Beatriz Quintans
Overview
Explore the profile of Beatriz Quintans including associated specialties, affiliations and a list of published articles.
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Articles
27
Citations
824
Followers
0
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Recent Articles
1.
Navas-Sanchez F, Marcos-Vidal L, de Blas D, Fernandez-Pena A, Aleman-Gomez Y, Guzman-De-Villoria J, et al.
J Neurol
. 2022 Jan;
269(6):3189-3203.
PMID: 34999956
Background: SPG4 is a subtype of hereditary spastic paraplegia (HSP), an upper motor neuron disorder characterized by axonal degeneration of the corticospinal tracts and the fasciculus gracilis. The few neuroimaging...
2.
Fernandez-Ramos J, De La Torre-Aguilar M, Quintans B, Perez-Navero J, Beyer K, Lopez-Laso E
Parkinsonism Relat Disord
. 2021 Dec;
94:67-78.
PMID: 34890878
Introduction: In 2009, we described a possible founder effect of autosomal dominant Segawa disease in Córdoba (Spain) due to mutation c.265C>T (p. Q89*) in the GCH1 gene. We present a...
3.
Navas-Sanchez F, de Blas D, Fernandez-Pena A, Aleman-Gomez Y, Lage-Castellanos A, Marcos-Vidal L, et al.
Amyotroph Lateral Scler Frontotemporal Degener
. 2021 Aug;
23(1-2):25-34.
PMID: 34396852
SPG4 is an autosomal dominant pure form of hereditary spastic paraplegia (HSP) caused by mutations in the gene. HSP is considered an upper motor neuron disorder characterized by progressive retrograde...
4.
Navas-Sanchez F, Fernandez-Pena A, de Blas D, Aleman-Gomez Y, Marcos-Vidal L, Guzman-De-Villoria J, et al.
J Neurol
. 2021 Jan;
268(7):2429-2440.
PMID: 33507371
SPG4 is an autosomal dominant pure form of hereditary spastic paraplegia (HSP) caused by mutations in the SPAST gene. HSP is considered an upper motor neuron disorder characterized by progressive...
5.
McEachin Z, Gendron T, Raj N, Garcia-Murias M, Banerjee A, Purcell R, et al.
Neuron
. 2020 May;
107(2):292-305.e6.
PMID: 32375063
GGGGCC hexanucleotide repeat expansions (HREs) in C9orf72 cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and lead to the production of aggregating dipeptide repeat proteins (DPRs) via repeat associated...
6.
Fard M, Rebelo A, Buglo E, Nemati H, Dastsooz H, Gehweiler I, et al.
Am J Hum Genet
. 2019 Jun;
104(6):1251.
PMID: 31173719
No abstract available.
7.
Fard M, Rebelo A, Buglo E, Nemati H, Dastsooz H, Gehweiler I, et al.
Am J Hum Genet
. 2019 Apr;
104(4):767-773.
PMID: 30929741
The diagnostic gap for rare neurodegenerative diseases is still considerable, despite continuous advances in gene identification. Many novel Mendelian genes have only been identified in a few families worldwide. Here...
8.
Quintans B, Oliveira J, Sobrido M
Handb Clin Neurol
. 2018 Jan;
147:307-317.
PMID: 29325620
Primary familial brain calcification (PFBC) is a neurodegenerative disease with characteristic calcium deposits in the basal ganglia and other brain regions. The disease usually presents as a combination of abnormal...
9.
Valera J, Diaz T, Petty L, Quintans B, Yanez Z, Boerwinkle E, et al.
Neurol Genet
. 2017 Aug;
3(4):e174.
PMID: 28761930
Objective: To assess the prevalence and clinical features of individuals affected by spinocerebellar ataxia 36 (SCA36) at a large tertiary referral center in the United States. Methods: A total of...
10.
Seixas A, Loureiro J, Costa C, Ordonez-Ugalde A, Marcelino H, Oliveira C, et al.
Am J Hum Genet
. 2017 Jul;
101(1):87-103.
PMID: 28686858
Advances in human genetics in recent years have largely been driven by next-generation sequencing (NGS); however, the discovery of disease-related gene mutations has been biased toward the exome because the...