Publications by authors named "Conceicao Bettencourt"

62Publications

A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres.

J Neurol 2020 Sep 22;267(9):2705-2712. Epub 2020 May 22.

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1007/s00415-020-09827-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419361PMC
September 2020

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in .

J Pediatr Genet 2018 Sep 14;7(3):114-116. Epub 2018 Jun 14.

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

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http://dx.doi.org/10.1055/s-0038-1651526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6087480PMC
September 2018

Accumulation of Mitochondrial DNA Common Deletion Since The Preataxic Stage of Machado-Joseph Disease.

Mol Neurobiol 2019 Jan 21;56(1):119-124. Epub 2018 Apr 21.

Faculdade de Ciências e Tecnologia, Universidade dos Açores (UAc), Ponta Delgada, Portugal.

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http://dx.doi.org/10.1007/s12035-018-1069-xDOI Listing
January 2019

Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset.

J Neurol Neurosurg Psychiatry 2018 11 24;89(11):1226-1227. Epub 2018 Jan 24.

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

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http://dx.doi.org/10.1136/jnnp-2017-317253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6227801PMC
November 2018

Multiple system atrophy: genetic risks and alpha-synuclein mutations.

F1000Res 2017 30;6:2072. Epub 2017 Nov 30.

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

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http://dx.doi.org/10.12688/f1000research.12193.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710304PMC
November 2017

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

Am J Hum Genet 2017 Sep;101(3):451-458

Nuffield Department of Clinical Neurosciences, University of Oxford, 6th Floor West Wing, John Radcliffe Hospital, Oxford OX3 9DU, UK; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford OX3 7HE, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591020PMC
September 2017

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Neurobiol Aging 2016 11 8;47:218.e1-218.e9. Epub 2016 Aug 8.

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK; MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Queen Square, London, UK; Neurogenetics Laboratory, Institute of Neurology, University College London, Queen Square, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.07.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082791PMC
November 2016

Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients.

Neuromolecular Med 2017 Mar 31;19(1):41-45. Epub 2016 May 31.

Department of Biology, University of the Azores, Rua Mãe de Deus, Apartado 1422, 9501-801, Ponta Delgada, Azores, Portugal.

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http://dx.doi.org/10.1007/s12017-016-8416-8DOI Listing
March 2017

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Brain 2016 07 23;139(Pt 7):1904-18. Epub 2016 May 23.

1 Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK 2 Alzheimer's Disease Research Centre, Department of Neurology, Harvard Medical School and Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, USA

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http://dx.doi.org/10.1093/brain/aww111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939695PMC
July 2016

Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations.

J Neurol 2016 Aug 13;263(8):1503-10. Epub 2016 May 13.

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

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http://dx.doi.org/10.1007/s00415-016-8148-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971038PMC
August 2016

Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias.

J Mol Neurosci 2016 Jan 10;58(1):83-7. Epub 2015 Oct 10.

Department of Biology/CIRN, University of the Azores, Rua da Mãe de Deus - Apartado 1422, 9501-801, Ponta Delgada, Azores, Portugal.

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http://link.springer.com/10.1007/s12031-015-0646-y
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http://dx.doi.org/10.1007/s12031-015-0646-yDOI Listing
January 2016

Genetic advances in sporadic inclusion body myositis.

Curr Opin Rheumatol 2015 Nov;27(6):586-94

MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.

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http://dx.doi.org/10.1097/BOR.0000000000000213DOI Listing
November 2015

Replicating studies of genetic modifiers in spinocerebellar ataxia type 3: can homogeneous cohorts aid?

Brain 2015 Dec 14;138(Pt 12):e398. Epub 2015 Jul 14.

1 Department of Biology, University of the Azores, Ponta Delgada, Portugal 1 Department of Biology, University of the Azores, Ponta Delgada, Portugal 1 Department of Biology, University of the Azores, Ponta Delgada, Portugal.

