Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations von 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

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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

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Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome von VAN REEUWIJK, Jeroen, GREWAL, Prabhjit K, SHAHEED, Mohamed M, ABOMELHA, Abdullah, BRUNNER, Han G, VAN BOKHOVEN, Hans, VOIT, Thomas, SALIH, Mustafa A. M, BELTRAN-VALERO DE BERNABE, Daniel, MCLAUGHLAN, Jenny M, MICHIELSE, Caroline B, HERRMANN, Ralf, HEWITT, Jane E, STEINBRECHER, Alice, SEIDAHMED, Mohamed Z

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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

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C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy von Carmignac, Virginie, Salih, Mustafa A. M., Quijano-Roy, Susana, Marchand, Sylvie, Al Rayess, Molham M., Mukhtar, Maowia M., Urtizberea, Jon A., Labeit, Siegfried, Guicheney, Pascale, Leturcq, France, Gautel, Mathias, Fardeau, Michel, Campbell, Kevin P., Richard, Isabelle, Estournet, Brigitte, Ferreiro, Ana

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Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy von Poduri, Annapurna, Chopra, Sameer S., Neilan, Edward G., Christina Elhosary, P., Kurian, Manju A., Meyer, Esther, Barry, Brenda J., Khwaja, Omar S., Salih, Mustafa A. M., Stödberg, Tommy, Scheffer, Ingrid E., Maher, Eamonn R., Sahin, Mustafa, Wu, Bai-Lin, Berry, Gerard T., Walsh, Christopher A., Picker, Jonathan, Kothare, Sanjeev V.

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Mutation of TDP1 , encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy von Lupski, James R, Takashima, Hiroshi, Boerkoel, Cornelius F, John, Joy, Saifi, Gulam Mustafa, Salih, Mustafa A.M, Armstrong, Dawna, Mao, Yuxin, Quiocho, Florante A, Roa, Benjamin B, Nakagawa, Masanori, Stockton, David W

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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

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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East von Chiara Manzini, M, Gleason, Danielle, Chang, Bernard S, Sean Hill, R, 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

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Prominent corneal nerves: a novel sign of lipoid proteinosis von Al-Faky, Yasser H, Bosley, Thomas M, Al-Turki, Turki, Salih, Mustafa A M, Abu-Amero, Khaled K, Alsuhaibani, Adel H

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Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development von Engle, Elizabeth C, Tischfield, Max A, Bosley, Thomas M, Salih, Mustafa A M, Alorainy, Ibrahim A, Sener, Emin C, Nester, Michael J, Oystreck, Darren T, Chan, Wai-Man, Andrews, Caroline, Erickson, Robert P

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Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis von 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, Doris D. M. Lin, Mustafa A. M. Salih, Kansu, Tülay, al Dhalaan, Hesham, al Zayed, Zayed, 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.

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Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene von Lee, Ming-Jen, Stephenson, Dennis A., Groves, Michael J., Sweeney, Mary G., Davis, Mary B., An, Shu-Fang, Houlden, Henry, Salih, Mustafa A. M., Timmerman, Vincent, de Jonghe, Peter, Auer-Grumbach, Michaela, Di Maria, Emilio, Scaravilli, Francesco, Wood, Nicholas W., Reilly, Mary M.

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Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder von Fernet, Marie, Gribaa, Moez, Salih, Mustafa A.M., Seidahmed, Mohamed Zein, Hall, Janet, Koenig, Michel

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Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? von 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 AM, Inoue, Ken, Armstrong, Dawna L, Champoux, James J, Takashima, Hiroshi, Boerkoel, Cornelius F

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Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report von Mohamed, Sarar, Osman, Abdaldafae, Al Jurayyan, Nasir A, Al Nemri, Abdulrahman, Salih, Mustafa A M

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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

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Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry von Rashed, Mohamed S., Saadallah, Amal A. A., Rahbeeni, Zuhair, Eyaid, Wafaa, Seidahmed, Mohamed Z., Al-Shahwan, Saad, Salih, Mustafa A. M., Osman, Mohammad E., Al-Amoudi, Mohamed, Al-Ahaidib, Lujane, Jacob, Minnie

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Tethered cord syndrome: A study of 35 patients von Khoshhal, Khalid I., Murshid, Waleed R., Elgamal, Essam A., Salih, Mustafa A.M.

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Ophthalmic Features of Joubert Syndrome von Khan, Arif O., MD, Oystreck, Darren T., OC(C), Seidahmed, Mohamed Z., MD, AlDrees, Abdulmajeed, PhD, Elmalik, Salah A., MD, Alorainy, Ibrahim A., MD, Salih, Mustafa A., MD

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