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Items: 1 to 50 of 68

1.

LRP10 in α-synucleinopathies - Authors' reply.

Quadri M, Mandemakers W, Kuipers D, Breedveld GJ, Bonifati V.

Lancet Neurol. 2018 Dec;17(12):1035-1036. doi: 10.1016/S1474-4422(18)30408-3. Epub 2018 Nov 13. No abstract available.

PMID:
30507388
2.

PTRHD1 Loss-of-function mutation in an african family with juvenile-onset Parkinsonism and intellectual disability.

Kuipers DJS, Carr J, Bardien S, Thomas P, Sebate B, Breedveld GJ, van Minkelen R, Brouwer RWW, van Ijcken WFJ, van Slegtenhorst MA, Bonifati V, Quadri M.

Mov Disord. 2018 Nov;33(11):1814-1819. doi: 10.1002/mds.27501. Epub 2018 Nov 6.

PMID:
30398675
3.

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.

Lancet Neurol. 2018 Jul;17(7):597-608. doi: 10.1016/S1474-4422(18)30179-0. Epub 2018 Jun 7.

PMID:
29887161
4.

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.

Neurol Genet. 2018 Mar 21;4(2):e223. doi: 10.1212/NXG.0000000000000223. eCollection 2018 Apr.

5.

Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.

de Vrij FM, Bouwkamp CG, Gunhanlar N, Shpak G, Lendemeijer B, Baghdadi M, Gopalakrishna S, Ghazvini M, Li TM, Quadri M, Olgiati S, Breedveld GJ, Coesmans M, Mientjes E, de Wit T, Verheijen FW, Beverloo HB, Cohen D, Kok RM, Bakker PR, Nijburg A, Spijker AT, Haffmans PMJ, Hoencamp E, Bergink V; GROUP Study Consortium, Vorstman JA, Wu T, Olde Loohuis LM, Amin N, Langen CD, Hofman A, Hoogendijk WJ, van Duijn CM, Ikram MA, Vernooij MW, Tiemeier H, Uitterlinden AG, Elgersma Y, Distel B, Gribnau J, White T, Bonifati V, Kushner SA.

Mol Psychiatry. 2018 Jan 4. doi: 10.1038/s41380-017-0004-2. [Epub ahead of print]

PMID:
29302076
6.

Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation.

Terlizzi R, Valentino ML, Bartoletti-Stella A, Columbaro M, Piras S, Stanzani-Maserati M, Quadri M, Breedveld GJ, Bonifati V, Martinelli P, Parchi P, Capellari S.

Mov Disord. 2017 Aug;32(8):1259-1260. doi: 10.1002/mds.27049. Epub 2017 May 22. No abstract available.

PMID:
28543767
7.

The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN.

Olgiati S, Doğu O, Tufekcioglu Z, Diler Y, Saka E, Gultekin M, Kaleagasi H, Kuipers D, Graafland J, Breedveld GJ, Quadri M, Sürmeli R, Sünter G, Doğan T, Yalçın AD, Bilgiç B, Elibol B, Emre M, Hanagasi HA, Bonifati V.

Parkinsonism Relat Disord. 2017 Jun;39:64-70. doi: 10.1016/j.parkreldis.2017.03.012. Epub 2017 Mar 21.

PMID:
28347615
8.

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.

Mov Disord. 2017 Feb;32(2):302-304. doi: 10.1002/mds.26900. Epub 2017 Jan 16. No abstract available.

PMID:
28090676
9.

A balanced translocation disrupting BCL2L10 and PNLDC1 segregates with affective psychosis.

Bouwkamp CG, Kievit AJ, Olgiati S, Breedveld GJ, Coesmans M, Bonifati V, Kushner SA.

Am J Med Genet B Neuropsychiatr Genet. 2017 Apr;174(3):214-219. doi: 10.1002/ajmg.b.32465. Epub 2016 Jun 3.

10.

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.

Mov Disord. 2016 Jul;31(7):1041-8. doi: 10.1002/mds.26610. Epub 2016 Apr 19.

PMID:
27090768
11.

PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.

Quadri M, Olgiati S, Sensi M, Gualandi F, Groppo E, Rispoli V, Graafland J, Breedveld GJ, Fabbrini G, Berardelli A, Bonifati V.

Mov Disord. 2016 May;31(5):765-7. doi: 10.1002/mds.26583. Epub 2016 Mar 17. No abstract available.

PMID:
26990861
12.

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.

Ann Neurol. 2016 Feb;79(2):244-56. doi: 10.1002/ana.24553. Epub 2016 Jan 14.

PMID:
26528954
13.

Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family.

Olgiati S, Thomas A, Quadri M, Breedveld GJ, Graafland J, Eussen H, Douben H, de Klein A, Onofrj M, Bonifati V.

Parkinsonism Relat Disord. 2015 Aug;21(8):981-6. doi: 10.1016/j.parkreldis.2015.06.005. Epub 2015 Jun 9.

14.

Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.

Quadri M, Kamate M, Sharma S, Olgiati S, Graafland J, Breedveld GJ, Kori I, Hattiholi V, Jain P, Aneja S, Kumar A, Gulati P, Goel M, Talukdar B, Bonifati V.

Mov Disord. 2015 Jun;30(7):996-1001. doi: 10.1002/mds.26202. Epub 2015 Mar 17.

PMID:
25778823
15.

An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.

Quadri M, Yang X, Cossu G, Olgiati S, Saddi VM, Breedveld GJ, Ouyang L, Hu J, Xu N, Graafland J, Ricchi V, Murgia D, Guedes LC, Mariani C, Marti MJ, Tarantino P, Asselta R, Valldeoriola F, Gagliardi M, Pezzoli G, Ezquerra M, Quattrone A, Ferreira J, Annesi G, Goldwurm S, Tolosa E, Oostra BA, Melis M, Wang J, Bonifati V.

Neurogenetics. 2015 Jan;16(1):55-64. doi: 10.1007/s10048-014-0425-x. Epub 2014 Oct 8.

PMID:
25294124
16.

Primary familial brain calcification: Genetic analysis and clinical spectrum.

Taglia I, Mignarri A, Olgiati S, Menci E, Petrocelli PL, Breedveld GJ, Scaglione C, Martinelli P, Federico A, Bonifati V, Dotti MT.

Mov Disord. 2014 Nov;29(13):1691-5. doi: 10.1002/mds.26053. Epub 2014 Oct 4. Erratum in: Mov Disord. 2015 Jun;30(7):1010.

PMID:
25284758
17.

A new Turkish family with homozygous FBXO7 truncating mutation and juvenile atypical parkinsonism.

Yalcin-Cakmakli G, Olgiati S, Quadri M, Breedveld GJ, Cortelli P, Bonifati V, Elibol B.

Parkinsonism Relat Disord. 2014 Nov;20(11):1248-52. doi: 10.1016/j.parkreldis.2014.06.024. Epub 2014 Jul 22.

PMID:
25085748
18.

PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family.

Olgiati S, De Rosa A, Quadri M, Criscuolo C, Breedveld GJ, Picillo M, Pappatà S, Quarantelli M, Barone P, De Michele G, Bonifati V.

Neurogenetics. 2014 Aug;15(3):183-8. doi: 10.1007/s10048-014-0406-0. Epub 2014 May 10.

PMID:
24816432
19.

PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.

Wong TH, Chiu WZ, Breedveld GJ, Li KW, Verkerk AJ, Hondius D, Hukema RK, Seelaar H, Frick P, Severijnen LA, Lammers GJ, Lebbink JH, van Duinen SG, Kamphorst W, Rozemuller AJ; Netherlands Brain Bank, Bakker EB; International Parkinsonism Genetics Network, Neumann M, Willemsen R, Bonifati V, Smit AB, van Swieten J.

Brain. 2014 May;137(Pt 5):1361-73. doi: 10.1093/brain/awu067. Epub 2014 Apr 9. Erratum in: Brain. 2015 Feb;138(Pt 2):e331.

PMID:
24722252
20.

Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.

