Maria Kousi

Maria Kousi

UNVERIFIED PROFILE

Are you Maria Kousi?   Register this Author

Register author
Maria Kousi

Maria Kousi

Publications by authors named "Maria Kousi"

Are you Maria Kousi?   Register this Author

24Publications

1113Reads

23Profile Views

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.

Hum Genomics 2019 04 16;13(1):19. Epub 2019 Apr 16.

Center for Human Disease Modeling, Duke University Medical Center, Carmichael Building, 300 North Duke Street, Suite 48-118, Durham, NC, 27701, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40246-019-0203-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469102PMC
April 2019

Biallelic mutations in early-onset, variably progressive neurodegeneration.

Neurology 2018 07 29;91(4):e319-e330. Epub 2018 Jun 29.

From the Genetics and Rare Diseases Research Division (V.M., G.C., T.R., M.D.N., A.C., F.P., R.C., M.T.), Ospedale Pediatrico Bambino Gesù; Department of Oncology and Molecular Medicine (E.F., S.M.) and Confocal Microscopy Unit (S.C.), Core Facilities, Istituto Superiore di Sanità, Rome, Italy; Center for Human Disease Modeling (Z.K., M.M.K., N.K.), Duke University School of Medicine, Durham, NC; Institutes of Neurology (G.P., S.S.) and Nuclear Medicine (D.D.G.), Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy; Department of Genetics (H.G., N.M.), Faculty of Science, Shahid Chamran University of Ahvaz; Narges Medical Genetics and Prenatal Diagnosis Laboratory (H.G., N.M., A. Sedaghat, J.Z., G.R.S.), Kianpars, Ahvaz; Research and Clinical Center for Infertility (M.D.), Yazd Reproductive Sciences Institute, Medical Genetics Research Centre (M.D., M.Y.V.M.), and Department of Medical Genetics (M.Y.V.M.), Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Department of Experimental Medicine (A.T., V.C.), Università "Sapienza," Rome, Italy; Genetics and Molecular Cell Sciences Research Centre (Y.J., R.M.), St. George's University of London, UK; Department of Paediatric Neurology (R.A.M.), Golestan Medical, Educational, and Research Center, and Department of Medical Genetics (G.R.S.), Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Iran; University of Exeter Medical School (A.R.J.), RILD, Royal Devon & Exeter Hospital, UK; and Department of Neurology (A. Sherafat), Kerman University of Medical Sciences, Iran.

View Article

Download full-text PDF

Source
http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000005869DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070386PMC
July 2018

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Am J Hum Genet 2017 Sep;101(3):466-477

Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591022PMC
September 2017

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.

J Neuromuscul Dis 2016 11;3(4):475-485

Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JND-160186DOI Listing
November 2016

The Genetic Basis of Hydrocephalus.

Annu Rev Neurosci 2016 07 2;39:409-35. Epub 2016 May 2.

Center for Human Disease Modeling, Duke University School of Medicine, Durham, North Carolina 27701; email:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1146/annurev-neuro-070815-014023DOI Listing
July 2016

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

Hum Mol Genet 2015 Oct 17;24(20):5677-86. Epub 2015 Jul 17.

Bioinformatics and Genomics Program, Centre for Genomic Regulation (CRG), Barcelona, Spain, Universitat Pompeu Fabra (UPF), Barcelona, Spain, Hospital del Mar Medical Research Institute (IMIM), Barcelona, Spain, CRG CIBER de Epidemiología y Salud Pública (CIBERESP), Barcelona, Catalonia 08003, Spain, Dexeus Women's Health, University Hospital Quiron-Dexeus, Barcelona, Catalonia 08028, Spain

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692992PMC
October 2015

Genetic modifiers and oligogenic inheritance.

Cold Spring Harb Perspect Med 2015 Jun 1;5(6). Epub 2015 Jun 1.

Center for Human Disease Modeling, Duke University, Durham, North Carolina 27710.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/cshperspect.a017145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4448705PMC
June 2015

Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome.

Am J Hum Genet 2014 Jul;95(1):85-95

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, 85764 Munich, Germany; Institut für Humangenetik, Technische Universität München, 81675 Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; Department of Neurology and Neurosciences, Center for Sleep Sciences and Medicine, Stanford University, Palo Alto, CA 94304, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2014.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4085638PMC
July 2014

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

Hum Mutat 2012 Jan 16;33(1):42-63. Epub 2011 Nov 16.

Folkhälsan Institute of Genetics, Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21624DOI Listing
January 2012

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

Brain 2009 Mar 5;132(Pt 3):810-9. Epub 2009 Feb 5.

Folkhälsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, University of Helsinki, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awn366DOI Listing
March 2009