Francesco Pisani | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'	JOURNAL OF NEUROMUSCULAR DISEASES	2023
Estensione del fenotipo epilettico nel deficit di diidropteridina reduttasi (DHPR): una paziente con pattern tipo Lennox-Gastaut e stato di male epilettico focale dopo stroke metabolico	Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2023	2023
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum	MOVEMENT DISORDERS	2023
Efficacy of the anti-seizure medications in acute symptomatic neonatal seizures caused by stroke. A systematic review	ACTA BIOMEDICA	2022
The duration of successive epileptic seizures is monotonically correlated in neonates	NEUROPHYSIOLOGIE CLINIQUE-CLINICAL NEUROPHYSIOLOGY	2022
Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review	BEHAVIOURAL NEUROLOGY	2022
Neonatal seizures—diagnostic options and treatment recommendations\|Neugeborenenanfälle: diagnostische Optionen und Therapieempfehlungen	ZEITSCHRIFT FÜR EPILEPTOLOGIE	2022
CARFS7: A guide and proforma for reading a preterm neonate's EEG	NEUROPHYSIOLOGIE CLINIQUE-CLINICAL NEUROPHYSIOLOGY	2022
Intraventricular hemorrhage in preterm newborn: Predictors of mortality	ACTA BIOMEDICA	2022
Herpes zoster preceding neuromyelitis optica spectrum disorder: casual or causal relationship? A systematic literature review	JOURNAL OF NEUROVIROLOGY	2022
Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis-Literature Review	CASE REPORTS IN PEDIATRICS	2022
Short-term morbidity and types of intrapartum hypoxia in the newborn with metabolic acidaemia: a retrospective cohort study	BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY	2022
Bionic for Training: Smart Framework Design for Multisensor Mechatronic Platform Validation	SENSORS	2022
Beyond neonatal seizures - epileptic evolution in preterm newborns: a systematic review and meta-analysis	EPILEPTIC DISORDERS	2022
Video-based solutions for newborn monitoring	The Internet of Medical Things: Enabling technologies and emerging applications	2022
Epilepsy, electroclinical features, and long-term outcomes in Pitt–Hopkins syndrome due to pathogenic variants in the TCF4 gene	EUROPEAN JOURNAL OF NEUROLOGY	2022
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I	GENES, CHROMOSOMES & CANCER	2022
A new CHD2 variant: not only severe epilepsy—a case report	ACTA NEUROLOGICA BELGICA	2022
Reassessment of the NF1 Variants of Unknown Significance Found During the 20-Year Activity of a Genetics Diagnostic Laboratory	EUROPEAN JOURNAL OF MEDICAL GENETICS	2022
Heart rate variability in neonatal seizures: Investigation and implications for management	NEUROPHYSIOLOGIE CLINIQUE-CLINICAL NEUROPHYSIOLOGY	2021