C. Carducci

发表

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.

M. Zeviani, A. Torroni, P. Barboni, 1997, American journal of human genetics.

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan

N. Blau, J. Okun, G. Hoffmann, 2020, JIMD reports.

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

F. Chiarotti, V. Leuzzi, C. Carducci, 2006, Journal of Inherited Metabolic Disease.

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

M. Tosetti, G. Cioni, R. Battini, 2002, Molecular genetics and metabolism.

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

M. Robello, V. Leuzzi, S. Thellung, 2012, BMC Neuroscience.

Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies.

G. Cioni, R. Battini, V. Leuzzi, 2002, Clinical chemistry.

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

N. Blau, A. Burlina, P. Strisciuglio, 2010, Clinical genetics.

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

F. Cardona, V. Leuzzi, C. Carducci, 2002, Neurology.

A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia.

H. Teive, C. Carducci, L. Werneck, 2007, Arquivos de neuro-psiquiatria.

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

R. Battini, V. Leuzzi, C. Carducci, 2006, Clinica chimica acta; international journal of clinical chemistry.

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

M. Matricardi, V. Leuzzi, M. Bianchi, 2006, Molecular genetics and metabolism.

The Genetic Landscape and Epidemiology of Phenylketonuria.

V. Stoppioni, J. Vockley, B. Burton, 2020, American journal of human genetics.

Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test

A. Pizzuti, A. Angeloni, V. Leuzzi, 2018, Methods and protocols.

Methylenetetrahydrofolate reductase homozygous mutation in a young boy with cerebellar infarction

A. Spalice, P. Iannetti, C. Carducci, 2009, Pediatric reports.

LHON mutations in Italian patients affected by multiple sclerosis

A. Torroni, M. Salvetti, V. Leuzzi, 1997, Acta neurologica Scandinavica.

Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations.

N. Blau, S. Garbade, N. Himmelreich, 2022, Molecular genetics and metabolism.

Two novel PAH gene mutations detected in Italian phenylketonuric patients

P. Bosco, F. Calì, V. Romano, 1997, Human Genetics.

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

A. Angeloni, I. Bucci, C. Dionisi-Vici, 2022, International journal of neonatal screening.

Psychiatric disorders in adolescent and young adult patients with phenylketonuria.

F. Chiarotti, V. Leuzzi, Francesca Nardecchia, 2016, Molecular genetics and metabolism.

Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.

I. Nogués, R. Guerrini, A. Paiardini, 2017, Molecular genetics and metabolism.

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

F. Chiarotti, V. Leuzzi, Francesca Nardecchia, 2015, Molecular genetics and metabolism.

Age-Related Psychophysiological Vulnerability to Phenylalanine in Phenylketonuria

D. Mannarelli, C. Pauletti, F. Fattapposta, 2014, Front. Pediatr..

European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance.

O. Sommerburg, C. Castellani, M. Proesmans, 2022, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Outcomes of early repeat sweat testing in infants with cystic fibrosis transmembrane conductance regulator‐related metabolic syndrome/CF screen‐positive, inconclusive diagnosis

G. Cimino, M. Lucarelli, A. Castaldo, 2021, Pediatric pulmonology.

Molecular genetics and diagnosis of phenylketonuria: state of the art

N. Blau, C. Carducci, Nan-ping Shen, 2014, Expert review of molecular diagnostics.

Molecular genetics and diagnosis of phenylketonuria : state of the art Expert

N. Blau, C. Carducci, Nan-ping Shen, 2014 .

KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes

A. Angeloni, V. Leuzzi, C. Carducci, 2020, International journal of molecular sciences.

Mutational analysis of ABCC2 gene in two siblings with neonatal‐onset Dubin Johnson syndrome

E. Poggiogalle, L. Pacifico, G. Maggiore, 2010, Clinical genetics.

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

M. Tosetti, M. Bianchi, C. Carducci, 2000, Journal of Inherited Metabolic Disease.

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism

A. Angeloni, M. Mastrangelo, V. Leuzzi, 2023, Genes.

Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency.

R. Battini, M. Mastrangelo, C. Spagnoli, 2022, Parkinsonism & related disorders.

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

M. Tosetti, G. Cioni, R. Battini, 2007, AJNR. American journal of neuroradiology.

Predictability and inconsistencies in the cognitive outcome of early treated PKU patients

F. Chiarotti, V. Leuzzi, Francesca Nardecchia, 2017, Journal of Inherited Metabolic Disease.

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

M. Tosetti, D. Montanaro, T. Popolizio, 2007, Journal of Inherited Metabolic Disease.

A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies.

