List of works - Maria Muglia

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

scientific article

A 71-nucleotide deletion in the periaxin gene in an Italian patient with late-onset slowly progressive demyelinating CMT

scientific article published on 27 May 2020

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 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 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 simple and rapid nonisotopic method for sizing CAG repeats in the SCA1 gene

scientific article published on 01 January 1997

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

scientific article published in April 2004

Alpha-thalassemia in a southern Italian population (detection by a non-radioactive procedure)

scientific article published on 01 June 1993

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

scientific article published on 28 November 2012

Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia.

scientific article published on 17 April 2009

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 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

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

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

scientific article published on 01 November 2004

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

Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B) ⬇️

scientific article published on March 1, 1998

Genetic polymorphism of the major regulatory element HS-40 upstream of the human alpha-globin gene cluster

scientific article published on 01 December 2002

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

scientific article published in June 2008

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

scientific article published on 27 December 2007

Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia

article

MAO A VNTR polymorphism and amygdala volume in healthy subjects

scientific article published on 13 January 2011

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

scientific article published in July 2008

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

scientific article

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

scientific article published on 18 March 2010

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 MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease

scientific article published on 13 May 2014

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

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

scientific article published on 09 February 2012

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

scientific article published in March 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

scientific article published on 13 December 2008

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 natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

scientific article

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

article

List of works by Maria Muglia

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

A 71-nucleotide deletion in the periaxin gene in an Italian patient with late-onset slowly progressive demyelinating CMT

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 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 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 simple and rapid nonisotopic method for sizing CAG repeats in the SCA1 gene

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

Alpha-thalassemia in a southern Italian population (detection by a non-radioactive procedure)

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

Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia.

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 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

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

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

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

Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B) ⬇️

Genetic polymorphism of the major regulatory element HS-40 upstream of the human alpha-globin gene cluster

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

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

Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia

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.

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 MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease

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

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

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 natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

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