Verhoeven WM, Egger JI, Koolen DA, Yntema H, Olgiati S, Breedveld GJ, Bonifati V, van de Warrenburg BP.

Parkinsonism Relat Disord. 2014 Mar;20(3):332-6. doi: 10.1016/j.parkreldis.2013.11.019. Epub 2013 Dec 10.

PMID:
24368176
21.

Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism.

Quadri M, Fang M, Picillo M, Olgiati S, Breedveld GJ, Graafland J, Wu B, Xu F, Erro R, Amboni M, Pappatà S, Quarantelli M, Annesi G, Quattrone A, Chien HF, Barbosa ER; International Parkinsonism Genetics Network, Oostra BA, Barone P, Wang J, Bonifati V.

Hum Mutat. 2013 Sep;34(9):1208-15. doi: 10.1002/humu.22373. Epub 2013 Aug 6.

PMID:
23804577
22.

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ.

Hum Mutat. 2013 May;34(5):706-13. doi: 10.1002/humu.22292. Epub 2013 Mar 11.

PMID:
23418007
23.

Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease.

Yonova-Doing E, Atadzhanov M, Quadri M, Kelly P, Shawa N, Musonda ST, Simons EJ, Breedveld GJ, Oostra BA, Bonifati V.

Parkinsonism Relat Disord. 2012 Jun;18(5):567-71. doi: 10.1016/j.parkreldis.2012.02.018. Epub 2012 Mar 24.

PMID:
22445250
24.

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.

Quadri M, Federico A, Zhao T, Breedveld GJ, Battisti C, Delnooz C, Severijnen LA, Di Toro Mammarella L, Mignarri A, Monti L, Sanna A, Lu P, Punzo F, Cossu G, Willemsen R, Rasi F, Oostra BA, van de Warrenburg BP, Bonifati V.

Am J Hum Genet. 2012 Mar 9;90(3):467-77. doi: 10.1016/j.ajhg.2012.01.017. Epub 2012 Feb 16.

25.

The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.

Criscuolo C, De Rosa A, Guacci A, Simons EJ, Breedveld GJ, Peluso S, Volpe G, Filla A, Oostra BA, Bonifati V, De Michele G.

Mov Disord. 2011 Aug 1;26(9):1733-6. doi: 10.1002/mds.23735. Epub 2011 Apr 29.

PMID:
21538529
26.

Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15).

Zhao T, De Graaff E, Breedveld GJ, Loda A, Severijnen LA, Wouters CH, Verheijen FW, Dekker MC, Montagna P, Willemsen R, Oostra BA, Bonifati V.

PLoS One. 2011 Feb 11;6(2):e16983. doi: 10.1371/journal.pone.0016983.

27.

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.

Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappatà S, Di Fonzo A, Oostra BA, Bonifati V.

Neurogenetics. 2011 Feb;12(1):33-9. doi: 10.1007/s10048-010-0259-0. Epub 2010 Sep 21.

28.

Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred.

Breedveld GJ, Fabbrini G, Oostra BA, Berardelli A, Bonifati V.

Neurogenetics. 2010 Oct;11(4):417-23. doi: 10.1007/s10048-010-0244-7. Epub 2010 May 2.

29.

GIGYF2 mutations are not a frequent cause of familial Parkinson's disease.

Di Fonzo A, Fabrizio E, Thomas A, Fincati E, Marconi R, Tinazzi M, Breedveld GJ, Simons EJ, Chien HF, Ferreira JJ, Horstink MW, Abbruzzese G, Borroni B, Cossu G, Dalla Libera A, Fabbrini G, Guidi M, De Mari M, Lopiano L, Martignoni E, Marini P, Onofrj M, Padovani A, Stocchi F, Toni V, Sampaio C, Barbosa ER, Meco G; Italian Parkinson Genetics Network, Oostra BA, Bonifati V.

Parkinsonism Relat Disord. 2009 Nov;15(9):703-5. doi: 10.1016/j.parkreldis.2009.05.001. Epub 2009 May 31.

PMID:
19482505
30.

FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome.

