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María-Jesús Sobrido

Research Profile

Physiology

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Spain

Chemicals & Drugs

Genes & Molecular Sequences

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Anatomy

Chromosomes, Human, Pair 8

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Publications

TOP 3
Ana M Ramos-Leví; María-Jesús Sobrido; Patricia Blanco-Arias; José M Cabezas-Agrícola; Angel Díaz-Pérez; Samuel I Pascual-Pascual; Sergio Piñeiro-Hermida; David Araújo-Vilar
Axonal neuropathy, long limbs and bumpy tongue: think of MEN2B.
Cèlia Sintas; María-Jesús Sobrido; Pilar Cacheiro; Oriel Carreño; Jèssica Fernández-Morales; Alfons Macaya; Bernat Narberhaus; Patricia Pozo-Rosich; Bru Cormand
A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample.
María-Jesús Sobrido; Pilar Cacheiro; Angel Carracedo; Lars Bertram
Databases for neurogenetics: introduction, overview, and challenges.

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All Publications

2012: Ana M Ramos-Leví; María-Jesús Sobrido; Patricia Blanco-Arias; José M Cabezas-Agrícola; Angel Díaz-Pérez; Samuel I Pascual-Pascual; Sergio Piñeiro-Hermida; David Araújo-Vilar
Axonal neuropathy, long limbs and bumpy tongue: think of MEN2B.
Muscle & nerve 2012;46(6):961-4.
2012: Cèlia Sintas; María-Jesús Sobrido; Pilar Cacheiro; Oriel Carreño; Jèssica Fernández-Morales; Alfons Macaya; Bernat Narberhaus; Patricia Pozo-Rosich; Bru Cormand
A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample.
Cephalalgia : an international journal of headache 2012;32(14):1076-80.
2012: María-Jesús Sobrido; Pilar Cacheiro; Angel Carracedo; Lars Bertram
Databases for neurogenetics: introduction, overview, and challenges.
Human mutation 2012;33(9):1311-4.
2012: Conceição Bettencourt; Justo García de Yébenes; Samuel Ignacio Pascual; Beatriz Quintáns; Raquel Ros; Israel Ampuero; Zuleima Yáñez; María-Jesús Sobrido
Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.
Human mutation 2012;33(9):1315-23.
2012: Jijun Wan; Michael Yourshaw; Klaus Zerres; Manuel Castro-Gago; Zugen Chen; David Chitayat; Luitgard Graul-Neumann; Ji Eun Hong; Ronald C Kim; Andrew J Kornberg; Derek W Leong; Hafsa Mamsa; Manoj P Menezes; Stanley F Nelson; Sabine Rudnik-Schöneborn; Monique M Ryan; Noriko Salamon; Michael S Salman; Masafumi Sanefuji; Pavel Seeman; Jan Senderek; Perry B Shieh; María-Jesús Sobrido; Harry V Vinters; Arpad von Moers; Joanna C Jen
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.
Nature genetics 2012;44(6):704-8.
2012: María García-Murias; María J Millán; Ramón Moreira; Julio Pardo; Beatriz Quintáns; Francisco Rodríguez-Trelles; Ana I Seixas; Jorge Sequeiros; Isabel Silveira; Manuel Arias; Susana Arias-Rivas; Patricia Blanco-Arias; Pilar Cacheiro; Angel Carracedo; Dolores Dapena; Rosa Tarrío; María-Jesús Sobrido
'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.
Brain : a journal of neurology 2012;135(Pt 5):1423-35.
2012: Cheng Wang; Junhan Wang; Lianqing Wang; Qing K Wang; Tao Wang; Haibo Xu; Jing Yao; Lu Zhang; Xue Zhang; Xiang-Yang Zhang; Miguel Baquero; Xiaoniu Cui; Xiaohua Dai; João R M de Oliveira; Shenglei Feng; Ian C Forster; Yong Gao; Yulei Li; Juan Liu; Mugen Liu; Hongying Ma; Xixiang Ma; Monica Patti; Beatriz Quintáns; Jie Ren; Lei Shi; María-Jesús Sobrido; Jing-Yu Liu
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
Nature genetics 2012;44(3):254-6.
2011: Saida Ortolano; Rosa Tarrío; Patricia Blanco-Arias; Susana Teijeira; Francisco Rodríguez-Trelles; María García-Murias; Valerie Delague; Nicolas Lévy; José M Fernández; Beatriz Quintáns; Beatriz San Millán; Angel Carracedo; Carmen Navarro; María-Jesús Sobrido
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.
Neuromuscular disorders : NMD 2011;21(4):254-62.
2011: B Quintáns; A Carracedo; M Fernández Prieto; María-Jesús Sobrido
Genetic counselling in neurology: a complex problem that requires regulation.
Neurología (Barcelona, Spain) 2011;26(3):129-36.
2011: B Quintáns; J Pardo; B Campos; F Barros; V Volpini; Angel Carracedo; María-Jesús Sobrido
Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing.
Case reports in neurology 2011;3():86-90.
