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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1989 1
1990 1
1991 2
1992 2
1993 1
1994 2
1999 1
2000 1
2001 4
2002 8
2003 1
2004 3
2005 7
2006 3
2007 2
2008 3
2009 2
2010 2
2011 3
2012 2
2013 3
2014 6
2015 3
2016 4
2017 4
2018 5
2019 5
2020 1
2021 3
2022 2
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Search Results

77 results
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Page 1
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Kuipers DJS, Mandemakers W, Lu CS, Olgiati S, Breedveld GJ, Fevga C, Tadic V, Carecchio M, Osterman B, Sagi-Dain L, Wu-Chou YH, Chen CC, Chang HC, Wu SL, Yeh TH, Weng YH, Elia AE, Panteghini C, Marotta N, Pauly MG, Kühn AA, Volkmann J, Lace B, Meijer IA, Kandaswamy K, Quadri M, Garavaglia B, Lohmann K, Bauer P, Mencacci NE, Lubbe SJ, Klein C, Bertoli-Avella AM, Bonifati V. Kuipers DJS, et al. Among authors: breedveld gj. Ann Neurol. 2021 Mar;89(3):485-497. doi: 10.1002/ana.25973. Epub 2020 Dec 15. Ann Neurol. 2021. PMID: 33236446 Free PMC article.
LRP10 in α-synucleinopathies - Authors' reply.
Quadri M, Mandemakers W, Kuipers D, Breedveld GJ, Bonifati V. Quadri M, et al. Among authors: breedveld gj. Lancet Neurol. 2018 Dec;17(12):1035-1036. doi: 10.1016/S1474-4422(18)30408-3. Epub 2018 Nov 13. Lancet Neurol. 2018. PMID: 30507388 No abstract available.
A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease.
Fevga C, Park Y, Lohmann E, Kievit AJ, Breedveld GJ, Ferraro F, de Boer L, van Minkelen R, Hanagasi H, Boon A, Wang W, Petsko GA, Hoang QQ, Emre M, Bonifati V. Fevga C, et al. Among authors: breedveld gj. Parkinsonism Relat Disord. 2021 Aug;89:63-72. doi: 10.1016/j.parkreldis.2021.06.023. Epub 2021 Jun 29. Parkinsonism Relat Disord. 2021. PMID: 34229155 Free PMC article.
ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.
Bouwkamp CG, Afawi Z, Fattal-Valevski A, Krabbendam IE, Rivetti S, Masalha R, Quadri M, Breedveld GJ, Mandel H, Tailakh MA, Beverloo HB, Stevanin G, Brice A, van IJcken WFJ, Vernooij MW, Dolga AM, de Vrij FMS, Bonifati V, Kushner SA. Bouwkamp CG, et al. Among authors: breedveld gj. Neurol Genet. 2018 Mar 21;4(2):e223. doi: 10.1212/NXG.0000000000000223. eCollection 2018 Apr. Neurol Genet. 2018. PMID: 29577077 Free PMC article.
LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson's disease and dementia with Lewy bodies.
Grochowska MM, Carreras Mascaro A, Boumeester V, Natale D, Breedveld GJ, Geut H, van Cappellen WA, Boon AJW, Kievit AJA, Sammler E; Netherlands Brain Bank, Parchi P, Cortelli P, Alessi DR, van de Berg WDJ, Bonifati V, Mandemakers W. Grochowska MM, et al. Among authors: breedveld gj. Acta Neuropathol. 2021 Jul;142(1):117-137. doi: 10.1007/s00401-021-02313-3. Epub 2021 Apr 28. Acta Neuropathol. 2021. PMID: 33913039 Free PMC article.
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
Olgiati S, Quadri M, Fang M, Rood JP, Saute JA, Chien HF, Bouwkamp CG, Graafland J, Minneboo M, Breedveld GJ, Zhang J; International Parkinsonism Genetics Network, Verheijen FW, Boon AJ, Kievit AJ, Jardim LB, Mandemakers W, Barbosa ER, Rieder CR, Leenders KL, Wang J, Bonifati V. Olgiati S, et al. Among authors: breedveld gj. Ann Neurol. 2016 Feb;79(2):244-56. doi: 10.1002/ana.24553. Epub 2016 Jan 14. Ann Neurol. 2016. PMID: 26528954
Mutations in TMEM230 are not a common cause of Parkinson's disease.
Quadri M, Breedveld GJ, Chang HC, Yeh TH, Guedes LC, Toni V, Fabrizio E, De Mari M, Thomas A, Tassorelli C, Rood JP, Saddi V, Chien HF, Kievit AJ, Boon AJ, Stocchi F, Lopiano L, Abbruzzese G, Cortelli P, Meco G, Cossu G, Barbosa ER, Ferreira JJ; International Parkinsonism Genetics Network, Lu CS, Bonifati V. Quadri M, et al. Among authors: breedveld gj. Mov Disord. 2017 Feb;32(2):302-304. doi: 10.1002/mds.26900. Epub 2017 Jan 16. Mov Disord. 2017. PMID: 28090676 No abstract available.
Primary familial brain calcification caused by MYORG mutations in an Italian family.
Taglia I, Kuipers DJS, Breedveld GJ, Mignarri A, Dotti MT, Federico A, Bonifati V. Taglia I, et al. Among authors: breedveld gj. Parkinsonism Relat Disord. 2019 Oct;67:24-26. doi: 10.1016/j.parkreldis.2019.09.021. Epub 2019 Sep 17. Parkinsonism Relat Disord. 2019. PMID: 31621601 No abstract available.
77 results