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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmannd S. Vogel GF, et al. Among authors: schiff m. Genet Med. 2023 Jun;25(6):100828. doi: 10.1016/j.gim.2023.100828. Epub 2023 Apr 13. Genet Med. 2023. PMID: 37272928 Free article. No abstract available.
258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands.
Diodato D, Schiff M, Cohen BH, Bertini E, Rahman S; Workshop participants. Diodato D, et al. Among authors: schiff m. Neuromuscul Disord. 2023 Aug;33(8):700-709. doi: 10.1016/j.nmd.2023.06.002. Epub 2023 Jun 15. Neuromuscul Disord. 2023. PMID: 37541860 No abstract available.
Nifuroxazide rescues the deleterious effects due to CHCHD10-associated MICOS defects in disease models.
Ropert B, Bannwarth S, Genin EC, Vaillant-Beuchot L, Lacas-Gervais S, Hounoum BM, Bernardin A, Dinh N, Mauri-Crouzet A, D'Elia MA, Augé G, Lespinasse F, Di Giorgio A, Meira W, Bonnefoy N, Monassier L, Schiff M, Sago L, Kilinc D, Brau F, Redeker V, Bohl D, Tribouillard-Tanvier D, Procaccio V, Azoulay S, Ricci JE, Delahodde A, Paquis-Flucklinger V. Ropert B, et al. Among authors: schiff m. Brain. 2024 Oct 30:awae348. doi: 10.1093/brain/awae348. Online ahead of print. Brain. 2024. PMID: 39478664
Cardiac MRI Predictors of Arrhythmic Sudden Cardiac Events in Patients With Fontan Circulation.
Wolfe NK, Schiff MD, Olivieri LJ, Christopher AB, Fogel M, Slesnick TC, Krishnamurthy R, Muthurangu V, Dorfman AL, Lam CZ, Weigand J, Robinson JD, Rathod RH, Alsaied T; FORCE Investigators. Wolfe NK, et al. Among authors: schiff md. J Am Coll Cardiol. 2024 Oct 14:S0735-1097(24)08394-3. doi: 10.1016/j.jacc.2024.08.063. Online ahead of print. J Am Coll Cardiol. 2024. PMID: 39453360
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: schiff m. medRxiv [Preprint]. 2024 Aug 21:2024.08.19.24312079. doi: 10.1101/2024.08.19.24312079. medRxiv. 2024. PMID: 39371131 Free PMC article. Preprint.
Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.
Bouchereau J, Wicker C, Mention K, Marbach C, Do Cao J, Berat CM, Jaroussie M, Cano A, Gorce M, Garros A, Kuster A, Hoebeke C, Mayer C, Brassier A, Gouya L, Schrimpf C, Arnoux JB, Schiff M, Acquaviva-Bourdain C, Benoist JF, Courapied S, Broué P, Oualha M, Douillard C, de Lonlay P. Bouchereau J, et al. Among authors: schiff m. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108579. doi: 10.1016/j.ymgme.2024.108579. Epub 2024 Sep 14. Mol Genet Metab. 2024. PMID: 39305737
701 results