Search filters

List of works by Vincenzo Leuzzi

A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: a Longitudinal Study

scientific article published in Scientific Reports

A New Tyrosine Hydroxylase Genotype Associated With Early-Onset Severe Encephalopathy

scientific article published on 22 September 2011

A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies

scientific article

A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme

scientific article

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

scientific article published on 30 October 2014

A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment

scientific article

A new form of cerebral folate deficiency with severe self-injurious behaviour.

scientific article published on 13 September 2012

A novel mouse model of creatine transporter deficiency

scientific article

A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.

scientific article

Acute psychosis in an adolescent with undiagnosed homocystinuria

scientific article published on 5 May 2015

Age-related psychophysiological vulnerability to phenylalanine in phenylketonuria

scientific article

Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts.

scientific article published on 18 January 2008

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.

scientific article published in June 2006

Ataxia, deafness, leukodystrophy: inherited disorder of the white matter in three related patients

scientific article published in June 2000

Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: a tool for early diagnosis of guanidinoacetate methyltransferase deficiency

scientific article

Automated method for the measurement of amino acids in urine by high-performance liquid chromatography

scientific article published on 01 April 1996

Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.

scientific article published in October 2002

Behavioral and neurochemical characterization of new mouse model of hyperphenylalaninemia

scientific article (publication date: 2013)

Bilateral striatal lesions.

scientific article published on April 1988

Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy

scientific article published on 01 March 1999

Biochemical, clinical and neuroradiological (MRI) correlations in late-detected PKU patients

scientific article published on 01 January 1995

Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation)

scientific article published on 01 November 2000

Can untreated PKU patients escape from intellectual disability? A systematic review

scientific article published on 29 August 2018

Childhood Leber's hereditary optic neuropathy (ND1/3460) with visual recovery.

scientific article published in October 1998

Childhood demyelinating diseases with a prolonged remitting course and their relation to Schilder's disease: report of two cases

scientific article

Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.

scientific article published on 27 August 2013

Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria

scientific article published in September 2000

Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples

scientific article published on 03 October 2020

Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: a start toward standardized outcome measurement across development.

scientific article published on 06 October 2011

Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree

scientific article (publication date: December 2002)

Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency

scientific article published on 01 May 2002

Derangement of the dopaminergic system in phenylketonuria: study of the event-related potential (P300)

scientific article published on 01 June 2000

Diagnostic problems in “clinically definite” multiple sclerosis patients with normal CSF and multiple MRI abnormalities

scientific article published on 01 November 1994

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

scientific article

Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype

scientific article published on 01 September 2008

Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation

scientific article published on November 2004

Effects of DNA-Breaking Agents on Cockayne Syndrome Cells

scientific article published on 01 November 1992

Erythrocyte-mediated delivery of phenylalanine ammonia lyase for the treatment of phenylketonuria in BTBR-Pah(enu2) mice.

scientific article

Evolution of daytime quiet sleep components in early treated phenylketonuric infants

scientific article published in May 1996

Executive function impairment in early-treated PKU subjects with normal mental development.

scientific article

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.

scientific article

Expanding CEP290 mutational spectrum in ciliopathies

scientific article published on 01 October 2009

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis

scientific article published on 19 July 2006

Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype ⬇️

scientific article published on January 1, 2012

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

scientific article published on 7 November 2013

HPLC assay for guanidinoacetate methyltransferase

scientific article published in August 2004

HPLC assay for guanidinoacetate methyltransferase

scientific article published in 2004

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

scientific article

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

scientific article

Hemiplegic dystonia associated with regional cortical dysplasia (pachygyria).

scientific article

Hyperargininaemia

scientific article published on 01 January 1987

In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited disorders of creatine metabolism

scientific article

Inborn errors of creatine metabolism and epilepsy ⬇️

scientific article published on November 13, 2012

Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.

scientific article

Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families

scientific article (publication date: 25 February 2003)

Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome

scientific article

Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial

scientific article

KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood

scientific article published on 08 September 2020

LHON mutations in Italian patients affected by multiple sclerosis

article

Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene.

