All Stories

  1. Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease

    Article • PLoS Genetics, June 2019, PLOS

    Professor Carles Vilarino-Guell

  2. Analysis of Canadian multiple sclerosis patients does not support a role for FKBP6 in disease

    Article • Multiple Sclerosis Journal, October 2018, SAGE Publications

    Professor Carles Vilarino-Guell

  3. Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis

    Article • Human Mutation, April 2017, Wiley

    Professor Carles Vilarino-Guell

  4. Defining neurodegeneration on Guam by targeted genomic sequencing

    Article • Annals of Neurology, February 2015, Wiley

    Professor Carles Vilarino-Guell

  5. DNAJC13genetic variants in parkinsonism

    Article • Movement Disorders, November 2014, Wiley

    Professor Carles Vilarino-Guell, A Jon Stoessl

  6. Analysis of Nuclear Export Sequence Regions of FUS-Related RNA-Binding Proteins in Essential Tremor

    Article • PLoS ONE, November 2014, PLOS

    Professor Carles Vilarino-Guell

  7. The role ofSNCAandMAPTin Parkinson disease andLRRK2parkinsonism in the Tunisian Arab-Berber population

    Article • European Journal of Neurology, October 2014, Wiley

    Professor Carles Vilarino-Guell

  8. Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism

    Article • Movement Disorders, September 2014, Wiley

    Professor Carles Vilarino-Guell, A Jon Stoessl

  9. VPS35 and DNAJC13 disease-causing variants in essential tremor

    Article • European Journal of Human Genetics, August 2014, Springer Science + Business Media

    Professor Carles Vilarino-Guell

  10. EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population

    Article • Parkinsonism & Related Disorders, June 2014, Elsevier

    Professor Carles Vilarino-Guell

  11. A comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism

    Article • Neurobiology of Aging, May 2014, Elsevier

    Professor Carles Vilarino-Guell

  12. Genetic variants in IL2RA and IL7R affect multiple sclerosis disease risk and progression

    Article • Neurogenetics, April 2014, Springer Science + Business Media

    Professor Carles Vilarino-Guell

  13. SLC1A2 rs3794087 does not associate with essential tremor

    Article • Neurobiology of Aging, April 2014, Elsevier

    Professor Carles Vilarino-Guell

  14. A NovelDCTN1mutation with late-onset parkinsonism and frontotemporal atrophy

    Article • Movement Disorders, February 2014, Wiley

    Professor Carles Vilarino-Guell

  15. Analysis of CYP27B1 in multiple sclerosis

    Article • Journal of Neuroimmunology, January 2014, Elsevier

    Professor Carles Vilarino-Guell

  16. The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants

    Article • Neurobiology of Aging, January 2014, Elsevier

    Professor Carles Vilarino-Guell

  17. Progressive multiple sclerosis does not associate with rs996343 and rs2046748

    Article • Multiple Sclerosis Journal, December 2013, SAGE Publications

    Professor Carles Vilarino-Guell

  18. DNAJC13 mutations in Parkinson disease

    Article • Human Molecular Genetics, November 2013, Oxford University Press (OUP)

    Professor Carles Vilarino-Guell, A Jon Stoessl

  19. Population-specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO-PD) consortium

    Article • Movement Disorders, August 2013, Wiley

    Professor Carles Vilarino-Guell

  20. Colony stimulation factor 1 receptor (CSF1R) is not a common cause of multiple sclerosis

    Article • European Journal of Neurology, July 2013, Wiley

    Professor Carles Vilarino-Guell

  21. Identification of FUS p.R377W in essential tremor

    Article • European Journal of Neurology, July 2013, Wiley

    Professor Carles Vilarino-Guell

  22. STX6 rs1411478 is not associated with increased risk of Parkinson's disease

    Article • Parkinsonism & Related Disorders, May 2013, Elsevier

    Professor Carles Vilarino-Guell

  23. Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease

    Article • Movement Disorders, March 2013, Wiley

    Professor Carles Vilarino-Guell, A Jon Stoessl

  24. Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia

    Article • Acta Neuropathologica, November 2012, Springer Science + Business Media

    Professor Carles Vilarino-Guell

  25. A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

    Article • Journal of Medical Genetics, November 2012, BMJ

    Professor Carles Vilarino-Guell

  26. Large-scale replication and heterogeneity in Parkinson disease genetic loci

    Article • Neurology, July 2012, Wolters Kluwer Health

    Professor Carles Vilarino-Guell

  27. First neuropathological description of a patient with Parkinson’s disease and LRRK2 p.N1437H mutation

    Article • Parkinsonism & Related Disorders, May 2012, Elsevier

    Professor Carles Vilarino-Guell

  28. An evaluation of the impact ofMAPT,SNCAandAPOEon the burden of Alzheimer's and Lewy body pathology

    Article • Journal of Neurology Neurosurgery & Psychiatry, January 2012, BMJ

    Professor Carles Vilarino-Guell

  29. LRRK2 expression in idiopathic and G2019S positive Parkinson's disease subjects: a morphological and quantitative study

