Guido J. Breedveld

Overview

Best Publications

• Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism

  Vincenzo Bonifati;Vincenzo Bonifati;Patrizia Rizzu;Marijke J. van Baren;Onno Schaap

  3362
  Citations

• A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.

  Alessio Di Fonzo;Alessio Di Fonzo;Christan F Rohé;Joaquim Ferreira;Hsin F Chien

  663
  Citations

• Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

  Douglas B. Gould;F. Campbell Phalan;Guido J. Breedveld;Saskia E. van Mil

  614
  Citations

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

  Laura A. Lettice;Taizo Horikoshi;Simon J. H. Heaney;Marijke J. van Baren

  554
  Citations

• PARK7, a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, on Chromosome 1p36

  C.M. van Duijn;M.C.J. Dekker;V. Bonifati;R.J. Galjaard

  512
  Citations

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

  A. Di Fonzo;M.C.J. Dekker;P. Montagna;A. Baruzzi

  440
  Citations

• Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease

  Marialuisa Quadri;Antonio Federico;Tianna Zhao;Guido J. Breedveld

  435
  Citations

• Early-onset parkinsonism associated with PINK1 mutations Frequency, genotypes, and phenotypes

  V. Bonifati;C. F. Rohé;G. J. Breedveld;E. Fabrizio

  412
  Citations

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

  Marialuisa Quadri;Mingyan Fang;Marina Picillo;Simone Olgiati

  346
  Citations

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

  Alessio Di Fonzo;Yah Huei Wu-Chou;Chin Song Lu;Marina Van Doeselaar

  284
  Citations

• Distinct genetic forms of frontotemporal dementia.

  H. Seelaar;W. Kamphorst;S. M. Rosso;A. Azmani

  257
  Citations

• A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter

  Heutink P;van der Mey Ag;Sandkuijl La;van Gils Ap

  255
  Citations

• Mutations in TITF-1 are associated with benign hereditary chorea

  Guido J. Breedveld;Jeroen W.F. van Dongen;Cesare Danesino;Andrea Guala

  227
  Citations

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

  S Goldwurm;A Di Fonzo;E J Simons;C F Rohé

  225
  Citations

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

  Alessio Di Fonzo;Alessio Di Fonzo;Cristina Tassorelli;Michele De Mari;Hsin F Chien

  220
  Citations

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

  Alice S. Brooks;Aida M. Bertoli-Avella;Grzegorz M. Burzynski;Guido J. Breedveld

  209
  Citations

• Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly

  G Breedveld;I F de Coo;M H Lequin;W F M Arts

  188
  Citations

• DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease

  Simone Olgiati;Marialuisa Quadri;Mingyan Fang;Janneke P.M.A. Rood

  178
  Citations

• Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism

  Christan F. Rohé;Pasquale Montagna;Guido Breedveld;Pietro Cortelli

  174
  Citations

• 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.

  Michel A. A. P. Willemsen;Guido J. Breedveld;Siep Wouda;Barto J. Otten

  126
  Citations