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Page 1
Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families.
Kraoua I, Jamoussi M, Drissi C, Kraoua L, Drunat S, Benrhouma H, Ben Younes T, Nagi S, Abdelhak S, Boespflug Tanguy O, Youssef-Turki IB, Trabelsi M, Dorboz I. Kraoua I, et al. Among authors: youssef turki ib. Mol Genet Genomic Med. 2024 Oct;12(10):e70007. doi: 10.1002/mgg3.70007. Mol Genet Genomic Med. 2024. PMID: 39436788 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: youssef turki ib. Brain. 2024 Jul 5;147(7):2334-2343. doi: 10.1093/brain/awae091. Brain. 2024. PMID: 38527963 Free PMC article.
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: youssef turki ib. Neuropediatrics. 2021 Aug;52(4):302-309. doi: 10.1055/s-0041-1728654. Epub 2021 Jun 30. Neuropediatrics. 2021. PMID: 34192786 Review.
Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology.
Lahbib S, Leblond CS, Hamza M, Regnault B, Lemée L, Mathieu A, Jaouadi H, Mkaouar R, Youssef-Turki IB, Belhadj A, Kraoua I, Bourgeron T, Abdelhak S. Lahbib S, et al. Among authors: youssef turki ib. J Appl Genet. 2019 Feb;60(1):49-56. doi: 10.1007/s13353-018-0472-3. Epub 2018 Oct 4. J Appl Genet. 2019. PMID: 30284680
A Case of Progressive Chorea Resulting From GLUT1 Deficiency.
Kraoua I, Benrhouma H, Vuillaumier-Barrot S, Klaa H, Youssef-Turki IB. Kraoua I, et al. Among authors: youssef turki ib. Mov Disord Clin Pract. 2015 Aug 18;2(4):424-425. doi: 10.1002/mdc3.12191. eCollection 2015 Dec. Mov Disord Clin Pract. 2015. PMID: 30363555 Free PMC article. No abstract available.
[An overview of neurometabolic diseases in Tunisia. a 3-year prospective study].
Kraoua I, Benrhouma H, Rouissi A, Youssef-Turki IB, Zouari B, Kaabachi N, Gouider-Khouja N. Kraoua I, et al. Among authors: youssef turki ib. Rev Neurol (Paris). 2009 Jun-Jul;165(6-7):568-74. doi: 10.1016/j.neurol.2008.10.027. Epub 2009 Jan 24. Rev Neurol (Paris). 2009. PMID: 19168196 French.