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Mostrati risultati da 1 a 20 di 153
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis 2023 Leonardi, EmanuelaMurgia, Alessandra + THE JOURNAL OF CLINICAL INVESTIGATION - -
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
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 - -
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants 2023 Murgia, AlessandraLeonardi, Emanuela + EPIGENOMICS - -
A Supervised Classification of Children with Fragile X Syndrome and Controls Based on Kinematic and sEMG Parameters 2022 Weronika Joanna PiatkowskaFabiola SpolaorMarco RomanatoRoberta PolliAlessandra MurgiaZimi Sawacha + APPLIED SCIENCES - -
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome 2022 Leonardi, EmanuelaMurgia, AlessandraOgnibene, Davide + GENOME MEDICINE - -
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 - -
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome 2022 Emanuela LeonardiAlessandra MurgiaDavide OgnibeneJohn Taylor + GENOME MEDICINE - -
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 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 - -
Von Hippel-Lindau disease and multispecialist team 2021 Pavesi G.Feletti A.Scarpa B.Schiavi F.Taschin E.Zanoletti E.Piermarocchi S.Murgia A. + JOURNAL OF NEUROSURGICAL SCIENCES - -
A supervised classification of children with fragile X syndrome and controls driven by gait analysis data 2021 W. PiatkowskaM. RomanatoF. SpolaorA. MurgiaZ. Sawacha + GAIT & POSTURE - -
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 - -
PPP2R5D variants in patients with variable neurodevelopmental phenotype 2020 Maria Cristina AspromonteEmanuela LeonardiRoberta PolliElisa BettellaMarilena CameranAlessandra Murgia + - - PPP2R5D variants in patients with variable neurodevelopmental phenotype
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” 2020 Leonardi E.Bettella E.Aspromonte M. C.Polli R.Sartori S.Murgia A. + FRONTIERS IN NEUROLOGY - -
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 - -
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A) 2020 Leonardi E.Murgia A. + JOURNAL OF GENETICS AND GENOMICS - -
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 2020 Leonardi E.Bellini M.Aspromonte M. C.Polli R.Bettella E.Cainelli E.Sartori S.Boniver C.Murgia A. + GENES - -
Mostrati risultati da 1 a 20 di 153
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