Francesca Nardecchia | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism	JOURNAL OF LIPID RESEARCH	2024
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome	ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY	2024
Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights	MOLECULAR GENETICS AND METABOLISM	2024
Psychiatric Manifestations in Children and Adolescents with Inherited Metabolic Diseases	JOURNAL OF CLINICAL MEDICINE	2024
Biallelic variants of MRPS36 cause a new form of Leigh syndrome	MOVEMENT DISORDERS	2024
Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review	MOLECULAR GENETICS AND METABOLISM	2023
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans	FRONTIERS IN MOLECULAR NEUROSCIENCE	2023
Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuria	MOLECULAR GENETICS AND METABOLISM	2023
Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient	MOVEMENT DISORDERS CLINICAL PRACTICE	2023
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments	PARKINSONISM & RELATED DISORDERS	2023
Metabolic control and clinical outcome in adolescents with phenylketonuria	MOLECULAR GENETICS AND METABOLISM	2023
Looking back at the neonatal period in early-treated phenylketonuric patients	PEDIATRIC RESEARCH	2022
Engineering new metabolic pathways in isolated cells for the degradation of guanidinoacetic acid and simultaneous production of creatine	MOLECULAR THERAPY. METHODS & CLINICAL DEVELOPMENT	2022
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2022
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience	INTERNATIONAL JOURNAL OF NEONATAL SCREENING	2022
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease	GENETICS IN MEDICINE	2022
Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy	MOVEMENT DISORDERS CLINICAL PRACTICE	2022
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts	JOURNAL OF NEUROLOGY	2021
Intellectual disability and brain creatine deficit: Phenotyping of the genetic mouse model for GAMT deficiency	GENES	2021
Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuria	MOLECULAR GENETICS AND METABOLISM REPORTS	2020