Sfoglia per AUTORE
POZZI E
Collezione AOU Città della Salute di Torino

  

Items : 18

MicroRNA dysregulation in ataxia telangiectasia. in Frontiers in immunology / Front Immunol. 2024 Aug 19;15:1444130. doi: 10.3389/fimmu.2024.1444130. eCollection 2024.
2024
ARPA Piemonte
AOU Città della Salute di Torino

Parenti G; Brusco A; Roncarati R; Ferracin M; Ferrero G; Pozzi E; Romano R; Montin D; Conti F; Bertolini P; Fabio G; Carrabba M; Baselli LA; Dellepiane RM; Badolato R; Soresina A; Damiano C; Giardino G; De Rosa A; Carissimo A; Toriello E; Tarallo A; Cirillo E; Pignata C;

Spinocerebellar ataxia 38: structure-function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot. in Human genetics / Hum Genet. 2023 Aug;142(8):1055-1076. doi: 10.1007/s00439-023-02572-y. Epub 2023 May 18.
2023
AOU Città della Salute di Torino

Borroni B; Caruso D; Tempia F; Mitro N; Rossi Sebastiano M; Pozzi E; Costanzi C; Hoxha E; Manes M; Tripathy D; Mancini C; Pavinato L; Di Campli A; Moon YA; Ortolan E; Ferrero M; Di Gregorio E; Ferrero E; Basso M; Sallese M; Brusco A;

Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study. in Neurobiology of pain (Cambridge, Mass.) / Neurobiol Pain. 2022 Apr 2;11:100089. doi: 10.1016/j.ynpai.2022.100089. eCollection 2022 Jan-Jul.
2022
AOU Città della Salute di Torino

Grassini A; Roveta F; Gallo E; Marcinnò A; Pozzi E; Giorgio E; Boschi S; Rubino E; Brusco A; Rainero I;

Corrigendum: The silent epidemic of diabetic ketoacidosis at diagnosis of type 1 diabetes in children and adolescents in italy during the covid-19 pandemic in 2020. in Frontiers in endocrinology / Front Endocrinol (Lausanne). 2022 Aug 4;13:977211. doi: 10.3389/fendo.2022.977211. eCollection 2022.
2022
AOU Città della Salute di Torino
AOU Novara

Zucchini S; Rabbone I; Moretti C; Pozzi E; Matteoli MC; Lenzi L; Iannilli A; Talarico V; Maltoni G; Musolino G; Franco F; Tornese G; Cauvin V; Guerraggio LP; Franceschi R; Trada M; De Sanctis L; Tinti D; Meloni G; Schiaffini R; Rutigliano I; Patera PI; Pampanini V; Lasagni A; Berioli MG; Iovane B; Calcaterra V; Piredda G; Cardella F; et alii...

The Silent Epidemic of Diabetic Ketoacidosis at Diagnosis of Type 1 Diabetes in Children and Adolescents in Italy During the COVID-19 Pandemic in 2020. in Frontiers in endocrinology / Front Endocrinol (Lausanne). 2022 Jun 17;13:878634. doi: 10.3389/fendo.2022.878634. eCollection 2022
2022
AOU Città della Salute di Torino
AOU Novara

Gesuita R; Rabbone I; Zucchini S; Moretti C; Pozzi E; Matteoli MC; Lenzi L; Iannilli A; Talarico V; Maltoni G; Musolino G; Franco F; Tornese G; Cauvin V; Franceschi R; Guerraggio LP; Trada M; Tinti D; De Sanctis L; Meloni G; Rutigliano I; Schiaffini R; Patera PI; Pampanini V; Lasagni A; Berioli MG; Calcaterra V; Iovane B; Cardella F; et alii...

Impact of lockdown during COVID-19 emergency on glucose metrics of children and adolescents with type 1 diabetes in Piedmont, Italy. in Acta diabetologica / Acta Diabetol. 2021 Jul;58(7):959-961. doi: 10.1007/s00592-021-01702-0. Epub 2021 Mar 15.
2021
AO Cuneo
AOU Città della Salute di Torino

Tappi E; Felici E; Pozzi E; Marchisio M; Franceschi L; Bertelli E; Nugnes M; De Donno V; Trada M; Grosso C; De Sanctis L; Savastio S; Tinti D; Rabbone I;

2021
AOU Città della Salute di Torino

Pedemonte N; Buffo A; Cortelli P; Lorenzati M; Della Sala E; Borrelli G; Morerio C; Sondo E; Ferrero M; Pozzi E; Giorgio E; Pesce E; Brusco A;

In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patients. in Scientific reports / Sci Rep. 2020 Nov 19;10(1):20182. doi: 10.1038/s41598-020-77352-z.
2020
AOU Città della Salute di Torino

Pozzi E; Giorgio E; Mancini C; Lo Buono N; Augeri S; Ferrero M; Di Gregorio E; Riberi E; Vinciguerra M; Nanetti L; Bianchi FT; Sassi MP; Costanzo V; Mariotti C; Funaro A; Cavalieri S; Brusco A;

Rates of hypogonadism forms in Klinefelter patients undergoing testicular sperm extraction: A multicenter cross-sectional study. in Andrology / Andrology. 2020 Nov;8(6):1705-1711. doi: 10.1111/andr.12843. Epub 2020 Jul 3.
2020
AOU Città della Salute di Torino

