BERTOLIN, CINZIA

BERTOLIN, CINZIA  

Risultati 1 - 20 di 23 (tempo di esecuzione: 0.03 secondi).
Titolo Data di pubblicazione Autore(i) Rivista Serie Titolo libro
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
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 - -
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 - -
Novel MFN2 mutations and phenotypic variability in patients with Charcot-Marie-Tooth disease type 2A. 2007 BOARETTO, FRANCESCAVAZZA, GIOVANNIVETTORI, ANDREABERTOLIN, CINZIAMOSTACCIUOLO, MARIA LUISA + - - -
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
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 - -
Individuation of new mutations in L1CAM gene in patients with L1 diseases. 2008 BOARETTO, FRANCESCABERTOLIN, CINZIAVAZZA, GIOVANNIVETTORI, ANDREAMOSTACCIUOLO, MARIA LUISA + - - -
Caratterizzazione genetico-molecolare di un campione di soggetti affetti da disturbi dello spettro schizofrenico/bipolare provenienti da Chioggia 2008 Bertolin, Cinzia - - -
Novel mutations in the L1CAM gene support the complexity of L1 syndrome 2010 BERTOLIN, CINZIABOARETTO, FRANCESCASALVIATI, LEONARDOOCCHI, GIANLUCAVAZZA, GIOVANNI + JOURNAL OF THE NEUROLOGICAL SCIENCES - -
Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder. 2011 BERTOLIN, CINZIAVETTORI, ANDREAPERINI, GIULIAMOSTACCIUOLO, MARIA LUISAVAZZA, GIOVANNI + JOURNAL OF HUMAN GENETICS - -
TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations 2015 BERTOLIN, CINZIAQUERIN, GIORGIASORARU', GIANNI + 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 - -
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 - -
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis 2016 BERTOLIN, CINZIASORARU', GIANNI + NATURE GENETICS - -
The clinical spectrum of CASQ1-related myopathy 2018 Semplicini CBertolin CBello LPantic BVianello SCATAPANO, FRANCESCOGavassini BFPREVITERO, MARCOCalore CSorarù GMinervini GTosatto SCEStramare RPegoraro E. + NEUROLOGY - -
Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study. 2018 Marcato S.Kleinbub J. R.Querin G.Pick E.Martinelli I.Bertolin C.Cipolletta S.Pegoraro ESorarù G.& Palmieri + SCIENTIFIC REPORTS - -
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 - -
Multiple acyl-COA dehydrogenase deficiency in elderly carriers 2020 Salviati L.Zordan R.Bertolin C.Rossi S. + JOURNAL OF NEUROLOGY - -
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 - -