11573/1721004 - 2024 -
CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report De Riggi, Martina; De Giorgi, Agnese; Pollini, Luca; Angelini, Luca; Paparella, Giulia; Cannavacciuolo, Antonio; Birreci, Daniele; Costa, Davide; Tessa, Alessandra; Natale, Gemma; Fiorelli, Marco; Galatolo, Daniele; Santorelli, Filippo Maria; Galosi, Serena; Bologna, Matteo - 01i Case report
rivista: THE CEREBELLUM (New York: Springer
London: Martin Dunitz Ltd, 2002-) pp. - - issn: 1473-4230 - wos: WOS:001314854000001 (0) - scopus: 2-s2.0-85204207101 (0)
11573/1703907 - 2024 -
Fenotipo epilettico e gestione terapeutica in un paziente con deficit di succinico semialdeide deidrogenasi: evoluzione dall’ infanzia all’ età adulta Mastrangelo, Mario; Greco, Carlo; Bove, Rossella; Ricciardi, Giacomina; Pollini, Luca; Leuzzi, Vincenzo; Pisani, Francesco - 04d Abstract in atti di convegno
congresso: Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2024 (Roma)
libro: Lega Italiana Contro l’Epilessia – Riunione Policentrica in Epilettologia 2024 - ()
11573/1711079 - 2023 -
GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum Galosi, Serena; Novelli, M; Di Rocco, M; Flex, E; Messina, E; Pollini, Luca; Parrini, E; Pisani, F; Guerrini, Renzo; Leuzzi, V; Martinelli, S - 01f Lettera, Nota
rivista: MOVEMENT DISORDERS (New York, N.Y. : John Wiley & Sons) pp. 2313-2314 - issn: 1531-8257 - wos: WOS:001063564300001 (3) - scopus: 2-s2.0-85168895621 (4)
11573/1689255 - 2023 -
Improvement of Movement Disorder and Neurodevelopment under Selegiline in a CLTC-Deficient Patient Nardecchia, F; Bove, R; Pollini, L; Giannini, Mt; Manti, F; De Giorgi, A; Papoff, P; Martinelli, S; Leuzzi, V - 01i Case report
rivista: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. 1430-1432 - issn: 2330-1619 - wos: WOS:001032414100001 (2) - scopus: 2-s2.0-85165351494 (2)
11573/1705193 - 2023 -
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments Novelli, Maria; Galosi, Serena; Zorzi, Giovanna; Martinelli, Simone; Capuano, Alessandro; Nardecchia, Francesca; Granata, Tiziana; Pollini, Luca; Di Rocco, Martina; Marras, Carlo Efisio; Nardocci, Nardo; Leuzzi, Vincenzo - 01g Articolo di rassegna (Review)
rivista: PARKINSONISM & RELATED DISORDERS (Elsevier Science:Molenwarf 1, 1014 AG Amsterdam The Netherlands:011 31 20 4853597, EMAIL: p.j.bishop@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 31 20 4853249) pp. - - issn: 1353-8020 - wos: WOS:001010021100001 (15) - scopus: 2-s2.0-85154532335 (14)
11573/1666778 - 2022 -
Fever-Induced and Early Morning Paroxysmal Dyskinesia in a Man With GNB1 Encephalopathy Galosi, Serena; Pollini, Luca; Nardecchia, Francesca; Cellini, Elena; Guerrini, Renzo; Leuzzi, Vincenzo - 01i Case report
rivista: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. - - issn: 2330-1619 - wos: WOS:000852575400012 (4) - scopus: 2-s2.0-85137748249 (4)
11573/1666784 - 2022 -
Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling Galosi, Serena; Pollini, Luca; Novelli, Maria; Bernardi, Katerina; Di Rocco, Martina; Martinelli, Simone; Leuzzi, Vincenzo - 01a Articolo in rivista
rivista: FRONTIERS IN NEUROLOGY (Lausanne: Frontiers Research Foundation, 2010-) pp. - - issn: 1664-2295 - wos: WOS:000843322400001 (8) - scopus: 2-s2.0-85136516821 (9)
11573/1652994 - 2022 -
Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders Passaretti, Massimiliano; Pollini, Luca; Paparella, Giulia; De Biase, Alessandro; Colella, Donato; Angelini, Luca; Galosi, Serena; Manti, Filippo; Guerra, Andrea; Leuzzi, Vincenzo; Berardelli, Alfredo; Bologna, Matteo - 01a Articolo in rivista
rivista: JOURNAL OF NEURAL TRANSMISSION (Wien : Springer) pp. 1011-1021 - issn: 1435-1463 - wos: WOS:000824240600001 (1) - scopus: 2-s2.0-85134333674 (1)
11573/1615155 - 2022 -
