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Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach A, Hordijk R, Bast T, Wimmer K, Lo CN, Shorvon S, Mefford H, Eichler EE, Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H. Tucci A, et al. Hum Mutat. 2013 Feb;34(2):296-300. doi: 10.1002/humu.22241. Epub 2012 Nov 27. Hum Mutat. 2013. PMID: 23086778 Free PMC article.
Genetic variability at the PARK16 locus.
Tucci A, Nalls MA, Houlden H, Revesz T, Singleton AB, Wood NW, Hardy J, Paisán-Ruiz C. Tucci A, et al. Eur J Hum Genet. 2010 Dec;18(12):1356-9. doi: 10.1038/ejhg.2010.125. Epub 2010 Aug 4. Eur J Hum Genet. 2010. PMID: 20683486 Free PMC article.
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.
Setó-Salvia N, Pagonabarraga J, Houlden H, Pascual-Sedano B, Dols-Icardo O, Tucci A, Paisán-Ruiz C, Campolongo A, Antón-Aguirre S, Martín I, Muñoz L, Bufill E, Vilageliu L, Grinberg D, Cozar M, Blesa R, Lleó A, Hardy J, Kulisevsky J, Clarimón J. Setó-Salvia N, et al. Among authors: tucci a. Mov Disord. 2012 Mar;27(3):393-9. doi: 10.1002/mds.24045. Epub 2011 Dec 15. Mov Disord. 2012. PMID: 22173904
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
Tucci A, Liu YT, Preza E, Pitceathly RD, Chalasani A, Plagnol V, Land JM, Trabzuni D, Ryten M; UKBEC; Jaunmuktane Z, Reilly MM, Brandner S, Hargreaves I, Hardy J, Singleton AB, Abramov AY, Houlden H. Tucci A, et al. J Neurol Neurosurg Psychiatry. 2014 May;85(5):486-92. doi: 10.1136/jnnp-2013-306387. Epub 2013 Nov 6. J Neurol Neurosurg Psychiatry. 2014. PMID: 24198383 Free PMC article.
Novel CLN3 mutation causing autophagic vacuolar myopathy.
Cortese A, Tucci A, Piccolo G, Galimberti CA, Fratta P, Marchioni E, Grampa G, Cereda C, Grieco G, Ricca I, Pittman A, Ciscato P, Napoli L, Lucchini V, Ripolone M, Violano R, Fagiolari G, Mole SE, Hardy J, Moglia A, Moggio M. Cortese A, et al. Among authors: tucci a. Neurology. 2014 Jun 10;82(23):2072-6. doi: 10.1212/WNL.0000000000000490. Epub 2014 May 14. Neurology. 2014. PMID: 24827497 Free PMC article.
Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.
Schottlaender LV, Polke JM, Ling H, MacDoanld ND, Tucci A, Nanji T, Pittman A, de Silva R, Holton JL, Revesz T, Sweeney MG, Singleton AB, Lees AJ, Bhatia KP, Houlden H. Schottlaender LV, et al. Among authors: tucci a. Neurobiol Aging. 2015 Feb;36(2):1221.e1-6. doi: 10.1016/j.neurobiolaging.2014.08.024. Epub 2014 Aug 27. Neurobiol Aging. 2015. PMID: 25308964 Free PMC article.
479 results