B. Quintáns

发表

Medical genomics: The intricate path from genetic variant identification to clinical interpretation

A. Carracedo, Á. Carracedo, M. Sobrido, 2014, Applied & translational genomics.

Genetic counselling in neurology: a complex problem that requires regulation.

Á. Carracedo, M. Sobrido, B. Quintáns, 2011 .

Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants

Á. Carracedo, F. Grandas, J. Amigo, 2017, Molecular Diagnosis & Therapy.

Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study

M. Desco, Y. Alemán-Gómez, F. Grandas, 2022, Journal of Neurology.

Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes.

R. Artuch, P. Mir, J. Hernández-Vara, 2021, Parkinsonism & related disorders.

[Behavioral disorders in Parkinson's disease. Genetic, pharmacological and medico-legal aspects].

M. Sobrido, B. Quintáns, J. J. Días-Silva, 2009, Revista de neurologia.

Prevalence of spinocerebellar ataxia 36 in a US population

D. Geschwind, J. Lupski, R. Gibbs, 2017, Neurology: Genetics.

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

Mugen Liu, M. Sobrido, Haibo Xu, 2012, Nature Genetics.

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

J. López-Sendón, P. Heutink, S. Jain, 2015, Cerebellum.

Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36

Chadwick M. Hales, L. Petrucelli, D. Dickson, 2020, Neuron.

The use of the LightCycler for the detection of Y chromosome SNPs.

Á. Carracedo, J. Puente, B. Quintáns, 2001, Forensic science international.

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

R. Schüle, M. Synofzik, E. Battaloğlu, 2017, Clinical genetics.

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain.

P. Mir, M. Sobrido, J. Arpa, 2021, Neurologia.

Microgeographic patterns of highly informative Y-chromosome haplotypes (using biallelic markers and STRs) in Galicia (NW Spain): forensic and anthropological implications

A. González-Neira, Á. Carracedo, A. Salas, 2003 .

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.

Á. Carracedo, S. Beleza, P. Sánchez-Diz, 2003, Forensic science international.

‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

Á. Carracedo, M. Sobrido, F. Rodríguez-Trelles, 2012, Brain : a journal of neurology.

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

Patrizia Rizzu, Ángel Carracedo, Peter Heutink, 2017, American journal of human genetics.

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

Á. Carracedo, N. Lévy, M. Sobrido, 2011, Neuromuscular Disorders.

Primary familial brain calcifications.

M. Sobrido, B. Quintáns, J. Oliveira, 2014, Handbook of clinical neurology.

Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing

Á. Carracedo, V. Volpini, M. Sobrido, 2011, Case Reports in Neurology.

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

D. Geschwind, P. Svenningsson, J. Pariente, 2015, Nature Genetics.

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

D. Geschwind, P. Mazzoni, P. Svenningsson, 2013, neurogenetics.

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

P. Stankiewicz, J. Lupski, J. Scull, 2014, American journal of human genetics.

Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing.

Á. Carracedo, A. Salas, C. Phillips, 2004, Forensic science international.

Micro-geographical differentiation in Northern Iberia revealed by Y-chromosomal DNA analysis.

C. Tyler-Smith, A. González-Neira, Á. Carracedo, 2004, Gene.

[A brain tissue bank in a neuropathology laboratory. Basic methodology].

E. Rivas, B. Quintáns, C. Navarro, 2003, Neurologia.

Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4

M. Desco, F. Grandas, Susanna Carmona, 2021, Journal of Neurology.

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia

J. López-Sendón, P. Heutink, P. Rizzu, 2014, Clinical genetics.

New Population and Phylogenetic Features of the Internal Variation within Mitochondrial DNA Macro-Haplogroup R0

Á. Carracedo, L. Pérez-Jurado, A. Salas, 2009, PloS one.

SNaPshot typing of mitochondrial DNA coding region variants.

A. Salas, V. Álvarez-Iglesias, B. Quintáns, 2005, Methods in molecular biology.

Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)

M. Desco, A. Lage-Castellanos, F. Grandas, 2021, Amyotrophic lateral sclerosis & frontotemporal degeneration.

Analysis of the C9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

J. Clarimón, A. Lleó, P. Pástor, 2013, Human mutation.

PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36

Á. Ruibal, M. Sobrido, M. Fernández-Prieto, 2017, Movement disorders : official journal of the Movement Disorder Society.

A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease.

E. Rivas, A. Sánchez-Andrade, B. Quintáns, 2004, Archives of neurology.

Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36)

R. Cruz, M. Sobrido, M. Fernández-Prieto, 2020, The Cerebellum.

Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36)

Á. Carracedo, R. Cruz, M. Sobrido, 2020, The Cerebellum.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Dana M. Bis-Brewer, R. Schüle, M. Tarnopolsky, 2019, American journal of human genetics.

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

J. López-Sendón, P. Heutink, S. Jain, 2015, The Cerebellum.

Revisiting genotype–phenotype overlap in neurogenetics: Triplet‐repeat expansions mimicking spastic paraplegias

M. Sobrido, J. D. de Yébenes, R. Ros, 2012, Human mutation.

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.

Á. Carracedo, J. Riancho, A. Amorim, 2003, Forensic science international.

No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population

P. Pástor, A. Salas, M. Sobrido, 2015, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico

M. Sobrido, M. López-López, M. Camiña-Tato, 2016, Journal of the Neurological Sciences.

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

Dana M. Bis-Brewer, R. Schüle, M. Tarnopolsky, 2019, American Journal of Human Genetics.

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain.

P. Mir, M. Sobrido, J. Arpa, 2019, Neurologia.

Spinocerebellar ataxia type 36

M. Sobrido, M. Arias, B. Quintáns, 2014, Definitions.

Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

J. López-Sendón, P. Heutink, Shu-Bing Qian, 2015, Cerebellum.

Hereditary spastic paraplegia type 4: Description of a family with a new pathogenic SPAST gene variant, c.1156A > C (p.Asn386His)

B. Quintáns, D. A. G. Estévez, Francisco Barros Angueira, 2021, Neurology Perspectives.

Microgeographic substructure of NW Iberian Y chromosome STR haplotypes

Á. Carracedo, A. Salas, A. Amorim, 2004 .

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

P. Heutink, G. Rouleau, P. Rizzu, 2017, American journal of human genetics.

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

S. Züchner, Michael A. Gonzalez, E. Battaloğlu, 2017, Clinical genetics.

Genetic counselling in neurology: a complex problem that requires regulation.

M. Sobrido, M. F. Prieto, B. Quintáns, 2011, Neurologia.