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Quintáns, Beatriz
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Online (80)
Mediatypes
Articles (Online) (34)
OpenAccess-fulltext (46)
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1
Tract-specific damage at spinal cord level in pure heredita..:
Navas-Sánchez, Francisco J.
;
Marcos-Vidal, Luis
;
de Blas, Daniel Martín
...
Journal of Neurology. 269 (2022) 6 - p. 3189-3203 , 2022
Link:
https://doi.org/10.1007/..
?
2
Genetic landscape of Segawa disease in Spain. Long-term tre..:
Fernández-Ramos, Joaquín A.
;
De la Torre-Aguilar, María José
;
Quintáns, Beatriz
...
Parkinsonism & Related Disorders. 94 (2022) - p. 67-78 , 2022
Link:
https://doi.org/10.1016/..
?
3
Thalamic atrophy in patients with pure hereditary spastic p..:
Navas-Sánchez, Francisco J.
;
Fernández-Pena, Alberto
;
Martín de Blas, Daniel
...
Journal of Neurology. 268 (2021) 7 - p. 2429-2440 , 2021
Link:
https://doi.org/10.1007/..
?
4
Chimeric Peptide Species Contribute to Divergent Dipeptide ..:
McEachin, Zachary T.
;
Gendron, Tania F.
;
Raj, Nisha
...
Neuron. 107 (2020) 2 - p. 292-305.e6 , 2020
Link:
https://doi.org/10.1016/..
?
5
Prevalence of spinocerebellar ataxia 36 in a US population ..:
Valera, Juliana
;
Diaz, Tatyana
;
Petty, Lauren
...
Neurology. 90 (2018) 15_supplement - p. , 2018
Link:
https://doi.org/10.1212/..
?
6
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding ..:
Seixas, Ana I.
;
Loureiro, Joana R.
;
Costa, Cristina
...
The American Journal of Human Genetics. 101 (2017) 1 - p. 87-103 , 2017
Link:
https://doi.org/10.1016/..
?
7
Synaptotagmin XI in Parkinson's disease: New evidence from ..:
Sesar, Angel
;
Cacheiro, Pilar
;
López-López, Marisol
...
Journal of the Neurological Sciences. 362 (2016) - p. 321-325 , 2016
Link:
https://doi.org/10.1016/..
?
8
PET and MRI detection of early and progressive neurodegener..:
Aguiar, Pablo
;
Pardo, Julio
;
Arias, Manuel
...
Movement Disorders. 32 (2016) 2 - p. 264-273 , 2016
Link:
https://doi.org/10.1002/..
?
9
Clinical and Neuropathological Features of Spastic Ataxia i..:
Bettencourt, Conceição
;
de Yébenes, Justo García
;
López-Sendón, José Luis
...
The Cerebellum. 14 (2015) 3 - p. 378-381 , 2015
Link:
https://doi.org/10.1007/..
?
10
Mutations in XPR1 cause primary familial brain calcificatio..:
Legati, Andrea
;
Giovannini, Donatella
;
Nicolas, Gaël
...
Nature Genetics. 47 (2015) 6 - p. 579-581 , 2015
Link:
https://doi.org/10.1038/..
?
11
No evidence of association between common European mitochon..:
Fachal, Laura
;
Mosquera‐Miguel, Ana
;
Pastor, Pau
...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 168 (2014) 1 - p. 54-65 , 2014
Link:
https://doi.org/10.1002/..
?
12
Adrenomyeloneuropathy Diagnosed in a Young Female with Spas..:
Garcia, Tania
;
Ordoñez Ugalde, A
;
Quintans, Beatriz
...
Neurology. 82 (2014) 10_supplement - p. , 2014
Link:
https://doi.org/10.1212/..
?
13
Mutations in SLC20A2 are a major cause of familial idiopath..:
Hsu, Sandy Chan
;
Sears, Renee L.
;
Lemos, Roberta R.
...
neurogenetics. 14 (2013) 1 - p. 11-22 , 2013
Link:
https://doi.org/10.1007/..
?
14
Revisiting genotype-phenotype overlap in neurogenetics: Tri..:
Bettencourt, Conceição
;
Quintáns, Beatriz
;
Ros, Raquel
...
Human Mutation. 33 (2012) 9 - p. 1315-1323 , 2012
Link:
https://doi.org/10.1002/..
?
15
Mutations in SLC20A2 link familial idiopathic basal ganglia..:
Wang, Cheng
;
Li, Yulei
;
Shi, Lei
...
Nature Genetics. 44 (2012) 3 - p. 254-256 , 2012
Link:
https://doi.org/10.1038/..
1-15