Coro Paisan-Ruiz

Coro Paisan-Ruiz

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Coro Paisan-Ruiz

Coro Paisan-Ruiz

Publications by authors named "Coro Paisan-Ruiz"

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Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism.

Mov Disord 2018 12 19;33(12):1968-1970. Epub 2018 Nov 19.

Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L, New York, New York, USA.

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http://dx.doi.org/10.1002/mds.27516DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309582PMC
December 2018

Molecular characterization of PRKN structural variations identified through whole-genome sequencing.

Mol Genet Genomic Med 2018 11 16;6(6):1243-1248. Epub 2018 Oct 16.

Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, New York.

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http://doi.wiley.com/10.1002/mgg3.482
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http://dx.doi.org/10.1002/mgg3.482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305656PMC
November 2018

Pla2g6 Deficiency in Zebrafish Leads to Dopaminergic Cell Death, Axonal Degeneration, Increased β-Synuclein Expression, and Defects in Brain Functions and Pathways.

Mol Neurobiol 2018 Aug 17;55(8):6734-6754. Epub 2018 Jan 17.

Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.

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http://dx.doi.org/10.1007/s12035-017-0846-2DOI Listing
August 2018

A Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic Parkinson's Disease.

J Parkinsons Dis 2017 ;7(3):459-463

Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, USA.

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http://dx.doi.org/10.3233/JPD-171146DOI Listing
April 2018

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

Neurobiol Aging 2018 02 23;62:244.e15-244.e17. Epub 2017 Oct 23.

Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5743634PMC
February 2018

Whole-exome sequencing associates novel gene mutations with familial Parkinson disease.

Neurol Genet 2017 Oct 2;3(5):e177. Epub 2017 Aug 2.

Department of Neurology (J.R.-M., A.B., J.F.M.-M.), University Hospital Donostia, San Sebastián, Spain; Neurosciences Area, Biodonostia Research Institute (J.R.-M., A.B., J.F.M.-M.), San Sebastián, Spain; Center for Biomedical Research in Neurodegenerative Diseases Network (CIBERNED) (J.R.-M., A.B., J.F.M.-M.), Madrid, Spain; Department of Neuroscience (L.J.A.), Departments of Neurology, Psychiatry, and Genetics and Genomic Sciences (C.P.-R.), Friedman Brain and Mindich Child Health and Development Institutes (C.P.-R.), Icahn School of Medicine at Mount Sinai, New York, NY; and Department of Neuroscience (J.F.M.-M.), University of the Basque Country-UPV-EHU, San Sebastián, Spain.

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http://dx.doi.org/10.1212/NXG.0000000000000177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540655PMC
October 2017

Whole genome sequencing identifies a novel homozygous exon deletion in the gene in a family with intellectual disability and spastic paraplegia.

NPJ Genom Med 2017 1;2. Epub 2017 Jun 1.

Departments of Neurology, Psychiatry, and Genetics and Genomic sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY 10029, USA.

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http://dx.doi.org/10.1038/s41525-017-0022-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5675118PMC
June 2017

Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.

Hum Mutat 2016 11 21;37(11):1180-1189. Epub 2016 Aug 21.

Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York City, New York.

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http://dx.doi.org/10.1002/humu.23055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5375037PMC
November 2016

SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor.

ASN Neuro 2015 Jul-Aug;7(4). Epub 2015 Aug 21.

Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA Departments of Psychiatry and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA Friedman Brain and Mindich Child Health and Development Institutes, Icahn School of Medicine at Mount Sinai, New York, NY, USA

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http://journals.sagepub.com/doi/10.1177/1759091415598290
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http://dx.doi.org/10.1177/1759091415598290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550298PMC
March 2016

SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.

Hum Mol Genet 2015 Dec 1;24(24):7111-20. Epub 2015 Oct 1.

Department of Neurology, Department of Psychiatry, Department of Genetics and Genomic Sciences, Friedman Brain Institute, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY 10029, USA and

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http://dx.doi.org/10.1093/hmg/ddv410DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654061PMC
December 2015

GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment.

