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Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.

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Title: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Authors: Vecchia SD; IRCCS Stella Maris Foundation, Calambrone, via dei Giacinti 2, 56128, Pisa, Italy., Tessa A; IRCCS Stella Maris Foundation, Calambrone, via dei Giacinti 2, 56128, Pisa, Italy. aletessa@gmail.com., Dosi C; Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy., Baldacci J; Kode Solutions, Lungarno Galileo Galilei 1, 56125, Pisa, Italy., Pasquariello R; IRCCS Stella Maris Foundation, Calambrone, via dei Giacinti 2, 56128, Pisa, Italy., Antenora A; Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, 80131, Naples, Italy., Astrea G; IRCCS Stella Maris Foundation, Calambrone, via dei Giacinti 2, 56128, Pisa, Italy., Bassi MT; Laboratory of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, 23842, Lecco, Italy., Battini R; IRCCS Stella Maris Foundation, Calambrone, via dei Giacinti 2, 56128, Pisa, Italy.; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, 56125, Pisa, Italy., Casali C; Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, 40100, Latina, Italy., Cioffi E; Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, 40100, Latina, Italy., Conti G; Neurology Unit and Neurogenetics Laboratories, Meyer Children University Hospital, University of Florence, 50139, Florence, Italy., De Michele G; Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, 80131, Naples, Italy., Ferrari AR; IRCCS Stella Maris Foundation, Calambrone, via dei Giacinti 2, 56128, Pisa, Italy., Filla A; Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, 80131, Naples, Italy., Fiorillo C; Neuromuscular Disorders Unit, IRCCS Istituto Giannina Gaslini, DINOGMI, University of Genoa, Genoa, Italy., Fusco C; Child Neurology Unit, Pediatric Neurophysiology Laboratory, Department of Pediatrics, Azienda USL-IRCCS Di Reggio Emilia, 42122, Reggio Emilia, Italy., Gallone S; Clinical Neurogenetics, Department Neurosciences, Az. Osp. Città della Salute e della Scienza di Torino, 1026, Torino, Italy., Germiniasi C; Neuromuscular Unit, Scientific Institute IRCCS E. Medea, Bosisio Parini, 23842, Lecco, Italy., Guerrini R; Neurology Unit and Neurogenetics Laboratories, Meyer Children University Hospital, University of Florence, 50139, Florence, Italy., Haggiag S; Department of Neurology, Azienda Ospedaliera San Camillo Forlanini, 00152, Rome, Italy., Lopergolo D; IRCCS Stella Maris Foundation, Calambrone, via dei Giacinti 2, 56128, Pisa, Italy.; Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, 53100, Siena, Italy., Martinuzzi A; Scientific Institute IRCCS E. Medea, Unità Operativa Conegliano, 31015, Treviso, Italy., Melani F; Neurology Unit and Neurogenetics Laboratories, Meyer Children University Hospital, University of Florence, 50139, Florence, Italy., Mignarri A; Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, 53100, Siena, Italy., Panzeri E; Laboratory of Molecular Biology, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, 23842, Lecco, Italy., Pini A; Neuromuscular Pediatric Unit, IRRCS Istituto delle Scienze Neurologiche di Bologna, 40139, Bologna, Italy., Pinto AM; Medical Genetics Unit, University of Siena, Azienda Ospedaliera Universitaria Senese, 53100, Siena, Italy., Pochiero F; Department of Metabolic and Muscular, Meyer Children's University Hospital, 50139, Florence, Italy., Primiano G; Neurofisiopathology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168, Rome, Italy., Procopio E; Department of Metabolic and Muscular, Meyer Children's University Hospital, 50139, Florence, Italy., Renieri A; Medical Genetics Unit, University of Siena, Azienda Ospedaliera Universitaria Senese, 53100, Siena, Italy., Romaniello R; Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, 23842, Lecco, Italy., Sancricca C; Neurofisiopathology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168, Rome, Italy., Servidei S; Neurofisiopathology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168, Rome, Italy.; Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, 00168, Rome, Italy., Spagnoli C; Child Neurology Unit, Pediatric Neurophysiology Laboratory, Department of Pediatrics, Azienda USL-IRCCS Di Reggio Emilia, 42122, Reggio Emilia, Italy., Ticci C; IRCCS Stella Maris Foundation, Calambrone, via dei Giacinti 2, 56128, Pisa, Italy.; Department of Metabolic and Muscular, Meyer Children's University Hospital, 50139, Florence, Italy., Rubegni A; IRCCS Stella Maris Foundation, Calambrone, via dei Giacinti 2, 56128, Pisa, Italy., Santorelli FM; IRCCS Stella Maris Foundation, Calambrone, via dei Giacinti 2, 56128, Pisa, Italy. filippo3364@gmail.com.
Source: Journal of neurology [J Neurol] 2022 Jan; Vol. 269 (1), pp. 437-450. Date of Electronic Publication: 2021 Sep 06.
Publication Type: Journal Article; Multicenter Study; Systematic Review
Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:1432-1459
DOI:10.1007/s00415-021-10792-3