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Page 1
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.
Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H; DDD Study; Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. Smith TB, et al. Among authors: elmaleh berges m. Am J Hum Genet. 2024 Dec 14:S0002-9297(24)00416-6. doi: 10.1016/j.ajhg.2024.11.007. Online ahead of print. Am J Hum Genet. 2024. PMID: 39701103 Free article.
Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.
Smith TB, Kopajtich R, Demain LAM, Rea A, Thomas HB, Schiff M, Beetz C, Joss S, Conway GS, Shukla A, Yeole M, Radhakrishnan P, Azzouz H, Ben Chehida A, Elmaleh-Bergès M, Glasgow RIC, Thompson K, Oláhová M, He L, Jenkinson EM, Jahic A, Belyantseva IA, Barzik M, Urquhart JE, O' Sullivan J, Williams SG, Bhaskar SS, Carrera S, Blakes AJM, Banka S, Yue WW, Ellingford JM, Houlden H; DDD Study; Munro KJ, Friedman TB, Taylor RW, Prokisch H, O'Keefe RT, Newman WG. Smith TB, et al. Among authors: elmaleh berges m. medRxiv [Preprint]. 2024 Aug 21:2024.08.19.24312079. doi: 10.1101/2024.08.19.24312079. medRxiv. 2024. Update in: Am J Hum Genet. 2024 Dec 14:S0002-9297(24)00416-6. doi: 10.1016/j.ajhg.2024.11.007 PMID: 39371131 Free PMC article. Updated. Preprint.
Hearing loss and vestibular dysfunction in congenital CMV infection: Could it be due to endolymphatic pressure anomaly? A preliminary study.
Kahn L, Poillon G, Elmaleh-Bergès M, Litman-Roventa L, Chebib E, Teissier N, Maudoux A. Kahn L, et al. Among authors: elmaleh berges m. Int J Pediatr Otorhinolaryngol. 2024 Nov 19;188:112172. doi: 10.1016/j.ijporl.2024.112172. Online ahead of print. Int J Pediatr Otorhinolaryngol. 2024. PMID: 39642810 Free article.
Neuroimaging Insights into Brain Mechanisms of Early-onset Restrictive Eating Disorders.
Moreau CA, Ayrolles A, Ching CRK, Bonicel R, Mathieu A, Stordeur C, Bergeret P, Traut N, Tran L, Germanaud D, Alison M, Elmaleh-Bergès M, Ehrlich S, Thompson PM, Bourgeron T, Delorme R. Moreau CA, et al. Among authors: elmaleh berges m. medRxiv [Preprint]. 2024 Nov 13:2024.11.12.24317128. doi: 10.1101/2024.11.12.24317128. medRxiv. 2024. PMID: 39606373 Free PMC article. Preprint.
Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients.
Goodkey K, Wischmeijer A, Perrin L, Watson AES, Qureshi L, Cordelli DM, Toni F, Gnazzo M, Benedicenti F, Elmaleh-Berges M, Low KJ, Voronova A. Goodkey K, et al. Among authors: elmaleh berges m. BMC Med. 2024 Jul 11;22(1):292. doi: 10.1186/s12916-024-03519-4. BMC Med. 2024. PMID: 38992656 Free PMC article. No abstract available.
Olfactory bulb anomalies in KBG syndrome mouse model and patients.
Goodkey K, Wischmeijer A, Perrin L, Watson AES, Qureshi L, Cordelli DM, Toni F, Gnazzo M, Benedicenti F, Elmaleh-Bergès M, Low KJ, Voronova A. Goodkey K, et al. Among authors: elmaleh berges m. BMC Med. 2024 Apr 15;22(1):158. doi: 10.1186/s12916-024-03363-6. BMC Med. 2024. PMID: 38616269 Free PMC article.
Mapping corpus callosum surface reduction in fetal alcohol spectrum disorders with sulci and connectivity-based parcellation.
Fraize J, Convert G, Leprince Y, Sylvestre-Marconville F, Kerdreux E, Auzias G, Lefèvre J, Delorme R, Elmaleh-Bergès M, Hertz-Pannier L, Germanaud D. Fraize J, et al. Among authors: elmaleh berges m. Front Neurosci. 2023 Jun 9;17:1188367. doi: 10.3389/fnins.2023.1188367. eCollection 2023. Front Neurosci. 2023. PMID: 37360177 Free PMC article.
Enhancing fetal alcohol spectrum disorders diagnosis with a classifier based on the intracerebellar gradient of volumetric undersizing.
Fraize J, Fischer C, Elmaleh-Bergès M, Kerdreux E, Beggiato A, Ntorkou A, Duchesnay E, Bekha D, Boespflug-Tanguy O, Delorme R, Hertz-Pannier L, Germanaud D. Fraize J, et al. Among authors: elmaleh berges m. Hum Brain Mapp. 2023 Aug 1;44(11):4321-4336. doi: 10.1002/hbm.26348. Epub 2023 May 20. Hum Brain Mapp. 2023. PMID: 37209313 Free PMC article.
66 results