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Year Number of Results
2009 2
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Page 1
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
A transposase-derived gene required for human brain development.
Zapater LJ, Lewis SA, Gutierrez RL, Yamada M, Rodriguez-Fos E, Planas-Felix M, Cameron D, Demarest P, Nabila A, Mueller H, Zhao J, Bergin P, Reed C, Chwat-Edelstein T, Pagnozzi A, Nava C, Bourel-Ponchel E, Cornejo P, Dursun A, Özgül RK, Akar HT, Maroofian R, Houlden H, Cheema HA, Anjum MN, Zifarelli G, Essid M, Ben Hafsa M, Benrhouma H, Montoya CIG, Proekt A, Zhao X, Socci ND, Hayes M, Bigot Y, Rabadan R, Torrents D, Kleinmann CL, Kruer MC, Toth M, Kentsis A. Zapater LJ, et al. Among authors: benrhouma h. bioRxiv [Preprint]. 2024 Aug 13:2023.04.28.538770. doi: 10.1101/2023.04.28.538770. bioRxiv. 2024. PMID: 37163102 Free PMC article. Preprint.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, Houlden H. Maroofian R, et al. Among authors: benrhouma h. Brain. 2024 Jul 5;147(7):2334-2343. doi: 10.1093/brain/awae091. Brain. 2024. PMID: 38527963 Free PMC article.
Movement disorders in neuro-metabolic diseases.
Gouider-Khouja N, Kraoua I, Benrhouma H, Fraj N, Rouissi A. Gouider-Khouja N, et al. Among authors: benrhouma h. Eur J Paediatr Neurol. 2010 Jul;14(4):304-7. doi: 10.1016/j.ejpn.2009.11.005. Epub 2009 Dec 16. Eur J Paediatr Neurol. 2010. PMID: 20015670 Review.
Pediatric Neurotuberculosis: A cases series and review of the literature.
Jamoussi M, Benrhouma H, Miladi Z, Ben Younes T, Klaa H, Rouissi A, Kraoua I, Ben Youssef I. Jamoussi M, et al. Among authors: benrhouma h. Eur J Paediatr Neurol. 2023 Mar;43:6-11. doi: 10.1016/j.ejpn.2023.01.012. Epub 2023 Feb 1. Eur J Paediatr Neurol. 2023. PMID: 36739787 Review.
Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review.
Kraoua I, Bouyacoub Y, Drissi C, Chargui M, Rebai I, Chebil A, Klaa H, Benrhouma H, Hassen A, Gouider-Khouja N, Abdelhak S, Boespflug-Tanguy O, Youssef-Turki IB, Dorboz I. Kraoua I, et al. Among authors: benrhouma h. Neuropediatrics. 2021 Aug;52(4):302-309. doi: 10.1055/s-0041-1728654. Epub 2021 Jun 30. Neuropediatrics. 2021. PMID: 34192786 Review.
SQSTM1 mutation: Description of the first Tunisian case and literature review.
Akkari M, Kraoua I, Klaa H, Benrhouma H, Ben Younes T, Rouissi A, Chaabouni M, Ben Youssef-Turki I. Akkari M, et al. Among authors: benrhouma h. Mol Genet Genomic Med. 2020 Dec;8(12):e1543. doi: 10.1002/mgg3.1543. Epub 2020 Nov 2. Mol Genet Genomic Med. 2020. PMID: 33135846 Free PMC article. Review.
43 results