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27 results

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Page 1
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).
Viswanathan S, Oliver KL, Regan BM, Schneider AL, Myers CT, Mehaffey MG, LaCroix AJ, Antony J, Webster R, Cardamone M, Subramanian GM, Chiu ATG, Roza E, Teleanu RI, Malone S, Leventer RJ, Gill D, Berkovic SF, Hildebrand MS, Goad BS, Howell KB, Symonds JD, Brunklaus A, Sadleir LG, Zuberi SM, Mefford HC, Scheffer IE. Viswanathan S, et al. Among authors: teleanu ri. Ann Neurol. 2024 Nov;96(5):932-943. doi: 10.1002/ana.27041. Epub 2024 Aug 2. Ann Neurol. 2024. PMID: 39096015
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Among authors: teleanu ri. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
The Role of Video-EEG Monitoring in Lesch-Nyhan Syndrome.
Roza E, Baloi AD, Plaiasu V, Teleanu RI. Roza E, et al. Among authors: teleanu ri. Maedica (Bucur). 2023 Jun;18(2):348-351. doi: 10.26574/maedica.2023.18.2.348. Maedica (Bucur). 2023. PMID: 37588833 Free PMC article.
The State of the Art of Pediatric Multiple Sclerosis.
Teleanu RI, Niculescu AG, Vladacenco OA, Roza E, Perjoc RS, Teleanu DM. Teleanu RI, et al. Int J Mol Sci. 2023 May 4;24(9):8251. doi: 10.3390/ijms24098251. Int J Mol Sci. 2023. PMID: 37175954 Free PMC article. Review.
Functional Neurological Disorder-Old Problem New Perspective.
Perjoc RS, Roza E, Vladacenco OA, Teleanu DM, Neacsu R, Teleanu RI. Perjoc RS, et al. Among authors: teleanu ri. Int J Environ Res Public Health. 2023 Jan 8;20(2):1099. doi: 10.3390/ijerph20021099. Int J Environ Res Public Health. 2023. PMID: 36673871 Free PMC article. Review.
Recent Advances in Managing Spinal Intervertebral Discs Degeneration.
Costăchescu B, Niculescu AG, Teleanu RI, Iliescu BF, Rădulescu M, Grumezescu AM, Dabija MG. Costăchescu B, et al. Among authors: teleanu ri. Int J Mol Sci. 2022 Jun 9;23(12):6460. doi: 10.3390/ijms23126460. Int J Mol Sci. 2022. PMID: 35742903 Free PMC article. Review.
27 results