María Jesús Sobrido

Author

María Jesús Sobrido

Fundación Pública Galega de Medicina Xenómica

Also Known As

Maria J Sobrido, Maria J. Sobrido, Maria Jesus Sobrido, María J Sobrido, María J. Sobrido, María Jesús Sobrido

Publications

813

Citations

H-Index

Concepts

All Affiliations

Fundación Pública Galega de Medicina Xenómica Centre for Biomedical Network Research on Rare Diseases Universidade de Santiago de Compostela Instituto de Salud Carlos III Complejo Hospitalario Universitario de Santiago

About

María Jesús Sobrido is an author at Fundación Pública Galega de Medicina Xenómica specializing in medicine, genetics, and molecular neuroscience.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	548
2	Health Sciences	2	2	81
3	Social Sciences	1	1	324
4	Molecular Biology	1	1	143
5	Molecular Genetics	1	1	143

María Jesús Sobrido

Publications

745

Citations

H-Index

Page 1

	Year	Citations
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice Annika Keller, Ana Westenberger, María Jesús Sobrido, Nature Genetics Molecular NeuroscienceNeurologyNeuroscienceBrain PathologyMolecular Neurobiology	2013	324
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia Ana I. Seixas, Joana R. Loureiro, Cristina Costa, The American Journal of Human Genetics Neurodegenerative DiseasesMolecular NeuroscienceGenetic DisorderGeneticsMolecular Biology	2017	143
‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization María García-Murias, Beatriz Quintáns, Manuel Arias, Brain	2012	93
mtDNA mutations in tumors of the central nervous system reflect the neutral evolution of mtDNA in populations Ana Vega, Antonio Salas, Elena Gamborino, Oncogene Neuro-oncologyGenome InstabilityNeutral EvolutionSomatic VariantTumor Heterogeneity	2003	48
Neurophysiological study in cerebrotendinous xanthomatosis Belén Pilo, Gema de Blas, María Jesús Sobrido, Muscle & Nerve Clinical SymptomsNeurological DisorderNeurophysiological StudyClinical NeurologyCommon Neurological Disorders	2011	33
Prevalence of spinocerebellar ataxia 36 in a US population Juliana M. Valera, Tatyana Diaz, Lauren E. Petty, Neurology Genetics	2017	25
Impaired proteasome activity and neurodegeneration with brain iron accumulation in <i>FBXO7</i> defect Marta Correa‐Vela, Vincenzo Lupo, Marta Montpeyó, Annals of Clinical and Translational Neurology	2020	25
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying <i>MME</i> mutations Vincenzo Lupo, Marina Frasquet, Ana Sánchez‐Monteagudo, Journal of Medical Genetics	2018	24
Brain calcifications and <i>PCDH12</i> variants Gaël Nicolas, Mónica Sánchez-Contreras, Eliana Marisa Ramos, Neurology Genetics	2017	18
Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of cerebrotendinous xanthomatosis M. Taboada, D. Martínez, Belén Pilo, BMC Medical Informatics and Decision Making	2012	12

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