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http://brain.oxfordjournals.org/content/brain/early/2015/07/
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http://brain.oxfordjournals.org/content/brain/early/2015/07/
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http://www.brain.oxfordjournals.org/lookup/doi/10.1093/brain
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http://dx.doi.org/10.1093/brain/awv206DOI Listing
December 2015

Expanding the Phenotype and Genetic Defects Associated with the Gene.

Mov Disord Clin Pract 2015 Sep 17;2(3):271-273. Epub 2015 Jun 17.

Department of Molecular Neuroscience UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery (NHNN) London United Kingdom.

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http://doi.wiley.com/10.1002/mdc3.12190
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http://dx.doi.org/10.1002/mdc3.12190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6178697PMC
September 2015

Exome sequencing uncovers hidden pathways in familial and sporadic ALS.

Nat Neurosci 2015 May;18(5):611-3

Department of Molecular Neuroscience and the Medical Research Council Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery and University College London Institute of Neurology, London, UK.

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http://dx.doi.org/10.1038/nn.4012DOI Listing
May 2015

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.

Neurobiol Aging 2015 Apr 14;36(4):1766.e1-1766.e3. Epub 2015 Jan 14.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK; Medical Research Council Centre for Neuromuscular Diseases, Institute of Neurology, University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.12.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378665PMC
April 2015

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Am J Hum Genet 2014 Nov 30;95(5):590-601. Epub 2014 Oct 30.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Department of Molecular Neurosciences, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225647PMC
November 2014

Sporadic inclusion body myositis: the genetic contributions to the pathogenesis.

Orphanet J Rare Dis 2014 Jun 19;9:88. Epub 2014 Jun 19.

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

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http://dx.doi.org/10.1186/1750-1172-9-88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4071018PMC
June 2014

Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis.

J Neurol Sci 2014 Apr 1;339(1-2):220-2. Epub 2014 Feb 1.

Department of Molecular Neuroscience, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1016/j.jns.2014.01.034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3988988PMC
April 2014

Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3).

BMC Neurol 2014 Jan 22;14:17. Epub 2014 Jan 22.

Center of Research in Natural Resources (CIRN), University of the Azores, Rua Mãe de Deus, Apartado 1422, 9501-801 Ponta Delgada, Portugal.

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http://dx.doi.org/10.1186/1471-2377-14-17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901765PMC
January 2014

"Mimicking" capacity of spinocerebellar ataxia type 3: the details matter.

J Neurol Sci 2013 Mar 13;326(1-2):120-1; author reply 122. Epub 2013 Feb 13.

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http://dx.doi.org/10.1016/j.jns.2013.01.022DOI Listing
March 2013

Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of Machado-Joseph disease.

Neurodegener Dis 2013 20;11(4):206-14. Epub 2012 Jul 20.

Center of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada, Portugal.

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http://dx.doi.org/10.1159/000339207DOI Listing
November 2013

Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.

Hum Mutat 2012 Sep 16;33(9):1315-23. Epub 2012 Jul 16.

Laboratorio de Biología Molecular, Instituto de Enfermedades Neurológicas, Fundación Socio-Sanitaria de Castilla la Mancha, Guadalajara, Spain.

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http://dx.doi.org/10.1002/humu.22148DOI Listing
September 2012

Transcript diversity of Machado-Joseph disease gene (ATXN3) is not directly determined by SNPs in exonic or flanking intronic regions.

J Mol Neurosci 2013 Mar 16;49(3):539-43. Epub 2012 Jun 16.

Institute for Molecular and Cell Biology (IBMC), University of Porto, 4150, Porto, Portugal.

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http://dx.doi.org/10.1007/s12031-012-9832-3DOI Listing
March 2013

The APOE ε2 allele increases the risk of earlier age at onset in Machado-Joseph disease.

Arch Neurol 2011 Dec;68(12):1580-3

Center of Research in Natural Resources and Department of Biology, University of Azores, Rua Mãe de Deus-Apartado 1422, 9501-801 Ponta Delgada, Azores, Portugal.