Di Fonzo A, Dekker MC, Montagna P, Baruzzi A, Yonova EH, Correia Guedes L, Szczerbinska A, Zhao T, Dubbel-Hulsman LO, Wouters CH, de Graaff E, Oyen WJ, Simons EJ, Breedveld GJ, Oostra BA, Horstink MW, Bonifati V.

Neurology. 2009 Jan 20;72(3):240-5. doi: 10.1212/01.wnl.0000338144.10967.2b. Epub 2008 Nov 26.

PMID:
19038853
31.

The LRRK2 Arg1628Pro variant is a risk factor for Parkinson's disease in the Chinese population.

Lu CS, Wu-Chou YH, van Doeselaar M, Simons EJ, Chang HC, Breedveld GJ, Di Fonzo A, Chen RS, Weng YH, Lai SC, Oostra BA, Bonifati V.

Neurogenetics. 2008 Oct;9(4):271-6. doi: 10.1007/s10048-008-0140-6. Epub 2008 Aug 21.

PMID:
18716801
32.

Distinct genetic forms of frontotemporal dementia.

Seelaar H, Kamphorst W, Rosso SM, Azmani A, Masdjedi R, de Koning I, Maat-Kievit JA, Anar B, Donker Kaat L, Breedveld GJ, Dooijes D, Rozemuller JM, Bronner IF, Rizzu P, van Swieten JC.

Neurology. 2008 Oct 14;71(16):1220-6. doi: 10.1212/01.wnl.0000319702.37497.72. Epub 2008 Aug 13.

PMID:
18703462
33.

Benign hereditary chorea: clinical, neuroimaging, and genetic findings.

Mahajnah M, Inbar D, Steinmetz A, Heutink P, Breedveld GJ, Straussberg R.

J Child Neurol. 2007 Oct;22(10):1231-4.

PMID:
17940252
34.

Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis.

Grünewald A, Breedveld GJ, Lohmann-Hedrich K, Rohé CF, König IR, Hagenah J, Vanacore N, Meco G, Antonini A, Goldwurm S, Lesage S, Dürr A, Binkofski F, Siebner H, Münchau A, Brice A, Oostra BA, Klein C, Bonifati V.

Neurogenetics. 2007 Apr;8(2):103-9. Epub 2007 Jan 12.

PMID:
17219214
35.

A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan.

Di Fonzo A, Wu-Chou YH, Lu CS, van Doeselaar M, Simons EJ, Rohé CF, Chang HC, Chen RS, Weng YH, Vanacore N, Breedveld GJ, Oostra BA, Bonifati V.

Neurogenetics. 2006 Jul;7(3):133-8. Epub 2006 Apr 22.

PMID:
16633828
36.

Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.

Di Fonzo A, Tassorelli C, De Mari M, Chien HF, Ferreira J, Rohé CF, Riboldazzi G, Antonini A, Albani G, Mauro A, Marconi R, Abbruzzese G, Lopiano L, Fincati E, Guidi M, Marini P, Stocchi F, Onofrj M, Toni V, Tinazzi M, Fabbrini G, Lamberti P, Vanacore N, Meco G, Leitner P, Uitti RJ, Wszolek ZK, Gasser T, Simons EJ, Breedveld GJ, Goldwurm S, Pezzoli G, Sampaio C, Barbosa E, Martignoni E, Oostra BA, Bonifati V; Italian Parkinson's Genetics Network.

Eur J Hum Genet. 2006 Mar;14(3):322-31.

37.

Early-onset Parkinson's disease caused by a novel parkin mutation in a genetic isolate from north-eastern Brazil.

Chien HF, Rohé CF, Costa MD, Breedveld GJ, Oostra BA, Barbosa ER, Bonifati V.

Neurogenetics. 2006 Mar;7(1):13-9. Epub 2005 Nov 22.

PMID:
16328510
38.

The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor.

