Publications by authors named "Isabel Alonso"

75Publications

Going Deep into Synaptic Vesicle Machinery Genes and Migraine Susceptibility - A Case-Control Association Study.

Headache 2020 Sep 26. Epub 2020 Sep 26.

UnIGENe, IBMC - Institute for Molecular and Cell Biology, Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1111/head.13957DOI Listing
September 2020

ERAS protocol compliance impact on functional recovery in colorectal surgery.

Cir Esp 2020 Jun 18. Epub 2020 Jun 18.

Servicio de Cirugía General, Hospital Universitario Puerta de Hierro Majadahonda, Madrid, España.

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http://dx.doi.org/10.1016/j.ciresp.2020.05.010DOI Listing
June 2020

A late-onset congenital myasthenic syndrome due to a heterozygous DOK7 mutation.

Neuromuscul Disord 2020 04 23;30(4):331-335. Epub 2020 Feb 23.

Center for Predictive and Preventive Genetics (CGPP), Institute of Molecular and Cellular Biology (IBMC), Porto, Portugal; 3S - Institute of Investigation and Innovation in Health, Universidade do Porto, Porto, Portugal; UnIGENe (Unit for Genetic and Epidemiological Research in Neurological Diseases), IBMC (Institute for Molecular and Cell Biology), Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1016/j.nmd.2020.02.009DOI Listing
April 2020

Novel Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype.

J Clin Med 2020 Apr 23;9(4). Epub 2020 Apr 23.

Center for Neurodegenerative Science, Van Andel Institute, Grand Rapids, Michigan, MI 49503, USA.

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http://dx.doi.org/10.3390/jcm9041212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230264PMC
April 2020

Determinants of age at onset in a Portuguese cohort of autosomal dominant spastic paraplegia.

J Neurol Sci 2020 Mar 24;410:116646. Epub 2019 Dec 24.

Neurology Department, Centro Hospitalar Entre Douro e Vouga, Santa Maria da Feira, Portugal; Institute for Molecular and Cell Biology, I3S, Porto, Portugal.

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http://dx.doi.org/10.1016/j.jns.2019.116646DOI Listing
March 2020

Parkin truncating variants result in a loss-of-function phenotype.

Sci Rep 2019 11 6;9(1):16150. Epub 2019 Nov 6.

UnIGENe, IBMC - Institute for Molecular and Cell Biology, i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1038/s41598-019-52534-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6834586PMC
November 2019

Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism.

J Pediatr Endocrinol Metab 2019 Nov;32(11):1265-1273

Department of Pediatrics, Pediatric Endocrinology Unit, Centro Hospitalar S. João, Alameda Prof. Hernâni Monteiro, Porto, Portugal.

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http://dx.doi.org/10.1515/jpem-2019-0047DOI Listing
November 2019

Diagnostic yield of next-generation sequencing applied to neurological disorders.

J Clin Neurosci 2019 Sep 2;67:14-18. Epub 2019 Jul 2.

Neurogenetics Unit, Department of Medical Genetics, Centro Hospitalar Universitário de São João, E.P.E. Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.jocn.2019.06.041DOI Listing
September 2019

GNAO1 mutation presenting as dyskinetic cerebral palsy.

Neurol Sci 2019 Oct 12;40(10):2213-2216. Epub 2019 Jun 12.

Department of Neurology, Centro Hospitalar do Porto, Largo Professor Abel Salazar, 4099-001, Porto, Portugal.

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http://dx.doi.org/10.1007/s10072-019-03964-7DOI Listing
October 2019

Equal Footing of Thermal Expansion and Electron-Phonon Interaction in the Temperature Dependence of Lead Halide Perovskite Band Gaps.

J Phys Chem Lett 2019 Jun 22;10(11):2971-2977. Epub 2019 May 22.

Institut de Ciència de Materials de Barcelona (ICMAB-CSIC) , Campus UAB , 08193 Bellaterra , Spain.

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http://dx.doi.org/10.1021/acs.jpclett.9b00876DOI Listing
June 2019

and modify age-at-onset in familial amyloid polyneuropathy patients.

Ann Clin Transl Neurol 2019 Apr 7;6(4):748-754. Epub 2019 Mar 7.

i3S Instituto de Investigação e Inovação em Saúde Universidade do Porto Porto Portugal.

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http://dx.doi.org/10.1002/acn3.748DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469251PMC
April 2019

Proinflammatory and anti-inflammatory cytokines in the CSF of patients with Alzheimer's disease and their correlation with cognitive decline.

Neurobiol Aging 2019 04 7;76:125-132. Epub 2019 Jan 7.

Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Campus de Gualtar, Braga, Portugal; ICVS/3B's - PT Government Associate Laboratory, Braga, Guimarães, Portugal; Centro Clínico Académico (2CA), Braga, Portugal.

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.12.019DOI Listing
April 2019

Clinical spectrum of C9orf72 expansion in a cohort of Huntington's disease phenocopies.

Neurol Sci 2018 Apr 13;39(4):741-744. Epub 2018 Feb 13.

Neurology Department, Centro Hospitalar do Porto, Largo do Professor Abel Salazar, 4099-001, Porto, Portugal.

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http://dx.doi.org/10.1007/s10072-018-3268-7DOI Listing
April 2018

Rare Neurodegenerative Diseases: Clinical and Genetic Update.

Adv Exp Med Biol 2017 ;1031:443-496

Functional Biology and Experimental Therapeutics Laboratory, Functional and Translational Neurogenetics Unit, Department of Neurosciences, Health Sciences Research Institute Germans Trias-IGTP, Can Ruti Campus, Ctra de Can Ruti, Camí de les Escoles s/n, 08916, Badalona, Barcelona, Spain.

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http://dx.doi.org/10.1007/978-3-319-67144-4_25DOI Listing
June 2018

mtDNA copy number associated with age of onset in familial amyloid polyneuropathy.

J Neurol Neurosurg Psychiatry 2018 03 10;89(3):300-304. Epub 2017 Oct 10.

Centre for Neuroscience and Cell Biology, Laboratory of Biochemical Genetics (LGB), Universidade de Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1136/jnnp-2017-316657DOI Listing
March 2018

A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal.

Mol Neurobiol 2018 May 19;55(5):3676-3683. Epub 2017 May 19.

UnIGENe, IBMC-Institute for Molecular and Cell Biology; Institute for Research and Innovation in Health Sciences (i3S), University of Porto, 4200-135, Porto, Portugal.

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http://dx.doi.org/10.1007/s12035-017-0593-4DOI Listing
May 2018

A Portuguese rapid-onset dystonia-parkinsonism case with atypical features.

Neurol Sci 2017 09 12;38(9):1713-1714. Epub 2017 May 12.

Department of Neurology, Centro Hospitalar do Porto, Porto, Portugal.

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http://dx.doi.org/10.1007/s10072-017-2996-4DOI Listing
September 2017

Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset.

Ann Clin Transl Neurol 2017 02 20;4(2):98-105. Epub 2016 Dec 20.

i3S Instituto de Investigação e Inovação em Saúde Universidade do Porto Porto Portugal; UnIGENeIBMC - Institute for Molecular and Cell Biology Universidade do Porto Porto Portugal; ICBAS Instituto Ciências Biomédicas Abel Salazar Universidade do Porto Porto Portugal.

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http://dx.doi.org/10.1002/acn3.380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5288465PMC
February 2017

Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.

Neurol Genet 2016 Jun 3;2(3):e73. Epub 2016 May 3.

UnIGENe (S.M., J.S., I.A.), Institute for Molecular and Cell Biology; i3S (S.M., R.B.-F., J.S., I.A.), Instituto de Investigação e Inovação em Saúde; CGPP (R.B.-F., J.S., I.A.), Institute for Molecular and Cell Biology; and Instituto de Ciências Biomédicas Abel Salazar (J.S., I.A.), University of Porto, Portugal.

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http://dx.doi.org/10.1212/NXG.0000000000000073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856358PMC
June 2016

DJ-1 linked parkinsonism (PARK7) is associated with Lewy body pathology.

Brain 2016 06 16;139(Pt 6):1680-7. Epub 2016 Apr 16.

Department of Neurology, Centro Hospitalar do Porto, Porto, Portugal.

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http://dx.doi.org/10.1093/brain/aww080DOI Listing
June 2016

Large-Scale Functional RNAi Screen in C. elegans Identifies TGF-β and Notch Signaling Pathways as Modifiers of CACNA1A.

ASN Neuro 2016 Mar-Apr;8(2). Epub 2016 Mar 22.

UnIGENe, Institute for Molecular and Cell Biology (IBMC), Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Portugal Abel Salazar Institute for the Biomedical Sciences (ICBAS), University of Porto, Portugal CGPP, Institute for Molecular and Cell Biology (IBMC), Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Portugal

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http://dx.doi.org/10.1177/1759091416637025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811018PMC
December 2016

Equity in access to high cost drugs in Uruguay.

Value Health Reg Issues 2015 Dec 6;8:122-128. Epub 2015 Dec 6.

