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Year Number of Results
2003 1
2004 1
2005 3
2006 2
2007 4
2008 6
2009 3
2010 4
2011 4
2012 2
2013 5
2014 4
2015 5
2016 6
2017 4
2018 8
2019 15
2020 18
2021 7
2022 5
2023 10
2024 1

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104 results

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Page 1
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: pantaleoni c. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
Outcome measures for children with movement disorders.
Pagliano E, Baranello G, Masson R, Foscan M, Arnoldi MT, Marchi A, Aprile G, Pantaleoni C. Pagliano E, et al. Among authors: pantaleoni c. Eur J Paediatr Neurol. 2018 May;22(3):346-353. doi: 10.1016/j.ejpn.2018.01.014. Epub 2018 Feb 8. Eur J Paediatr Neurol. 2018. PMID: 29475818 Review.
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome.
Ciaccio C, Pantaleoni C, Moscatelli M, Chiapparini L, Nigro V, Valente EM, Sciacca F, Canafoglia L, Bulgheroni S, D'Arrigo S. Ciaccio C, et al. Among authors: pantaleoni c. Neurol Genet. 2023 Jan 23;9(2):e200049. doi: 10.1212/NXG.0000000000200049. eCollection 2023 Apr. Neurol Genet. 2023. PMID: 37090941 Free PMC article.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Scala M, et al. Brain. 2022 Sep 14;145(9):3308-3327. doi: 10.1093/brain/awac106. Brain. 2022. PMID: 35851598 Free PMC article.
Mowat-Wilson syndrome: growth charts.
Ivanovski I, Djuric O, Broccoli S, Caraffi SG, Accorsi P, Adam MP, Avela K, Badura-Stronka M, Bayat A, Clayton-Smith J, Cocco I, Cordelli DM, Cuturilo G, Di Pisa V, Dupont Garcia J, Gastaldi R, Giordano L, Guala A, Hoei-Hansen C, Inaba M, Iodice A, Nielsen JEK, Kuburovic V, Lazalde-Medina B, Malbora B, Mizuno S, Moldovan O, Møller RS, Muschke P, Otelli V, Pantaleoni C, Piscopo C, Poch-Olive ML, Prpic I, Marín Reina P, Raviglione F, Ricci E, Scarano E, Simonte G, Smigiel R, Tanteles G, Tarani L, Trimouille A, Valera ET, Schrier Vergano S, Writzl K, Callewaert B, Savasta S, Street ME, Iughetti L, Bernasconi S, Giorgi Rossi P, Garavelli L. Ivanovski I, et al. Among authors: pantaleoni c. Orphanet J Rare Dis. 2020 Jun 15;15(1):151. doi: 10.1186/s13023-020-01418-4. Orphanet J Rare Dis. 2020. PMID: 32539836 Free PMC article.
Neurological phenotype of Potocki-Lupski syndrome.
Ciaccio C, Pantaleoni C, Milani D, Alfei E, Sciacca FL, Canafoglia L, Erbetta A, D'Arrigo S. Ciaccio C, et al. Among authors: pantaleoni c. Am J Med Genet A. 2020 Oct;182(10):2317-2324. doi: 10.1002/ajmg.a.61789. Epub 2020 Aug 15. Am J Med Genet A. 2020. PMID: 33043631
Vasculogenic and Angiogenic Pathways in Moyamoya Disease.
Bedini G, Blecharz KG, Nava S, Vajkoczy P, Alessandri G, Ranieri M, Acerbi F, Ferroli P, Riva D, Esposito S, Pantaleoni C, Nardocci N, Zibordi F, Ciceri E, Parati EA, Bersano A. Bedini G, et al. Among authors: pantaleoni c. Curr Med Chem. 2016;23(4):315-45. doi: 10.2174/092986732304160204181543. Curr Med Chem. 2016. PMID: 26861126 Review.
Abnormal cerebellar foliation in EBF3 mutation.
D'Arrigo S, Moscatelli M, Ciaccio C, Pantaleoni C, Castello R, Chiapparini L; TUDP Study Group. D'Arrigo S, et al. Among authors: pantaleoni c. Neurology. 2020 May 26;94(21):933-935. doi: 10.1212/WNL.0000000000009486. Epub 2020 May 4. Neurology. 2020. PMID: 32366537 No abstract available.
104 results