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Page 1
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.
Danti FR, Galosi S, Romani M, Montomoli M, Carss KJ, Raymond FL, Parrini E, Bianchini C, McShane T, Dale RC, Mohammad SS, Shah U, Mahant N, Ng J, McTague A, Samanta R, Vadlamani G, Valente EM, Leuzzi V, Kurian MA, Guerrini R. Danti FR, et al. Among authors: valente em. Neurol Genet. 2017 Mar 21;3(2):e143. doi: 10.1212/NXG.0000000000000143. eCollection 2017 Apr. Neurol Genet. 2017. PMID: 28357411 Free PMC article.
Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies.
Lo HP, Bertini E, Mirabella M, Domazetovska A, Dale RC, Petrini S, D'Amico A, Valente EM, Barresi R, Roberts M, Tozzi G, Tasca G, Cooper ST, Straub V, North KN. Lo HP, et al. Among authors: valente em. Neuromuscul Disord. 2011 Mar;21(3):194-203. doi: 10.1016/j.nmd.2010.11.015. Epub 2011 Feb 4. Neuromuscul Disord. 2011. PMID: 21295981
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients.
Briguglio M, Pinelli L, Giordano L, Ferraris A, Germanò E, Micheletti S, Severino M, Bernardini L, Loddo S, Tortorella G, Ormitti F, Gasparotti R; CBCD Study Group; Rossi A, Valente EM. Briguglio M, et al. Among authors: valente em. Orphanet J Rare Dis. 2011 Jun 8;6:36. doi: 10.1186/1750-1172-6-36. Orphanet J Rare Dis. 2011. PMID: 21651769 Free PMC article.
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
Gardiner AR, Bhatia KP, Stamelou M, Dale RC, Kurian MA, Schneider SA, Wali GM, Counihan T, Schapira AH, Spacey SD, Valente EM, Silveira-Moriyama L, Teive HA, Raskin S, Sander JW, Lees A, Warner T, Kullmann DM, Wood NW, Hanna M, Houlden H. Gardiner AR, et al. Among authors: valente em. Neurology. 2012 Nov 20;79(21):2115-21. doi: 10.1212/WNL.0b013e3182752c5a. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077024 Free PMC article.
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM. Roosing S, et al. Among authors: valente em. J Med Genet. 2016 Sep;53(9):608-15. doi: 10.1136/jmedgenet-2016-103832. Epub 2016 May 6. J Med Genet. 2016. PMID: 27208211 Free PMC article.
361 results