizet, Cyril ; Klebe, Stephan ; Lohmann, Ebba ; Van Maldergem, Lionel ; van Broeckhoven, Christine ; Coutelier, Marie ; Tesson, Christelle ; Stevanin, Giovanni ; Duyckaerts, Charles ; Brice, Alexis ; Durr, Alexandra
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-11, Vol.22 (11), p.1851-1862
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Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
Author / Creator:Roux, Thomas ; Barbier, Mathieu ; Papin, Mélanie ; Davoine, Claire-Sophie ; Sayah, Sabrina ; Coarelli, Giulia ; Charles, Perrine ; Marelli, Cecilia ; Parodi, Livia ; Tranchant, Christine ; Goizet, Cyril ; Klebe, Stephan ; Lohmann, Ebba ; Van Maldergem, Lionel ; van Broeckhoven, Christine ; Coutelier, Marie ; Tesson, Christelle ; Stevanin, Giovanni ; Duyckaerts, Charles ; Brice, Alexis ; Durr, Alexandra ; Durr, Alexandra ; Stevanin, Giovanni ; Brice, Alexis ; Darios, Frédéric ; Forlani, Sylvie ; Site, Pitié-Salpêtrière ; Banneau, Guillaume ; Cazeneuve, Cécile ; Charles, Perrine ; Duyckaerts, Charles ; Fontaine, Bertrand ; Azulay, Jean-Philippe ; Boesfplug-Tanguy, Odile ; Goizet, Cyril ; Hannequin, Didier ; Hazan, Jamilé ; Burgo, Andrea ; Verny, Christophe ; Koenig, Michel ; Labauge, Pierre ; Marelli, Cecilia ; N’guyen, Karine ; Rodriguez, Diana ; Belarbi, Soraya ; Hamri, Abdelmadjid ; Tazir, Meriem ; Boesch, Sylvia ; Pandolfo, Massimo ; Laura, Jardim ; Guergueltcheva, Velina ; Tournev, Ivalo ; Pedraza Linarès, Olga Lucia ; Nielsen, Jørgen E. ; Svenstrup, Kirsten ; Zaki, Maha ; Bauer, Peter ; Schöls, Lüdger ; Schüle, Rebecca ; Lossos, Alexander ; Bassi, Maria-Teresa ; Basso, Manuela ; Bertini, Enrico ; Brusco, Alfredo ; Casali, Carlo ; Casari, Giorgio ; Criscuolo, Chiara ; Filla, Alessandro ; Orsi, Laura ; Santorelli, Filippo M. ; Valente, Enza Maria ; Vavla, Marinela ; Vazza, Giovanni ; Megarbane, André ; Benomar, Ali ; Kremer, Berry ; Van Roon-Mom, Willeke ; Roxburgh, Richard ; Erichsen, Anne Kjersti ; Tallaksen, Chantal ; Alonso, Isabel ; Coutinho, Paula ; Loureiro, José Léal ; Sequeiros, Jorge ; Salih, Mustapha ; Kostic, Vladimir S ; Rouco Axpe, Idoia ; Elsayed, Liena ; Paucar, Martin Arce ; Roumani, Samir ; Bing-Wen, Soong ; Reid, Evan ; Suran, Nethisinghe ; Warner, Thomas ; Wood, Nicholas
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-10, Vol.23 (10), p.2021-2021
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Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage

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Novel variants causing megalencephalic leukodystrophy in Sudanese families

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PLA2G6‐associated late‐onset parkinsonism in a Sudanese family

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A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

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Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report

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Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

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A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report

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Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism

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Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype

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Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype

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Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

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Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative

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Clinical and Genetic Characteristics of Leukodystrophies in Africa

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Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556

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Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

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Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

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