Rolle L; Colombo F; Gadda F; Timpano M; Ceruti C; Falcone M; Gentile G; Scroppo FI; Bassas-Arnau L; Sarquella-Geli J; Ruiz-Castañé E; Franceschelli A; Sibona M; Preto M; Palmisano F; Capogrosso P; Boeri L; Pozzi E; Gontero P; Montorsi F; Sánchez-Curbelo J; Montanari E; Salonia A;

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy. in European journal of neurology / Eur J Neurol. 2019 Jan;26(1):80-86. doi: 10.1111/ene.13768. Epub 2018 Sep 3.
2019
AOU Città della Salute di Torino

Silvestri G; Piacentini S; Sirchia F; Antenora A; Barghigiani M; Tessa A; Zibetti M; Mauro A; Nigro P; Riberi E; Ferrero P; Pozzi E; Di Gregorio E; Ferrero M; Cavalieri S; Prontera P; Rubino E; Bagnoli S; Pradotto L; Rubegni A; Giorgio E; Mancini C; De Michele G; Filla A; Orsi L; Santorelli FM; Brusco A; Mancini C; Giorgio E; et alii...

Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity. in Neurobiology of disease / Neurobiol Dis. 2019 Apr;124:14-28. doi: 10.1016/j.nbd.2018.10.018. Epub 2018 Oct 30.
2019
AOU Città della Salute di Torino

Battersby BJ; Gasparre G; Turco E; Altruda F; Casari G; Ferrero M; Riberi E; Pozzi E; Di Gregorio E; Giorgio E; Cavalieri S; Donetti E; Arnaboldi F; Geuna S; Ronchi G; Muratori L; Maltecca F; Nicolò V; Gondor Morosini DI; Parolisi R; Cagnoli C; Montarolo F; Richter U; Brussino A; Iommarini L; Mancini C; Hoxha E; Porcelli AM; Ferrero E; et alii...

Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis. in The Journal of molecular diagnostics : JMD / J Mol Diagn. 2018 May;20(3):289-297. doi: 10.1016/j.jmoldx.2017.12.006. Epub 2018 Feb 17.
2018
AOU Città della Salute di Torino

Cagnoli C; Brussino A; Mancini C; Ferrone M; Orsi L; Salmin P; Pappi P; Giorgio E; Pozzi E; Cavalieri S; Di Gregorio E; Ferrero M; Filla A; De Michele G; Gellera C; Mariotti C; Nethisinghe S; Giunti P; Stevanin G; Brusco A;

A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT). in Journal of neurology, neurosurgery, and psychiatry / J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):894-896. doi: 10.1136/jnnp-2016-315525. Epub 2017 May
2017
AOU Città della Salute di Torino

Brusco A; Depienne C; Ferrero M; Giordana MT; Di Gregorio E; Pozzi E; Mancini C; Cavalieri S; Eandi CM; Dino D; Lo Buono N; Benna P; Vaula G; Giorgio E;

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes. in European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society / Eur J Paediatr Neurol. 2017 May;21(3):475-484. doi: 10.1016/j.ejpn.2016.12.005. Epub 2016 Dec 19.
2017
AOU Città della Salute di Torino

Ferrero GB; Amoroso A; Borelli I; Riberi E; Ferrero M; Pozzi E; Mancini C; Cavalieri S; Di Gregorio E; Calcia A; Pizzi S; Caputo V; Ciolfi A; Bruselles A; Belligni EF; Biamino E; Giorgio E; Brussino A; Tartaglia M; Brusco A;

Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia. in Journal of neurology / J Neurol. 2016 Nov;263(11):2170-2178. doi: 10.1007/s00415-016-8244-7. Epub 2016 Aug 3.
2016
AOU Città della Salute di Torino

Costantini A; Laureti T; Pala MI; Colangeli M; Cavalieri S; Pozzi E; Brusco A; Salvarani S; Serrati C; Fancellu R;

Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia. in Neurobiology of disease / Neurobiol Dis. 2015 Sep;81:162-7. doi: 10.1016/j.nbd.2015.04.001. Epub 2015 Apr 13.
2015
AOU Città della Salute di Torino

Squadrone S; Brizio P; Mancini C; Pozzi E; Cavalieri S; Abete MC; Brusco A;

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2. in BMC medical genetics / BMC Med Genet. 2015 Mar 19;16:16. doi: 10.1186/s12881-015-0159-0.
2015
AOU Città della Salute di Torino

Mancini C; Orsi L; Guo Y; Li J; Chen Y; Wang F; Tian L; Liu X; Zhang J; Jiang H; Nmezi BS; Tatsuta T; Giorgio E; Di Gregorio E; Cavalieri S; Pozzi E; Mortara P; Caglio MM; Balducci A; Pinessi L; Langer T; Padiath QS; Hakonarson H; Zhang X; Brusco A;

Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO). in European journal of human genetics : EJHG / Eur J Hum Genet. 2013 Jul;21(7):774-8. doi: 10.1038/ejhg.2012.266. Epub 2012 Dec 5.
2013
AOU Città della Salute di Torino

Cavalieri S; Pozzi E; Gatti RA; Brusco A;