Claudia Perandones

Claudia Perandones

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Claudia Perandones

Claudia Perandones

Publications by authors named "Claudia Perandones"

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Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.

Neurology 2018 06 11;90(23):e2059-e2067. Epub 2018 May 11.

From The Dalglish Family 22q Clinic for Adults and Department of Psychiatry (E.B., A.M.F., A.S.B.), Toronto General Research Institute (A.S.B.), and Division of Cardiology, Department of Medicine (A.S.B.), University Health Network, Toronto, Canada; De Hartekamp Groep (E.B.), Centre for People with Intellectual Disability, Haarlem; Department of Nuclear Medicine (E.B., J.B.), Academic Medical Center, Amsterdam, the Netherlands; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute (N.J.B., A.M.F., A.S.B.), Centre for Addiction and Mental Health, Toronto; Institute of Medical Science (N.J.B., M.M., A.E.L., A.S.B.), Division of Neurology, Department of Medicine (C.M., M.M., A.E.L.), and Department of Psychiatry (A.S.B.), University of Toronto; Deer Lodge Movement Disorders Centre (S.U.); Section of Neurology (S.U.), Division of Internal Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg; Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease Research (C.M., A.E.L.), Toronto Western Hospital and University of Toronto, Canada; Department of Molecular Neuroscience (K.Y.M., N.W.W.), UCL Institute of Neurology, London, UK; Department of Neurology (S.K.), Kansai Medical University, Osaka, Japan; Department of Neurology (M.J.B.), University of Virginia School of Medicine, Charlottesville; Medical Genetics Unit (P.P.), Perugia University Hospital, Italy; Department of Neurology (B.D.B.), University of Colorado Anschutz Medical Campus, Aurora; Neurology Section (B.D.B.), VA Eastern Colorado Health Care System, Denver; Cognitive & Movement Disorders Clinic and Hurvitz Brain Sciences Research Program (M.M.), Sunnybrook Health Sciences Centre, Toronto, Canada; Departments of Clinical Neurosciences (Movement Disorders) (B.D.) and Genetics (Neurogenetics) (K.N.), Timone University Hospital (AP-HM), Provence-Alpes-Côte d'Azur; Aix-Marseille University (B.D., K.N.), Marseille; Department of Genetics (Neurogenetics) (P.C., A.J.), Pitié-Salpêtrière University Hospital; Sorbonne University (P.C., A.J.), Paris; Department of Neurosciences (Movement Disorders) (E.M.), Lille University Hospital; Lille University (E.M.); Department of Neurology (Movement Disorders) (T.D.), Pierre Wertheimer University Hospital, Lyon; Marc Jeannerod Center for Cognitive Neurosciences (T.D.), Lyon-1 University; Department of Neurology (Movement Disorders) and Clinical Investigation Center (Clinical and Experimental Neurosciences) (O.C.), Poitiers University Hospital; Department of Neurology (Movement Disorders) (S.D.), Rennes University Hospital; Rennes-1 University (S.D.); Department of Clinical Neurosciences (Movement Disorders) (M.B.), Nice University Hospital, France; Department of Psychiatry (A.M.F.), Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, the Netherlands; Center for Human Genetics (E.V., A.S., A.V.), University Hospital Leuven; Department of Human Genetics (A.S.), KU Leuven, Belgium; Department of Neurology (A.P.), University of Munich, Germany; Scientific and Technological Coordination Unit of the ANLIS Directorate (C.P.), National Administration of Laboratories and Institutes of Health, Argentina; Department of Neurodegenerative Diseases (T.G.), Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (T.G.); Department of Neurology (K.C.), AZ Turnhout, Antwerp, Belgium; Neurology Unit and Stroke Center (F.B.), Hôpital Foch, Suresnes, France; Movement Disorder Division (K.M.), Johns Hopkins University, Baltimore, MD; and Psychological Medicine and Clinical Neurosciences (N.M.W.), MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff University, UK.

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http://dx.doi.org/10.1212/WNL.0000000000005660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993183PMC
June 2018

Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene.

Mov Disord Clin Pract 2017 Mar-Apr;4(2):266-269. Epub 2016 Jul 8.

Movement Disorders Section Neuroscience Department Raul Carrea Institute for Neurological Research (FLENI) Buenos Aires Argentina.

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http://dx.doi.org/10.1002/mdc3.12397DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353407PMC
July 2016

A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.

Mov Disord 2014 Jan 11;29(1):158-9. Epub 2013 Dec 11.

Parkinson's Disease and Movement Disorders Program, Hospital de Clínicas José de San Martín, University of Buenos Aires, Argentina.

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http://doi.wiley.com/10.1002/mds.25738
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http://dx.doi.org/10.1002/mds.25738DOI Listing
January 2014

Analysis of D216H polymorphism in Argentinean patients with primary dystonia.

J Neurogenet 2013 Jun 13;27(1-2):16-8. Epub 2013 Feb 13.

Servicio de Huellas Digitales Genéticas, School of Pharmacy and Biochemistry, University of Buenos Aires, CABA, Argentina.

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http://dx.doi.org/10.3109/01677063.2012.761697DOI Listing
June 2013

Different conformations of phosphatase and tensin homolog, deleted on chromosome 10 (PTEN) protein within the nucleus and cytoplasm of neurons.

PLoS One 2011 Apr 29;6(4):e18857. Epub 2011 Apr 29.

Laboratorio de Neuro y Citogenética Molecular, Centro de Estudios de Salud y Medio Ambiente, Universidad Nacional de San Martín-CONICET, Buenos Aires, Argentina.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0018857PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084716PMC
April 2011

Anp32e/Cpd1 regulates protein phosphatase 2A activity at synapses during synaptogenesis.

Eur J Neurosci 2006 Jan;23(2):309-24

Centro Nacional de Genética Médica, A.N.L.I.S, Programa Nacional de Genética Médica, Avenue, Las Heras 2670 (1425), Buenos Aires, Argentina.

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http://dx.doi.org/10.1111/j.1460-9568.2005.04555.xDOI Listing
January 2006

Family environment of individuals with oral clefts in Argentina.

Cleft Palate Craniofac J 2005 Mar;42(2):185-91

Boston University Schools of Medicine and Public Health, Boston, Massachusetts 02118, USA.

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http://dx.doi.org/10.1597/03-118.1DOI Listing
March 2005

Correlation between synaptogenesis and the PTEN phosphatase expression in dendrites during postnatal brain development.

Brain Res Mol Brain Res 2004 Sep;128(1):8-19

Fundación Instituto Leloir, (IIBBA-CONICET, IIB-FCEN-UBA), Avenue Patricias Argentinas 435, Buenos Aires 1405, Argentina.

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http://dx.doi.org/10.1016/j.molbrainres.2004.05.021DOI Listing
September 2004

Attitudes toward prenatal diagnosis, termination of pregnancy, and reproduction by parents of children with nonsyndromic oral clefts in Argentina.

Prenat Diagn 2003 Sep;23(9):722-7

Departments of Medicine and of Epidemiology, Boston University Schools of Medicine and Public Health, Boston, Massachusetts 02118, USA.

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http://dx.doi.org/10.1002/pd.674DOI Listing
September 2003