List of works - Luigi Citrigno

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

scientific article

Autosomal dominant lateral temporal epilepsy (ADLTE): absence of chromosomal rearrangements in LGI1 gene

scientific article published on 18 November 2013

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

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 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

Genetic screening for familial amyloid polyneuropathy in patients with idiopathic carpal tunnel syndrome

scientific article published in June 2008

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

scientific article

Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series

scientific article published on 09 February 2012

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

scientific article published on 13 December 2008

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 Luigi Citrigno

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

Autosomal dominant lateral temporal epilepsy (ADLTE): absence of chromosomal rearrangements in LGI1 gene

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

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 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.

Genetic screening for familial amyloid polyneuropathy in patients with idiopathic carpal tunnel syndrome

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

Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series

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

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