J Hum Genet 2015 Oct 2;60(10):637-40. Epub 2015 Jul 2.

Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, USA.

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http://dx.doi.org/10.1038/jhg.2015.69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4624020PMC
October 2015

PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review.

Tremor Other Hyperkinet Mov (N Y) 2015 10;5:317. Epub 2015 Jul 10.

Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA ; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA ; The Friedman Brain and The Mindich Child Health and Development Institutes, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.7916/D84Q7T4WDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4503963PMC
July 2015

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

Muscle Nerve 2014 Sep 5;50(3):448-53. Epub 2014 Aug 5.

Neurosciences Area, Biodonostia Institute, Hospital Universitario Donostia, 20014, San Sebastián, Spain.

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http://dx.doi.org/10.1002/mus.24263DOI Listing
September 2014

LRRK2: cause, risk, and mechanism.

J Parkinsons Dis 2013 ;3(2):85-103

Department of Neurology, Psychiatry, and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, NY, USA.

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http://dx.doi.org/10.3233/JPD-130192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3952583PMC
June 2014

Variable phenotypic expression in families with early-onset Parkinsonism due to PRKN mutations.

J Neurol 2014 Jun 30;261(6):1223-6. Epub 2014 Apr 30.

Movement Disorders Clinic, Hazrat Rasool Hospital, Tehran University of Medical Sciences, Tehran, Iran.

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http://dx.doi.org/10.1007/s00415-014-7360-5DOI Listing
June 2014

The LRRK2 G2019S mutation in a series of Argentinean patients with Parkinson's disease: clinical and demographic characteristics.

Neurosci Lett 2013 Mar 20;537:1-5. Epub 2013 Jan 20.

Department of Movement Disorders, Instituto Neurociencias de Buenos Aires (INEBA), Buenos Aires, Argentina.

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http://dx.doi.org/10.1016/j.neulet.2013.01.011DOI Listing
March 2013

The use of next-generation sequencing in movement disorders.

Front Genet 2012 14;3:75. Epub 2012 May 14.

Department of Neurology, Mount Sinai School of Medicine New York, NY, USA.

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http://journal.frontiersin.org/article/10.3389/fgene.2012.00
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http://dx.doi.org/10.3389/fgene.2012.00075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351011PMC
October 2012

Thinning of the corpus callosum and cerebellar atrophy is correlated with phenotypic severity in a family with spastic paraplegia type 11.

J Clin Neurol 2011 Jun 28;7(2):102-4. Epub 2011 Jun 28.

Department of Molecular Neurosciences and MRC Centre for Neuromuscular Diseases, UCL-Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.3988/jcn.2011.7.2.102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3131536PMC
June 2011

Genetic variability at the PARK16 locus.

Eur J Hum Genet 2010 Dec 4;18(12):1356-9. Epub 2010 Aug 4.

Department of Molecular Neuroscience and Reta Lila Weston Institute, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1038/ejhg.2010.125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002857PMC
December 2010

Common pathogenic pathways in melanoma and Parkinson disease.

Neurology 2010 Nov;75(18):1653-5

Molecular Neuroscience Department, UCL Institute of Neurology, University College London, Queen Square, London, UK.

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http://www.neurology.org/cgi/doi/10.1212/WNL.0b013e3181fb446
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http://dx.doi.org/10.1212/WNL.0b013e3181fb4466DOI Listing
November 2010

Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms.

Mov Disord 2010 Jul;25(10):1424-31

Center for Brain and Nervous Diseases, Kokilaben Dhirubhai Ambani Hospital and Medical Research Institute, Mumbai, India.

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http://dx.doi.org/10.1002/mds.23095DOI Listing
July 2010

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.

Mov Disord 2010 Jun;25(8):979-84

Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.22947DOI Listing
June 2010

POLG1 polyglutamine tract variants associated with Parkinson's disease.

Neurosci Lett 2010 Jun 24;477(1):1-5. Epub 2010 Apr 24.

Department of Neurology, Helsinki University Central Hospital, FIN-00290 Helsinki, Finland.

