Francesco Pisani | Ricerc@Sapienza

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
Fenotipo epilettico e gestione terapeutica in un paziente con deficit di succinico semialdeide deidrogenasi: evoluzione dall’ infanzia all’ età adulta	Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2024	2024
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome	ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY	2024
Psychiatric Manifestations in Children and Adolescents with Inherited Metabolic Diseases	JOURNAL OF CLINICAL MEDICINE	2024
Misdiagnosis of functional neurological symptom disorders in paediatrics: Narrative review and relevant case report	CLINICAL CHILD PSYCHOLOGY AND PSYCHIATRY	2024
Neurophysiological Analysis of Cortical Myoclonic Tremor and Excessive Startle in ARHGEF9 Deficiency	MOVEMENT DISORDERS CLINICAL PRACTICE	2024
Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study	SEIZURE	2024
CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy	JOURNAL OF NEUROLOGY	2024
The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review	EUROPEAN JOURNAL OF PEDIATRICS	2024
Expiratory braking defines the breathing patterns of asphyxiated neonates during therapeutic hypothermia	FRONTIERS IN PEDIATRICS	2024
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes	MOVEMENT DISORDERS CLINICAL PRACTICE	2024
Giftedness and Twice-Exceptionality in Children Suspected of ADHD or Specific Learning Disorders: A Retrospective Study	SCI	2024
Multiple complex developmental disorder (MCDD): Did we throw the baby out with the bathwater too fast? A systematic review	CLINICAL CHILD PSYCHOLOGY AND PSYCHIATRY	2024
Managing intrafamilial maltreatment in psychiatric clinical care: Insights from an Italian adolescent cohort	ACTA BIO-MEDICA DE L'ATENEO PARMENSE	2024
Disturbo del neurosviluppo e parkinsonismo-distonia ad esordio tardivo nel deficit di DNAJC12	30° Congresso Nazionale SINPIA, 3° Convegno Nazionale degli Specializzandi in Neuropsichiatria Infantile	2024
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy	JOURNAL OF MEDICAL GENETICS	2024
Psychopathological Characteristics and Subjective Dimensions of Suicidality in Adolescents at Ultra High Risk (UHR) for Psychosis	EARLY INTERVENTION IN PSYCHIATRY	2024
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder	EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY	2024
Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene	STEM CELL RESEARCH	2023
EEG in neonatal seizures: where to look and what to see	EXPERT REVIEW OF NEUROTHERAPEUTICS	2023

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