Luca Pollini | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
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
CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report	THE CEREBELLUM	2024
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
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum	MOVEMENT DISORDERS	2023
A diagnosis of progressive myoclonic ataxia guided by blood biomarkers: Expert commentary	PARKINSONISM & RELATED DISORDERS	2022
Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders	JOURNAL OF NEURAL TRANSMISSION	2022
Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy	MOVEMENT DISORDERS CLINICAL PRACTICE	2022
Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling	FRONTIERS IN NEUROLOGY	2022
Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male	MOLECULAR GENETICS AND METABOLISM REPORTS	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
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene	JOURNAL OF INHERITED METABOLIC DISEASE	2020
Attention in Parkinson’s disease with fatigue: evidence from the attention network test	JOURNAL OF NEURAL TRANSMISSION	2017