List of works - Alessandra Patitucci

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

article

A longitudinal observation of brain-derived neurotrophic factor mRNA levels in patients with relapsing-remitting multiple sclerosis.

scientific 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 founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy

scientific article published on 01 November 2007

A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy. ⬇️

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 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

scientific article published in April 2004

An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient.

scientific article published on January 2009

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

Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.

scientific article

Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation.

scientific article published on 20 August 2008

Clinical and muscle magnetic resonance imaging study of an Italian family with autosomal dominant inclusion body myopathy not linked to known genetic loci

scientific article published in December 2005

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

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

Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype

scientific article published on 01 September 2005

Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis

scientific article published on 04 September 2007

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

scientific article

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

scientific article (publication date: May 2004)

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

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

List of works by Alessandra Patitucci

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

A longitudinal observation of brain-derived neurotrophic factor mRNA levels in patients with relapsing-remitting multiple sclerosis.

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 founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy

A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy. ⬇️

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

An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient.

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

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

Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families.

Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation.

Clinical and muscle magnetic resonance imaging study of an Italian family with autosomal dominant inclusion body myopathy not linked to known genetic loci

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

Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype

Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis

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

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

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

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