POLLI, ROBERTA

POLLI, ROBERTA  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During Gait 2025 Beghetti F.Piatkowska W.Guiotto A.Polli R.Bettella E.di Giorgio E.Sawacha Z. + JOURNAL OF INTELLECTUAL DISABILITY RESEARCH - -
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge 2025 Aspromonte, Maria CristinaDel Conte, AlessioPolli, RobertaBettella, ElisaNosadini, MargheritaPiovesan, DamianoTosatto, Silvio C EMurgia, AlessandraLeonardi, Emanuela + HUMAN GENETICS - -
Neurobehavioral Outcomes Relate to Activation Ratio in Female Carriers of Fragile X Syndrome Full Mutation: Two Pediatric Case Studies 2025 Di Giorgio E.Benavides Varela S.Porru A.Caviola S.Lunghi M.Rigo P.Mioni G.Calignano G.Valenza E.Beghetti F.Polli R.Sawacha Z.Murgia A. + INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - -
Application of dynamic time warping to Fragile X syndrome’s gait patterns : a supervised approach 2024 F. BeghettiD. VaragnoloF. SpolaorA. GuiottoE. Di GiorgioR. PolliA. MurgiaZ. Sawacha + - - Poster Congresso SIAMOC 2024
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 2024 Piero FariselliManuel GiolloSilvio C E TosattoFederica LovisaElisa BettellaFederica CescaRoberta PolliStefano SartoriIrene ToldoMaria C AspromonteEmanuela LeonardiAlessandra MurgiaRui ChenGiovanni MinerviniAlexander M Monzon + GENOME BIOLOGY - -
CLASSIFICATION OF DIFFERENT FRAGILE X SYNDROME PHENOTYPES : A CLUSTER ANALYSIS APPROACH 2024 Fabiola SpolaorAnnamaria GuiottoGiulio RigoniWeronika PiatkowskaElisa Di GiorgioRoberta PolliAlessandra MurgiaZimi Sawacha + - - ESB proceedings
Unsupervised cluster approach to identify possible associations between phenotypes and gait motor control in children with Fragile X syndrome 2024 Fabiola SpolaorFederica BeghettiAnnamaria GuiottoElisa Di GiorgioRoberta PolliGiulio RigoniAlessandra MurgiaZimi Sawacha + GAIT & POSTURE - -
Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation 2023 Polli, RobertaMurgia, Alessandra + CELLS - -
Are gait kinematics and muscle activity influenced by mosaicism type in Fragile X Syndrome? 2023 Spolaor, FabiolaGuiotto, AnnamariaPiatkowska, WeronikaDi Giorgio, ElisaPolli, RobertaMurgia, AlessandraSawacha, Zimi + GAIT & POSTURE - Gait & Posture
ARE KINEMATICS AND MUSCULAR FUNCTION ASSOCIATED WITH MOSAICISM TYPE IN MALES WITH FRAGILE X SYNDROME? 2023 Fabiola SpolaorAnnamaria GuiottoW. PiatkowskaRoberta PolliAlessandra MurgiaZimi Sawacha + - - ESB 2023 Proceedings
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations 2023 Emanuela LeonardiMaria Cristina AspromonteElisa BettellaRoberta PolliGiulia BonatoSerena PellegrinMiryam CarecchioAlessandra Murgia + EUROPEAN JOURNAL OF HUMAN GENETICS - -
A Supervised Classification of Children with Fragile X Syndrome and Controls Based on Kinematic and sEMG Parameters 2022 Fabiola SpolaorMarco RomanatoRoberta PolliAlessandra MurgiaZimi Sawacha + APPLIED SCIENCES - -
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow 2022 Murgia, AlessandraLeonardi, EmanuelaPolli, Roberta + JAMA NETWORK OPEN - -
A Missense de Novo Variant in the CASK -interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia 2021 Leonardi E.Polli R.Murgia A. + NEUROPEDIATRICS - -
Feasibility and reliability assessment of video-based motion analysis and surface electromyography in children with fragile x during gait 2021 Sawacha Z.Spolaor F.Piatkowska W. J.Cibin F.Guiotto A.Polli R.Murgia A. + SENSORS - -
Impact of the COVID-19 Italian Lockdown on the Physiological and Psychological Well-Being of Children with Fragile X Syndrome and Their Families 2021 Di Giorgio, ElisaPolli, RobertaLunghi, MarcoMurgia, Alessandra INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH - -
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 2020 Leonardi E.Aspromonte M. C.Polli R.Bettella E.Cainelli E.Sartori S.Boniver C.Murgia A. + GENES - -
Alterations in surface EMG during gait in children with Fragile X Syndrome 2020 Sawacha Z.Spolaor F.Piatkowska W.Cibin F.Pavan D.Guiotto A.Polli R.Murgia A. + GAIT & POSTURE - -
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) 2020 Emanuela LeonardiRoberta PolliAlessandra Murgia + EUROPEAN JOURNAL OF MEDICAL GENETICS - -
Cluster analysis of electromyographic data in children with Fragile X Syndrome and controls 2020 Piatkowska WSawacha ZSpolaor FRomanato MCibin FPavan DGuiotto APolli RMurgia A + GAIT & POSTURE - -