List of works - Graziella Uziel

A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature

scientific article

Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant

scientific article published on 17 May 2013

Adult-onset leukodystrophies from respiratory chain disorders: do they exist?

scientific article

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

scientific article

Brain fluorodeoxyglucose PET in adrenoleukodystrophy

scientific article published on 6 August 2014

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

scientific article

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study

scientific article published on 21 July 2012

Characterization of severe action myoclonus in sialidoses

scientific article published on 16 February 2011

Childhood cerebral X-linked adrenoleukodystrophy more than 5 years after hematopoietic cell transplantation: the first case from Serbia and southeastern Europe

scientific article

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract

scientific article

Effects of riboflavin in children with complex II deficiency

scientific article

Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trials

scientific article

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

scientific article

Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations

scientific article published on 8 November 2013

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients

scientific article published on 31 October 2008

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

scientific article

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

scientific article published on 15 October 2008

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

scientific article

Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey

scientific article published in March 2002

Infantile mitochondrial encephalopathy

scientific article published on 26 May 2011

Intracranial calcification in early infantile Krabbe disease: nothing new under the sun.

scientific article

L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients

scientific article published on June 2009

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

scientific article

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

scientific article

MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations

scientific article

MRI in Leigh syndrome with SURF1 gene mutation

scientific article published on 01 January 2002

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

scientific article

Mitochondrial dysfunction in central nervous system white matter disorders

scientific article published on 28 May 2014

Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles

scientific article published in November 2008

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations

scientific article published on 28 February 2009

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency

scientific article

Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

scientific article

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

scientific article

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

scientific article

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

scientific article

Myoclonus in mitochondrial disorders

scientific article published on 7 February 2014

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy

scientific article

Phenotypic characterization of hypomyelination and congenital cataract

scientific article published in August 2007

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

scientific article published in May 2013

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

scientific article published on 06 February 2013

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

scientific article published on 26 January 2012

Rhythmic cortical myoclonus in Niemann-Pick disease type C.

scientific article published in September 2006

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

scientific article

Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants

scientific article

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

scientific article (publication date: 2003)

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in Apoptosis Inducing Factor 1

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

scientific article

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

scientific article

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

scientific article

List of works by Graziella Uziel

A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature

Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant

Adult-onset leukodystrophies from respiratory chain disorders: do they exist?

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

Brain fluorodeoxyglucose PET in adrenoleukodystrophy

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study

Characterization of severe action myoclonus in sialidoses

Childhood cerebral X-linked adrenoleukodystrophy more than 5 years after hematopoietic cell transplantation: the first case from Serbia and southeastern Europe

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract

Effects of riboflavin in children with complex II deficiency

Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trials

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey

Infantile mitochondrial encephalopathy

Intracranial calcification in early infantile Krabbe disease: nothing new under the sun.

L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations

MRI in Leigh syndrome with SURF1 gene mutation

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Mitochondrial dysfunction in central nervous system white matter disorders

Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles

Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency

Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

Myoclonus in mitochondrial disorders

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy

Phenotypic characterization of hypomyelination and congenital cataract

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms

Rhythmic cortical myoclonus in Niemann-Pick disease type C.

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in Apoptosis Inducing Factor 1

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.