Lista de obras -

A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome

artículo científico publicado en 2014

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

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

scientific journal article

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).

artículo científico publicado en 2010

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

artículo científico publicado en 2013

Another Mutation in Cysteine 131 in Protein Kinase Cγ as a Cause of Spinocerebellar Ataxia Type 14

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

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

artículo científico publicado en 2018

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

scientific journal article

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

artículo científico publicado en 2006

Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population

artículo científico publicado en 2010

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

artículo científico publicado en 2013

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

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

artículo científico publicado en 2019

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

artículo científico publicado en 2010

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

artículo científico publicado en 2010

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

artículo científico publicado en 2014

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

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

artículo científico publicado en 2005

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

artículo científico publicado en 2015

New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.

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

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

artículo científico publicado en 2011

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia

artículo científico publicado en 2011

SYNE1 mutations in autosomal recessive cerebellar ataxia

artículo científico publicado en 2013

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

article

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

artículo científico publicado en 2006

Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds

artículo científico publicado en 2010

Survival and severity in dominant cerebellar ataxias

artículo científico publicado en 2015

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

scientific article published on 29 October 2019

Lista de obras de

A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome

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

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

Another Mutation in Cysteine 131 in Protein Kinase Cγ as a Cause of Spinocerebellar Ataxia Type 14

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

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

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

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

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

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

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

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

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

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

New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.

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

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

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia

SYNE1 mutations in autosomal recessive cerebellar ataxia

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds

Survival and severity in dominant cerebellar ataxias

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3