Search Results - "Estupiñán‐Rodríguez, Annelié"
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Body Mass Index Is Significantly Associated With Disease Severity in Spinocerebellar Ataxia Type 2 Patients
Published in Movement disorders (01-06-2021)“…ABSTRACT Background Spinocerebellar ataxia type 2 is a progressive neurodegenerative disorder due to an unstable expansion of a CAG repeat in the ATXN2 gene…”
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Neurorehabilitation Improves the Motor Features in Prodromal SCA2: A Randomized, Controlled Trial
Published in Movement disorders (01-07-2019)“…Background The search for early interventions is a novel approach in spinocerebellar ataxias, but there are few studies supporting this notion. This article…”
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3
Testosterone Levels Are Decreased and Associated with Disease Duration in Male Spinocerebellar Ataxia Type 2 Patients
Published in Cerebellum (London, England) (01-08-2020)“…Spinocerebellar ataxia type 2 (SCA2) is a progressive neurodegenerative disorder due to an unstable expansion of a CAG repeat in the ATXN2 gene. Despite…”
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Executive deficit in spinocerebellar ataxia type 2 is related to expanded CAG repeats: Evidence from antisaccadic eye movements
Published in Brain and cognition (01-11-2014)“…Although antisaccadic task is a sensitive research tool in psychopathology, it has not been systematically studied in patients with spinocerebellar ataxia type…”
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Buccal Cell Micronucleus Frequency Is Significantly Elevated in Patients with Spinocerebellar Ataxia Type 2
Published in Archives of medical research (01-04-2017)“…Spinocerebellar ataxia type 2 (SCA2) is part of a group of at least nine dominantly inherited disorders characterized by progressive degeneration of specific…”
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Aproximación a la ingesta nutricional en pacientes con Ataxia Espinocerebelosa tipo 2
Published in Revista habanera de ciencias médicas (01-08-2021)“…Introduction: Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative and inherited disorder. No study has been conducted to characterize nutritional…”
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Sleep spindles and K-complex activities are decreased in spinocerebellar ataxia type 2: relationship to memory and motor performances
Published in Sleep medicine (01-08-2019)“…Sleep spindles and K-complexes are electroencephalographic hallmarks of non-rapid eye movement (non-REM) sleep that provide valuable information into brain…”
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Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients
Published in Cerebellum (London, England) (01-04-2020)“…The prevalence estimations of hereditary ataxias are biased since most epidemiological studies are confined to isolated geographical regions and few nationwide…”
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Neurorehabilitation therapy in spinocerebellar ataxia type 2: A 24‐week, rater‐blinded, randomized, controlled trial
Published in Movement disorders (01-09-2018)“…ABSTRACT Background: Neurorehabilitation has become in a widely used approach in spinocerebellar ataxias, but there are scarce powerful clinical studies…”
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10
Structural Brain Correlates of Sleep Microstructure in Spinocerebellar Ataxia Type 2 and its Role on Clinical Phenotype
Published in Cerebellum (London, England) (01-10-2024)“…The influence of brain atrophy on sleep microstructure in Spinocerebellar Ataxias (SCAs) has not been extensively explored limiting the use of these sleep…”
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Comprehensive Study of Early Features in Spinocerebellar Ataxia 2: Delineating the Prodromal Stage of the Disease
Published in Cerebellum (London, England) (01-10-2014)“…The prodromal phase of spinocerebellar ataxias (SCAs) has not been systematically studied. Main findings come from a homogeneous SCA type 2 (SCA2) population…”
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Erythropoietin in Spinocerebellar Ataxia Type 2: Feasibility and Proof‐of‐Principle Issues from a Randomized Controlled Study
Published in Movement disorders (01-07-2022)“…Background Several pieces of evidence have shown the neurotrophic effect of erythropoietin (EPO) and its introduction in the therapeutic practice of…”
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SCA2 predictive testing in Cuba: challenging concepts and protocol evolution
Published in Journal of community genetics (01-07-2015)“…Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease caused by a CAG repeat expansion in the ATXN2 gene. Cuba has the highest prevalence (6.57…”
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Large Normal and Intermediate Alleles in the Context of SCA2 Prenatal Diagnosis
Published in Journal of genetic counseling (01-02-2014)“…In 2001 a program for predictive testing of Spinocerebellar Ataxia type 2 was developed in Cuba, based on the detection of an abnormal CAG trinucleotide repeat…”
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Lisuride Reduces Involuntary Periodic Leg Movements in Spinocerebellar Ataxia Type 2 Patients
Published in Cerebellum (London, England) (01-12-2012)“…Periodic leg movements (PLMs) are a common sleep disorder in spinocerebellar ataxia type 2 (SCA2) being associated to higher disease severity and altered sleep…”
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Couples at risk for spinocerebellar ataxia type 2: the Cuban prenatal diagnosis experience
Published in Journal of community genetics (01-10-2013)“…Cuba reports the highest worldwide prevalence of spinocerebellar ataxia type 2 (SCA2) and the greatest number of descendants at risk. A protocol for genetic…”
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