Lista de obras -

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy

artículo científico publicado en 2008

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings

artículo científico publicado en 2016

Acute optic neuropathy associated with a novel MFN2 mutation

artículo científico publicado en 2015

Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multi-system ataxic syndrome

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Cerebellum and neuropsychiatric disorders: insights from ARSACS.

artículo científico publicado en 2013

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

artículo científico publicado en 2018

Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS.

artículo científico publicado en 2013

Early-onset optic neuropathy as initial clinical presentation in SPG7.

artículo científico publicado en 2014

Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis

artículo científico publicado en 2014

Hereditary spastic paraplegia type 11 with a very late onset

artículo científico publicado en 2015

Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans

artículo científico publicado en 2015

Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families

artículo científico publicado en 2016

Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review

artículo científico

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

artículo científico publicado en 2009

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

artículo científico publicado en 2017

Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.

artículo científico publicado en 2016

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

artículo científico publicado en 2007

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

article

Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family

artículo científico publicado en 2016

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

artículo científico publicado en 2012

Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization

artículo científico

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype

artículo científico publicado en 2004

SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing.

artículo científico publicado en 2017

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

artículo científico publicado en 2009

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 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families

scientific article published on 14 May 2019

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations

artículo científico publicado en 2009

Lista de obras de

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings

Acute optic neuropathy associated with a novel MFN2 mutation

Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multi-system ataxic syndrome

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

Cerebellum and neuropsychiatric disorders: insights from ARSACS.

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS.

Early-onset optic neuropathy as initial clinical presentation in SPG7.

Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis

Hereditary spastic paraplegia type 11 with a very late onset

Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans

Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families

Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.

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

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

Primary familial brain calcification with a novel SLC20A2 mutation: Analysis of PiT-2 expression and localization

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype

SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing.

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

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 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations