Maria-Jesus Sobrido

Maria-Jesus Sobrido

UNVERIFIED PROFILE

Are you Maria-Jesus Sobrido?   Register this Author

Register author
Maria-Jesus Sobrido

Maria-Jesus Sobrido

Publications by authors named "Maria-Jesus Sobrido"

Are you Maria-Jesus Sobrido?   Register this Author

47Publications

1457Reads

29Profile Views

A note on rotigotine for restless legs syndrome after renal transplantation.

Mov Disord 2019 01;34(1):151-152

Neurogenetics, Instituto de Investigación Sanitaria de Santiago-SERGAS Santiago de Compostela, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.27574DOI Listing
January 2019

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:

View Article

Download full-text PDF

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

Restless Legs Syndrome: An Unresolved Uremic Disorder after Renal Transplantation.

Nephron 2018 1;139(1):23-29. Epub 2018 Feb 1.

Neurogenetics Research Group, Instituto de Investigación Sanitaria de Santiago-SERGAS, Santiago de Compostela, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000486401DOI Listing
February 2018

An ontology-aware integration of clinical models, terminologies and guidelines: an exploratory study of the Scale for the Assessment and Rating of Ataxia (SARA).

BMC Med Inform Decis Mak 2017 Dec 6;17(1):159. Epub 2017 Dec 6.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12911-017-0568-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718136PMC
December 2017

Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease.

Neuromuscul Disord 2017 Jul 17;27(7):667-672. Epub 2017 Jan 17.

Department of Neurology, Hospital Clínico, Santiago de Compostela, Spain; Neurogenetics Research Group, Instituto de Investigaciones Sanitarias (IDIS), Santiago de Compostela, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2017.01.008DOI Listing
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.

View Article

Download full-text PDF

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

Are Functional Assays for Pathogenicity Assessment of Genetic Variants Overrated?

Hum Mutat 2017 01;38(1)

Instituto de Investigación Sanitaria de Santiago, Fundación Galega de Medicina Xenómica and CIBERER, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23143DOI Listing
January 2017

Variations in the Genome: The Mutation Detection 2015 Meeting on Detection, Genome Sequencing, and Interpretation.

Hum Mutat 2016 10 23;37(10):1106-9. Epub 2016 Aug 23.

Neurogenetics Group, Fundación Pública Galega de Medicina Xenómica, Instituto de Investigación Sanitaria de Santiago, Santiago de Compostela, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23022DOI Listing
October 2016

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.

View Article

Download full-text PDF

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

Applied and translational neurogenomics.

Appl Transl Genom 2015 Jun 23;5:1-2. Epub 2015 Jun 23.

Clinical Pharmacology Dept., Menoufia Medical School, Menoufia University, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atg.2015.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745361PMC
June 2015

Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11.

Appl Transl Genom 2015 Jun 26;5:33-6. Epub 2015 Jun 26.

Instituto de Investigación Sanitaria de Santiago-IDIS, Spain; Grupo de Medicina Xenómica, CIBERER, Universidade de Santiago de Compostela, Spain; Fundación Pública Galega de Medicina Xenómica, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atg.2015.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745395PMC
June 2015

Restless legs syndrome in non-dialysis renal patients: is it really that common?

J Clin Sleep Med 2015 Jan 15;11(1):57-60. Epub 2015 Jan 15.

Neurogenetics, Fundación Publica Galega de Medicina Xenómica-SERGAS; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5664/jcsm.4366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4265660PMC
January 2015

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.

View Article

Download full-text PDF

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

Automated semantic annotation of rare disease cases: a case study.

Database (Oxford) 2014 4;2014. Epub 2014 Jun 4.

Department of Electronics & Computer Science, Department of Applied Physics, Campus Vida, University of Santiago de Compostela, Department of Neurology, University Hospital Clinico of Santiago de Compostela and Fundación Pública Galega de Medicina Xenómica-Instituto de Investigación Sanitaria de Santiago (IDIS) and Centro de Investigación Biomédica en red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/database/bau045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4207225PMC
August 2014

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:

View Article

Download full-text PDF

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

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.

Mol Genet Genomic Med 2013 Nov 2;1(4):206-22. Epub 2013 Jul 2.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona Barcelona, Spain ; Institut de Biomedicina de la Universitat de Barcelona (IBUB) Barcelona, Spain ; Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865589PMC
November 2013

Membranous nephropathy, leiomyoma and autoimmune myasthenia: more than a coincidence?

Clin Kidney J 2012 Dec 7;5(6):562-5. Epub 2012 Nov 7.

Department of Neurogenetics , Fundación Publica Galega de Medicina Xenómica-SERGAS and Centre for Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III , Santiago Compostela , Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/ckj/sfs144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4400566PMC
December 2012

Axonal neuropathy, long limbs and bumpy tongue: think of MEN2B.

