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

Volltext

Novel variants causing megalencephalic leukodystrophy in Sudanese families von 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

Volltext

Research: Prevalence of neural tube defects Khartoum, Sudan August 2014-July 2015 von Omer, Ilham M, Abdullah, Osman M, Mohammed, Inaam N, Abbasher, Lina A

Volltext

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia von 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., Mairey, Mathilde, Ahmed, Ahmed K. M. A., Elbashir, Mustafa, Brice, Alexis, Ibrahim, Muntaser E., Ahmed, Ammar E., Lamari, Foudil, Stevanin, Giovanni

Volltext

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

Volltext

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

Volltext

A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease von Elsayed, Liena Elbaghir Omer, Drouet, Valérie, Usenko, Tatiana, Mohammed, Inaam N., Hamed, Ahlam AbdAlrahman Ahmed, Elseed, Maha Abdelmoneim, Salih, Mustafa A.M., Koko, Mahmoud Eltayeb, Mohamed, Ashraf Yahia Osman, Siddig, Rayan Abubaker, Elbashir, Mustafa Idris, Ibrahim, Muntaser Eltayeb, Durr, Alexandra, Stevanin, Giovanni, Lesage, Suzanne, Ahmed, Ammar Eltahir, Brice, Alexis

Volltext

Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy von Koko, Mahmoud, Elseed, Maha A., Mohammed, Inaam N., Hamed, Ahlam A., Abd Allah, Amal S. I., Yahia, Ashraf, Siddig, Rayan A., Altmüller, Janine, Toliat, Mohammad Reza, Elmahdi, Esra O., Amin, Mutaz, Ahmed, Elhami A., Eltazi, Isra Z. M., Elmugadam, Fatima A., Abdelgadir, Wasma A., Eltaraifee, Esraa, Ibrahim, Mohamed O. M., Ali, Nabila M. H., Malik, Hiba M., Babai, Arwa M., Bakhit, Yousuf H., Nürnberg, Peter, Ibrahim, Muntaser E., Salih, Mustafa A., Schubert, Julian, Elsayed, Liena E. O., Lerche, Holger

Volltext

Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing von Yahia, Ashraf, Ayed, Ikhlas Ben, Hamed, Ahlam A., Mohammed, Inaam N., Elseed, Maha A., Bakhiet, Aisha M., Guillot‐Noel, Lena, Abozar, Fatima, Adil, Rawaa, Emad, Sara, Abubaker, Rayan, Musallam, Mhammed Alhassan, Eltazi, Isra Z. M., Omer, Zulfa, Maaroof, Omer M., Soussi, Amal, Bouzid, Amal, Kmiha, Sana, Kamoun, Hassen, Salih, Mustafa A., Ahmed, Ammar E., Elsayed, Liena, Masmoudi, Saber, Stevanin, Giovanni

Volltext

An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families von Koko, Mahmoud, Yahia, Ashraf, Elsayed, Liena E., Hamed, Ahlam A., Mohammed, Inaam N., Elseed, Maha A., Hamad, Muddathir H. A., Babai, Arwa M., Siddig, Rayan A., Abd Allah, Amal S. I., Mohamed, Mayada, EL‐Amin, Melka, Esteves, Typhaine, Altmüller, Janine, Toliat, Mohammad Reza, Thiele, Holger, Nürnberg, Peter, Salih, Mustafa A., Ahmed, Ammar E., Lerche, Holger, Stevanin, Giovanni

Volltext

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

Volltext

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

Volltext

A N ovel N onsense M utation in DNAJC 6 E xpands the P henotype of A utosomal‐ R ecessive J uvenile‐ O nset P arkinson's D isease von Elsayed, Liena Elbaghir Omer, Drouet, Valérie, Usenko, Tatiana, Mohammed, Inaam N., Hamed, Ahlam AbdAlrahman Ahmed, Elseed, Maha Abdelmoneim, Salih, Mustafa A.M., Koko, Mahmoud Eltayeb, Mohamed, Ashraf Yahia Osman, Siddig, Rayan Abubaker, Elbashir, Mustafa Idris, Ibrahim, Muntaser Eltayeb, Durr, Alexandra, Stevanin, Giovanni, Lesage, Suzanne, Ahmed, Ammar Eltahir, Brice, Alexis

Volltext

Clinical profile of pediatric neurological disorders as seen in outpatient clinic in Khartoum, Sudan von Mohammed, Inaam N., Elseed, Maha A., Hamed, Ahlam A.

Volltext

Epidemiology of epilepsy among school children in Khartoum State-2014 von Hamed, Ahlam A., Elseed, Maha A., Mohammed, Inaam N.

Volltext

Paediatric neurology service in Sudan: Current situation and future challenges von Elseed, Maha A., Mohammed, Inaam N., Hamed, Ahlam A.

Volltext

Traditional and spiritual medicine among Sudanese children with epilepsy von Mohammed, Inaam N, Babikir, Haydar E

Volltext

The quality of life among Sudanese children with epilepsy and their care givers von Abbas, Zahia, Elseed, Maha A, Mohammed, Inaam N

Volltext

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

Volltext

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

Volltext