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http://dx.doi.org/10.1016/j.neulet.2010.04.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2905783PMC
June 2010

Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder.

Am J Med Genet B Neuropsychiatr Genet 2009 Oct;150B(7):993-7

Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London, United Kingdom.

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http://doi.wiley.com/10.1002/ajmg.b.30929
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http://dx.doi.org/10.1002/ajmg.b.30929DOI Listing
October 2009

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal.

Neurobiol Aging 2009 Sep 21;30(9):1515-7. Epub 2007 Dec 21.

Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neurobiolaging.2007.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2736795PMC
September 2009

LRRK2 gene variation and its contribution to Parkinson disease.

Hum Mutat 2009 Aug;30(8):1153-60

Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, 9th Floor, Queen Square House, Queen Square, London WC1N 3BG, England.

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http://dx.doi.org/10.1002/humu.21038DOI Listing
August 2009

GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.

Mov Disord 2009 Aug;24(11):1684-8

Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.22507DOI Listing
August 2009

Parkinson's disease and low frequency alleles found together throughout LRRK2.

Ann Hum Genet 2009 Jul 21;73(Pt 4):391-403. Epub 2009 May 21.

Molecular Neuroscience Department and Reta Lila Weston Laboratories, UCL Institute of Neurology, Queen Square, London, England.

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http://dx.doi.org/10.1111/j.1469-1809.2009.00524.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5217459PMC
July 2009

The genetics of Parkinson's syndromes: a critical review.

Curr Opin Genet Dev 2009 Jun 4;19(3):254-65. Epub 2009 May 4.

Reta Lila Weston Institute and Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, England, UK.

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http://dx.doi.org/10.1016/j.gde.2009.03.008DOI Listing
June 2009

Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece.

Neurosci Lett 2009 Mar 15;452(2):87-9. Epub 2009 Jan 15.

Department of General Biology, Medical School, Aristotle University of Thessaloniki, GR-54124, Thessaloniki, Greece.

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http://dx.doi.org/10.1016/j.neulet.2009.01.029DOI Listing
March 2009

Characterization of PLA2G6 as a locus for dystonia-parkinsonism.

Ann Neurol 2009 Jan;65(1):19-23

Laboratory of Neurogenetics, National Institute on Aging, Intramural Research Program, National Institutes of Health, Bethesda, MD, USA.

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http://doi.wiley.com/10.1002/ana.21415
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http://dx.doi.org/10.1002/ana.21415DOI Listing
January 2009

Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls.

Hum Mutat 2008 Apr;29(4):485-90

Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/humu.20668DOI Listing
April 2008

Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening.

Mov Disord 2008 Mar;23(4):518-23

Memory Unit, Alzheimer's Laboratory, and Centro de Investigación Biomédica en Red (CIBERNED), Neurology Department, Sant Pau Hospital, Barcelona, Spain.

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http://dx.doi.org/10.1002/mds.21771DOI Listing
March 2008

Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation.

Neurodegener Dis 2007 6;4(5):386-91. Epub 2007 Jul 6.

Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Research Center, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1159/000105160DOI Listing
October 2007

The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases.

Neurosci Lett 2005 Dec;389(3):137-9

Laboratory of Neurogenetics, National Institutes on Aging and of Neurological Diseases and Stroke, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neulet.2005.07.044DOI Listing
December 2005

Familial Parkinson's disease: clinical and genetic analysis of four Basque families.

Ann Neurol 2005 Mar;57(3):365-72

Unitat de Genètica Molecular, Institut de Biomedicina de València-CSIC, Jaume Roig 11, E 46010 València, Spain.

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http://dx.doi.org/10.1002/ana.20391DOI Listing
March 2005

Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.

Ann Neurol 2005 Mar;57(3):453-6

Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Department of Health and Human Services, Porter Neuroscience Research Center, 9000 Rockville Pike, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1002/ana.20401DOI Listing
March 2005

Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease.

Lancet 2005 Jan 29-Feb 4;365(9457):410-2

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1016/S0140-6736(05)17828-3DOI Listing
February 2005