R. Battini, A. Paiardini, M. Bertoldi, 2019, Molecular genetics and metabolism.

Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.

N. Blau, M. Bertoldi, B. Thöny, 2019, Molecular genetics and metabolism.

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?

A. V. van Kuilenburg, L. Zoetekouw, A. Polizzi, 2015, JIMD reports.

Successful Pregnancy in a Patient with L‐Amino Acid Decarboxylase Deficiency: Therapeutic Management and Clinical Outcome

M. Mastrangelo, V. Leuzzi, C. Carducci, 2018, Movement disorders clinical practice.

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

V. Leuzzi, C. Carducci, C. Carducci, 2013, Brain and Development.

The Spectrum of Early Movement Disorders in Congenital Defects of Biogenic Amine Metabolism

M. Mastrangelo, V. Leuzzi, C. Carducci, 2015, Journal of Pediatric Neurology.

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

N. Blau, F. Vigevano, V. Leuzzi, 2012, Journal of child neurology.

Tyrosine Hydroxylase Deficiency Presenting with a Biphasic Clinical Course

V. Leuzzi, C. Carducci, I. Antonozzi, 2007, Neuropediatrics.

A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia

A. Filla, G. Michele, S. Striano, 2007, Journal of Neurology.

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

Massimo Zeviani, Rubens Belfort, Barbara Simionati, 2006, American journal of human genetics.

Biochemical features of mtDNA 14484 (ND6/m64V) point mutation associated with Leber's hereditary optic neuropathy

A. Ghelli, V. Carelli, G. Lenaz, 1999, Annals of neurology.

Very early pattern of movement disorders in sepiapterin reductase deficiency

A. Angeloni, V. Leuzzi, C. Carducci, 2013, Neurology.

ORIGINAL RESEARCH Treatment Monitoring of Brain Creatine Deficiency Syndromes: A 1 H- and 31 P-MR Spectroscopy Study

M. Tosetti, G. Cioni, R. Battini, 2007 .

Two new severe mutations causing guanidinoacetate methyltransferase deficiency.

V. Leuzzi, C. Carducci, I. Antonozzi, 2000, Molecular genetics and metabolism.

Screening for dopa-responsive dystonia in patients with scans without evidence of dopaminergic deficiency (SWEDD)

Sabina Pappatà, Francesco Saccà, S. Pappatà, 2014, Journal of Neurology.

Clinical variability at the mild end of BRAT1‐related spectrum: Evidence from two families with genotype–phenotype discordance

E. Bertini, G. Vasco, E. Valente, 2021, Human mutation.

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

F. Chiarotti, V. Leuzzi, C. Carducci, 2012, JIMD reports.

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

J. Friedman, A. Angeloni, V. Leuzzi, 2015, Molecular genetics and metabolism.

Pregnancy in a Methylmalonic Acidemia Patient With Kidney Transplantation: A Case Report

M. Ugarte, R. Lubrano, C. Carducci, 2013, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.

N. Blau, A. Burlina, M. Donati, 2020, Molecular genetics and metabolism.

Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO)

I. Nogués, R. Guerrini, A. Paiardini, 2017, Data in brief.

Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male

V. Leuzzi, Francesca Nardecchia, C. Carducci, 2020, Molecular genetics and metabolism reports.

The STR252 – IVS10nt546 – VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples

P. Bosco, A. Piazza, I. Dianzani, 1997, Human Genetics.

Substitution of Leu for Pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance.

R. Taramelli, M. Ferrari, S. Taylor, 1993, Human molecular genetics.

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

S. Seri, V. Leuzzi, A. Cerquiglini, 2000, Journal of Inherited Metabolic Disease.

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

M. Robello, V. Leuzzi, S. Thellung, 2012, BMC Neuroscience.

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics

F. Calì, V. Romano, M. Vinci, 2010, Experimental & Molecular Medicine.

Mutational analysis of ABCC2 gene in two siblings with neonatal‐onset Dubin Johnson syndrome

E. Poggiogalle, L. Pacifico, C. Carducci, 2010, Clinical genetics.

Screening of mtDNA mutations in Italian LHON pedigrees

C. Terregino, V. Leuzzi, C. Carducci, 1996, Journal of Inherited Metabolic Disease.