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Page 1
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, Krü… See abstract for full author list ➔ Vollstedt EJ, et al. Among authors: de carvalho aguiar p, van de warrenburg b, de rosa a, de michele g. Mov Disord. 2023 Feb;38(2):286-303. doi: 10.1002/mds.29288. Epub 2023 Jan 24. Mov Disord. 2023. PMID: 36692014 Free article.
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Among authors: van de warrenburg b. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Eur J Hum Genet. 2021. PMID: 33972714 Free PMC article. No abstract available.
Randomized double-blind placebo-controlled trial of the effects of oral trehalose in spinocerebellar ataxia type 3: An interim analysis.
Yap KH, Azmin S, Abdul Manan H, Yahya N, Ahmad N, Tajurudin FW, Mat Desa SH, van de Warrenburg B, Mohamed Mukari SA, Achok HN, Ahmad Damanhuri H, Rani R, Mohamed Ibrahim N. Yap KH, et al. Among authors: van de warrenburg b. Parkinsonism Relat Disord. 2024 Jul;124:107013. doi: 10.1016/j.parkreldis.2024.107013. Epub 2024 May 24. Parkinsonism Relat Disord. 2024. PMID: 38843619 Clinical Trial.
Are clinical tests and biomechanical measures of gait stability able to differentiate fallers from non-fallers in hereditary spastic paraplegia?
van de Venis L, Ormiston J, Bruijn S, Geurts ACH, van de Warrenburg BPC, Weerdesteyn V, Keijsers N, Nonnekes J. van de Venis L, et al. Among authors: van de warrenburg bpc. Gait Posture. 2024 Oct;114:270-276. doi: 10.1016/j.gaitpost.2024.10.017. Epub 2024 Oct 16. Gait Posture. 2024. PMID: 39437479 Free article.
Cerebellar volumetry in ataxias: Relation to ataxia severity and duration.
Ferreira M, Schaprian T, Kügler D, Reuter M, Deike-Hoffmann K, Timmann D, Ernst TM, Giunti P, Garcia-Moreno H, van de Warrenburg B, van Gaalen J, de Vries J, Jacobi H, Steiner KM, Öz G, Joers JM, Onyike C, Povazan M, Reetz K, Romanzetti S, Klockgether T, Faber J. Ferreira M, et al. Among authors: van de warrenburg b, de vries j, van gaalen j. Res Sq [Preprint]. 2023 Nov 16:rs.3.rs-3605029. doi: 10.21203/rs.3.rs-3605029/v1. Res Sq. 2023. Update in: Cerebellum. 2024 Aug;23(4):1521-1529. doi: 10.1007/s12311-024-01659-0. PMID: 38014351 Free PMC article. Updated. Preprint.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
403 results