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

ανά Suliman, Omer S. M., Salih, Mustafa A. M., Karrar, Zein A., Mohammed, Abdelrahim O., Helsing, Chrestover
Τόπος έκδοσης Sudan J Paediatr (2011)

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

ανά Suliman, Omer S. M., Salih, Mustafa A. M., Karrar, Zein A., Mohammed, Abdelrahim O., Helsing, Chrestover
Τόπος έκδοσης Sudan J Paediatr (2011)

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

ανά Salih, Mustafa A M, Murshid, Waleed R, Mohamed, Ashry Gad, Ignacio, Lena C, de Jesus, Julie E, Baabbad, Rubana, El Bushra, Hassan M
Τόπος έκδοσης Sudan J Paediatr (2014)

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

ανά 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
Έκδοση 2007

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

ανά 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
Τόπος έκδοσης BMC Med Genet (2018)

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

ανά 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
Τόπος έκδοσης Front Neurol (2020)

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome

ανά 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
Έκδοση 2007

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

ανά 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.
Έκδοση 2008

Homozygous PLCB1 Deletion Associated with Malignant Migrating Partial Seizures in Infancy

ανά 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.
Έκδοση 2012

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

ανά 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
Έκδοση 2012

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

ανά 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.
Έκδοση 2004

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

ανά 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
Έκδοση 2012

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

ανά 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
Τόπος έκδοσης Eur J Hum Genet (2017)