Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype

por Berghold, Veronika M., Koko, Mahmoud, Berutti, Riccardo, Plecko, Barbara
Publicado 2022

Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data

por Koko, Mahmoud, Abdallah, Mohammed O. E., Amin, Mutaz, Ibrahim, Muntaser
Publicado 2018

Distinct gene-set burden patterns underlie common generalized and focal epilepsies

por Koko, Mahmoud, Krause, Roland, Sander, Thomas, Bobbili, Dheeraj Reddy, Nothnagel, Michael, May, Patrick, Lerche, Holger
Publicado 2021

Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report

por AMIN, MUTAZ, BAKHIT, YOUSUF, KOKO, MAHMOUD, IBRAHIM, MOHAMED OSAMA MIRGAHNI, SALIH, MA, IBRAHIM, MUNTASER, SEIDI, OSHEIK A
Publicado 2019

Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related...

por Kegele, Josua, Krüger, Johanna, Koko, Mahmoud, Lange, Lara, Marco Hernandez, Ana Victoria, Martinez, Francisco, Münchau, Alexander, Lerche, Holger, Lauxmann, Stephan
Publicado 2021

EBV Associated Breast Cancer Whole Methylome Analysis Reveals Viral and Developmental Enriched Pathways

por Abdallah, Mohammad O. E., Algizouli, Ubai K., Suliman, Maram A., Abdulrahman, Rawya A., Koko, Mahmoud, Fessahaye, Ghimja, Shakir, Jamal H., Fahal, Ahmed H., Elhassan, Ahmed M., Ibrahim, Muntaser E., Mohamed, Hiba S.
Publicado 2018

mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data

por Celli, Roberta, Striano, Pasquale, Citraro, Rita, Di Menna, Luisa, Cannella, Milena, Imbriglio, Tiziana, Koko, Mahmoud, Consortium, Euro Epinomics-Cogie, De Sarro, Giovambattista, Monn, James A., Battaglia, Giuseppe, van Luijtelaar, Gilles, Nicoletti, Ferdinando, Russo, Emilio, Leo, Antonio
Publicado 2023

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

por 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
Publicado 2018

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage

por 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
Publicado 2023

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

por 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
Publicado 2018

Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family

por Elsayed, Liena E. O., Mohammed, Inaam N., Hamed, Ahlam A. A., Elseed, Maha A., Salih, Mustafa A. M., Yahia, Ashraf, Abubaker, Rayan, Koko, Mahmoud, Abd Allah, Amal S. I., Elbashir, Mustafa I., Ibrahim, Muntaser E., Brice, Alexis, Ahmed, Ammar E., Stevanin, Giovanni
Publicado 2020

Exome sequencing of a colorectal cancer family reveals shared mutation pattern and predisposition circuitry along tumor pathways

por Suleiman, Suleiman H., Koko, Mahmoud E., Nasir, Wafaa H., Elfateh, Ommnyiah, Elgizouli, Ubai K., Abdallah, Mohammed O. E., Alfarouk, Khalid O., Hussain, Ayman, Faisal, Shima, Ibrahim, Fathelrahamn M. A., Romano, Maurizio, Sultan, Ali, Banks, Lawrence, Newport, Melanie, Baralle, Francesco, Elhassan, Ahmed M., Mohamed, Hiba S., Ibrahim, Muntaser E.
Publicado 2015

KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum

por Park, Joohyun, Koko, Mahmoud, Hedrich, Ulrike B. S., Hermann, Andreas, Cremer, Kirsten, Haberlandt, Edda, Grimmel, Mona, Alhaddad, Bader, Beck‐Woedl, Stefanie, Harrer, Merle, Karall, Daniela, Kingelhoefer, Lisa, Tzschach, Andreas, Matthies, Lars C., Strom, Tim M., Ringelstein, Erich Bernd, Sturm, Marc, Engels, Hartmut, Wolff, Markus, Lerche, Holger, Haack, Tobias B.
Publicado 2019

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

por Krüger, Johanna, Schubert, Julian, Kegele, Josua, Labalme, Audrey, Mao, Miaomiao, Heighway, Jacqueline, Seebohm, Guiscard, Yan, Pu, Koko, Mahmoud, Aslan-Kara, Kezban, Caglayan, Hande, Steinhoff, Bernhard J., Weber, Yvonne G., Keo-Kosal, Pascale, Berkovic, Samuel F., Hildebrand, Michael S., Petrou, Steven, Krause, Roland, May, Patrick, Lesca, Gaetan, Maljevic, Snezana, Lerche, Holger
Publicado 2022

Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan

por Amin, Mutaz, Vignal, Cedric, Hamed, Ahlam A. A., Mohammed, Inaam N., Elseed, Maha A., Abubaker, Rayan, Bakhit, Yousuf, Babai, Arwa, Elbadi, Eman, Eltaraifee, Esraa, Mustafa, Doua, Yahia, Ashraf, Osman, Melka, Koko, Mahmoud, Mustafa, Mohamed, Alsiddig, Mohamed, Haroun, Sahwah, Elshafea, Azza, Drunat, Severine, Elsayed, Liena E. O., Ahmed, Ammar E., Boespflug-Tanguy, Odile, Dorboz, Imen
Publicado 2022

Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

por Lyu, Hang, Boßelmann, Christian M., Johannesen, Katrine M., Koko, Mahmoud, Ortigoza-Escobar, Juan Dario, Aguilera-Albesa, Sergio, Garcia-Navas Núñez, Deyanira, Linnankivi, Tarja, Gaily, Eija, van Ruiten, Henriette J.A., Richardson, Ruth, Betzler, Cornelia, Horvath, Gabriella, Brilstra, Eva, Geerdink, Niels, Orsucci, Daniele, Tessa, Alessandra, Gardella, Elena, Fleszar, Zofia, Schöls, Ludger, Lerche, Holger, Møller, Rikke S., Liu, Yuanyuan
Publicado 2023

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia

por Yahia, Ashraf, Elsayed, Liena E. O., Valter, Remi, Hamed, Ahlam A. A., Mohammed, Inaam N., Elseed, Maha A., Salih, Mustafa A., Esteves, Typhaine, Auger, Nicolas, Abubaker, Rayan, Koko, Mahmoud, Abozar, Fatima, Malik, Hiba, Adil, Rawaa, Emad, Sara, Musallam, Mhammed Alhassan, Idris, Razaz, Eltazi, Isra Z. M., Babai, Arwa, Ahmed, Elhami A. A., Abd Allah, Amal S. I., Mairey, Mathilde, Ahmed, Ahmed K. M. A., Elbashir, Mustafa I., Brice, Alexis, Ibrahim, Muntaser E., Ahmed, Ammar E., Lamari, Foudil, Stevanin, Giovanni
Publicado 2021