Lista de obras - Angela Magariello - Dominio Público Uruguay

5-HTTLPR, anxiety and gender interaction moderates right amygdala volume in healthy subjects

artículo científico publicado en 2013

: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders

artículo científico publicado en 2018

A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3

article

A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy

article

A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness.

artículo científico publicado en 2014

A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.

artículo científico publicado en 2010

A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2.

artículo científico publicado en 2008

A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis

artículo científico publicado en 2002

A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies

article

Abnormally high levels of SOD1 mRNA in a patient with amyotrophic lateral sclerosis

artículo científico publicado en 2004

Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene

artículo científico publicado en 2012

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis

artículo científico publicado en 2012

CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.

artículo científico publicado en 2009

Comparison of different techniques for detecting 17p12 duplication in CMT1A

scientific article published on 01 July 2005

FUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysis

artículo científico publicado en 2011

First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL

article

First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.

artículo científico publicado en 2013

Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy

artículo científico publicado en 2004

Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy

article

Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.

artículo científico publicado en 2014

Gene conversion events in adult-onset spinal muscular atrophy

article

Genetically dependent modulation of serotonergic inactivation in the human prefrontal cortex.

artículo científico publicado en 2007

Hb Molfetta [beta126(H4)Val-->Leu, GTG-->CTG]: a new, silent, neutral beta chain variant found in an Italian woman.

artículo científico publicado en 2002

MAO A VNTR polymorphism and amygdala volume in healthy subjects

artículo científico publicado en 2011

MAO A VNTR polymorphism and variation in human morphology: a VBM study.

artículo científico publicado en 2008

Monoamine oxidase-a genetic variations influence brain activity associated with inhibitory control: new insight into the neural correlates of impulsivity.

artículo científico publicado en 2005

Morphological correlates of MAO A VNTR polymorphism: new evidence from cortical thickness measurement.

artículo científico publicado en 2010

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia

artículo científico publicado en 2009

Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia

article

Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy

artículo científico publicado en 2007

Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population

artículo científico publicado en 2008

Sporadic ALS is not associated with VAPB gene mutations in Southern Italy

artículo científico publicado en 2006

TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis

article

The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia

article

Lista de obras de Angela Magariello

5-HTTLPR, anxiety and gender interaction moderates right amygdala volume in healthy subjects

: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders

A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3

A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy

A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness.

A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.

A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2.

A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis

A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies

Abnormally high levels of SOD1 mRNA in a patient with amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis

CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.

Comparison of different techniques for detecting 17p12 duplication in CMT1A

FUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysis

First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL

First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.

Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy

Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy

Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.

Gene conversion events in adult-onset spinal muscular atrophy

Genetically dependent modulation of serotonergic inactivation in the human prefrontal cortex.

Hb Molfetta [beta126(H4)Val-->Leu, GTG-->CTG]: a new, silent, neutral beta chain variant found in an Italian woman.

MAO A VNTR polymorphism and amygdala volume in healthy subjects

MAO A VNTR polymorphism and variation in human morphology: a VBM study.

Monoamine oxidase-a genetic variations influence brain activity associated with inhibitory control: new insight into the neural correlates of impulsivity.

Morphological correlates of MAO A VNTR polymorphism: new evidence from cortical thickness measurement.

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia

Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia

Putative role of specific JAG1 gene exons in modulating clinical features in patients with leukoencephalopathy

Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population

Sporadic ALS is not associated with VAPB gene mutations in Southern Italy

TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis

The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia