MURGIA, ALESSANDRA

MURGIA, ALESSANDRA  

Dipartimento di Salute della Donna e del Bambino - SDB  

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Risultati 1 - 20 di 153 (tempo di esecuzione: 0.052 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
14q12 duplication including FOXG1: Is there a common age-dependent epileptic phenotype? 2014 CASSINA, MATTEOTOLDO, IRENEMURGIA, ALESSANDRAS. Sartori + BRAIN & DEVELOPMENT - -
A genotype-phenotype correlartion for GJB2 (connexin 26) deafness 2004 MURGIA, ALESSANDRALEONARDI, EMANUELA + JOURNAL OF MEDICAL GENETICS - -
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 - -
A new disease-causing mutation in the GAP-related domain of the NF1 gene 1993 ANGLANI, FRANCAMURGIA, ALESSANDRABEDIN, SILVIABERNARDI, FABIOLACLEMENTI, MAURIZIO + HUMAN MOLECULAR GENETICS - -
A NEW MUTATION IN THE GRD OF THE NF1 GENE 1993 MURGIA, ALESSANDRAANGLANI, FRANCACLEMENTI, MAURIZIO + - - -
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. 2009 Sartori SPolli RBettella EMURGIA, ALESSANDRA + AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - -
A novel deletion involving the Connexin-30 gene, del(GJB6-D13S1854) found in trans with mutations in the GJB2 gene (Connexin 26) in subjects with DFNB1 non syndromic hearing impairment 2005 LEONARDI EMURGIA, ALESSANDRA + JOURNAL OF MEDICAL GENETICS - -
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. 2010 MURGIA, ALESSANDRA + CLINICAL GENETICS - -
A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members 2018 CESCA, FEDERICABETTELLA, ELISAPOLLI, ROBERTACAMA, ELONASCIMEMI, PIETROSANTARELLI, ROSAMARIAMURGIA, ALESSANDRA INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY - -
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 - -
A PATHOGENIC ROLE OF THE X-LINKED CYCLIN-DEPENDENT KINASE-LIKE 5 AND ARISTALESS-RELATED HOMEOBOX GENES IN EPILEPTIC ENCEPHALOPATHY OF UNKNOWN ETIOLOGY WITH ONSET IN THE FIRST YEAR OF LIFE 2011 SARTORI SPOLLI RBETTELLA ETOLDO, IRENEPERILONGO, GIORGIOMURGIA, ALESSANDRA + JOURNAL OF CHILD NEUROLOGY - -
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 - -
A supervised classification of children with fragile X syndrome and controls driven by gait analysis data 2021 M. RomanatoF. SpolaorA. MurgiaZ. Sawacha + GAIT & POSTURE - -
Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation 2023 Polli, RobertaMurgia, Alessandra + CELLS - -
Adding structural information to the von Hippel-Lindau (VHL) tumor suppressor interaction network 2009 LEONARDI, EMANUELAMURGIA, ALESSANDRATOSATTO, SILVIO FEBS LETTERS - -
AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission 2014 MURGIA, ALESSANDRARoberta Polli + JOURNAL OF NEURODEVELOPMENTAL DISORDERS - -
Allele drop out and MECP2 genetic testing 2012 BETTELLA, ELISAPOLLI, ROBERTALEONARDI, EMANUELAMURGIA, ALESSANDRA - - -
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 - -
Amplification of the Xq28 FRAXE repeats: extreme phenotype variability? 1996 MURGIA, ALESSANDRAR. POLLIDRIGO, PAOLAZACCHELLO, FRANCO + AMERICAN JOURNAL OF MEDICAL GENETICS - -
Analisi del linkage con 5 marcatori del DNA del cromosoma 17 in famiglie con neurofibromatosi del Nord Est Italia. 1990 ANGLANI, FRANCAMURGIA, ALESSANDRACLEMENTI, MAURIZIO + - - Genetica e ritardo mentale.