Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients

Spinocerebellar ataxia

(2019) Thomas Klockgether et al.   Nature Reviews Disease Primers

Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia

(2019) Alhassane Diallo et al.   MOVEMENT DISORDERS

Factors associated with ATXN2 CAG/CAA repeat intergenerational instability in Spinocerebellar ataxia type 2

(2018) L.E. Almaguer-Mederos et al.   CLINICAL GENETICS

Transcranial magnetic stimulation in hereditary ataxias: Diagnostic utility, pathophysiological insight and treatment

(2018) Roberto Rodríguez-Labrada et al.   CLINICAL NEUROPHYSIOLOGY

Predictors of survival in spinocerebellar ataxia type 2 population from Southern Italy

(2018) Antonella Antenora et al.   NEUROLOGICAL SCIENCES

Selective Forces Related to Spinocerebellar Ataxia Type 2

(2018) Lucas Schenatto Sena et al.   CEREBELLUM

Spinocerebellar ataxias: prospects and challenges for therapy development

(2018) Tetsuo Ashizawa et al.   Nature Reviews Neurology

The Importance of mTOR Trafficking for Human Skeletal Muscle Translational Control

(2018) Nathan Hodson et al.   EXERCISE AND SPORT SCIENCES REVIEWS

Mammalian ataxin-2 modulates translation control at the pre-initiation complex via PI3K/mTOR and is induced by starvation

(2016) Isabel Lastres-Becker et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions

(2016) G.N. Souza et al.   CLINICAL GENETICS

Spinocerebellar ataxia type 2: Measures of saccade changes improve power for clinical trials

(2016) Roberto Rodríguez-Labrada et al.   MOVEMENT DISORDERS

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

(2014) Luis Velázquez-Pérez et al.   CEREBELLUM

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

(2014) Luis Velázquez-Pérez et al.   LANCET NEUROLOGY

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7

(2014) L. Velázquez-Pérez et al.   NEUROGENETICS

Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias

(2013) Adriana Moro et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Origin of the Spinocerebellar Ataxia Type 7 Gene Mutation in Mexican Population

(2013) J. J. Magaña et al.   CEREBELLUM

Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect

(2013) J.J. Magaña et al.   CLINICAL GENETICS

Hereditary ataxias: overview

(2013) Suman Jayadev et al.   GENETICS IN MEDICINE

Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data

(2013) Heike Jacobi et al.   LANCET NEUROLOGY

Expansion of the Spinocerebellar Ataxia Type 10 (SCA10) Repeat in a Patient with Sioux Native American Ancestry

(2013) Khalaf Bushara et al.   PLoS One

Hereditary Ataxia and Spastic Paraplegia in Portugal

(2013) Paula Coutinho et al.   JAMA Neurology

Estimation of survival in Spinocerebellar Ataxia type 2 Cuban patients

(2012) LE Almaguer-Mederos et al.   CLINICAL GENETICS

Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis

(2012) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics

(2012) Joshua Hersheson et al.   HUMAN MUTATION

The Autosomal Recessive Cerebellar Ataxias

(2012) Mathieu Anheim et al.   NEW ENGLAND JOURNAL OF MEDICINE

Prevalence Rate and Functional Status of Cerebellar Ataxia in Korea

(2011) Byung-Euk Joo et al.   CEREBELLUM

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

(2011) José Miguel Laffita-Mesa et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Low predisposition to instability of the Friedreich ataxia gene in Cuban population

(2010) T C Mariño et al.   CLINICAL GENETICS

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

Uncommon features in Cuban families affected with Friedreich ataxia

(2010) Tania Cruz-Mariño et al.   NEUROSCIENCE LETTERS

Motor Nerve Hyperexcitability and Muscle Cramps in Machado-Joseph Disease

(2009) Kazuaki Kanai   ARCHIVES OF NEUROLOGY

Saccade velocity is reduced in presymptomatic spinocerebellar ataxia type 2

(2009) L. Velázquez-Pérez et al.   CLINICAL NEUROPHYSIOLOGY

Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature

(2009) Lorenzo Nanetti et al.   JOURNAL OF NEUROLOGY

Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguin

(2009) Luis Velázquez Pérez et al.   NEUROSCIENCE LETTERS

Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10)

(2009) Teresa Almeida et al.   PLoS One

Insulin receptor and lipid metabolism pathology in ataxin-2 knock-out mice

(2008) Isabel Lastres-Becker et al.   HUMAN MOLECULAR GENETICS

Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms

(2008) T. Schmitz-Hubsch et al.   NEUROLOGY