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Page 1
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning TJ, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klünemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh F, Topçu M, Tranchant C, Walterfang M, Velten C, Kolb SA. Hendriksz CJ, et al. Among authors: padovani a. Curr Med Res Opin. 2017 May;33(5):877-890. doi: 10.1080/03007995.2017.1294054. Epub 2017 Mar 2. Curr Med Res Opin. 2017. PMID: 28276873 Free article. Review.
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.
van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Engelborghs S, Philtjens S, Vandenbulcke M, Sleegers K, Sieben A, Bäumer V, Maes G, Corsmit E, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schmid J, de Mendonça A, Miltenberger-Miltenyi G, Pereira S, Pimentel J, Nacmias B, Bagnoli S, Sorbi S, Graff C, Chiang HH, Westerlund M, Sanchez-Valle R, Llado A, Gelpi E, Santana I, Almeida MR, Santiago B, Frisoni G, Zanetti O, Bonvicini C, Synofzik M, Maetzler W, Vom Hagen JM, Schöls L, Heneka MT, Jessen F, Matej R, Parobkova E, Kovacs GG, Ströbel T, Sarafov S, Tournev I, Jordanova A, Danek A, Arzberger T, Fabrizi GM, Testi S, Salmon E, Santens P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C, van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Philtjens S, Sleegers K, Bäumer V, Maes G, Corsmit E, Cruts M, Van Broeckhoven C, van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Philtjens S, Theuns J, Sleegers K, Bäumer V, Maes G, Cruts M, Van Broeckhoven C, Engelborghs S, De Deyn PP, Cras P, Engelborghs S, De Deyn PP, Vandenbulcke M, Vandenbulcke M, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schm… See abstract for full author list ➔ van der Zee J, et al. Among authors: padovani a. Hum Mutat. 2013 Feb;34(2):363-73. doi: 10.1002/humu.22244. Epub 2013 Jan 4. Hum Mutat. 2013. PMID: 23111906 Free PMC article.
Clinical Presentation and Outcomes of Severe Acute Respiratory Syndrome Coronavirus 2-Related Encephalitis: The ENCOVID Multicenter Study.
Pilotto A, Masciocchi S, Volonghi I, Crabbio M, Magni E, De Giuli V, Caprioli F, Rifino N, Sessa M, Gennuso M, Cotelli MS, Turla M, Balducci U, Mariotto S, Ferrari S, Ciccone A, Fiacco F, Imarisio A, Risi B, Benussi A, Premi E, Focà E, Caccuri F, Leonardi M, Gasparotti R, Castelli F, Zanusso G, Pezzini A, Padovani A; SARS-CoV-2 related encephalopaties (ENCOVID) Study Group. Pilotto A, et al. Among authors: padovani a. J Infect Dis. 2021 Jan 4;223(1):28-37. doi: 10.1093/infdis/jiaa609. J Infect Dis. 2021. PMID: 32986824 Free PMC article.
Thrombolysis in cervical artery dissection--data from the Cervical Artery Dissection and Ischaemic Stroke Patients (CADISP) database.
Engelter ST, Dallongeville J, Kloss M, Metso TM, Leys D, Brandt T, Samson Y, Caso V, Pezzini A, Sessa M, Beretta S, Debette S, Grond-Ginsbach C, Metso AJ, Thijs V, Lamy C, Medeiros E, Martin JJ, Bersano A, Tatlisumak T, Touzé E, Lyrer PA; Cervical Artery Dissection and Ischaemic Stroke Patients-Study Group. Engelter ST, et al. Eur J Neurol. 2012 Sep;19(9):1199-206. doi: 10.1111/j.1468-1331.2012.03704.x. Epub 2012 Mar 26. Eur J Neurol. 2012. PMID: 22448957
CADISP-genetics: an International project searching for genetic risk factors of cervical artery dissections.
Debette S, Metso TM, Pezzini A, Engelter ST, Leys D, Lyrer P, Metso AJ, Brandt T, Kloss M, Lichy C, Hausser I, Touzé E, Markus HS, Abboud S, Caso V, Bersano A, Grau A, Altintas A, Amouyel P, Tatlisumak T, Dallongeville J, Grond-Ginsbach C; CADISP-group. Debette S, et al. Int J Stroke. 2009 Jun;4(3):224-30. doi: 10.1111/j.1747-4949.2009.00281.x. Int J Stroke. 2009. PMID: 19659826
Plasma homocysteine concentration, C677T MTHFR genotype, and 844ins68bp CBS genotype in young adults with spontaneous cervical artery dissection and atherothrombotic stroke.
Pezzini A, Del Zotto E, Archetti S, Negrini R, Bani P, Albertini A, Grassi M, Assanelli D, Gasparotti R, Vignolo LA, Magoni M, Padovani A. Pezzini A, et al. Among authors: padovani a. Stroke. 2002 Mar;33(3):664-9. doi: 10.1161/hs0302.103625. Stroke. 2002. PMID: 11872884 Free article.
Elevated peripheral leukocyte counts in acute cervical artery dissection.
Grond-Ginsbach C, Giossi A, Aksay SS, Engelter ST, Lyrer PA, Metso TM, Metso AJ, Tatlisumak T, Debette S, Leys D, Thijs V, Bersano A, Abboud S, Kloss M, Lichy C, Grau A, Pezzini A, Touzé E; CADISP group. Grond-Ginsbach C, et al. Eur J Neurol. 2013 Oct;20(10):1405-10. doi: 10.1111/ene.12201. Epub 2013 Jun 12. Eur J Neurol. 2013. PMID: 23879551
996 results