Muscle Nerve 2012 Dec;46(6):961-4

Division of Endocrinology, Metabolism and Nutrition, Hospital Universitario Clínico San Carlos, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.23466DOI Listing
December 2012

A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample.

Cephalalgia 2012 Oct 20;32(14):1076-80. Epub 2012 Aug 20.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, 08028 Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0333102412457090DOI Listing
October 2012

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.

View Article

Download full-text PDF

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

Databases for neurogenetics: introduction, overview, and challenges.

Hum Mutat 2012 Sep;33(9):1311-4

Fundación Pública Galega de Medicina Xenómica-SERGAS, Santiago de Compostela, Galicia, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22164DOI 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.

View Article

Download full-text PDF

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

SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population.

Am J Med Genet B Neuropsychiatr Genet 2012 Jan 7;159B(1):94-103. Epub 2011 Dec 7.

Facultat de Biologia, Departament de Genètica, Universitat de Barcelona, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.32007DOI Listing
January 2012

Neurophysiological study in cerebrotendinous xanthomatosis.

Muscle Nerve 2011 Apr;43(4):531-6

Neurology Division, Hospital del Sureste, c/ Ronda del Sur s/n, 28500 Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.21905DOI Listing
April 2011

Two-stage case-control association study of dopamine-related genes and migraine.

BMC Med Genet 2009 Sep 21;10:95. Epub 2009 Sep 21.

Grup de Recerca en Neurologia Infantil, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2350-10-95DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2758864PMC
September 2009

Planning the human variome project: the Spain report.

Authors:
Jim Kaput Richard G H Cotton Lauren Hardman Michael Watson Aida I Al Aqeel Jumana Y Al-Aama Fahd Al-Mulla Santos Alonso Stefan Aretz Arleen D Auerbach Bharati Bapat Inge T Bernstein Jong Bhak Stacey L Bleoo Helmut Blöcker Steven E Brenner John Burn Mariona Bustamante Rita Calzone Anne Cambon-Thomsen Michele Cargill Paola Carrera Lawrence Cavedon Yoon Shin Cho Yeun-Jun Chung Mireille Claustres Garry Cutting Raymond Dalgleish Johan T den Dunnen Carlos Díaz Steven Dobrowolski M Rosário N dos Santos Rosemary Ekong Simon B Flanagan Paul Flicek Yoichi Furukawa Maurizio Genuardi Ho Ghang Maria V Golubenko Marc S Greenblatt Ada Hamosh John M Hancock Ross Hardison Terence M Harrison Robert Hoffmann Rania Horaitis Heather J Howard Carol Isaacson Barash Neskuts Izagirre Jongsun Jung Toshio Kojima Sandrine Laradi Yeon-Su Lee Jong-Young Lee Vera L Gil-da-Silva-Lopes Finlay A Macrae Donna Maglott Makia J Marafie Steven G E Marsh Yoichi Matsubara Ludwine M Messiaen Gabriela Möslein Mihai G Netea Melissa L Norton Peter J Oefner William S Oetting James C O'Leary Ana Maria Oller de Ramirez Mark H Paalman Jillian Parboosingh George P Patrinos Giuditta Perozzi Ian R Phillips Sue Povey Suyash Prasad Ming Qi David J Quin Rajkumar S Ramesar C Sue Richards Judith Savige Dagmar G Scheible Rodney J Scott Daniela Seminara Elizabeth A Shephard Rolf H Sijmons Timothy D Smith María-Jesús Sobrido Toshihiro Tanaka Sean V Tavtigian Graham R Taylor Jon Teague Thoralf Töpel Mollie Ullman-Cullere Joji Utsunomiya Henk J van Kranen Mauno Vihinen Elizabeth Webb Thomas K Weber Meredith Yeager Young I Yeom Seon-Hee Yim Hyang-Sook Yoo

Hum Mutat 2009 Apr;30(4):496-510

Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

View Article

Download full-text PDF

Source
http://compbio.berkeley.edu/people/brenner/pubs/kaput-2009-h
Web Search
http://doi.wiley.com/10.1002/humu.20972
Publisher Site
http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 2009

Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.

Neuromuscul Disord 2006 Aug 27;16(8):498-503. Epub 2006 Jun 27.

Department of Neurology, Hospital Clínico Universitario de Santiago de Compostela, Travesía da Choupana s/n, 15706 Santiago de Compostela, Spain.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S096089660600169
Publisher Site
http://dx.doi.org/10.1016/j.nmd.2006.05.011DOI Listing
August 2006

mtDNA mutations in tumors of the central nervous system reflect the neutral evolution of mtDNA in populations.

Oncogene 2004 Feb;23(6):1314-20

Unidad de Medicina Molecular, Hospital Clinico Universitario Universidad de Santiago de Compostela, Galicia, Spain.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/1207214
Publisher Site
http://dx.doi.org/10.1038/sj.onc.1207214DOI Listing
February 2004