2010: M R J Kohonen-Corish; Jumana Y Al-Aama; Arleen D Auerbach; Myles Axton; Carol Isaacson Barash; Inge Bernstein; Christophe Béroud; John Burn; Fiona Cunningham; Garry R Cutting; Johan T den Dunnen; Marc S Greenblatt; Jim Kaput; Michael Katz; Annika Lindblom; Finlay Macrae; Donna Maglott; Gabriela Möslein; Sue Povey; Raj Ramesar; Sue Richards; Daniela Seminara; María-Jesús Sobrido; Sean V Tavtigian; Graham Taylor; Mauno Vihinen; Ingrid Winship; Richard G H Cotton
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.
Human mutation 2010;31(12):1374-81.
2010: R Corominas; María-Jesús Sobrido; Marta Ribasés; E Cuenca-León; P Blanco-Arias; B Narberhaus; Manuel Roig; R Leira; J López-González; Alfons Macaya; Bru Cormand
Association study of the serotoninergic system in migraine in the Spanish population.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010;153B(1):177-84.
2009: Richard G H Cotton; Aida I Al Aqeel; Fahd Al-Mulla; Paola Carrera; Mireille Claustres; Rosemary Ekong; Valentine J Hyland; Finlay A Macrae; Makia J Marafie; Mark H Paalman; George P Patrinos; Ming Qi; Rajkumar S Ramesar; Rodney J Scott; Rolf H Sijmons; María-Jesús Sobrido; Mauno Vihinen
Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(12):843-9.
2009: Patricia Blanco-Arias; Anja P Einholm; Hafsa Mamsa; Carla Concheiro; Hugo Gutierrez de teran; Jesús Romero; Mads S Toustrup-Jensen; Angel Carracedo; Joanna C Jen; Bente Vilsen; María-Jesús Sobrido
A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism.
Human molecular genetics 2009;18(13):2370-7.
2009: Roser Corominas; Marta Ribases; Montserrat Camiña; Ester Cuenca-León; Julio Pardo; Susana Boronat; María-Jesús Sobrido; Bru Cormand; Alfons Macaya
Two-stage case-control association study of dopamine-related genes and migraine.
BMC medical genetics 2009;10():95.
2008: Richard G H Cotton; Arleen D Auerbach; Myles Axton; Carol Isaacson Barash; Samuel F Berkovic; Anthony J Brookes; John Burn; Garry R Cutting; Johan T den Dunnen; Paul Flicek; Nelson Freimer; Marc S Greenblatt; Heather J Howard; Michael Katz; Finlay A Macrae; Donna Maglott; Gabriela Möslein; Sue Povey; Rajkumar S Ramesar; Carolyn S (Sue) Richards; Daniela Seminara; Timothy D Smith; María-Jesús Sobrido; Jan Helge Solbakk; Rudolph E Tanzi; Sean V Tavtigian; Graham Taylor; Joji Utsunomiya; Michael Watson
GENETICS. The Human Variome Project.
Science (New York, N.Y.) 2008;322(5903):861-2.
2006: Manuel Arias; Julio Pardo; Patricia Blanco-Arias; María-Jesús Sobrido; Susana Arias; Dolores Dapena; Angel Carracedo; Lev G Goldfarb; Carmen Navarro
Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.
Neuromuscular disorders : NMD 2006;16(8):498-503.
2004: Ana Vega; Antonio Salas; Elena Gamborino; María-Jesús Sobrido; Vincent Macaulay; Angel Carracedo
mtDNA mutations in tumors of the central nervous system reflect the neutral evolution of mtDNA in populations.
Oncogene 2004;23(6):1314-20.
2001: Ana Vega; María-Jesús Sobrido; Clara Ruiz-Ponte; F Barros; Angel Carracedo
Rare HRAS1 alleles are a risk factor for the development of brain tumors.
Cancer 2001;92(11):2920-6.
2001: C Rodriguez-Pereira; J M Suarez-Peñaranda; F Barros; María-Jesús Sobrido; M Vazquez-Salvado; J Forteza
Analysis of 2 antiapoptotic factors in gliomas: bcl-2 overexpression and p53 mutations.
Archives of pathology & laboratory medicine 2001;125(2):218-23.
2000: C Rodríguez-Pereira; José Manuel Suárez-Peñaranda; M Vázquez-Salvado; María-Jesús Sobrido; M Abraldes; F Barros; J Forteza
Value of MIB-1 labelling index (LI) in gliomas and its correlation with other prognostic factors. A clinicopathologic study.
Journal of neurosurgical sciences 2000;44(4):203-9; discussion 209-10.
2000: María-Jesús Sobrido; C R Pereira; F Barros; J Forteza; Angel Carracedo; Manuela Lema
Low frequency of replication errors in primary nervous system tumours.
Journal of neurology, neurosurgery, and psychiatry 2000;69(3):369-75.
2000: María-Jesús Sobrido; F Barros; Manuela Lema; C Rodriguez-Pereira; J Forteza; Angel Carracedo
Assessing microsatellite instability with semiautomated fluorescent technology: application to the analysis of primary brain tumors.
Electrophoresis 2000;21(8):1471-7.
1997: José M Prieto; H Pardellas; María-Jesús Sobrido; Manuela Lema; Dolores Dapena; A Castro
[Familial strio-pallido++-dentate calcification].
Revista de neurologia 1997;25(144):1213-5.