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M. Sobrido · SciRah

Researcher profile · Semantic Scholar

M. Sobrido

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M. Sobrido — researcher profile on SciRah

h-index: 35
Works: 127
Citations: 4,112

Most-cited papers

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
Cheng Wang, Yu-Lei Li, Lei Shi, Jie Ren +24 more
2012Nature Genetics400 citations
Semantic Scholar
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
Annika Keller, A. Westenberger, M. Sobrido, M. García-Murias +45 more
2013Nature Genetics307 citations Open access
Semantic Scholar
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
A. Legati, D. Giovannini, G. Nicolas, Uriel López-Sánchez +37 more
2015Nature Genetics300 citations Open access
Semantic Scholar
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
Ji-Jun Wan, Michael Yourshaw, H. Mamsa, S. Rudnik-Schöneborn +22 more
2012Nature Genetics263 citations Open access
Semantic Scholar
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
S. Hsu, R. Sears, R. Lemos, B. Quintáns +48 more
2013Neurogenetics139 citations Open access
Semantic Scholar
Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey
B. Pilo‐de‐la‐Fuente, A. Jiménez-Escrig, J. R. Lorenzo, J. Pardo +5 more
2011European Journal of Neurology137 citations
Semantic Scholar
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
A. Seixas, Joana R. Loureiro, C. Costa, A. Ordóñez-Ugalde +17 more
2017American Journal of Human Genetics134 citations Open access
Semantic Scholar
Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide
A. García-Redondo, O. Dols-Icardo, R. Rojas-García, J. Esteban-Pérez +51 more
2013Human Mutation100 citations Open access
Semantic Scholar
‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization
M. García-Murias, B. Quintáns, M. Arias, A. Seixas +13 more
2012Brain : a journal of neurology97 citations Open access
Semantic Scholar
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Philip M. Boone, Bo Yuan, I. Campbell, J. Scull +19 more
2014American Journal of Human Genetics96 citations Open access
Semantic Scholar
SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population
Oriel Carreño, R. Corominas, J. Fernández-Morales, M. Camiña +5 more
2012American Journal of Medical Genetics Part B: Neuropsychiatric Genetics73 citations Open access
Semantic Scholar
A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism.
P. Blanco-Arias, A. P. Einholm, H. Mamsa, Carla Concheiro +7 more
2009Human Molecular Genetics71 citations
Semantic Scholar
Chimeric peptide species contribute to divergent dipeptide repeat pathology in c9ALS/FTD and SCA36
Zachary T. McEachin, Tania F. Gendron, N. Raj, M. García-Murias +31 more
2020Neuron65 citations Open access
Semantic Scholar
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy.
S. Ortolano, R. Tarrío, P. Blanco-Arias, S. Teijeira +10 more
2011Neuromuscular Disorders56 citations Open access
Semantic Scholar
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Mohammad Ali Farazi Fard, A. Rebelo, Elena Buglo, H. Nemati +38 more
2019American Journal of Human Genetics49 citations Open access
Semantic Scholar
Primary familial brain calcifications.
B. Quintáns, J. Oliveira, M. Sobrido
2014Handbook of Clinical Neurology48 citations
Semantic Scholar
Automated semantic annotation of rare disease cases: a case study
M. Taboada, Hadriana Rodríguez, D. Martínez, María Pardo +1 more
2014Database J. Biol. Databases Curation48 citations Open access
Semantic Scholar
Association study of the serotoninergic system in migraine in the spanish population
R. Corominas, M. Sobrido, M. Ribasés, E. Cuenca-León +7 more
2009American Journal of Medical Genetics Part B: Neuropsychiatric Genetics48 citations
Semantic Scholar
Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo
Tiffany W. Todd, Zachary T. McEachin, Jeannie Chew, Alexander R. Burch +19 more
2020Cell Reports44 citations Open access
Semantic Scholar
Relationship between Intracellular Na+ Concentration and Reduced Na+ Affinity in Na+,K+-ATPase Mutants Causing Neurological Disease*
Mads S. Toustrup-Jensen, A. P. Einholm, Vivien R. Schack, Hang N. Nielsen +5 more
2013Journal of Biological Chemistry44 citations Open access
Semantic Scholar
No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population
L. Fachal, A. Mosquera-Miguel, P. Pastor, S. Ortega-Cubero +9 more
2015American Journal of Medical Genetics Part B: Neuropsychiatric Genetics42 citations
Semantic Scholar
PLA2G6 MUTATIONS ASSOCIATED WITH A CONTINUOUS CLINICAL SPECTRUM FROM NEUROAXONAL DYSTROPHY TO HEREDITARY SPASTIC PARAPLEGIA
Burcak Ozes, Nazan Karagöz, R. Schüle, A. Rebelo +13 more
2017Clinical Genetics40 citations Open access
Semantic Scholar
How to Catch All Those Mutations—The Report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010
M. Kohonen-Corish, Jumana Y. Alaama, Arleen D. Auerbach, M. Axton +24 more
2010Human Mutation39 citations Open access
Semantic Scholar
Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1
C. Bettencourt, J. G. de Yébenes, J. López-Sendón, O. Shomroni +12 more
2015Cerebellum38 citations Open access
Semantic Scholar
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)
