Francesca Nardecchia | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male	MOLECULAR GENETICS AND METABOLISM REPORTS	2020
Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features	MOVEMENT DISORDERS CLINICAL PRACTICE	2020
Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant	MOVEMENT DISORDERS CLINICAL PRACTICE	2020
Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: The challenge for the future guidelines	JOURNAL OF MEDICAL GENETICS	2020
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthasedeficient patients	MOLECULAR GENETICS AND METABOLISM	2020
Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples.	NUTRIENTS	2020
Parkinsonism in children: Clinical classification and etiological spectrum	PARKINSONISM & RELATED DISORDERS	2020
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness	ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY	2020
Clinical characterization of tremor in patients with phenylketonuria	MOLECULAR GENETICS AND METABOLISM	2019
Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels	ORPHANET JOURNAL OF RARE DISEASES	2019
Untreated PKU patients without intellectual disability: What do they teach us?	NUTRIENTS	2019
Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria	FRONTIERS IN NEUROSCIENCE	2018
Can untreated PKU patients escape from intellectual disability? A systematic review	ORPHANET JOURNAL OF RARE DISEASES	2018
Clinical and biochemical features in a patient with mitochondrial fission factor gene alteration	FRONTIERS IN GENETICS	2018
Neurotransmitter trafficking defect in a patient with clathrin (cltc) variation presenting with intellectual disability and early-onset parkinsonism	PARKINSONISM & RELATED DISORDERS	2018
Paradoxical sleep deprivation in rats causes a selective reduction in the expression of type-2 metabotropic glutamate receptors in the hippocampus	PHARMACOLOGICAL RESEARCH	2017
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency	EUROPEAN JOURNAL OF PEDIATRICS	2017
Predictability and inconsistencies in the cognitive outcome of early treated PKU patients	JOURNAL OF INHERITED METABOLIC DISEASE	2017
Presentazione atipica di neuropatia ottica di leber	ABSTRACT VIII Congresso Annuale SIMMESN Roma, 29.30 Novembre e 1 Dicembre 2017	2017
Leucodistrofia metacromatica: un caso di pubertà precoce	ABSTRACT VIII Congresso Annuale SIMMESN Roma, 29.30 Novembre e 1 Dicembre 2017	2017