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http://dx.doi.org/10.1001/archneurol.2011.636DOI Listing
December 2011

Machado-Joseph Disease: from first descriptions to new perspectives.

Orphanet J Rare Dis 2011 Jun 2;6:35. Epub 2011 Jun 2.

Center of Research in Natural Resources (CIRN), Department of Biology, University of the Azores, Ponta Delgada, Portugal.

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http://dx.doi.org/10.1186/1750-1172-6-35DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3123549PMC
June 2011

Cross-sectional study of risk factors for atherosclerosis in the Azorean population.

Ann Hum Biol 2011 May 15;38(3):354-9. Epub 2011 Feb 15.

Center of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada, Portugal.

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http://dx.doi.org/10.3109/03014460.2011.553203DOI Listing
May 2011

The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls.

Eur J Hum Genet 2010 May 25;18(5):621-3. Epub 2009 Nov 25.

Center of Research in Natural Resources and Department of Biology, University of the Azores, Ponta Delgada, Portugal.

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http://dx.doi.org/10.1038/ejhg.2009.215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987309PMC
May 2010

Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3).

Neurogenetics 2010 May 28;11(2):193-202. Epub 2009 Aug 28.

Center of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada, Portugal.

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http://dx.doi.org/10.1007/s10048-009-0216-yDOI Listing
May 2010

Genetic profiling of the Azores Islands (Portugal): data from 10 X-chromosome STRs.

Am J Hum Biol 2010 Mar-Apr;22(2):221-3

Center for Research in Natural Resources, and Department of Biology, University of the Azores, Ponta Delgada, Portugal.

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http://dx.doi.org/10.1002/ajhb.20971DOI Listing
April 2010

Analysis of segregation patterns in Machado-Joseph disease pedigrees.

J Hum Genet 2008 9;53(10):920-923. Epub 2008 Aug 9.

Center of Research in Natural Resources (CIRN) and Department of Biology, University of the Azores, Rua Mãe de Deus, Apartado 1422, 9501-801, Ponta Delgada, Azores, Portugal.

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http://link.springer.com/content/pdf/10.1007/s10038-008-0330
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http://www.nature.com/doifinder/10.1007/s10038-008-0330-y
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http://dx.doi.org/10.1007/s10038-008-0330-yDOI Listing
November 2008

Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).

J Hum Genet 2008 20;53(4):333-339. Epub 2008 Feb 20.

Department of Biology/CIRN, University of the Azores, Rua Mãe de Deus, Apartado 1422, 9501-801, Ponta Delgada, Azores, Portugal.

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http://dx.doi.org/10.1007/s10038-008-0261-7DOI Listing
June 2008

The African contribution to the present-day population of the Azores Islands (Portugal): analysis of the Y chromosome haplogroup E.

Am J Hum Biol 2007 Nov-Dec;19(6):854-60

Department of Biology, Center of Research in Natural Resources (CIRN), University of the Azores, Portugal.

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http://dx.doi.org/10.1002/ajhb.20651DOI Listing
January 2008

Polymorphism of the APOE locus in the Azores Islands (Portugal).

Hum Biol 2006 Aug;78(4):509-12

Center of Research in Natural Resources (CIRN), University of the Azores, Ponta Delgada, San Miguel, Azores, Portugal.

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http://dx.doi.org/10.1353/hub.2006.0053DOI Listing
August 2006

Understanding differences between phylogenetic and pedigree-derived mtDNA mutation rate: a model using families from the Azores Islands (Portugal).

Mol Biol Evol 2005 Jun 6;22(6):1490-505. Epub 2005 Apr 6.

Anthropology Unit, Department BABVE, Faculty of Sciences, Autonomous University of Barcelona, 08193 Bellaterra, Barcelona, Spain.

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http://dx.doi.org/10.1093/molbev/msi141DOI Listing
June 2005