BOARETTO, FRANCESCA

BOARETTO, FRANCESCA  

Dipartimento di Biologia - DiBio  

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Risultati 1 - 20 di 28 (tempo di esecuzione: 0.019 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28. 2000 VAZZA, GIOVANNIBOARETTO, FRANCESCA + AMERICAN JOURNAL OF HUMAN GENETICS - -
A new mutation in two siblings with cystinosis presenting with Bartter syndrome. 2005 BOARETTO, FRANCESCA + PEDIATRIC NEPHROLOGY - -
A novel missense mutation in the L1CAM gene in a boy with L1 disease 2006 BOARETTO, FRANCESCAVETTORI, ANDREAMOSTACCIUOLO, MARIA LUISA + NEUROLOGICAL SCIENCES - -
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 - -
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. 2003 BOARETTO, FRANCESCA + HUMAN MOLECULAR GENETICS - -
CLINICAL AND ELECTROPHYSIOLOGICAL SPECTRUM IN A GROUP OF SPORADIC DISTAL MOTOR NEUROPATHIES 2012 BOARETTO, FRANCESCAMOSTACCIUOLO, MARIA LUISA + JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM - -
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 - -
Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families. 2008 BOARETTO, FRANCESCA + JOURNAL OF NEUROLOGY - -
Familly with two different cases of post- and pre-natal L1 syndrome; When hydrocephaly become "multidisciplinary headache" 2016 BOARETTO, FRANCESCAVAZZA, GIOVANNI + GENETIKA - -
Genetics of adrenal tumors. 2009 OPOCHER, GIUSEPPEBOARETTO, FRANCESCAMANTERO, FRANCO + MINERVA ENDOCRINOLOGICA - -
Genome scan for schizophrenia/bipolar disorder supports a susceptibility locus in 15q26 2006 VAZZA, GIOVANNIVETTORI, ANDREABOARETTO, FRANCESCAPERINI, GIULIAMOSTACCIUOLO, MARIA LUISA + AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC 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 - -
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. 2010 BOARETTO, FRANCESCAOPOCHER, GIUSEPPE + NATURE GENETICS - -
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 - -
Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation 2003 BOARETTO, FRANCESCASARTORI, ELENAMOSTACCIUOLO, MARIA LUISA + NEUROLOGY - -
Localization of a new highly repeated DNA sequence of Lemur cafta (Lemuridae, Strepsirhini). 2002 BOARETTO, FRANCESCA + GENOME - -
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 - -
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 - -
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 - -
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 - -