Departamento de Oncología de la Asociación Española Primera de Socorros Mutuos, Montevideo, Uruguay.

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http://dx.doi.org/10.1016/j.vhri.2015.09.006DOI Listing
December 2015

Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M).

Eur J Hum Genet 2016 May 19;24(5):756-60. Epub 2015 Aug 19.

UnIGENe, IBMC, Institute for Molecular and Cell Biology, and Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1038/ejhg.2015.180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930087PMC
May 2016

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.

Brain 2015 Aug 29;138(Pt 8):2191-205. Epub 2015 May 29.

1 INSERM, U 1127, F-75013, Paris, France 2 CNRS, UMR 7225, F-75013, Paris, France 3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France 4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France 6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France 9 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France

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http://dx.doi.org/10.1093/brain/awv143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553756PMC
August 2015

Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.

Am J Hum Genet 2015 Mar 26;96(3):474-9. Epub 2015 Feb 26.

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

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http://dx.doi.org/10.1016/j.ajhg.2015.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375449PMC
March 2015

Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.

Bipolar Disord 2015 Jun 26;17(4):403-8. Epub 2015 Feb 26.

Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1111/bdi.12289DOI Listing
June 2015

Shifting the CARASIL paradigm: report of a non-Asian family and literature review.

Stroke 2015 Apr 24;46(4):1110-2. Epub 2015 Feb 24.

From the Department of Neurology, Centro Hospitalar do Algarve, Hospital de Faro, Portugal (I.M.C., H.N., F.S., L.A., C.B.); Centro de Genética Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (R.B.F., I.A.); Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal (R.B.F., I.A.); and UnIGENe, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (I.A.).

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http://dx.doi.org/10.1161/STROKEAHA.114.006735DOI Listing
April 2015

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.

Am J Med Genet B Neuropsychiatr Genet 2015 Mar 5;168B(2):135-43. Epub 2015 Feb 5.

Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA; UnIGENe, IBMC-Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal.

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http://dx.doi.org/10.1002/ajmg.b.32289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006842PMC
March 2015

Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism.

Seizure 2015 Feb 19;25:62-4. Epub 2014 Dec 19.

Neurology Department, Hospital Santo António, Centro Hospitalar do Porto, Largo Prof. Abel Salazar, 4099-001 Porto, Portugal.

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http://dx.doi.org/10.1016/j.seizure.2014.12.005DOI Listing
February 2015

Novel Mutation in a Hispanic Subject Affected by Ataxia with Oculomotor Apraxia Type 1.

Mov Disord Clin Pract 2015 Mar 10;2(1):90-92. Epub 2014 Dec 10.

Translational Neuropharmacology Clinical Neuroscience Center for Molecular Medicine Karolinska Institutet Stockholm Sweden.

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http://doi.wiley.com/10.1002/mdc3.12112
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http://dx.doi.org/10.1002/mdc3.12112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6183453PMC
March 2015

Embryonic cerebrospinal fluid in brain development: neural progenitor control.

Croat Med J 2014 Aug;55(4):299-305

Ángel Gato Casado, Departamento de Anatomía y Radiología, Facultad de Medicina, Universidad de Valladolid, C/ Ramón y Cajal 7, E-47005-Valladolid, Spain,

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157377PMC
http://dx.doi.org/10.3325/cmj.2014.55.299DOI Listing
August 2014

The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal.

Headache 2014 May 30;54(5):911-5. Epub 2013 Oct 30.

Hospital de Santo António, CHP - Centro Hospitalar do Porto, Porto, Portugal; ICBAS - Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1111/head.12260DOI Listing
May 2014

Familial hemiplegic migraine due to L263V SCN1A mutation: discordance for epilepsy between two kindreds from Douro Valley.

Cephalalgia 2014 Oct 19;34(12):1015-20. Epub 2014 Mar 19.

Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Portugal Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Portugal Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, Portugal.

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http://dx.doi.org/10.1177/0333102414527015DOI Listing
October 2014

Poly(3-hexylthiophene) nanowires in porous alumina: internal structure under confinement.

Soft Matter 2014 May 18;10(18):3335-46. Epub 2014 Mar 18.

Instituto de Microelectrónica de Madrid (IMM-CSIC), Calle de Isaac Newton 8, Tres Cantos, 28760 Madrid, Spain.

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http://dx.doi.org/10.1039/c3sm52378kDOI Listing
May 2014

Monozygotic twin sisters discordant for familial hemiplegic migraine.

J Headache Pain 2013 Sep 16;14:77. Epub 2013 Sep 16.

Serviço de Neurologia, Departamento de Neurociências, Hospital de Santo António (HSA), Centro Hospitalar do Porto (CHP), Largo Prof, Abel Salazar, 4099-001 Porto, Portugal.

