Manuela Tolve

Pubblicazioni

Titolo Pubblicato in Anno
The burden of epilepsy on long-term outcome of genetic developmental and epileptic encephalopathies: A single tertiary center longitudinal retrospective cohort study EPILEPSY & BEHAVIOR 2024
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism GENES 2023
Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency PARKINSONISM & RELATED DISORDERS 2022
Simultaneous determination of 5-hydroxytryptophan and 3-O-methyldopa in dried blood spot by UPLC-MS/MS: A useful tool for the diagnosis of L-amino acid decarboxylase deficiency JOURNAL OF CHROMATOGRAPHY. B 2021
Clinical variability at the mild end of BRAT1‐related spectrum:evidence from two families with genotype–phenotype discordance HUMAN MUTATION 2021
Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male MOLECULAR GENETICS AND METABOLISM REPORTS 2020
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 2020
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan JIMD REPORTS 2020
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene JOURNAL OF INHERITED METABOLIC DISEASE 2020
Pnkp deficiency mimicking a benign hereditary chorea. the misleading presentation of a neurodegenerative disorder PARKINSONISM & RELATED DISORDERS 2019
A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies MOLECULAR GENETICS AND METABOLISM 2019
Corrigendum to “Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation” [Mol. Genet. Metab. 122/1–2 (2017) 135–142] MOLECULAR GENETICS AND METABOLISM 2018
Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test METHODS AND PROTOCOLS 2018
PRICKLE1-related early onset epileptic encephalopathy AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 2018
Pyridoxine-5'-phosphate oxidase (pnpo) deficiency. clinical and biochemical alterations associated with the c.347g>a (pp. arg116gln) mutation MOLECULAR GENETICS AND METABOLISM 2017
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO) DATA IN BRIEF 2017
Genetic paradoxes in an italian family with PARK2 multiexon duplication MOVEMENT DISORDERS CLINICAL PRACTICE 2017
Genotype-phenotype correlation study through protein model of 3- methylcrotonyl-CoA carboxylase JOURNAL OF INHERITED METABOLIC DISEASE 2016
Outcome in short chain acyl-CoA dehydrogenase deficiency (SCADD) detected by newborn screening (NBS) JOURNAL OF INHERITED METABOLIC DISEASE 2016
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency MOLECULAR GENETICS AND METABOLISM 2015

Progetti di Ricerca

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