scientific article published on 13 November 2010

Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype

scientific article published in June 1997

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

scientific article published on 20 May 2013

Mental outcome in West syndrome: prognostic value of some clinical factors.

scientific article published in March 1987

Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation

scientific article published in August 2007

Metabolic epilepsy: an update

scientific article published on 27 December 2012

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

scientific article published on 23 May 2015

Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness

scientific article published on 07 December 2020

Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy

scientific article published in October 1991

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers

scientific article published on 22 May 2012

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

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy

scientific article published on 22 October 2011

Movement disorder-childhood rating scale: reliability and validity

scientific article published in October 2008

Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: Contribution to diagnosis

article

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

scientific article published on 27 April 2015

Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay

article published in 2011

Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study

scientific article

Neurological and cytogenetic study in early-onset ataxia-telangiectasia patients.

scientific article

Neuropsychological and neuroradiological (MRI) variations during phenylalanine load: protective effect of valine, leucine, and isoleucine supplementation

scientific article published in August 1997

Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.

scientific article

Neuroradiological (MRI) abnormalities in phenylketonuric subjects: clinical and biochemical correlations

scientific article published on 01 December 1993

Non-ketotic hyperglycinaemia: a new case with late onset

scientific article published on 01 January 1990

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

scientific article

Oxidative abnormalities in Menkes disease

article

Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency

scientific article published on 3 January 2009

Phenylketonuria: white-matter changes assessed by 3.0-T magnetic resonance (MR) imaging, MR spectroscopy and MR diffusion

scientific article published on 10 March 2009

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

scientific article

Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia

scientific article

Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines

scientific article published on 04 September 2019

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs

scientific article published on 29 May 2015

Psychological effects on parents of children with early detected phenylketonuria

scientific article published on 01 January 1989

Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry

scientific article

Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?

scientific article

Running apraxia as a presenting symptom of neuronal ceroid lipofuscinosis 6.

scientific article

Scale for evaluation of movement disorders in the first three years of life

scientific article published in April 2009

Screening for dopa-responsive dystonia in patients with Scans Without Evidence of Dopaminergic Deficiency (SWEDD).

scientific article published on 3 September 2014

Screening of mtDNA mutations in Italian LHON pedigrees

article

Severe early onset ethylmalonic encephalopathy with West syndrome

scientific article published on 21 July 2015

Sleep polygraphy in Angelman syndrome

scientific article published in April 2004

Sleep spindle activity is correlated with reading abilities in developmental dyslexia.

scientific article published on October 2009

Subclinical visual impairment in phenylketonuria. A neurophysiological study (VEP-P) with clinical, biochemical, and neuroradiological (MRI) correlations

scientific article published on 01 June 1998

TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype

scientific article published on 02 May 2012

Teaching Video NeuroImages: Clinical course of infantile ascending hereditary spastic paralysis

scientific article published on 01 February 2014

Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency

scientific article published on 20 February 2013

The development of auditory and visual evoked potentials in early treated phenylketonuric children

scientific article published in January 1991

The expanding spectrum of movement disorders in genetic epilepsies

scientific article published on 29 November 2019

The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term study

scientific article published on 10 August 2015

The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study

scientific article

The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency

scientific article published on 01 February 2006

Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency

scientific article published on 06 February 2013

Treatment monitoring of brain creatine deficiency syndromes: a 1H- and 31P-MR spectroscopy study

scientific article published on March 2007

Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect

scientific article published in January 2008

Two New Severe Mutations Causing Guanidinoacetate Methyltransferase Deficiency

scientific article published on 01 December 2000

Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome

scientific article

Tyrosine hydroxylase deficiency presenting with a biphasic clinical course

scientific article published in August 2007

Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy.

scientific article

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

scientific article published on 29 April 2010

Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease

scientific article published on 18 April 2012

Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency

scientific article

Very early pattern of movement disorders in sepiapterin reductase deficiency.

scientific article

Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency.

scientific article published in April 2007

Visual, auditory, and somatosensorial evoked potentials in early and late treated adolescents with phenylketonuria.

scientific article published in November 1994

White matter pathology in phenylketonuria

scientific article

Paulina is supported by:

About Paulina

Help