Serena Galosi | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
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
Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology.	PARKINSONISM & RELATED DISORDERS	2024
Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes	MOVEMENT DISORDERS CLINICAL PRACTICE	2024
Biallelic variants of MRPS36 cause a new form of Leigh syndrome	MOVEMENT DISORDERS	2024
CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report	THE CEREBELLUM	2024
Psychogenic non-epileptic seizures and functional motor disorders in developmental age: A comparison of clinical and psychopathological features	EPILEPSY & BEHAVIOR	2023
The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans	FRONTIERS IN MOLECULAR NEUROSCIENCE	2023
Bradykinesia and dystonia	DYSTONIA	2023
Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease	GENES	2023
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments	PARKINSONISM & RELATED DISORDERS	2023
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum	MOVEMENT DISORDERS	2023
Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations	JOURNAL OF NEUROLOGY	2022
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia	HUMAN MOLECULAR GENETICS ONLINE	2022
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy	AMERICAN JOURNAL OF MEDICAL GENETICS. PART A	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
PHENOTYIPING AND DIAGNOSTIC TIMING IN NGS-DIAGNOSED GENETIC DEVELOPMENTAL ENCEPHALOPATHIES WITH EPILEPSY AND MOVEMENT DISORDERS	14th European Paediatric Neurology Society Congress	2022
Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders	JOURNAL OF NEURAL TRANSMISSION	2022
Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.	FRONTIERS IN NEUROLOGY	2022
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease	GENETICS IN MEDICINE	2022