Acute phase reactants in Sudanese children with severe protein-energy malnutrition*

Por Suliman, Omer S. M., Salih, Mustafa A. M., Karrar, Zein A., Mohammed, Abdelrahim O., Helsing, Chrestover
Publicado no Sudan J Paediatr (2011)

Infection and immunoglobulin levels in Sudanese children with severe protein-energy malnutrition*

Por Suliman, Omer S. M., Salih, Mustafa A. M., Karrar, Zein A., Mohammed, Abdelrahim O., Helsing, Chrestover
Publicado no Sudan J Paediatr (2011)

Risk factors for neural tube defects in Riyadh City, Saudi Arabia: Case-control study

Por Salih, Mustafa A M, Murshid, Waleed R, Mohamed, Ashry Gad, Ignacio, Lena C, de Jesus, Julie E, Baabbad, Rubana, El Bushra, Hassan M
Publicado no Sudan J Paediatr (2014)

Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

Por Hirano, Ryuki, Interthal, Heidrun, Huang, Cheng, Nakamura, Tomonori, Deguchi, Kimiko, Choi, Kunho, Bhattacharjee, Meenakshi B, Arimura, Kimiyoshi, Umehara, Fujio, Izumo, Shuji, Northrop, Jennifer L, Salih, Mustafa A M, Inoue, Ken, Armstrong, Dawna L, Champoux, James J, Takashima, Hiroshi, Boerkoel, Cornelius F
Publicado em 2007

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 no BMC Med Genet (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 no Front Neurol (2020)

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome

Por van Reeuwijk, Jeroen, Grewal, Prabhjit K., Salih, Mustafa A. M., Beltrán-Valero de Bernabé, Daniel, McLaughlan, Jenny M., Michielse, Caroline B., Herrmann, Ralf, Hewitt, Jane E., Steinbrecher, Alice, Seidahmed, Mohamed Z., Shaheed, Mohamed M., Abomelha, Abdullah, Brunner, Han G., van Bokhoven, Hans, Voit, Thomas
Publicado em 2007

Ethnically Diverse Causes of Walker-Warburg Syndrome (WWS): FCMD Mutations Are a More Common Cause of WWS Outside of the Middle East

Por Manzini, M. Chiara, Gleason, Danielle, Chang, Bernard S., Hill, R. Sean, Barry, Brenda J., Partlow, Jennifer N., Poduri, Annapurna, Currier, Sophie, Galvin-Parton, Patricia, Shapiro, Lawrence R., Schmidt, Karen, Davis, Jessica G., Basel-Vanagaite, Lina, Seidahmed, Mohamed Z., Salih, Mustafa A. M., Dobyns, William B., Walsh, Christopher A.
Publicado em 2008

Homozygous PLCB1 Deletion Associated with Malignant Migrating Partial Seizures in Infancy

Por Poduri, Annapurna, Chopra, Sameer S., Neilan, Edward G., Elhosary, P. Christina, Kurian, Manju A., Meyer, Esther, Barry, Brenda J., Khwaja, Omar S., Salih, Mustafa A. M., Sci, Dr Med, Stödberg, Tommy, Scheffer, Ingrid E., Maher, Eamonn R., Sahin, Mustafa, Wu, Bai-Lin, Med, M, Berry, Gerard T., Walsh, Christopher A., Picker, Jonathan, Kothare, Sanjeev V.
Publicado em 2012

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

Por Perrault, Isabelle, Saunier, Sophie, Hanein, Sylvain, Filhol, Emilie, Bizet, Albane A., Collins, Felicity, Salih, Mustafa A.M., Gerber, Sylvie, Delphin, Nathalie, Bigot, Karine, Orssaud, Christophe, Silva, Eduardo, Baudouin, Véronique, Oud, Machteld M., Shannon, Nora, Le Merrer, Martine, Roche, Olivier, Pietrement, Christine, Goumid, Jamal, Baumann, Clarisse, Bole-Feysot, Christine, Nitschke, Patrick, Zahrate, Mohammed, Beales, Philip, Arts, Heleen H., Munnich, Arnold, Kaplan, Josseline, Antignac, Corinne, Cormier-Daire, Valérie, Rozet, Jean-Michel
Publicado em 2012

Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

Por Jen, Joanna C., Chan, Wai-Man, Bosley, Thomas M., Wan, Jijun, Carr, Janai R., Rüb, Udo, Shattuck, David, Salamon, Georges, Kudo, Lili C., Ou, Jing, Lin, Doris D. M., Salih, Mustafa A. M., Kansu, Tülay, Dhalaan, Hesham al, Zayed, Zayed al, MacDonald, David B., Stigsby, Bent, Plaitakis, Andreas, Dretakis, Emmanuel K., Gottlob, Irene, Pieh, Christina, Traboulsi, Elias I., Wang, Qing, Wang, Lejin, Andrews, Caroline, Yamada, Koki, Demer, Joseph L., Karim, Shaheen, Alger, Jeffry R., Geschwind, Daniel H., Deller, Thomas, Sicotte, Nancy L., Nelson, Stanley F., Baloh, Robert W., Engle, Elizabeth C.
Publicado em 2004

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

Por Tesson, Christelle, Nawara, Magdalena, Salih, Mustafa A.M., Rossignol, Rodrigue, Zaki, Maha S., Al Balwi, Mohammed, Schule, Rebecca, Mignot, Cyril, Obre, Emilie, Bouhouche, Ahmed, Santorelli, Filippo M., Durand, Christelle M., Oteyza, Andrés Caballero, El-Hachimi, Khalid H., Al Drees, Abdulmajeed, Bouslam, Naima, Lamari, Foudil, Elmalik, Salah A., Kabiraj, Mohammad M., Seidahmed, Mohammed Z., Esteves, Typhaine, Gaussen, Marion, Monin, Marie-Lorraine, Gyapay, Gabor, Lechner, Doris, Gonzalez, Michael, Depienne, Christel, Mochel, Fanny, Lavie, Julie, Schols, Ludger, Lacombe, Didier, Yahyaoui, Mohamed, Al Abdulkareem, Ibrahim, Zuchner, Stephan, Yamashita, Atsushi, Benomar, Ali, Goizet, Cyril, Durr, Alexandra, Gleeson, Joseph G., Darios, Frederic, Brice, Alexis, Stevanin, Giovanni
Publicado em 2012

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

Por 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
Publicado no Eur J Hum Genet (2017)