    Article • Neuropathology and Applied Neurobiology, October 2011, Wiley

    Professor Carles Vilarino-Guell

  30. Genetic variants of α-synuclein are not associated with essential tremor

    Article • Movement Disorders, October 2011, Wiley

    Professor Carles Vilarino-Guell

  31. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study

    Article • The Lancet Neurology, October 2011, Elsevier

    Professor Carles Vilarino-Guell

  32. Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease

    Article • The American Journal of Human Genetics, September 2011, Elsevier

    Professor Carles Vilarino-Guell, Professor Michael Hutchinson

  33. Lrrk2 p.Q1111H substitution and Parkinson’s disease in Latin America

    Article • Parkinsonism & Related Disorders, September 2011, Elsevier

    Professor Carles Vilarino-Guell, Juan Segura-Aguilar

  34. VPS35 Mutations in Parkinson Disease

    Article • The American Journal of Human Genetics, August 2011, Elsevier

    Professor Carles Vilarino-Guell

  35. Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

    Article • PLoS Genetics, July 2011, PLOS

    Professor Carles Vilarino-Guell

  36. VPS35 Mutations in Parkinson Disease

    Article • The American Journal of Human Genetics, July 2011, Elsevier

    Professor Carles Vilarino-Guell

  37. A family with parkinsonism, essential tremor, restless legs syndrome, and depression

    Article • Neurology, May 2011, Wolters Kluwer Health

    Professor Carles Vilarino-Guell, A Jon Stoessl

  38. Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

    Article • Annals of Neurology, March 2011, Wiley

    Professor Carles Vilarino-Guell

  39. MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy

    Article • Neurology, February 2011, Wolters Kluwer Health

    Professor Carles Vilarino-Guell

  40. Glucocerebrosidase mutations in diffuse Lewy body disease

    Article • Parkinsonism & Related Disorders, January 2011, Elsevier

    Professor Carles Vilarino-Guell

  41. SNCA,MAPT, andGSK3Bin Parkinson disease: a gene-gene interaction study

    Article • European Journal of Neurology, December 2010, Wiley

    Professor Carles Vilarino-Guell

  42. An independent replication of PARK16 in Asian samples

    Article • Neurology, December 2010, Wolters Kluwer Health

    Professor Carles Vilarino-Guell

  43. Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease

    Article • Neuroscience Letters, December 2010, Elsevier

    Professor Carles Vilarino-Guell

  44. Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson’s disease

    Article • Parkinsonism & Related Disorders, December 2010, Elsevier

    Professor Carles Vilarino-Guell

  45. Death-associated protein kinase 1 variation and Parkinson’s disease

    Article • European Journal of Neurology, November 2010, Wiley

    Professor Carles Vilarino-Guell

  46. Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa

    Article • Movement Disorders, August 2010, Wiley

    Professor Carles Vilarino-Guell

  47. Association of α-, β-, and γ-Synuclein With Diffuse Lewy Body Disease

    Article • Archives of Neurology, August 2010, American Medical Association (AMA)

