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APOE ε4 influences cognitive decline positively in APP and negatively in PSEN1 mutation carriers with autosomal‐dominant Alzheimer's disease

European journal of neurology, 2022-12, Vol.29 (12), p.3580-3589

2022

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Progression of early features of spinocerebellar ataxia type 2 in individuals at risk: a longitudinal study

Lancet neurology, 2014-05, Vol.13 (5), p.482-489

2014

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Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs

Journal of internal medicine, 2024-09, Vol.296 (3), p.234-248

2024

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A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72‐ALS

Movement disorders, 2021-02, Vol.36 (2), p.508-514

2021

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Comprehensive Study of Early Features in Spinocerebellar Ataxia 2: Delineating the Prodromal Stage of the Disease

Cerebellum (London, England), 2014-10, Vol.13 (5), p.568-579

2014

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Are ATXN2 variants modifying our understanding about neural pathogenesis, phenotypes, and diagnostic?

Neural regeneration research, 2022-11, Vol.17 (11), p.2445-2447

2022

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A Comprehensive Review of Spinocerebellar Ataxia Type 2 in Cuba

Cerebellum (London, England), 2011-06, Vol.10 (2), p.184-198

2011

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Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles

European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.41-49

2012

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Subtle rapid eye movement sleep abnormalities in presymptomatic spinocerebellar ataxia type 2 gene carriers

Movement disorders, 2011-02, Vol.26 (2), p.347-350

2011

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Comment to: “SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies”

Movement disorders, 2024-06, Vol.39 (6), p.1077-1077

2024

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Ataxin-2 gene: a powerful modulator of neurological disorders

Current opinion in neurology, 2021-08, Vol.34 (4), p.578-588

2021

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TBK1 haploinsufficiency results in changes in the K63-ubiquitination profiles in brain and fibroblasts from affected and presymptomatic mutation carriers

Journal of neurology, 2022-06, Vol.269 (6), p.3037-3049

2022

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Prodromal spinocerebellar ataxia type 2: Prospects for early interventions and ethical challenges

Movement disorders, 2017-05, Vol.32 (5), p.708-718

2017

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Plasma biomarker profiles in autosomal dominant Alzheimer’s disease

Brain (London, England : 1878), 2023-03, Vol.146 (3), p.1132-1140

2023

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Large Normal and Intermediate Alleles in the Context of SCA2 Prenatal Diagnosis

Journal of genetic counseling, 2014-02, Vol.23 (1), p.89-96

2014

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Involuntary movements, vocalizations and cognitive decline

Parkinsonism & related disorders, 2020-10, Vol.79, p.135-137

2020

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Plasma metabolomics of presymptomatic PSEN1‐H163Y mutation carriers: a pilot study

Annals of clinical and translational neurology, 2021-03, Vol.8 (3), p.579-591

2021

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Epigenetic heredity (deoxyribonucleic acid methylation): Clinical context in neurodegenerative disorders and ATXN2 gene

Medicina clinica, 2014-10, Vol.143 (8), p.360

2014

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Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2

Journal of the neurological sciences, 2017-01, Vol.372, p.324-328

2017

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Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications

Human genetics, 2012-04, Vol.131 (4), p.625-638

2012

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Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia

Acta neuropathologica communications, 2021-08, Vol.9 (1), p.132-132, Article 132

2021

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Genetic features of Huntington disease in Cuban population: Implications for phenotype, epidemiology and predictive testing

Journal of the neurological sciences, 2013-12, Vol.335 (1), p.101-104

2013

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Executive deficit in spinocerebellar ataxia type 2 is related to expanded CAG repeats: Evidence from antisaccadic eye movements

Brain and cognition, 2014-11, Vol.91, p.28-34

2014

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Buccal Cell Micronucleus Frequency Is Significantly Elevated in Patients with Spinocerebellar Ataxia Type 2

Archives of medical research, 2017-04, Vol.48 (3), p.297-302

2017

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Ethical Dilemmas in Genetic Testing: Examples from the Cuban Program for Predictive Diagnosis of Hereditary Ataxias

Journal of genetic counseling, 2011-06, Vol.20 (3), p.241-248

2011

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APOE ε4 influences cognitive decline positively in APP and negatively in PSEN1 mutation carriers with autosomal‐dominant Alzheimer's disease

Progression of early features of spinocerebellar ataxia type 2 in individuals at risk: a longitudinal study

Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs

A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72‐ALS

Comprehensive Study of Early Features in Spinocerebellar Ataxia 2: Delineating the Prodromal Stage of the Disease

Are ATXN2 variants modifying our understanding about neural pathogenesis, phenotypes, and diagnostic?

A Comprehensive Review of Spinocerebellar Ataxia Type 2 in Cuba

Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles

Subtle rapid eye movement sleep abnormalities in presymptomatic spinocerebellar ataxia type 2 gene carriers

Comment to: “SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies”

Ataxin-2 gene: a powerful modulator of neurological disorders

TBK1 haploinsufficiency results in changes in the K63-ubiquitination profiles in brain and fibroblasts from affected and presymptomatic mutation carriers

Prodromal spinocerebellar ataxia type 2: Prospects for early interventions and ethical challenges

Plasma biomarker profiles in autosomal dominant Alzheimer’s disease

Large Normal and Intermediate Alleles in the Context of SCA2 Prenatal Diagnosis

Involuntary movements, vocalizations and cognitive decline

Plasma metabolomics of presymptomatic PSEN1‐H163Y mutation carriers: a pilot study

Epigenetic heredity (deoxyribonucleic acid methylation): Clinical context in neurodegenerative disorders and ATXN2 gene

Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2

Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications

Single-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia

Genetic features of Huntington disease in Cuban population: Implications for phenotype, epidemiology and predictive testing

Executive deficit in spinocerebellar ataxia type 2 is related to expanded CAG repeats: Evidence from antisaccadic eye movements

Buccal Cell Micronucleus Frequency Is Significantly Elevated in Patients with Spinocerebellar Ataxia Type 2

Ethical Dilemmas in Genetic Testing: Examples from the Cuban Program for Predictive Diagnosis of Hereditary Ataxias

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