List of works - Mariangela Lo Giudice

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

scientific article published on 17 January 2013

A Missense Mutation in the Coiled-Coil Domain of the KIF5A Gene and Late-Onset Hereditary Spastic Paraplegia

article

A novel L1CAM mutation in a fetus detected by prenatal diagnosis

scientific article published on 16 August 2009

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

scientific article

Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex

scientific article published on 28 April 2010

Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome

article

Denaturing HPLC-based assay for detection of ATRX gene mutations.

scientific article

Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia

scientific article

Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?

Mitochondrial mRNA expression in fibroblasts of Down syndrome subjects

scientific article published on 03 March 2018

Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome

scientific article published on May 2003

No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age.

scientific article

Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene

scientific article published in September 2001

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

scientific article

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.

scientific article published in May 2005

The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?

scientific article published on 25 January 2013

The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.

scientific article

List of works by Mariangela Lo Giudice

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

A Missense Mutation in the Coiled-Coil Domain of the KIF5A Gene and Late-Onset Hereditary Spastic Paraplegia

A novel L1CAM mutation in a fetus detected by prenatal diagnosis

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex

Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome

Denaturing HPLC-based assay for detection of ATRX gene mutations.

Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia

Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?

Mitochondrial mRNA expression in fibroblasts of Down syndrome subjects

Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome

No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age.

Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.

The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?

The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.