List of works - Rosalucia Mazzei

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.

scientific article published on 5 June 2014

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

scientific article

A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL.

scientific article

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

scientific article published on 11 March 2008

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

scientific article published in October 2002

A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.

scientific article

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

article

A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL.

scientific article published on 4 March 2009

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

scientific article published in April 2004

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

scientific article

An Italian case of CADASIL with mutation CGC-TCG in codon 1006, exon 19 Notch3 gene.

scientific article published on February 2004

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

scientific article published on 28 November 2012

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

scientific article

CAG repeat length and clinical features in three Italian families with spinocerebellar ataxia type 2 (SCA2): early impairment of Wisconsin Card Sorting Test and saccade velocity.

scientific article published in October 1998

CONVENTIONAL MRI AND NOTCH3 GENE SCREENING IN SPORADIC CADASIL

article

Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria

scientific article published on 22 September 2010

Comparison of different techniques for detecting 17p12 duplication in CMT1A

scientific article published on 01 July 2005

Copy number variations and stroke

scientific article

Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?

scientific article published on 01 November 2004

Cysteine-sparing notch3 mutations: cadasil or cadasil variants?

scientific article

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

scientific article published on 04 November 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.

scientific article published in January 2013

Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy

scientific article published in November 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.

scientific article

Gene conversion events in adult-onset spinal muscular atrophy

article

Gene symbol: MECP2. Disease: Rett syndrome

scientific article published on 01 July 2006

Gene symbol: MECP2. Disease: Rett syndrome.

scientific article

Gene symbol: NOTCH3

scientific article published on 01 April 2007

Gene symbol: NOTCH3

scientific article published in April 2007

Gene symbol: NOTCH3. Disease: CADASIL

scientific article published in June 2008

Gene symbol: NOTCH3. Disease: CADASIL.

scientific article

Horizontal Gaze Palsy With Progressive Scoliosis: Two Novel ROBO3 Mutations in a Compound Heterozygous Sporadic Case.

scientific article published on 5 December 2017

Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations?

scientific article published on 14 September 2018

Italian folk plant-based remedies to heal headache (XIX-XX century).

scientific article published on 9 September 2017

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

scientific article

Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus

scientific article published on 5 December 2003

Notch3 protein expression in skin fibroblasts from CADASIL patients

scientific article published on 19 April 2018

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

scientific article published in March 2007

Silent celiac disease in patients with childhood localization-related epilepsies

scientific article

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

scientific article

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

The spectrum of Notch3 mutations in 28 Italian CADASIL families

scientific article published in May 2005

List of works by Rosalucia Mazzei

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 Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL.

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 mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.

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

A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL.

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

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

An Italian case of CADASIL with mutation CGC-TCG in codon 1006, exon 19 Notch3 gene.

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

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

CAG repeat length and clinical features in three Italian families with spinocerebellar ataxia type 2 (SCA2): early impairment of Wisconsin Card Sorting Test and saccade velocity.

CONVENTIONAL MRI AND NOTCH3 GENE SCREENING IN SPORADIC CADASIL

Clinical, genetic and magnetic resonance findings in an Italian patient affected by L-2-hydroxyglutaric aciduria

Comparison of different techniques for detecting 17p12 duplication in CMT1A

Copy number variations and stroke

Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?

Cysteine-sparing notch3 mutations: cadasil or cadasil variants?

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

Gene symbol: MECP2. Disease: Rett syndrome

Gene symbol: MECP2. Disease: Rett syndrome.

Gene symbol: NOTCH3

Gene symbol: NOTCH3

Gene symbol: NOTCH3. Disease: CADASIL

Gene symbol: NOTCH3. Disease: CADASIL.

Horizontal Gaze Palsy With Progressive Scoliosis: Two Novel ROBO3 Mutations in a Compound Heterozygous Sporadic Case.

Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations?

Italian folk plant-based remedies to heal headache (XIX-XX century).

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

Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus

Notch3 protein expression in skin fibroblasts from CADASIL patients

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

Silent celiac disease in patients with childhood localization-related epilepsies

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

The spectrum of Notch3 mutations in 28 Italian CADASIL families