Serena Galosi | Ricerc@Sapienza

Publications

Title	Published on	Year
Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy	MOVEMENT DISORDERS CLINICAL PRACTICE	2022
Diagnostic and Therapeutic Challenges of Comorbid ASD, ADHD and Psychosis: A Case Report	BEHAVIORAL SCIENCES	2022
Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling	FRONTIERS IN NEUROLOGY	2022
Co-occurring SYNJ1 and SHANK3 variants in a girl with intellectual disability, early-onset parkinsonism and catatonic episodes	PARKINSONISM & RELATED DISORDERS	2021
A NGS-based analysis on a large cohort of ataxic patients refines the clinical spectrum associated with SCA21	EUROPEAN JOURNAL OF NEUROLOGY	2021
Dissecting pain processing in adolescents with Non-Suicidal Self Injury: could suicide risk lurk among the electrodes?	EUROPEAN JOURNAL OF PAIN	2021
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile	CLINICAL EPIGENETICS	2021
NGS in hereditay ataxia: when rare becomes frequent	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2021
Functional neurological disorders in childhood and adolescence: Epidemiology and phenomenology of an emerging diagnostic and clinical challenge	EUROPEAN PSYCHIATRY	2021
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus	BRAIN	2021
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism	PARKINSONISM & RELATED DISORDERS	2020
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
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2020
Parkinsonism in children: Clinical classification and etiological spectrum	PARKINSONISM & RELATED DISORDERS	2020
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene	JOURNAL OF INHERITED METABOLIC DISEASE	2020
KMT2B-related disorders: Expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation	BRAIN	2020
Failure to thrive - An overlooked manifestation of KMT2B-related dystonia: A case presentation	BMC NEUROLOGY	2020
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review	PARKINSONISM & RELATED DISORDERS	2019