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Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
Published in:
Epilepsia (Series 4), 2012, v. 53, n. 8, p. e146, doi. 10.1111/j.1528-1167.2012.03538.x
By:
- 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.
Publication type:
Article
Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.
Published in:
Nature Genetics, 2005, v. 37, n. 10, p. 1035, doi. 10.1038/ng1636
By:
- Tischfield, Max A.;
- Bosley, Thomas M.;
- Salih, Mustafa A. M.;
- Alorainy, Ibrahim A.;
- Sener, Emin C.;
- Nester, Michael J.;
- Oystreck, Darren T.;
- Wai-Man Chan;
- Andrews, Caroline;
- Erickson, Robert P.;
- Engle, Elizabeth C.
Publication type:
Article
Case report of a novel homozygous splice site mutation in <italic>PLA2G6</italic> gene causing infantile neuroaxonal dystrophy in a Sudanese family.
Published in:
2018
By:
- 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
Publication type:
Case Study
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
Published in:
Human Genetics, 2007, v. 121, n. 6, p. 685, doi. 10.1007/s00439-007-0362-y
By:
- van Reeuwijk, Jeroen;
- Grewal, Prabhjit K.;
- Salih, Mustafa A. M.;
- de Bernabé, Daniel Beltrán-Valero;
- McLaughlan, Jenny M.;
- Michielse, Caroline B.;
- Herrmann, Ralf;
- Ewitt, Jane E.;
- Steinbrecher, Alice;
- Seidahmed, Mohamed Z.;
- Shaheed, Mohamed M.;
- Abomelha, Abdullah;
- Brunner, Han G.;
- van Bokhoven, Hans;
- Voit, Thomas
Publication type:
Article
Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?
Published in:
EMBO Journal, 2007, v. 26, n. 22, p. 4732, doi. 10.1038/sj.emboj.7601885
By:
- Hirano, Ryuki;
- Interthal, Heidrun;
- Cheng Huang;
- 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.
Publication type:
Article
Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry.
Published in:
Biomedical Chromatography, 2005, v. 19, n. 3, p. 223, doi. 10.1002/bmc.439
By:
- 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
Publication type:
Article
Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report.
Published in:
BMC Research Notes, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1756-0500-7-184
By:
- Mohamed, Sarar;
- Osman, Abdaldafae;
- Al Jurayyan, Nasir A.;
- Al Nemri, Abdulrahman;
- Salih, Mustafa A. M.
Publication type:
Article
Severe autosomal recessive muscular dystrophy in an extended Sudanese kindred.
Published in:
1983
By:
- Salih, Mustafa A. M.;
- Omer, Mohamed Ibrahim A.;
- Bayoumi, Riad A.;
- Karrar, Omer;
- Johnson, M.;
- Salih, M A;
- Omer, M I;
- Bayoumi, R A;
- Karrar, O
Publication type:
journal article
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
Published in:
2007
By:
- Carmignac V;
- Salih MA;
- Quijano-Roy S;
- Marchand S;
- Al Rayess MM;
- Mukhtar MM;
- Urtizberea JA;
- Labeit S;
- Guicheney P;
- Leturcq F;
- Gautel M;
- Fardeau M;
- Campbell KP;
- Richard I;
- Estournet B;
- Ferreiro A;
- Carmignac, Virginie;
- Salih, Mustafa A M;
- Quijano-Roy, Susana;
- Marchand, Sylvie
Publication type:
journal article
C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy.
Published in:
Annals of Neurology, 2007, v. 61, n. 4, p. 340, doi. 10.1002/ana.21089
By:
- Virginie Carmignac;
- Mustafa A. M. Salih;
- Susana Quijano‐Roy;
- Sylvie Marchand;
- Molham M. Al Rayess;
- Maowia M. Mukhtar;
- Jon A. Urtizberea;
- Siegfried Labeit;
- Pascale Guicheney;
- France Leturcq;
- Mathias Gautel;
- Michel Fardeau;
- Kevin P. Campbell;
- Isabelle Richard;
- Brigitte Estournet;
- Ana Ferreiro
Publication type:
Article
Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family.
Published in:
Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.569996
By:
- 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
Publication type:
Article
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Published in:
Human Mutation, 2008, v. 29, n. 11, p. E231, doi. 10.1002/humu.20844
By:
- 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.
Publication type:
Article
Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene.
Published in:
Human Molecular Genetics, 2003, v. 12, n. 15, p. 1917, doi. 10.1093/hmg/ddg198
By:
- 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.
Publication type:
Article
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
Published in:
Human Molecular Genetics, 2003, v. 12, n. 14, p. 1713, doi. 10.1093/hmg/ddg179
By:
- Previtali, Stefano C.;
- Zerega, Barbara;
- Sherman, Diane L.;
- Brophy, Peter J.;
- Dina, Giorgia;
- King, Rosalind H.M.;
- Salih, Mustafa M.;
- Feltri, Laura;
- Quattrini, Angelo;
- Ravazzolo, Roberto;
- Wrabetz, Lawrence;
- Monaco, Anthony P.;
- Bolino, Alessandra
Publication type:
Article
Muscular dystrophy associated with β-dystroglycan deficiency.
Published in:
Annals of Neurology, 1996, v. 40, n. 6, p. 925, doi. 10.1002/ana.410400617
By:
- Salih, Mustafa A. M.;
- Sunada, Yoshihide;
- Al-Nasser, M.;
- Ozo, C. O.;
- Al-Turaiki, M. H. S.;
- Akbar, Maksood;
- Campbell, Kevin P.
Publication type:
Article
Mild Congenital Muscular Dystrophy in Two Patients with an Internally Deleted Laminin α2-Chain.
Published in:
Human Molecular Genetics, 1997, v. 6, n. 5, p. 747, doi. 10.1093/hmg/6.5.747
By:
- Allamand, Valérie;
- Sunada, Yoshihide;
- Salih, Mustafa A. M.;
- Straub, Volker;
- Ozo, O.;
- Al-Turaiki, M. H. S.;
- Akbar, Maksood;
- Kolo, Timo;
- Colognato, Holly;
- Zhang, Xu;
- Sorokin, Lydia M.;
- Yurchenco, Peter D.;
- Tryggvason, Karl;
- Campbell, Kevin P.
Publication type:
Article

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