BOARETTO, FRANCESCA

BOARETTO, FRANCESCA  

Dipartimento di Biologia - DiBio  

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Risultati 1 - 20 di 34 (tempo di esecuzione: 0.057 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients 2016 BOARETTO, FRANCESCASNIJDERS, DEBORAHSALVORO, CECILIAMOSTACCIUOLO, MARIA LUISABARBATO, ANGELOVAZZA, GIOVANNI + THE JOURNAL OF MOLECULAR DIAGNOSTICS - -
Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" 2016 BOARETTO, FRANCESCAVAZZA, GIOVANNI + GENETIKA - -
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signaling 2016 PALLAFACCHINA, GIORGIAZANIN, SOFIABOARETTO, FRANCESCAVETTORI, ANDREARIZZUTO, ROSARIOVAZZA, GIOVANNI + HUMAN MOLECULAR GENETICS - -
Von Hippel-Lindau disease: an evaluation of natural history and functional disability 2016 SCARPA, BRUNOSCHIAVI, FRANCESCABOARETTO, FRANCESCAZanoletti, ElisabettaPIERMAROCCHI, STEFANOMURGIA, ALESSANDRAOPOCHER, GIUSEPPE + NEURO-ONCOLOGY - -
Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia. 2015 BOARETTO, FRANCESCAVAZZA, GIOVANNIBRIANI, CHIARA + MUSCLE & NERVE - -
High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites 2014 MANNO, NICOLABOARETTO, FRANCESCABATTISTI, ANDREAVAZZA, GIOVANNIMOSTACCIUOLO, MARIA LUISAPAOLETTI, MAURIZIO + CARBOHYDRATE POLYMERS - -
Novel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2 (CMT2A). 2014 LUCCHETTA, MARTABOARETTO, FRANCESCACampagnolo MBRIANI, CHIARA + MUSCLE & NERVE - -
A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype 2013 OCCHI, GIANLUCAREGAZZO, DANIELABOARETTO, FRANCESCACIATO, DENISFERASIN, SERGIOOPOCHER, GIUSEPPEMANTERO, FRANCOSCARONI, CARLA + PLOS GENETICS - -
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy. 2013 GREGIANIN, ELISAVAZZA, GIOVANNIBOARETTO, FRANCESCAVETTORI, ANDREALEONARDI, EMANUELATOSATTO, SILVIOManara RPEGORARO, ELENAMOSTACCIUOLO, MARIA LUISA + EUROPEAN JOURNAL OF NEUROLOGY - -
CLINICAL AND ELECTROPHYSIOLOGICAL SPECTRUM IN A GROUP OF SPORADIC DISTAL MOTOR NEUROPATHIES 2012 BOARETTO, FRANCESCAMOSTACCIUOLO, MARIA LUISA + JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM - -
NOVEL MUTATION OF THE MITOFUSIN 2 GENE IN A FAMILY WITH CHARCOT-MARIE-TOOTH DISEASE TYPE 2A 2012 BERGAMIN, GIORGIAM. CampagnoloCACCIAVILLANI, MARIOBOARETTO, FRANCESCAMOSTACCIUOLO, MARIA LUISABRIANI, CHIARA + JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM - -
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. 2010 BOARETTO, FRANCESCAOPOCHER, GIUSEPPE + NATURE GENETICS - -
Novel mutations in the L1CAM gene support the complexity of L1 syndrome 2010 BERTOLIN, CINZIABOARETTO, FRANCESCASALVIATI, LEONARDOOCCHI, GIANLUCAVAZZA, GIOVANNI + JOURNAL OF THE NEUROLOGICAL SCIENCES - -
Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation. 2010 BOARETTO, FRANCESCAVETTORI, ANDREAVAZZA, GIOVANNISALVIATI, LEONARDOMOSTACCIUOLO, MARIA LUISA + NEUROLOGY - -
Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas 2010 BOARETTO, FRANCESCAIACOBONE, MAURIZIOGiuseppe Opocher + JAMA - -
Genetics of adrenal tumors. 2009 OPOCHER, GIUSEPPEBOARETTO, FRANCESCAMANTERO, FRANCO + MINERVA ENDOCRINOLOGICA - -
Individuazione e caratterizzazione di geni implicati nelle paraparesi spastiche ereditarie 2009 Boaretto, Francesca - - -
Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum 2009 MOSTACCIUOLO, MARIA LUISABOARETTO, FRANCESCA + JOURNAL OF MEDICAL GENETICS - -
The pheochromocytoma and paraganglioma syndrome: founder effects and the PGL 1 syndrome. 2009 Opocher GBOARETTO, FRANCESCA + ANNALES D'ENDOCRINOLOGIE - -
c.1392+2T>C mutation in MFN2 gene affects splicing in Charcot-Marie-Tooth (CMT) 2A family. 2008 VETTORI, ANDREABOARETTO, FRANCESCAVAZZA, GIOVANNIBERGAMIN, GIORGIAMOSTACCIUOLO, MARIA LUISA + - - -