A diagnosis of progressive myoclonic ataxia guided by blood biomarkers: Expert commentary Pollini, L.; Tijssen, M. A. J. - 01m Editorial/Introduzione in rivista
rivista: PARKINSONISM & RELATED DISORDERS (Elsevier Science:Molenwarf 1, 1014 AG Amsterdam The Netherlands:011 31 20 4853597, EMAIL: p.j.bishop@elsevier.com, INTERNET: http://www.elsevier.com, Fax: 011 31 20 4853249) pp. 127-128 - issn: 1353-8020 - wos: WOS:000783076000002 (0) - scopus: 2-s2.0-85121100800 (0)
11573/1471056 - 2020 -
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene Marti-Sanchez, L.; Baide-Mairena, H.; Marce-Grau, A.; Pons, R.; Skouma, A.; Lopez-Laso, E.; Sigatullina, M.; Rizzo, C.; Semeraro, M.; Martinelli, D.; Carrozzo, R.; Dionisi-Vici, C.; Gonzalez-Gutierrez-Solana, L.; Correa-Vela, M.; Ortigoza-Escobar, J. D.; Sanchez-Montanez, A.; Vazquez, E.; Delgado, I.; Aguilera-Albesa, S.; Yoldi, M. E.; Ribes, A.; Tort, F.; Pollini, L.; Galosi, S.; Leuzzi, V.; Tolve, M.; Perez-Gay, L.; Aldamiz-Echevarria, L.; Del Toro, M.; Arranz, A.; Roelens, F.; Urreizti, R.; Artuch, R.; Macaya, A.; Perez-Duenas, B. - 01a Articolo in rivista
rivista: JOURNAL OF INHERITED METABOLIC DISEASE (Kluwer Academic Publishers:Journals Department, PO Box 322, 3300 AH Dordrecht Netherlands:011 31 78 6576050, EMAIL: frontoffice@wkap.nl, kluweronline@wkap.nl, INTERNET: http://www.kluwerlaw.com, Fax: 011 31 78 6576254) pp. - - issn: 0141-8955 - wos: WOS:000563083900001 (27) - scopus: 2-s2.0-85089444872 (22)
11573/1386553 - 2020 -
Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male Pollini, L.; Tolve, M.; Nardecchia, F.; Galosi, S.; Carducci, C.; Di Carlo, E.; Carducci, C.; Leuzzi, V. - 01a Articolo in rivista
rivista: MOLECULAR GENETICS AND METABOLISM REPORTS (Amsterdam : Elsevier) pp. 100560- - issn: 2214-4269 - wos: WOS:000514810400017 (2) - scopus: 2-s2.0-85077397074 (2)
11573/1434595 - 2020 -
KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes Pollini, Luca; Galosi, Serena; Tolve, Manuela; Caputi, Caterina; Carducci, Carla; Angeloni, Antonio; Leuzzi, Vincenzo - 01g Articolo di rassegna (Review)
rivista: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (Basel: MDPI Center) pp. 5802- - issn: 1422-0067 - wos: WOS:000565055500001 (17) - scopus: 2-s2.0-85089568443 (17)
11573/1386557 - 2019 -
Parkinsonism, Intellectual Disability, and Catatonia in a Young Male With MECP2 Variant Pollini, L.; Galosi, S.; Nardecchia, F.; Musacchia, F.; Castello, R.; Nigro, V.; Leuzzi, V. - 01a Articolo in rivista
rivista: MOVEMENT DISORDERS CLINICAL PRACTICE (Hoboken, NJ : John Wiley & Sons, 2014-) pp. 118-119 - issn: 2330-1619 - wos: WOS:000498133600001 (5) - scopus: 2-s2.0-85075480182 (6)
11573/1498087 - 2018 -
Expanding the phenotype of the rare neuronal ceroid lipofuscinoses (ncl) 10 Di Maggio, C; Bernardini, L; Masuelli, L; Aiello, Chiara; Giorgi, D; Pollini, L; Torres, B; Bertini Enrico, Silvio; Leuzzi, V - 04f Poster
congresso: SSIEM 2018: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Athens, Greece, 4-7 September 2018 (Athens, Greece)
libro: Volume 41, Issue 1 Supplement, September 2018 SSIEM 2018: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Athens, Greece, 4-7 September 2018 - ()
11573/957792 - 2017 -
Attention in Parkinson’s disease with fatigue: evidence from the attention network test Pauletti, Caterina; Mannarelli, Daniela; Locuratolo, Nicoletta; Pollini, Luca; Curra', Antonio; Marinelli, Lucio; Rinalduzzi, Steno; Fattapposta, Francesco - 01a Articolo in rivista
rivista: JOURNAL OF NEURAL TRANSMISSION (Springer-Verlag New York Incorporated:175 Fifth Avenue:New York, NY 10010:(212)460-1500, EMAIL: orders@springer-ny.com, INTERNET: http://www.springer-ny.com, Fax: (212)533-3503) pp. 335-345 - issn: 0300-9564 - wos: WOS:000394433100005 (28) - scopus: 2-s2.0-84992378359 (32)