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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2011 1
2012 1
2013 4
2014 4
2015 4
2016 4
2017 6
2018 2
2019 1
2020 1
2021 1
2022 1
2024 0

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28 results

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Page 1
CASK related disorder: Epilepsy and developmental outcome.
Giacomini T, Nuovo S, Zanni G, Mancardi MM, Cusmai R, Pepi C, Bertini E, Valente EM, Battini R, Ferrari A, Romaniello R, Zucca C, Borgatti R, Uccella S, Severino M, Striano P, Pistorio A, Prato G, De Grandis E, Nobili L, Pisciotta L. Giacomini T, et al. Eur J Paediatr Neurol. 2021 Mar;31:61-69. doi: 10.1016/j.ejpn.2021.02.006. Epub 2021 Feb 19. Eur J Paediatr Neurol. 2021. PMID: 33640666
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
De Mori R, Severino M, Mancardi MM, Anello D, Tardivo S, Biagini T, Capra V, Casella A, Cereda C, Copeland BR, Gagliardi S, Gamucci A, Ginevrino M, Illi B, Lorefice E, Musaev D, Stanley V, Micalizzi A, Gleeson JG, Mazza T, Rossi A, Valente EM. De Mori R, et al. Brain. 2019 Oct 1;142(10):2965-2978. doi: 10.1093/brain/awz247. Brain. 2019. PMID: 31412107 Free PMC article.
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.
Nuovo S, Fuiano L, Micalizzi A, Battini R, Bertini E, Borgatti R, Caridi G, D'Arrigo S, Fazzi E, Fischetto R, Ghiggeri GM, Giordano L, Leuzzi V, Romaniello R, Signorini S, Stringini G, Zanni G, Romani M, Valente EM, Emma F. Nuovo S, et al. Nephrol Dial Transplant. 2020 Jul 1;35(7):1195-1202. doi: 10.1093/ndt/gfy333. Nephrol Dial Transplant. 2020. PMID: 30403813 Free PMC article.
Establishment of stable iPS-derived human neural stem cell lines suitable for cell therapies.
Rosati J, Ferrari D, Altieri F, Tardivo S, Ricciolini C, Fusilli C, Zalfa C, Profico DC, Pinos F, Bernardini L, Torres B, Manni I, Piaggio G, Binda E, Copetti M, Lamorte G, Mazza T, Carella M, Gelati M, Valente EM, Simeone A, Vescovi AL. Rosati J, et al. Cell Death Dis. 2018 Sep 17;9(10):937. doi: 10.1038/s41419-018-0990-2. Cell Death Dis. 2018. PMID: 30224709 Free PMC article.
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, Elkhartoufi N, Boutaud L, Micalizzi A, Brett MS, Venkatesh B, Valente EM, Attié-Bitach T, Reversade B, Kariminejad A. Bonnard C, et al. Eur J Med Genet. 2018 Oct;61(10):585-595. doi: 10.1016/j.ejmg.2018.03.012. Epub 2018 Mar 30. Eur J Med Genet. 2018. PMID: 29605658
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM. De Mori R, et al. Am J Hum Genet. 2017 Oct 5;101(4):552-563. doi: 10.1016/j.ajhg.2017.08.017. Epub 2017 Sep 28. Am J Hum Genet. 2017. PMID: 28965847 Free PMC article.
Genetic Paradoxes in an Italian Family with PARK2 Multiexon Duplication.
Petrucci S, Ferrazzano G, Ginevrino M, Tolve M, Berardelli I, Berardelli A, Fabbrini G, Valente EM. Petrucci S, et al. Mov Disord Clin Pract. 2017 Sep 8;4(6):889-892. doi: 10.1002/mdc3.12531. eCollection 2017 Nov-Dec. Mov Disord Clin Pract. 2017. PMID: 30713982 Free PMC article. No abstract available.
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect.
Vicario M, Calì T, Cieri D, Vallese F, Bortolotto R, Lopreiato R, Zonta F, Nardella M, Micalizzi A, Lefeber DJ, Valente EM, Bertini E, Zanotti G, Zanni G, Brini M, Carafoli E. Vicario M, et al. Biochim Biophys Acta Mol Basis Dis. 2017 Dec;1863(12):3303-3312. doi: 10.1016/j.bbadis.2017.08.006. Epub 2017 Aug 12. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28807751 Free article.
28 results