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http://dx.doi.org/10.1186/1129-2377-14-77DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848118PMC
September 2013

Effect of structure and interlayer diffusion in organic position sensitive photodetectors based on complementary wedge donor/acceptor layers.

J Nanosci Nanotechnol 2013 Jul;13(7):5148-53

Instituto Madrileño de Estudios Avanzados en Nanociencia (IMDEA-Nanociencia), Cantoblanco, 28049-Madrid, Spain.

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http://dx.doi.org/10.1166/jnn.2013.7503DOI Listing
July 2013

Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study.

JAMA Neurol 2013 Jun;70(6):746-55

UnIGENe and Centro de Genetica Preditiva e Preventiva, Institute for Molecular and Cell Biology, Centro Hospitalar do Porto, Porto, Hospital de Sao Sebastiao, Centro Hospitalar de entre Douro e Vouga, Santa Maria da Feira, Portugal.

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http://dx.doi.org/10.1001/jamaneurol.2013.1707DOI Listing
June 2013

BDNF and CGRP interaction: implications in migraine susceptibility.

Cephalalgia 2010 Nov 10;30(11):1375-82. Epub 2010 May 10.

Department Estudos de Populações, ICBAS, Universidade do Porto, Centro Hospitalar do Porto-Hospital de Santo António, Portugal.

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http://dx.doi.org/10.1177/0333102410368443DOI Listing
November 2010

Sensory neuronopathy in ataxia with oculomotor apraxia type 2.

J Neurol Sci 2010 Nov 24;298(1-2):118-20. Epub 2010 Sep 24.

Service of Neurology, Hospital Universitario Miguel Servet, Zaragoza, Spain.

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http://dx.doi.org/10.1016/j.jns.2010.09.004DOI Listing
November 2010

Evidence of syntaxin 1A involvement in migraine susceptibility: a Portuguese study.

Arch Neurol 2010 Apr;67(4):422-7

Instituto Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1001/archneurol.2010.37DOI Listing
April 2010

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2).

Am J Med Genet B Neuropsychiatr Genet 2010 Mar;153B(2):524-531

UnIGENe, IBMC-Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1002/ajmg.b.31013DOI Listing
March 2010

The spatial learning phenotype of heterozygous leaner mice is robust to systematic variation of the housing environment.

Comp Med 2009 Apr;59(2):129-38

Laboratory Animal Science, Faculdade de Medicina, Universidade do Porto, Porto, Portugal.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703144PMC
April 2009

Levels of VEGF-A mRNA in plasma from patients with colorectal carcinoma as possible surrogate marker of angiogenesis.

J Cancer Res Clin Oncol 2008 Nov 7;134(11):1165-71. Epub 2008 May 7.

Department of Medical Oncology, Hospital Universitario Puerta de Hierro, C/San Martín de Porres, 4, 28035, Madrid, Spain.

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http://dx.doi.org/10.1007/s00432-008-0405-3DOI Listing
November 2008

Genomic profiling of circulating plasma RNA for the analysis of cancer.

Clin Chem 2007 Oct 23;53(10):1860-3. Epub 2007 Aug 23.

Spanish National Cancer Research Centre (CNIO), Madrid, Spain.

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http://dx.doi.org/10.1373/clinchem.2007.089201DOI Listing
October 2007

Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant.

Neurobiol Aging 2008 Nov 21;29(11):1733-43. Epub 2007 May 21.

UnIGENe, IBMC, Universidade do Porto, Portugal; ICBAS, Universidade do Porto, Portugal.

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http://linkinghub.elsevier.com/retrieve/pii/S019745800700166
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http://dx.doi.org/10.1016/j.neurobiolaging.2007.04.005DOI Listing
November 2008

E-cadherin and vitamin D receptor regulation by SNAIL and ZEB1 in colon cancer: clinicopathological correlations.

Hum Mol Genet 2005 Nov 3;14(22):3361-70. Epub 2005 Oct 3.

Department of Medical Oncology, Hospital Universitario Puerta de Hierro, Madrid, Spain.

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http://dx.doi.org/10.1093/hmg/ddi366DOI Listing
November 2005

A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14.

J Hum Genet 2005 28;50(10):523-529. Epub 2005 Sep 28.

UnIGENe, IBMC, University of Porto, Rua do Campo Alegre, 823, 4150-180, Porto, Portugal.

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http://www.nature.com/doifinder/10.1007/s10038-005-0287-z
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http://dx.doi.org/10.1007/s10038-005-0287-zDOI Listing
February 2006