Goldwurm S, Di Fonzo A, Simons EJ, Rohé CF, Zini M, Canesi M, Tesei S, Zecchinelli A, Antonini A, Mariani C, Meucci N, Sacilotto G, Sironi F, Salani G, Ferreira J, Chien HF, Fabrizio E, Vanacore N, Dalla Libera A, Stocchi F, Diroma C, Lamberti P, Sampaio C, Meco G, Barbosa E, Bertoli-Avella AM, Breedveld GJ, Oostra BA, Pezzoli G, Bonifati V.

J Med Genet. 2005 Nov;42(11):e65.

39.

The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease.

Lu CS, Simons EJ, Wu-Chou YH, Fonzo AD, Chang HC, Chen RS, Weng YH, Rohé CF, Breedveld GJ, Hattori N, Gasser T, Oostra BA, Bonifati V.

Parkinsonism Relat Disord. 2005 Dec;11(8):521-2. Epub 2005 Oct 26. No abstract available.

PMID:
16256409
40.

Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes.

Bonifati V, Rohé CF, Breedveld GJ, Fabrizio E, De Mari M, Tassorelli C, Tavella A, Marconi R, Nicholl DJ, Chien HF, Fincati E, Abbruzzese G, Marini P, De Gaetano A, Horstink MW, Maat-Kievit JA, Sampaio C, Antonini A, Stocchi F, Montagna P, Toni V, Guidi M, Dalla Libera A, Tinazzi M, De Pandis F, Fabbrini G, Goldwurm S, de Klein A, Barbosa E, Lopiano L, Martignoni E, Lamberti P, Vanacore N, Meco G, Oostra BA; Italian Parkinson Genetics Network.

Neurology. 2005 Jul 12;65(1):87-95.

PMID:
16009891
41.

Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW.

Science. 2005 May 20;308(5725):1167-71.

42.

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM.

Am J Hum Genet. 2005 Jul;77(1):120-6. Epub 2005 May 9.

43.

A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15.

Breedveld GJ, van Wetten B, te Raa GD, Brusse E, van Swieten JC, Oostra BA, Maat-Kievit JA.

J Med Genet. 2004 Nov;41(11):858-66. No abstract available.

44.

Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.

Willemsen MA, Breedveld GJ, Wouda S, Otten BJ, Yntema JL, Lammens M, de Vries BB.

Eur J Pediatr. 2005 Jan;164(1):28-30. Epub 2004 Oct 23.

PMID:
15517377
45.

Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly.

Aguglia U, Gambardella A, Breedveld GJ, Oliveri RL, Le Piane E, Messina D, Quattrone A, Heutink P.

Neurology. 2004 May 11;62(9):1613-5.

PMID:
15136694
46.

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.

Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P.

Science. 2003 Jan 10;299(5604):256-9. Epub 2002 Nov 21.

47.

Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23.

de Vries BB, Breedveld GJ, Deelen WH, Breuning MH, Niermeijer MF, Heutink P.

Am J Med Genet. 2002 Sep 1;111(4):443-5. No abstract available. Erratum in: Am J Med Genet. 2002 Dec 15;113(4):391.

PMID:
12210308
48.

Clinical and genetic heterogeneity in benign hereditary chorea.

Breedveld GJ, Percy AK, MacDonald ME, de Vries BB, Yapijakis C, Dure LS, Ippel EF, Sandkuijl LA, Heutink P, Arts WF.

Neurology. 2002 Aug 27;59(4):579-84.

PMID:
12196653
49.

Characterization of ZNF333, a novel double KRAB domain containing zinc finger gene on human chromosome 19p13.1.

Tian Y, Breedveld GJ, Huang S, Oostra BA, Heutink P, Lo WH.

Biochim Biophys Acta. 2002 Aug 19;1577(1):121-5.

PMID:
12151103
50.

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.

Lettice LA, Horikoshi T, Heaney SJ, van Baren MJ, van der Linde HC, Breedveld GJ, Joosse M, Akarsu N, Oostra BA, Endo N, Shibata M, Suzuki M, Takahashi E, Shinka T, Nakahori Y, Ayusawa D, Nakabayashi K, Scherer SW, Heutink P, Hill RE, Noji S.

Proc Natl Acad Sci U S A. 2002 May 28;99(11):7548-53.

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