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Page 1
Reticulon 2 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: ben younes t. Brain. 2024 Mar 25:awae091. doi: 10.1093/brain/awae091. Online ahead of print. Brain. 2024. PMID: 38527963
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: ben younes t. 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.
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S; Genomics England Research Consortium; Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A, Parker J, Hoskins B, Pressler R, Sudhakar S, DeVile C, Homfray T, Kaliakatsos M; Ponnudas (Prab) Prabhakar; Robinson R, Keim SMB, Habibi I, Reymond A, Sisodiya SM, Hurst JA. Ververi A, et al. Among authors: ben younes t. Hum Mol Genet. 2023 Jan 27;32(4):580-594. doi: 10.1093/hmg/ddac225. Hum Mol Genet. 2023. PMID: 36067010 Free PMC article.
Autoimmune Encephalitis in Tunisia: Report of a Pediatric Cohort.
Douma B, Ben Younes T, Benrhouma H, Miladi Z, Zamali I, Rouissi A, Klaa H, Kraoua I, Ben Ahmed M, Ben Youssef Turki I. Douma B, et al. Among authors: ben younes t. J Immunol Res. 2021 May 10;2021:6666117. doi: 10.1155/2021/6666117. eCollection 2021. J Immunol Res. 2021. PMID: 34056010 Free PMC article.
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: ben younes t. 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.
Pure word deafness revealing ischemic stroke in a Tunisian patient.
Ben Younes T, Messelmani M, Mansour M, Zaouali J, Mrissa R. Ben Younes T, et al. Clin Neurol Neurosurg. 2019 Dec;187:105541. doi: 10.1016/j.clineuro.2019.105541. Epub 2019 Oct 11. Clin Neurol Neurosurg. 2019. PMID: 31634684 No abstract available.
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