Lista de obras -

"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia

scientific article published on 03 January 2019

A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia

artículo científico publicado en 2015

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

artículo científico publicado en 2017

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

artículo científico publicado en 2013

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

artículo científico publicado en 2015

Annual change in Friedreich's ataxia evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is independent of disease severity

artículo científico publicado en 2011

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data

artículo científico publicado en 2015

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

artículo científico publicado en 2016

Clinical and genetic characteristics of late-onset Huntington's disease

artículo científico publicado en 2018

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment

artículo científico publicado en 2008

Depression comorbidity in spinocerebellar ataxia

artículo científico publicado en 2011

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

artículo científico publicado en 2018

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach

artículo científico publicado en 2016

FXTAS: new insights and the need for revised diagnostic criteria

artículo científico publicado en 2012

Falls in spinocerebellar ataxias: Results of the EuroSCA Fall Study

artículo científico publicado en 2010

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

artículo científico publicado en 2019

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

artículo científico publicado en 2015

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias

Low cancer prevalence in polyglutamine expansion diseases

artículo científico publicado en 2017

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

artículo científico publicado en 2007

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

artículo científico publicado en 2015

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

artículo científico publicado en 2013

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.

artículo científico publicado en 2014

Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

artículo científico publicado en 2011

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

artículo científico publicado en 2011

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

artículo científico publicado en 2017

Self-rated health status in spinocerebellar ataxia--results from a European multicenter study

artículo científico publicado en 2010

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

artículo científico publicado en 2012

Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations

artículo científico publicado en 2007

Survival and severity in dominant cerebellar ataxias

artículo científico publicado en 2015

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study

artículo científico publicado en 2018

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

artículo científico publicado en 2014

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

artículo científico publicado en 2016

Lista de obras de

"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia

A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

Annual change in Friedreich's ataxia evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is independent of disease severity

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene

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

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

Clinical and genetic characteristics of late-onset Huntington's disease

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment

Depression comorbidity in spinocerebellar ataxia

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach

FXTAS: new insights and the need for revised diagnostic criteria

Falls in spinocerebellar ataxias: Results of the EuroSCA Fall Study

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias

Low cancer prevalence in polyglutamine expansion diseases

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.

Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

Self-rated health status in spinocerebellar ataxia--results from a European multicenter study

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations

Survival and severity in dominant cerebellar ataxias

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases