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B. Quintáns · SciRah

Researcher profile · Semantic Scholar

B. Quintáns

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B. Quintáns — researcher profile on SciRah

h-index: 21
Works: 49
Citations: 2,200

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 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
Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing.
B. Quintáns, V. Álvarez-Iglesias, Antonio Salas, Christopher Phillips +2 more
2004Forensic Science International202 citations
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
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
New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0
V. Álvarez-Iglesias, A. Mosquera-Miguel, M. Cerezo, B. Quintáns +7 more
2009PLoS ONE97 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
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
Micro-geographical differentiation in Northern Iberia revealed by Y-chromosomal DNA analysis.
M. Brion, B. Quintáns, M. Zarrabeitia, A. González-Neira +4 more
2004Gene43 citations
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
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
SNaPshot typing of mitochondrial DNA coding region variants.
A. Salas, B. Quintáns, V. Álvarez-Iglesias
2005Methods in molecular biology36 citations
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
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
Results of the GEP-ISFG collaborative study on the Y chromosome STRs GATA A10, GATA C4, GATA H4, DYS437, DYS438, DYS439, DYS460 and DYS461: population data.
L. Gusmão, P. Sánchez-Diz, C. Alves, B. Quintáns +16 more
2003Forensic Science International17 citations
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
A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease.
B. Quintáns, A. Sánchez-Andrade, S. Teijeira, R. Fernandez-Hojas +3 more
2004Archives of Neurology15 citations
Semantic Scholar
Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4
F. J. Navas-Sánchez, Alberto Fernández-Pena, Daniel Martín de Blas, Y. Alemán-Gómez +14 more
2021Journal of Neurology11 citations
Semantic Scholar
Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)
F. J. Navas-Sánchez, Daniel Martín De Blas, Alberto Fernández-Pena, Y. Alemán-Gómez +12 more
2021Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration11 citations
Semantic Scholar
Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36)
R. Martínez‐Regueiro, Manuel Arias, R. Cruz, B. Quintáns +7 more
2020Cerebellum10 citations
Semantic Scholar
Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants
Pilar Cacheiro, A. Ordóñez-Ugalde, B. Quintáns, S. Piñeiro-Hermida +7 more
2017Molecular Diagnosis & Therapy9 citations
Semantic Scholar
Population data of Galicia (NW Spain) on the new Y-STRs DYS437, DYS438, DYS439, GATA A10, GATA A7.1, GATA A7.2, GATA C4 and GATA H4.
B. Quintáns, S. Beleza, M. Brion, P. Sánchez-Diz +2 more
2003Forensic Science International9 citations
Semantic Scholar
Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study
F. J. Navas-Sánchez, Luis Marcos-Vidal, D. de Blas, Alberto Fernández-Pena +12 more
2022Journal of Neurology8 citations
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 Genetics8 citations Open access
Semantic Scholar
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain.
M. Arias, P. Mir, Marta Fernández-Matarrubia, J. Arpa +4 more
2019Neurología8 citations Open access
Semantic Scholar
Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes.
J. Fernández-Ramos, M. de la Torre-Aguilar, B. Quintáns, J. Pérez-Navero +2 more
2021Parkinsonism & Related Disorders5 citations Open access
Semantic Scholar
Spinocerebellar ataxia type 36
M. Arias, B. Quintáns, M. García-Murias, M. Sobrido
2014Definitions4 citations Open access
Semantic Scholar
[Behavioral disorders in Parkinson's disease. Genetic, pharmacological and medico-legal aspects].
M. Sobrido, J. J. Días-Silva, B. Quintáns
2009Revista de neurología (Ed. impresa)4 citations
Semantic Scholar
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain.
Manuel Arias, P. Mir, Marta Fernández-Matarrubia, J. Arpa +4 more
2021Neurología3 citations Open access
Semantic Scholar
Genetic counselling in neurology: a complex problem that requires regulation.
B. Quintáns, M. F. Prieto, Angel Carracedo, M. Sobrido
2011Neurología3 citations Open access
Semantic Scholar
Y-chromosome STRs in populations of Bantu origin from Mozambique: male contribution to the Africa genetic pool and forensic implications
P. Sánchez-Diz, T. de la Fé, B. Quintáns, A. Salas +2 more
20033 citations
Semantic Scholar
Genetic counselling in neurology: a complex problem that requires regulation.
B. Quintáns, M. Fernandez, Angel Carracedo, M. Sobrido
20112 citations Open access
Semantic Scholar
Typing mtDNA SNPs of forensic and population interest with snapshot
B. Quintáns, V. Álvarez-Iglesias, A. Salas, M. Lareu +1 more
20042 citations
Semantic Scholar
[A brain tissue bank in a neuropathology laboratory. Basic methodology].
E. Rivas, S. Teijeira, A. Tardío, C. Fachal +2 more
2003Neurología2 citations
Semantic Scholar
Microgeographic patterns of highly informative Y-chromosome haplotypes (using biallelic markers and STRs) in Galicia (NW Spain): forensic and anthropological implications
M. Brion, B. Quintáns, A. González-Neira, M. T. Zarrabeitia +5 more
20032 citations
Semantic Scholar
Correction: New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0
V. Álvarez-Iglesias, A. Mosquera-Miguel, M. Cerezo, B. Quintáns +7 more
2010PLoS ONE1 citations Open access
Semantic Scholar
Hereditary spastic paraplegia type 4: Description of a family with a new pathogenic SPAST gene variant, c.1156A > C (p.Asn386His)
D. G. Estévez, B. Quintáns, N. S. Casado, Francisco Barros Angueira
2021Neurology Perspectives0 citations Open access
Semantic Scholar
Prevalence of spinocerebellar ataxia 36 in a US population (P1.057)
Juliana M. Valera, T. Diaz, L. Petty, B. Quintáns +12 more
2018Neurology0 citations
Semantic Scholar
Adrenomyeloneuropathy Diagnosed in a Young Female with Spastic Paraparesis after Full Exome Sequencing (P2.064)
Tania Garcia, A. Ugalde, B. Quintáns, M. Sobrido +3 more
2014Neurology0 citations
Semantic Scholar
Table 2. [NOP56 Allelic Variants Discussed in This GeneReview].
M. Arias, B. Quintáns, M. García-Murias, M. Sobrido
20140 citations
Semantic Scholar
Table 1. [Summary of Molecular Genetic Testing Used in Spinocerebellar Ataxia Type 36].
M. Arias, B. Quintáns, M. García-Murias, M. Sobrido
20140 citations
Semantic Scholar
Microgeographic substructure of NW Iberian Y chromosome STR haplotypes
S. Beleza, B. Quintáns, A. Salas, A. Amorim +2 more
20040 citations
Semantic Scholar

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