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207 results

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Page 1
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.
Carpentieri G, Cecchetti S, Bocchinfuso G, Radio FC, Leoni C, Onesimo R, Calligari P, Pietrantoni A, Ciolfi A, Ferilli M, Calderan C, Cappuccio G, Martinelli S, Messina E, Caputo V, Hüffmeier U, Mignot C, Auvin S, Capri Y, Lourenco CM, Russell BE, Neustad A, Brunetti Pierri N, Keren B, Reis A, Cohen JS, Heidlebaugh A, Smith C, Thiel CT, Salviati L, Zampino G, Campeau PM, Stella L, Tartaglia M, Flex E. Carpentieri G, et al. Among authors: salviati l. HGG Adv. 2024 Oct 10;5(4):100349. doi: 10.1016/j.xhgg.2024.100349. Epub 2024 Aug 29. HGG Adv. 2024. PMID: 39210597 Free PMC article.
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Mastromoro G, Santoro C, Motta M, Sorrentino U, Daniele P, Peduto C, Petrizzelli F, Tripodi M, Pinna V, Zanobio M, Rotundo G, Bellacchio E, Lepri F, Farina A, D'Asdia MC, Piceci-Sparascio F, Biagini T, Petracca A, Castori M, Melis D, Accadia M, Traficante G, Tarani L, Fontana P, Sirchia F, Paparella R, Currò A, Benedicenti F, Scala I, Dentici ML, Leoni C, Trevisan V, Cecconi A, Giustini S, Pizzuti A, Salviati L, Novelli A, Zampino G, Zenker M, Genuardi M, Digilio MC, Papi L, Perrotta S, Nigro V, Castellanos E, Mazza T, Trevisson E, Tartaglia M, Piluso G, De Luca A. Mastromoro G, et al. Among authors: salviati l. Genet Med. 2024 Nov;26(11):101241. doi: 10.1016/j.gim.2024.101241. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140257
Non-Motor Symptoms in Primary Familial Brain Calcification.
Bonato G, Cimino P, Pistonesi F, Salviati L, Bertolin C, Carecchio M. Bonato G, et al. Among authors: salviati l. J Clin Med. 2024 Jun 30;13(13):3873. doi: 10.3390/jcm13133873. J Clin Med. 2024. PMID: 38999439 Free PMC article.
C16ORF70/MYTHO promotes healthy aging in C.elegans and prevents cellular senescence in mammals.
Franco-Romero A, Morbidoni V, Milan G, Sartori R, Wulff J, Romanello V, Armani A, Salviati L, Conte M, Salvioli S, Franceschi C, Buonomo V, Swoboda CO, Grumati P, Pannone L, Martinelli S, Jefferies HB, Dikic I, van der Laan J, Cabreiro F, Millay DP, Tooze SA, Trevisson E, Sandri M. Franco-Romero A, et al. Among authors: salviati l. J Clin Invest. 2024 Jun 13;134(15):e165814. doi: 10.1172/JCI165814. J Clin Invest. 2024. PMID: 38869949 Free PMC article.
TP53 DNA binding domain mutational status and rituximabbased treatment are independent prognostic factors for pediatric Burkitt lymphoma patients stratification.
Martire G, Lovisa F, Carraro E, Rizzato D, Cesaro S, Mura RM, Tondo A, Bertolin C, Boaretto F, Salviati L, Biffi A, Pillon M, Mussolin L. Martire G, et al. Among authors: salviati l. Haematologica. 2024 Sep 1;109(9):3031-3036. doi: 10.3324/haematol.2023.284868. Haematologica. 2024. PMID: 38385281 Free PMC article. No abstract available.
207 results