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Brahim Tabarki

As seen in: Archives of Disease in Childhood, The American Journal of Human Genetics, Neurology
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Articles

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking

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By Pilar Chacon-Millan, Antonella Delicato, Arif Mahmood, Alfonsina Tirozzi, Jlenia Monfregola, Karine Duroure, François Kroll, Somaya Salah, Enise Avcı Durmuşalioğlu, Esra Isik, Naif A.M. Almontashiri, Brahim Tabarki, Annalaura Torella, Anais Begemann, Katharina Steindl, Anita Rauch, MJ Hajianpour, Karlla W. Brigatti, Amal Alhashem, Reza Maroofian, Eva Feigerlová, Francois Feillet, Mary-Alice Abbott, Claudia Gonzaga-Jauregui, Marcel Tawk, Marcella Zollino, Vincenzo Nigro, Rossella Venditti, Brunella Franco, Manuela Morleo, Malo Serafini, Océane El-hage, Osama M. Atawneh, Tahir Atik, Moien Kanaan, Grace Rabie, Carmine Spampanato, Domenica Immacolata Battaglia, Markus Zweier, Laetitia Lambert, Alfonso Manuel D’Alessio
| The American Journal of Human Genetics Verified
Keywords JKAMP bi-allelic loss-of-function variants intellectual disability developmental delay zebrafish model endoplasmic reticulum GPR37 Get full text access Log in, subscribe or purchase for full access. References 1. Braakman, I. ∙ Hebert, D.N. Protein folding in the endoplasmic reticulum Cold Spring Harbor Perspect. Biol. 2013; 5, a013201 2. Rapoport, T.A. Protein translocation across the eukaryotic endoplasmic reticulum and bacterial plasma membranes Nature. 2007; 450:663-669 3.
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A Biallelic Variant in FRA10AC1 Is Associated With Neurodevelopmental Disorder and Growth Retardation

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By Amal Alhashem, Brahim Tabarki, Sarar Mohamed, Norah Alsaleh
| Neurology Verified
Case 1 (IV: 1) The proband was the first born of a consanguineous couple and a product of uneventful pregnancy and full-term, spontaneous vaginal delivery (Figure, A). The family history was remarkable for 3 cousins with a similar disease and other 3 cousins with confirmed genetic diagnosis of mucopolysaccharidosis type IVA (Figure, A). She was small for gestational age, with low birth weight of 1.9 kg (z score = −2) and no NICU admission.
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Distinct neuroimaging features of DDHD2 gene-related spastic paraplegia, a mimicker of cerebral palsy

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By Farah Thabet, Kalthoum Tlili-Graiess, Brahim Tabarki
| Archives of Disease in Childhood Verified
Distinct neuroimaging features of DDHD2 gene-related spastic paraplegia, a mimicker of cerebral palsy Farah Thabet1, Kalthoum Tlili-Graiess2, Brahim Tabarki1 1 Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia 2 Department of Radiology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia Correspondence to Professor Brahim Tabarki, Department of Pediatrics, Prince Sultan Military Medical, Riyadh 11159, Saudi Arabia; btabarki{at}hotmail.com Statistics...
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