    Professor Carles Vilarino-Guell

  48. LRRK2 variation and Parkinson's disease in African Americans

    Article • Movement Disorders, July 2010, Wiley

    Professor Carles Vilarino-Guell

  49. Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease

    Article • Movement Disorders, July 2010, Wiley

    Professor Carles Vilarino-Guell

  50. Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa

    Article • Neuroscience Letters, June 2010, Elsevier

    Professor Carles Vilarino-Guell

  51. LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease

    Article • Neurogenetics, April 2010, Springer Science + Business Media

    Professor Carles Vilarino-Guell

  52. Reply to: SNCA variants are associated with increased risk of multiple system atrophy

    Article • Annals of Neurology, March 2010, Wiley

    Professor Carles Vilarino-Guell

  53. Association of pyridoxal kinase and Parkinson disease

    Article • Annals of Neurology, March 2010, Wiley

    Professor Carles Vilarino-Guell

  54. Heterodimerization of Lrrk1–Lrrk2: Implications for LRRK2-associated Parkinson disease

    Article • Mechanisms of Ageing and Development, March 2010, Elsevier

    Professor Carles Vilarino-Guell

  55. Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor

    Article • Parkinsonism & Related Disorders, February 2010, Elsevier

    Professor Carles Vilarino-Guell

  56. LINGO1 rs9652490 is associated with essential tremor and Parkinson disease

    Article • Parkinsonism & Related Disorders, February 2010, Elsevier

    Professor Carles Vilarino-Guell

  57. Association of theMAPTlocus with Parkinson’s disease

    Article • European Journal of Neurology, November 2009, Wiley

    Professor Carles Vilarino-Guell

  58. A Swedish family with de novo α-synuclein A53T mutation: Evidence for early cortical dysfunction

    Article • Parkinsonism & Related Disorders, November 2009, Elsevier

    Professor Carles Vilarino-Guell

  59. A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease

    Article • Journal of Neurology Neurosurgery & Psychiatry, September 2009, BMJ

    Professor Carles Vilarino-Guell

  60. DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease

    Article • Neuroscience Letters, September 2009, Elsevier

    Professor Carles Vilarino-Guell

  61. Calbindin-1association and Parkinson’s disease

    Article • European Journal of Neurology, August 2009, Wiley

    Professor Carles Vilarino-Guell

  62. MEIS1 p.R272H IN FAMILIAL RESTLESS LEGS SYNDROME

    Article • Neurology, July 2009, Wolters Kluwer Health

    Professor Carles Vilarino-Guell

  63. Reply: GIGYF2 variants are not associated with Parkinson's disease in Italy

    Article • Movement Disorders, June 2009, Wiley

    Professor Carles Vilarino-Guell

  64. Characterization of DCTN1 genetic variability in neurodegeneration

    Article • Neurology, June 2009, Wolters Kluwer Health

    Professor Carles Vilarino-Guell

  65. Reported mutations inGIGYF2are not a common cause of Parkinson's disease

    Article • Movement Disorders, March 2009, Wiley

    Professor Carles Vilarino-Guell

  66. Clinical and Genetic Description of a Family With a High Prevalence of Autosomal Dominant Restless Legs Syndrome

    Article • Mayo Clinic Proceedings, February 2009, Elsevier

    Professor Carles Vilarino-Guell

  67. DCTN1 mutations in Perry syndrome

    Article • Nature Genetics, January 2009, Springer Science + Business Media

    Professor Carles Vilarino-Guell, A Jon Stoessl

  68. Genetic variation of Omi/HtrA2 and Parkinson's disease

    Article • Parkinsonism & Related Disorders, November 2008, Elsevier

    Professor Carles Vilarino-Guell

  69. Dopamine β-hydroxylase −1021C>T association and Parkinson's disease

    Article • Parkinsonism & Related Disorders, November 2008, Elsevier

    Professor Carles Vilarino-Guell

  70. Fine mapping of the MHC Class III region demonstrates association of AIF1 and rheumatoid arthritis

    Article • Rheumatology, October 2008, Oxford University Press (OUP)

    Professor Carles Vilarino-Guell

  71. Clinical characteristics of Parkinson’s disease among Jewish Ethnic groups in Israel

    Article • Journal of Neural Transmission, July 2008, Springer Science + Business Media

    Professor Carles Vilarino-Guell

  72. Susceptibility genes for restless legs syndrome are not associated with Parkinson disease

    Article • Neurology, July 2008, Wolters Kluwer Health

    Professor Carles Vilarino-Guell

  73. PTHR1 Polymorphisms Influence BMD Variation through Effects on the Growing Skeleton

    Article • Calcified Tissue International, September 2007, Springer Science + Business Media

    Professor Carles Vilarino-Guell

  74. Effect of an Estrogen Receptor-α Intron 4 Polymorphism on Fat Mass in 11-Year-Old Children

    Article • The Journal of Clinical Endocrinology & Metabolism, June 2007, Endocrine Society

    Professor Carles Vilarino-Guell

  75. The Effect of LRP5 Polymorphisms on Bone Mineral Density Is Apparent in Childhood

    Article • Calcified Tissue International, May 2007, Springer Science + Business Media

    Professor Carles Vilarino-Guell

  76. Estrogen Receptor α Regulates Area-Adjusted Bone Mineral Content in Late Pubertal Girls

    Article • The Journal of Clinical Endocrinology & Metabolism, February 2007, Endocrine Society

    Professor Carles Vilarino-Guell

  77. 2.116 Genetic characterization of ATP13A2 in Parkinson's disease

    Article • Parkinsonism & Related Disorders, January 2007, Elsevier

    Professor Carles Vilarino-Guell

  78. Bigger is better, but it's not just size that counts: The estrogen receptor gene and osteoporosis

    Article • BoneKEy-Osteovision, February 2005, Portico

    Professor Carles Vilarino-Guell

  79. Germline mutation induction at mouse repeat DNA loci by chemical mutagens

    Article • Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, May 2003, Elsevier

    Professor Carles Vilarino-Guell

  80. A Physical and Transcript Map Based upon Refinement of the Critical Interval for PPH1, a Gene for Familial Primary Pulmonary Hypertension

    Article • Genomics, September 2000, Elsevier

    Professor Carles Vilarino-Guell