Rita J Guerreiro

Rita J Guerreiro

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Rita J Guerreiro

Rita J Guerreiro

Publications by authors named "Rita J Guerreiro"

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18Publications

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CLN8 disease caused by large genomic deletions.

Mol Genet Genomic Med 2017 Jan 23;5(1):85-91. Epub 2016 Nov 23.

MRC Laboratory for Molecular Cell Biology Genetics and Genomics Medicine Unit Department of Genetics, Evolution and Environment Institute of Child Health University College London Gower Street London WC1E 6BT UK.

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http://dx.doi.org/10.1002/mgg3.263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241206PMC
January 2017

Mutation of TBCK causes a rare recessive developmental disorder.

Neurol Genet 2016 Jun 24;2(3):e76. Epub 2016 May 24.

Department of Molecular Neuroscience (R.J.G., J.B.), Institute of Neurology; MRC Laboratory for Molecular Cell Biology (R.B., S.E.M.), University College London; Manchester Centre for Genomic Medicine (D.D.), University of Manchester and Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust; Royal Preston Hospital (C.d.G.), Genetics and Genomics Medicine Programme (S.E.M.), UCL Institute of Child Health and Department of Genetics, Evolution and Environment, University College London, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881620PMC
June 2016

The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?

J Neurosci Res 2016 Apr 13;94(4):339-47. Epub 2016 Jan 13.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1002/jnr.23710DOI Listing
April 2016

H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

Mov Disord 2015 May 27;30(6):828-33. Epub 2014 Dec 27.

Sobell Department of Motor Neuroscience and Movement Disorders, University College London (UCL) Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.26129DOI Listing
May 2015

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.

Hum Mol Genet 2012 Jun 2;21(12):2646-50. Epub 2012 Mar 2.

Department of Molecular Neuroscience, Institute of Neurology, UCL, London, UK.

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http://dx.doi.org/10.1093/hmg/dds089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3363329PMC
June 2012

The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE.

Neurobiol Aging 2012 Mar 1;33(3):437-56. Epub 2010 Jul 1.

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

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http://dx.doi.org/10.1016/j.neurobiolaging.2010.03.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2980860PMC
March 2012

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Neuron 2011 Oct 21;72(2):257-68. Epub 2011 Sep 21.

Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neuron.2011.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200438PMC
October 2011

Alzheimer's disease genetics: lessons to improve disease modelling.

Biochem Soc Trans 2011 Aug;39(4):910-6

Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1042/BST0390910DOI Listing
August 2011

A case of dementia with PRNP D178Ncis-129M and no insomnia.

Alzheimer Dis Assoc Disord 2009 Oct-Dec;23(4):415-7

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

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http://dx.doi.org/10.1097/WAD.0b013e3181ae3a76DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2787867PMC
July 2010

A thorough assessment of benign genetic variability in GRN and MAPT.

Hum Mutat 2010 Feb;31(2):E1126-40

Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/humu.21152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2815037PMC
February 2010

TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.

PLoS One 2008 Jun 11;3(6):e2450. Epub 2008 Jun 11.

Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, Maryland, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0002450PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2408729PMC
June 2008