Susana Carmona

Susana Carmona

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Susana Carmona

Susana Carmona

Publications by authors named "Susana Carmona"

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Heritability and genetic variance of dementia with Lewy bodies.

Neurobiol Dis 2019 07 3;127:492-501. Epub 2019 Apr 3.

Department of Neurodegenerative Diseases, UCL Institute of Neurology, London, UK; UK Dementia Research Institute (UK DRI) at UCL, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2019.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588425PMC
July 2019

A comprehensive screening of copy number variability in dementia with Lewy bodies.

Neurobiol Aging 2019 03 24;75:223.e1-223.e10. Epub 2018 Oct 24.

Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK; UK Dementia Research Institute (UK DRI) at UCL, London, UK; Department of Medical Sciences and Institute of Biomedicine, iBiMED, University of Aveiro, Aveiro, Portugal. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183038
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.10.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541211PMC
March 2019

splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria.

Neurol Genet 2018 Oct 19;4(5):e273. Epub 2018 Sep 19.

Department of Molecular Neuroscience (S.C., J.B., R.G.), UCL Institute of Neurology, University College London, United Kingdom; Paediatric Neurology Department (C.M., S.T.D.), Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central; Genetics Department (M.A.), Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central; Reference Center of Inherited Metabolic Diseases (A.C.F.), Centro Hospitalar de Lisboa Central; Neuroradiology Department (C.C.), Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal; UK Dementia Research Institute (J.B., R.G.), University College London, United Kingdom; and Department of Medical Sciences (J.B., R.G.), Institute of Biomedicine, iBiMED, University of Aveiro, Portugal.

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http://dx.doi.org/10.1212/NXG.0000000000000273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167175PMC
October 2018

Just-in-time response to reward as a function of ADHD symptom severity.

Psychiatry Clin Neurosci 2018 Sep 2;72(9):731-740. Epub 2018 Jul 2.

Psychiatry and Forensic Medicine Department, Autonomous University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1111/pcn.12689DOI Listing
September 2018

The genetic landscape of Alzheimer disease.

Handb Clin Neurol 2018 ;148:395-408

Department of Molecular Neuroscience, University College London Institute of Neurology, London, United Kingdom; Department of Medical Sciences, Institute of Biomedicine iBiMED, University of Aveiro, Aveiro, Portugal. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-64076-5.00026-0DOI Listing
August 2018

The role of TREM2 in Alzheimer's disease and other neurodegenerative disorders.

Lancet Neurol 2018 08 17;17(8):721-730. Epub 2018 Jul 17.

UK Dementia Research Institute, University College London, London, UK; Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK; Department of Medical Sciences and Institute of Biomedicine-iBiMED, University of Aveiro, Aveiro, Portugal. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(18)30232-1DOI Listing
August 2018

Mutations in TYROBP are not a common cause of dementia in a Turkish cohort.

Neurobiol Aging 2017 10 28;58:240.e1-240.e3. Epub 2017 Jun 28.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK; Department of Medical Sciences, Institute of Biomedicine-iBiMED, University of Aveiro, Aveiro, Portugal; UK Dementia Research Institute at UCL (UK DRI), London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.06.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985528PMC
October 2017

Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient.

Am J Med Genet A 2017 06 21;173(6):1607-1610. Epub 2017 Apr 21.

Next-Gen Sequencing Unit, UC-Biotech, Cantanhede, Portugal.

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http://dx.doi.org/10.1002/ajmg.a.38234DOI Listing
June 2017

Interobserver agreement on cortical tracer transit in 99mTc-MAG3 renography applied to congenital hydronephrosis.

Nucl Med Commun 2017 Feb;38(2):124-128

aNuclear Medicine Service, Garcia de Orta Hospital, E.P.E., Almada bNuclear Medicine Service, Francisco Gentil Portuguese Institute of Oncology from Porto, E.P.E. cEpidemiology and Statistics Research Unit, Central Lisbon Hospital Center, E.P.E. dNOVA Medical School FCM, Universidade Nova de Lisboa, Lisbon, Portugal eRadioisotopes Department, St Pierre University Hospital, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1097/MNM.0000000000000620DOI Listing
February 2017

Cortical morphometry in frontoparietal and default mode networks in math-gifted adolescents.

Hum Brain Mapp 2016 May 25;37(5):1893-902. Epub 2016 Feb 25.

Departamento De Bioingeniería E Ingeniería Aeroespacial, Universidad Carlos III Madrid, Madrid, Spain.

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http://dx.doi.org/10.1002/hbm.23143DOI Listing
May 2016

Sensation-to-cognition cortical streams in attention-deficit/hyperactivity disorder.

Hum Brain Mapp 2015 Jul 28;36(7):2544-57. Epub 2015 Mar 28.

Department of Radiology, Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts.

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http://dx.doi.org/10.1002/hbm.22790DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4484811PMC
July 2015

An independent components and functional connectivity analysis of resting state fMRI data points to neural network dysregulation in adult ADHD.

Hum Brain Mapp 2014 Apr 18;35(4):1261-72. Epub 2013 Feb 18.

Unitat de Recerca en Neurociència Cognitiva, Departament de Psiquiatria i Medicina Legal, Universitat Autònoma de Barcelona, Barcelona, Spain; Grup de Recerca en Neuroimatge, Fundació IMIM, Barcelona, Spain.

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http://dx.doi.org/10.1002/hbm.22250DOI Listing
April 2014

Stimulant drugs trigger transient volumetric changes in the human ventral striatum.

Brain Struct Funct 2014 Jan 27;219(1):23-34. Epub 2012 Nov 27.

Unitat de Recerca en Neurociència Cognitiva, Departament de Psiquiatria i Medicina Legal, Universitat Autònoma de Barcelona, Campus Bellaterra, 08193, Barcelona, Spain,

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http://dx.doi.org/10.1007/s00429-012-0481-7DOI Listing
January 2014

Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens.

J Skin Cancer 2013 13;2013:469671. Epub 2013 Oct 13.

Serviço de Dermatologia, Centro Hospitalar e Universitário de Coimbra, Praceta Mota Pinto, 3000-375 Coimbra, Portugal.

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http://dx.doi.org/10.1155/2013/469671DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3810429PMC
November 2013

Optimization of preservation and storage time of sponge tissues to obtain quality mRNA for next-generation sequencing.

Mol Ecol Resour 2012 Mar 4;12(2):312-22. Epub 2011 Dec 4.

Museum of Comparative Zoology, Department of Organismic and Evolutionary Biology, Harvard University, 26 Oxford Street, Cambridge, MA 02138, USA.

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http://dx.doi.org/10.1111/j.1755-0998.2011.03097.xDOI Listing
March 2012