S. Povey, A. al Aqeel, A. Cambon-Thomsen, R. Dalgleish +10 more
2010Human Mutation37 citations Open access
Semantic Scholar
Medical genomics: The intricate path from genetic variant identification to clinical interpretation
B. Quintáns, A. Ordóñez-Ugalde, P. Cacheiro, Á. Carracedo +1 more
2014Applied and Translational Genomics34 citations Open access
Semantic Scholar
Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia
C. Bettencourt, J. López-Sendón, J. García-Caldentey, P. Rizzu +8 more
2014Clinical Genetics32 citations
Semantic Scholar
Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies
Oriel Carreño, R. Corominas, S. Serra, C. Sintas +12 more
2013Molecular Genetics & Genomic Medicine30 citations Open access
Semantic Scholar
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
M. Correa-Vela, V. Lupo, Marta Montpeyo, P. Sancho +14 more
2020Annals of Clinical and Translational Neurology28 citations Open access
Semantic Scholar
Neurophysiological study in cerebrotendinous xanthomatosis
B. Pilo, G. de Blas, M. Sobrido, C. Navarro +4 more
2011Muscle and Nerve28 citations Open access
Semantic Scholar
PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36
P. Aguiar, J. Pardo, M. Arias, B. Quintáns +7 more
2017Movement Disorders25 citations
Semantic Scholar
Prevalence of parkinsonism and Parkinson's disease in the Arosa Island (Spain): a community-based door-to-door survey.
M. Seijo-Martínez, M. D. del Río, J. R. Alvarez, R. Prado +3 more
2011Journal of Neurological Sciences25 citations Open access
Semantic Scholar
Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing
B. Quintáns, J. Pardo, B. Campos, F. Barros +3 more
2011Case Reports in Neurology25 citations Open access
Semantic Scholar
Screening of cacna1a and ATP1A2 genes in hemiplegic migraine: clinical, genetic and functional studies
C. Sintas, Oriel Carreño, R. Corominas, S. Serra +11 more
2013The Journal of Headache and Pain24 citations Open access
Semantic Scholar
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations
V. Lupo, M. Frasquet, Ana Sánchez-Monteagudo, A. Pelayo-Negro +12 more
2018Journal of Medical Genetics23 citations Open access
Semantic Scholar
Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico.
Á. Sesar, Pilar Cacheiro, M. López-López, Montserrat Camiña-Tato +10 more
2016Journal of Neurological Sciences23 citations
Semantic Scholar
Prevalence of spinocerebellar ataxia 36 in a US population
Juliana M. Valera, T. Diaz, L. Petty, B. Quintáns +12 more
2017Neurology: Genetics22 citations Open access
Semantic Scholar
De novo and dominantly inherited SPTAN1 mutations cause Spastic Paraplegia and Cerebellar Ataxia
L. Van de Vondel, J. De Winter, D. Beijer, Giulia Coarelli +34 more
2022Movement Disorders21 citations Open access
Semantic Scholar
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
M. Sobrido, P. Bauer, T. D. de Koning, T. Klopstock +4 more
2019Orphanet Journal of Rare Diseases21 citations Open access
Semantic Scholar
Brain calcifications and PCDH12 variants
G. Nicolas, Monica Sanchez-Contreras, E. Ramos, R. Lemos +19 more
2017Neurology: Genetics18 citations Open access
Semantic Scholar
[Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis].
B. Pilo de la Fuente, M. Sobrido, M. Girós, L. Pozo +5 more
2011Neurología18 citations Open access
Semantic Scholar
Zebrafish Models of Autosomal Dominant Ataxias
A. Quelle-Regaldie, D. Sobrido-Cameán, A. Barreiro-Iglesias, M. Sobrido +1 more
2021Cells16 citations Open access
Semantic Scholar
Restless Legs Syndrome in Non-Dialysis Renal Patients: Is It Really That Common?
J. Calviño, S. Cigarrán, L. M. López, Agustín Martínez +1 more
2015Journal of Clinical Sleep Medicine (JCSM)16 citations Open access
Semantic Scholar
Revisiting genotype–phenotype overlap in neurogenetics: Triplet‐repeat expansions mimicking spastic paraplegias
C. Bettencourt, B. Quintáns, R. Ros, I. Ampuero +4 more
2012Human Mutation16 citations Open access
Semantic Scholar
SNOMED CT module-driven clinical archetype management
J. L. Allones, M. Taboada, D. Martínez, R. Lozano +1 more
2013Journal of Biomedical Informatics15 citations Open access
Semantic Scholar
A nop56 Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype
A. Quelle-Regaldie, M. Folgueira, J. Yáñez, D. Sobrido-Cameán +4 more
2022Biomedicines12 citations Open access
Semantic Scholar
Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease.
T. García-Sobrino, P. Blanco-Arias, F. Palau, C. Espinós +6 more
2017Neuromuscular Disorders12 citations
Semantic Scholar
A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample
C. Sintas, Oriel Carreño, J. Fernández-Morales, Pilar Cacheiro +5 more
2012Cephalalgia12 citations Open access
Semantic Scholar
Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of cerebrotendinous xanthomatosis
M. Taboada, D. Martínez, B. Pilo, A. Jiménez-Escrig +2 more
2012BMC Medical Informatics and Decision Making12 citations Open access
Semantic Scholar
Axonal neuropathy, long limbs and bumpy tongue: Think of MEN2B
A. Ramos-Leví, A. Díaz-Pérez, M. Sobrido, S. Piñeiro-Hermida +4 more
2012Muscle and Nerve12 citations
Semantic Scholar

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