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Page 1
Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.
Bonora E, Graziano C, Minopoli F, Bacchelli E, Magini P, Diquigiovanni C, Lomartire S, Bianco F, Vargiolu M, Parchi P, Marasco E, Mantovani V, Rampoldi L, Trudu M, Parmeggiani A, Battaglia A, Mazzone L, Tortora G; IMGSAC; Maestrini E, Seri M, Romeo G. Bonora E, et al. Among authors: parchi p. EMBO Mol Med. 2014 Jun;6(6):795-809. doi: 10.1002/emmm.201303235. Epub 2014 Apr 6. EMBO Mol Med. 2014. PMID: 24737869 Free PMC article.
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G. Moghadam KK, et al. Among authors: parchi p. Brain. 2014 Jun;137(Pt 6):1643-55. doi: 10.1093/brain/awu069. Epub 2014 Apr 10. Brain. 2014. PMID: 24727570 Free article.
Messenger RNA processing is altered in autosomal dominant leukodystrophy.
Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S. Bartoletti-Stella A, et al. Among authors: parchi p. Hum Mol Genet. 2015 May 15;24(10):2746-56. doi: 10.1093/hmg/ddv034. Epub 2015 Jan 30. Hum Mol Genet. 2015. PMID: 25637521 Free PMC article.
Messenger RNA processing is altered in autosomal dominant leukodystrophy.
Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S. Bartoletti-Stella A, et al. Among authors: parchi p. Hum Mol Genet. 2017 Oct 1;26(19):3868. doi: 10.1093/hmg/ddx225. Hum Mol Genet. 2017. PMID: 28934398 Free PMC article. No abstract available.
Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis.
Capellari S, Baiardi S, Rinaldi R, Bartoletti-Stella A, Graziano C, Piras S, Calandra-Buonaura G, D'Angelo R, Terziotti C, Lodi R, Donadio V, Pironi L, Cortelli P, Parchi P. Capellari S, et al. Among authors: parchi p. Ann Clin Transl Neurol. 2018 Apr 26;5(6):777-783. doi: 10.1002/acn3.568. eCollection 2018 Jun. Ann Clin Transl Neurol. 2018. PMID: 29928661 Free PMC article.
Characterization of novel progranulin gene variants in Italian patients with neurodegenerative diseases.
Bartoletti-Stella A, De Pasqua S, Baiardi S, Bartolomei I, Mengozzi G, Orio G, Pastorelli F, Piras S, Poda R, Raggi A, Stanzani Maserati M, Tarozzi M, Liguori R, Salvi F, Parchi P, Capellari S. Bartoletti-Stella A, et al. Among authors: parchi p. Neurobiol Aging. 2021 Jan;97:145.e7-145.e15. doi: 10.1016/j.neurobiolaging.2020.05.004. Epub 2020 May 13. Neurobiol Aging. 2021. PMID: 32507413
Autonomic nervous system function in myotonic dystrophy.
Pierangeli G, Lugaresi A, Contin M, Martinelli P, Montagna P, Parchi P, Verlicchi A, Cortelli P. Pierangeli G, et al. Among authors: parchi p. Ital J Neurol Sci. 1992 Oct;13(7):589-92. doi: 10.1007/BF02233402. Ital J Neurol Sci. 1992. PMID: 1428793
Autonomic nervous system function in migraine without aura.
Cortelli P, Pierangeli G, Parchi P, Contin M, Baruzzi A, Lugaresi E. Cortelli P, et al. Among authors: parchi p. Headache. 1991 Jul;31(7):457-62. doi: 10.1111/j.1526-4610.1991.hed3107457.x. Headache. 1991. PMID: 1774161 Review.
351 results