Publications by authors named "Beatriz Quintáns"

23Publications

Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36.

Neuron 2020 07 5;107(2):292-305.e6. Epub 2020 May 5.

Department of Cell Biology, Emory University, Atlanta, GA 30322, USA; Laboratory for Translational Cell Biology, Emory University, Atlanta, GA 30322, USA; Wallace H. Coulter Graduate Program in Biomedical Engineering, Georgia Institute of Technology & Emory University, Atlanta, GA 30332, USA; Department of Neurology, Emory University, Atlanta, GA 30322, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2020.04.011DOI Listing
July 2020

Primary familial brain calcifications.

Handb Clin Neurol 2018 ;147:307-317

Instituto de Investigación Sanitaria (IDIS), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/B97804446323330
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http://dx.doi.org/10.1016/B978-0-444-63233-3.00020-8DOI Listing
July 2018

Prevalence of spinocerebellar ataxia 36 in a US population.

Neurol Genet 2017 Aug 18;3(4):e174. Epub 2017 Jul 18.

Program in Neurogenetics (J.M.V., T.D., D.H.G., S.P., B.L.F.), Department of Neurology and Department of Human Genetics (D.H.G., B.L.F.), David Geffen School of Medicine, University of California Los Angeles; The Human Genetics Center (L.E.P., J.E.B.), University of Texas School of Public Health, Houston; Fundación Pública Galega de Medicina Xenómica-SERGAS (B.Q., Z.Y., M.J.S.), Instituto de Investigación Sanitaria (IDIS), Santiago de Compostela; Genomic Medicine Group (U711) (B.Q., Z.Y., M.J.S.), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III, Madrid, Spain; Grupo del Investigación en Genética (Z.Y.), Universidad Simón Bolívar, Barranquilla, Colombia; Department of Molecular and Human Genetics (E.B., D.M., R.G., J.R.L.) and Human Genome Center (J.R.L.), Baylor College of Medicine, Houston, TX; and Department of Integrative Biology and Pharmacology (D.A., R.B.), Institute of Molecular Medicine Center for Metabolic and Degenerative Diseases (R.B.), and Cell and Regulatory Biology Program of The University of Texas Graduate School of Biomedical Sciences (R.B.), McGovern Medical School at The University of Texas Health Science Center at Houston.

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http://dx.doi.org/10.1212/NXG.0000000000000174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5515602PMC
August 2017

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

Am J Hum Genet 2017 Jul;101(1):87-103

Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal; Genetics of Cognitive Dysfunction Laboratory, Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501871PMC
July 2017

PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36.

Mov Disord 2017 02 10;32(2):264-273. Epub 2016 Nov 10.

Department of Nuclear Medicine and Molecular Imaging Group, University Hospital of Santiago de Compostela (CHUS), IDIS Health Research Institute, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1002/mds.26854DOI Listing
February 2017

Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico.

J Neurol Sci 2016 Mar 8;362:321-5. Epub 2016 Feb 8.

Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain; Grupo de Medicina Xenómica, Fundación Pública Galega de Medicina Xenómica-SERGAS, Santiago de Compostela, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Institute of Health Carlos III, Spain.

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http://dx.doi.org/10.1016/j.jns.2016.02.014DOI Listing
March 2016

No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population.

Am J Med Genet B Neuropsychiatr Genet 2015 Jan 28;168B(1):54-65. Epub 2014 Oct 28.

Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica, CIBERER, IDIS, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1002/ajmg.b.32276DOI Listing
January 2015

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

Am J Hum Genet 2014 Aug 24;95(2):143-61. Epub 2014 Jul 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics Laboratories, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.06.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129405PMC
August 2014

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

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

Nat Genet 2012 Feb 12;44(3):254-6. Epub 2012 Feb 12.

Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.

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http://dx.doi.org/10.1038/ng.1077DOI Listing
February 2012

New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0.

PLoS One 2009 2;4(4):e5112. Epub 2009 Apr 2.

Unidade de Xenética, Instituto de Medicina Legal and Departamento de Anatomía Patolóxica y Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0005112PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2660437PMC
July 2009

SNaPshot typing of mitochondrial DNA coding region variants.

Methods Mol Biol 2005 ;297:197-208

Institute of Legal Medicine, Faculty of Medicine, University of Santiago de Compostela, Santiago de Compostela, Galicia, Spain.

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http://dx.doi.org/10.1385/1-59259-867-6:197DOI Listing
April 2005

A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease.

Arch Neurol 2004 Jul;61(7):1108-10

Department of Pathology and Neuropathology, Hospital Meixoeiro, 36215 Vigo, Spain.

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http://dx.doi.org/10.1001/archneur.61.7.1108DOI Listing
July 2004

Population data of Galicia (NW Spain) on the new Y-STRs DYS437, DYS438, DYS439, GATA A10, GATA A7.1, GATA A7.2, GATA C4 and GATA H4.

Forensic Sci Int 2003 Jan;131(2-3):220-4

Faculty of Medicine, Institute of Legal Medicine, University of Santiago de Compostela, C/San Francisco s/n, 15782 Santiago de Compostela, Galicia, Spain.

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http://dx.doi.org/10.1016/s0379-0738(02)00447-4DOI Listing
January 2003