Lista de obras -

A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP

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

artículo científico publicado en 2017

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

artículo científico publicado en 2014

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

artículo científico publicado en 2012

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

artículo científico publicado en 2015

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.

artículo científico publicado en 2018

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

artículo científico publicado en 2016

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

artículo científico publicado en 2017

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

artículo científico publicado en 2009

Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification

artículo científico publicado en 2019

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

artículo científico publicado en 2007

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

artículo científico publicado en 2009

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

artículo científico publicado en 2008

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

artículo científico publicado en 2008

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

artículo científico publicado en 2016

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation

artículo científico publicado en 2016

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

artículo científico publicado en 2007

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

artículo científico publicado en 2006

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

artículo científico publicado en 2015

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

artículo científico publicado en 2017

Primary brain calcification: an international study reporting novel variants and associated phenotypes

artículo científico publicado en 2018

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

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

artículo científico publicado en 2014

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

artículo científico publicado en 2010

Lista de obras de

A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP

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

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

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

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.

COMT Val158Met Polymorphism Modulates Huntington's Disease Progression

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

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

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

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

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

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

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

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

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

Primary brain calcification: an international study reporting novel variants and associated phenotypes

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

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

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia