BERTOLIN, CINZIA

BERTOLIN, CINZIA  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset 2006 VAZZA, GIOVANNIBERTOLIN, CINZIAZORTEA, MICHELAMOSTACCIUOLO, MARIA LUISA + NEUROMUSCULAR DISORDERS - -
A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis. 2020 Francesca CaroppoElena CamaCinzia BertolinLeonardo SalviatiAnna Belloni Fortina + CLINICAL CASE REPORTS - -
An adult patient with 3-methylglutaconic aciduria type 1 and movement disorders 2022 Lerjefors, LBonato, GBertolin, CSalviati, LCarecchio, M + JOURNAL OF NEUROLOGY - -
Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder. 2011 BERTOLIN, CINZIAVETTORI, ANDREAPERINI, GIULIAMOSTACCIUOLO, MARIA LUISAVAZZA, GIOVANNI + JOURNAL OF HUMAN GENETICS - -
Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy 2020 Cinzia BertolinGianni SorarùElena PegoraroGianni Sorarù + NEUROBIOLOGY OF AGING - -
Caratterizzazione genetico-molecolare di un campione di soggetti affetti da disturbi dello spettro schizofrenico/bipolare provenienti da Chioggia 2008 Bertolin, Cinzia - - -
Evaluation of linkage signals in a subset of families with high recurrence of schizophrenia and bipolar disorder originating from Chioggia 2007 BERTOLIN, CINZIAVAZZA, GIOVANNIVETTORI, ANDREABOARETTO, FRANCESCARAMPINELLI, SABINAPERINI, GIULIAMOSTACCIUOLO, MARIA LUISA + - - 3rd International meeting on genetics of complex diseases and isolated populations
Genetic inheritance of schizophrenia and bipolar disorder in an italian population isolate 2006 RAMPINELLI, SABINAPERINI, GIULIAVAZZA, GIOVANNIBERTOLIN, CINZIAMOSTACCIUOLO, MARIA LUISA + - - -
Genetic inheritance of schizophrenia and bipolar disorder in an Italian population isolate 2006 RAMPINELLI, SABINAVAZZA, GIOVANNIBERTOLIN, CINZIAMOSTACCIUOLO, MARIA LUISA + AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS - -
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis 2016 BERTOLIN, CINZIASORARU', GIANNI + NATURE GENETICS - -
Genome-wide scan supports the existence of a susceptibility locus for schizophrenia and bipolar disorder on chromosome 15q26 2007 VAZZA, GIOVANNIBERTOLIN, CINZIAVETTORI, ANDREABOARETTO, FRANCESCARAMPINELLI, SABINAPERINI, GIULIAMOSTACCIUOLO, MARIA LUISA + MOLECULAR PSYCHIATRY - -
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy 2022 Bello, LucaBertolin, CinziaPegoraro, ElenaSalviati, Leonardo + NATURE COMMUNICATIONS - -
Individuation of new mutations in L1CAM gene in patients with L1 diseases. 2008 BOARETTO, FRANCESCABERTOLIN, CINZIAVAZZA, GIOVANNIVETTORI, ANDREAMOSTACCIUOLO, MARIA LUISA + - - -
Multiple acyl-COA dehydrogenase deficiency in elderly carriers 2020 Salviati L.Zordan R.Bertolin C.Rossi S. + JOURNAL OF NEUROLOGY - -
New FIG4 gene mutations causing aggressive ALS 2018 Bertolin C.Querin G.BOZZONI, VIRGINIAMartinelli I.De Bortoli M.Rampazzo A.Pegoraro E.Sorarù G. + EUROPEAN JOURNAL OF NEUROLOGY - -
No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype 2016 BERTOLIN, CINZIAQUERIN, GIORGIABELLO, LUCACAO, MICHELANGELOERMANI, MARIOPEGORARO, ELENASORARU', GIANNIPENNUTO, MARIA + EUROPEAN JOURNAL OF NEUROLOGY - -
Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients 2016 QUERIN, GIORGIABERTOLIN, CINZIAVOLPE, MARCOPEGORARO, ELENAFORESTA, CARLOSILVANO, MARIACORRADO, DOMENICOIAFRATE, MASSIMOANGELINI, LORENZOSARTORI, LEONARDOGAIANI, ALESSANDRABELLO, LUCASEMPLICINI, CLAUDIOERMANI, MARIOFERLIN, ALBERTOSORARU', GIANNIPALMIERI, ARIANNABRIANI, CHIARAPENNUTO, MARIA + JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY - -
Novel MFN2 mutations and phenotypic variability in patients with Charcot-Marie-Tooth disease type 2A. 2007 BOARETTO, FRANCESCAVAZZA, GIOVANNIVETTORI, ANDREABERTOLIN, CINZIAMOSTACCIUOLO, MARIA LUISA + - - -
Novel mutations in the L1CAM gene support the complexity of L1 syndrome 2010 BERTOLIN, CINZIABOARETTO, FRANCESCASALVIATI, LEONARDOOCCHI, GIANLUCAVAZZA, GIOVANNI + JOURNAL OF THE NEUROLOGICAL SCIENCES - -
Studio genetico pilota sulla popolazione di Chioggia: dati preliminari 2005 MOSTACCIUOLO, MARIA LUISAVETTORI, ANDREABOARETTO, FRANCESCABERTOLIN, CINZIAVAZZA, GIOVANNI + - - X Congresso Nazionale della Società Italiana di Psicopatologia