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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. Ann Neurol. 2016 Feb;79(2):244-56. doi: 10.1002/ana.24553. Epub 2016 Jan 14. Ann Neurol. 2016. PMID: 26528954
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.
Olgiati S, Skorvanek M, Quadri M, Minneboo M, Graafland J, Breedveld GJ, Bonte R, Ozgur Z, van den Hout MC, Schoonderwoerd K, Verheijen FW, van IJcken WF, Chien HF, Barbosa ER, Chang HC, Lai SC, Yeh TH, Lu CS, Wu-Chou YH, Kievit AJ, Han V, Gdovinova Z, Jech R, Hofstra RM, Ruijter GJ, Mandemakers W, Bonifati V. Olgiati S, et al. Mov Disord. 2016 Jul;31(7):1041-8. doi: 10.1002/mds.26610. Epub 2016 Apr 19. Mov Disord. 2016. PMID: 27090768
New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients.
Vroegindeweij LHP, Langendonk JG, Langeveld M, Hoogendoorn M, Kievit AJA, Di Raimondo D, Wilson JHP, Boon AJW. Vroegindeweij LHP, et al. Among authors: kievit aja. Parkinsonism Relat Disord. 2017 Mar;36:33-40. doi: 10.1016/j.parkreldis.2016.12.010. Epub 2016 Dec 15. Parkinsonism Relat Disord. 2017. PMID: 28012953
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. 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.
Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry.
Bouwkamp CG, Kievit AJA, Markx S, Friedman JI, van Zutven L, van Minkelen R, Vrijenhoek T, Xu B, Sterrenburg-van de Nieuwegiessen I, Veltman JA, Bonifati V, Kushner SA. Bouwkamp CG, et al. Among authors: kievit aja. Am J Psychiatry. 2017 Nov 1;174(11):1036-1050. doi: 10.1176/appi.ajp.2017.16080946. Am J Psychiatry. 2017. PMID: 29088930 No abstract available.
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study.
Quadri M, Mandemakers W, Grochowska MM, Masius R, Geut H, Fabrizio E, Breedveld GJ, Kuipers D, Minneboo M, Vergouw LJM, Carreras Mascaro A, Yonova-Doing E, Simons E, Zhao T, Di Fonzo AB, Chang HC, Parchi P, Melis M, Correia Guedes L, Criscuolo C, Thomas A, Brouwer RWW, Heijsman D, Ingrassia AMT, Calandra Buonaura G, Rood JP, Capellari S, Rozemuller AJ, Sarchioto M, Fen Chien H, Vanacore N, Olgiati S, Wu-Chou YH, Yeh TH, Boon AJW, Hoogers SE, Ghazvini M, IJpma AS, van IJcken WFJ, Onofrj M, Barone P, Nicholl DJ, Puschmann A, De Mari M, Kievit AJ, Barbosa E, De Michele G, Majoor-Krakauer D, van Swieten JC, de Jong FJ, Ferreira JJ, Cossu G, Lu CS, Meco G, Cortelli P, van de Berg WDJ, Bonifati V; International Parkinsonism Genetics Network. Quadri M, et al. Lancet Neurol. 2018 Jul;17(7):597-608. doi: 10.1016/S1474-4422(18)30179-0. Epub 2018 Jun 7. Lancet Neurol. 2018. PMID: 29887161
How Do I Assess a Family Tree for Inheritance Patterns?
Kievit A, Bonifati V. Kievit A, et al. Mov Disord Clin Pract. 2018 Aug 3;5(4):453. doi: 10.1002/mdc3.12661. eCollection 2018 Jul-Aug. Mov Disord Clin Pract. 2018. PMID: 30838305 Free PMC article.
Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease.
den Heijer JM, van Hilten JJ, Kievit AJA, Bonifati V, Groeneveld GJ. den Heijer JM, et al. Among authors: kievit aja. Mov Disord Clin Pract. 2020 Oct 27;8(1):33-36. doi: 10.1002/mdc3.13098. eCollection 2021 Jan. Mov Disord Clin Pract. 2020. PMID: 33426156 Free PMC article. No abstract available.
37 results