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Page 1
Tutorial: Guidelines for Single-Cell RT-qPCR.
Zucha D, Kubista M, Valihrach L. Zucha D, et al. Cells. 2021 Sep 30;10(10):2607. doi: 10.3390/cells10102607. Cells. 2021. PMID: 34685587 Free PMC article. Review.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Mancuso M, Papadopoulou MT, Ng YS, Ardissone A, Bellusci M, Bertini E, Di Vito L, Evangelista T, Fons C, Hikmat O, Horvath R, Klopstock T, Kornblum C, Lamperti C, Licchetta L, Molnar MJ, Varhaug KN, O'Callaghan M, Pressler RM, Schiff M, Servidei S, Szabo N, Gorman GS, Cross JH, Rahman S. Mancuso M, et al. Eur J Neurol. 2024 Jul;31(7):e16275. doi: 10.1111/ene.16275. Epub 2024 Apr 4. Eur J Neurol. 2024. PMID: 38576261 Free PMC article.
Metabolomic analysis of dietary-restriction-induced attenuation of sarcopenia in prematurely aging DNA repair-deficient mice.
He Y, Yang W, Huang L, Mever MA, Ramautar R, Harms A, Rijksen Y, Brandt RMC, Barnhoorn S, Smit K, Jaarsma D, Lindenburg P, Hoeijmakers JHJ, Vermeij WP, Hankemeier T. He Y, et al. J Cachexia Sarcopenia Muscle. 2024 Jun;15(3):868-882. doi: 10.1002/jcsm.13433. Epub 2024 Apr 30. J Cachexia Sarcopenia Muscle. 2024. PMID: 38689513 Free PMC article.
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.
Mackay DJG, Gazdagh G, Monk D, Brioude F, Giabicani E, Krzyzewska IM, Kalish JM, Maas SM, Kagami M, Beygo J, Kahre T, Tenorio-Castano J, Ambrozaitytė L, Burnytė B, Cerrato F, Davies JH, Ferrero GB, Fjodorova O, Manero-Azua A, Pereda A, Russo S, Tannorella P, Temple KI, Õunap K, Riccio A, de Nanclares GP, Maher ER, Lapunzina P, Netchine I, Eggermann T, Bliek J, Tümer Z. Mackay DJG, et al. Clin Epigenetics. 2024 Aug 1;16(1):99. doi: 10.1186/s13148-024-01713-y. Clin Epigenetics. 2024. PMID: 39090763 Free PMC article. Review.
Chemotherapy Side-Effects: Not All DNA Damage Is Equal.
van den Boogaard WMC, Komninos DSJ, Vermeij WP. van den Boogaard WMC, et al. Cancers (Basel). 2022 Jan 26;14(3):627. doi: 10.3390/cancers14030627. Cancers (Basel). 2022. PMID: 35158895 Free PMC article. Review.
New variants expand the neurological phenotype of COQ7 deficiency.
Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julia-Palacios NA, Jou C, Yubero D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch R, Santos-Ocaña C. Fabra MA, et al. J Inherit Metab Dis. 2024 Sep;47(5):1047-1068. doi: 10.1002/jimd.12776. Epub 2024 Jul 8. J Inherit Metab Dis. 2024. PMID: 38973597
Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.
Vermeer FC, Bremer J, Sietsma RJ, Sandilands A, Hickerson RP, Bolling MC, Pasmooij AMG, Lemmink HH, Swertz MA, Knoers NVAM, van der Velde KJ, van den Akker PC. Vermeer FC, et al. Int J Mol Sci. 2021 Nov 12;22(22):12222. doi: 10.3390/ijms222212222. Int J Mol Sci. 2021. PMID: 34830104 Free PMC article. Review.
Aberrant neurodevelopment in human iPS cell-derived models of Alexander disease.
Matusova Z, Dykstra W, de Pablo Y, Zetterdahl OG, Canals I, van Gelder CAGH, Vos HR, Pérez-Sala D, Kubista M, Abaffy P, Ahlenius H, Valihrach L, Hol EM, Pekny M. Matusova Z, et al. Glia. 2025 Jan;73(1):57-79. doi: 10.1002/glia.24618. Epub 2024 Sep 23. Glia. 2025. PMID: 39308436 Free PMC article.
54 results