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126 results

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Page 1
Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.
Boot E, Butcher NJ, Udow S, Marras C, Mok KY, Kaneko S, Barrett MJ, Prontera P, Berman BD, Masellis M, Dufournet B, Nguyen K, Charles P, Mutez E, Danaila T, Jacquette A, Colin O, Drapier S, Borg M, Fiksinski AM, Vergaelen E, Swillen A, Vogels A, Plate A, Perandones C, Gasser T, Clerinx K, Bourdain F, Mills K, Williams NM, Wood NW, Booij J, Lang AE, Bassett AS; International Research Group on 22q11.2DS-associated Parkinson's Disease. Boot E, et al. Among authors: prontera p. Neurology. 2018 Jun 5;90(23):e2059-e2067. doi: 10.1212/WNL.0000000000005660. Epub 2018 May 11. Neurology. 2018. PMID: 29752303 Free PMC article.
A53T in a parkinsonian family: a clinical update of the SNCA phenotypes.
Tambasco N, Nigro P, Romoli M, Prontera P, Simoni S, Calabresi P. Tambasco N, et al. Among authors: prontera p. J Neural Transm (Vienna). 2016 Nov;123(11):1301-1307. doi: 10.1007/s00702-016-1578-6. Epub 2016 Jun 1. J Neural Transm (Vienna). 2016. PMID: 27250986 Review.
Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome).
Tambasco N, Paoletti FP, Prato G, Mancardi MM, Prontera P, Giordano L, Grosso S, Romeo A, Pinto F, Savasta S, Peruzzi C, Romoli M, Striano P, Verrotti A, Belcastro V; Società Italiana Neurologia Pediatrica (SINP) Collaborative Network. Tambasco N, et al. Among authors: prontera p. Eur J Paediatr Neurol. 2018 Nov;22(6):1081-1086. doi: 10.1016/j.ejpn.2018.08.004. Epub 2018 Aug 29. Eur J Paediatr Neurol. 2018. PMID: 30195408
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
Rooney K, Levy MA, Haghshenas S, Kerkhof J, Rogaia D, Tedesco MG, Imperatore V, Mencarelli A, Squeo GM, Di Venere E, Di Cara G, Verrotti A, Merla G, Tedder ML, DuPont BR, Sadikovic B, Prontera P. Rooney K, et al. Among authors: prontera p. Int J Mol Sci. 2021 Aug 10;22(16):8611. doi: 10.3390/ijms22168611. Int J Mol Sci. 2021. PMID: 34445317 Free PMC article.
Hot water epilepsy and Mccune-Albright syndrome: a case report.
Belcastro V, Parnetti L, Prontera P, Donti E, Rossi A, Tambasco N. Belcastro V, et al. Among authors: prontera p. Seizure. 2009 Mar;18(2):161-2. doi: 10.1016/j.seizure.2008.07.005. Epub 2008 Aug 15. Seizure. 2009. PMID: 18706835 Free article.
Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.
Marini C, Romoli M, Parrini E, Costa C, Mei D, Mari F, Parmeggiani L, Procopio E, Metitieri T, Cellini E, Virdò S, De Vita D, Gentile M, Prontera P, Calabresi P, Guerrini R. Marini C, et al. Among authors: prontera p. Neurol Genet. 2017 Dec 11;3(6):e206. doi: 10.1212/NXG.0000000000000206. eCollection 2017 Dec. Neurol Genet. 2017. PMID: 29264397 Free PMC article.
126 results