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Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke.
Ilinca A, Martinez-Majander N, Samuelsson S, Piccinelli P, Truvé K, Cole J, Kittner S, Soller M, Kristoffersson U, Tatlisumak T, Puschmann A, Putaala J, Lindgren A. Ilinca A, et al. Among authors: puschmann a. Stroke. 2020 Apr;51(4):1056-1063. doi: 10.1161/STROKEAHA.119.027474. Epub 2020 Mar 16. Stroke. 2020. PMID: 32172663 Free PMC article. Clinical Trial.
New generation genetic testing entering the clinic.
Gorcenco S, Ilinca A, Almasoudi W, Kafantari E, Lindgren AG, Puschmann A. Gorcenco S, et al. Among authors: puschmann a. Parkinsonism Relat Disord. 2020 Apr;73:72-84. doi: 10.1016/j.parkreldis.2020.02.015. Epub 2020 Mar 2. Parkinsonism Relat Disord. 2020. PMID: 32273229 Free article. Review.
Throat-Clearing Vocalizations in Primary Brain Calcification Syndromes.
Mulroy E, Ilinca A, Gonzalez-Robles C, Magrinelli F, Puschmann A, Bhatia KP. Mulroy E, et al. Among authors: puschmann a. Mov Disord Clin Pract. 2021 Mar 13;8(4):627-630. doi: 10.1002/mdc3.13175. eCollection 2021 May. Mov Disord Clin Pract. 2021. PMID: 33981802 Free PMC article. No abstract available.
Improving the likelihood of neurology patients being examined using patient feedback.
Appleton JP, Ilinca A, Lindgren A, Puschmann A, Hbahbih M, A Siddiqui K, de Silva R, Jones M, Butterworth R, Willmot M, Hayton T, Lunn M, Nicholl D. Appleton JP, et al. Among authors: a siddiqui k, puschmann a. BMJ Qual Improv Rep. 2015 Nov 5;4(1):u209610.w4063. doi: 10.1136/bmjquality.u209610.w4063. eCollection 2015. BMJ Qual Improv Rep. 2015. PMID: 26734445 Free PMC article.
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tu… See abstract for full author list ➔ Vollstedt EJ, et al. Among authors: puschmann a. Mov Disord. 2023 Feb;38(2):286-303. doi: 10.1002/mds.29288. Epub 2023 Jan 24. Mov Disord. 2023. PMID: 36692014
120 results