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

  

Items : 47

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease. in Alzheimer's research & therapy / Alzheimers Res Ther. 2025 Jan 14;17(1):21. doi: 10.1186/s13195-024-01661-y.
2025
AOU Città della Salute di Torino

Rubino E; Italia M; Giorgio E; Boschi S; Dimartino P; Pippucci T; Roveta F; Cambria CM; Elia G; Marcinnò A; Gallone S; Rogaeva E; Antonucci F; Brusco A; Gardoni F; Rainero I;

Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy. in Annals of neurology / Ann Neurol. 2024 Nov;96(5):855-870. doi: 10.1002/ana.27038. Epub 2024 Jul 30.
2024
AOU Città della Salute di Torino

Cortelli P; Vaula G; Delatycki MB; Pinto E Vairo F; Ratti S; Manzoli L; Ramazzotti G; Boschetti E; Koufi FD; Pippucci T; Brusco A; Lodi R; Tonon C; Henck J; Breur M; Melo US; Cani I; Basile A; Yumiceba V; Zadorozhna M; Dimartino P; Bugiani M; Spielmann M; Giorgio E;

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity. in HGG advances / HGG Adv. 2024 Jul 18;5(3):100309. doi: 10.1016/j.xhgg.2024.100309. Epub 2024 May 15.
2024
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Mussa A; Banka S; Jenkinson S; Metcalfe K; Campbell CM; Sukarova-Angelovska E; Pasini B; Petlichkovski A; McConkey H; Rooney K; Rzasa J; Dimartino P; Pippucci T; Giorgio E; Rinninella A; Pullano V; Cardaropoli S; Carestiato S; Mandrile G; Palermo F; Marinoni R; Carli D; Di Gregorio E; Ferrero E; Giovenino C; Pavinato L; Rossi Sebastiano M; Trajkova S; Kerkhof J; et alii...

The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum. in Journal of medical genetics / J Med Genet. 2023 Sep;60(9):866-873. doi: 10.1136/jmg-2022-109018. Epub 2023 Mar 28.
2023
AOU Città della Salute di Torino

D'Oria P; Spaccini L; Iascone M; Brusco A; Casalis Cavalchini GC; Giorgio E; McEntagart M; Homfray T; Jokela M; Lillback V; Di Feo MF; Savarese M; Udd B;

Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. in Nature communications / Nat Commun. 2023 Oct 9;14(1):6301. doi: 10.1038/s41467-023-42123-7.
2023
AOU Città della Salute di Torino

Melo US; Jatzlau J; Prada-Medina CA; Flex E; Hartmann S; Ali S; Schöpflin R; Bernardini L; Ciolfi A; Moeinzadeh MH; Klever MK; Altay A; Vallecillo-García P; Carpentieri G; Delledonne M; Ort MJ; Schwestka M; Ferrero GB; Tartaglia M; Brusco A; Gossen M; Strunk D; Geißler S; Mundlos S; Stricker S; Knaus P; Giorgio E; Spielmann M;

Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models. in Molecular neurobiology / Mol Neurobiol. 2023 Nov;60(11):6362-6372. doi: 10.1007/s12035-023-03461-1. Epub 2023 Jul 14.
2023
AOU Città della Salute di Torino

Ratti S; Manzoli L; Vaula G; Cortelli P; Padiath QS; Cousin M; Giorgio E; Conti L; Bugiani M; Rusciano I; Mongiorgi S; Neri I; Ramazzotti G;

Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. in Nature communications / Nat Commun. 2023 Apr 11;14(1):2034. doi: 10.1038/s41467-023-37585-8.
2023
AOU Città della Salute di Torino

Melo US; Jatzlau J; Prada-Medina CA; Flex E; Hartmann S; Ali S; Schöpflin R; Bernardini L; Ciolfi A; Moeinzadeh MH; Klever MK; Altay A; Vallecillo-García P; Carpentieri G; Delledonne M; Ort MJ; Schwestka M; Ferrero GB; Tartaglia M; Brusco A; Gossen M; Strunk D; Geißler S; Mundlos S; Stricker S; Knaus P; Giorgio E; Spielmann M;

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. in Nature genetics / Nat Genet. 2022 Sep;54(9):1320-1331. doi: 10.1038/s41588-022-01104-0. Epub 2022 Aug 18.
2022
AOU Città della Salute di Torino

Fu JM; Satterstrom FK; Peng M; Brand H; Collins RL; Dong S; Wamsley B; Klei L; Wang L; Hao SP; Stevens CR; Cusick C; Babadi M; Banks E; Collins B; Dodge S; Gabriel SB; Gauthier L; Lee SK; Liang L; Ljungdahl A; Mahjani B; Sloofman L; Smirnov AN; Barbosa M; Betancur C; Brusco A; Chung BHY; Cook EH; et alii...

A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy. in Communications biology / Commun Biol. 2022 Nov 9;5(1):1203. doi: 10.1038/s42003-022-04092-3.
2022
AOU Città della Salute di Torino

Mingardo E; Beaman G; Grote P; Nordenskjöld A; Newman W; Woolf AS; Eckstein M; Hilger AC; Dworschak GC; Rösch W; Ebert AK; Stein R; Brusco A; Di Grazia M; Tamer A; Torres FM; Hernandez JL; Erben P; Maj C; Olmos JM; Riancho JA; Valero C; Hostettler IC; Houlden H; Werring DJ; Schumacher J; Gehlen J; Giel AS; Buerfent BC; et alii...

Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy. in Annals of neurology / Ann Neurol. 2022 Nov;92(5):895-901. doi: 10.1002/ana.26477. Epub 2022 Aug 20.
2022
AOU Città della Salute di Torino

Taft RJ; Roscioli T; Lynch M; Shimizu F; Kanda T; Schimmel M; Vollert K; Willemsen MAAP; Vaula G; Smith-Hicks C; Wei S; Pippucci T; Giorgio E; Chassevent A; Bonkowsky JL; Botto LD; Andrews A; Tromp SAM; Zarekiani P; Helman G; Simons C; Bugiani M; Kuijpers TW; van der Knaap MS;

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;

Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. in Journal of medical genetics / J Med Genet. 2022 Feb;59(2):170-179. doi: 10.1136/jmedgenet-2020-107281. Epub 2020 Dec 15.
2022
AOU Città della Salute di Torino

Ferrero GB; Buxbaum JD; Dimartino P; De Rubeis S; Colson C; Ranguin K; Giuffrè M; Antona V; Radio FC; Giorgio E; Carli D; Prota V; Pippucci T; Bruselles A; Ciolfi A; Arauz-Garofalo G; Vilaseca M; Gay M; Andreoli C; Sanchiz-Calvo M; Pavinato L; Villamor-Payà M; Tartaglia M; Martinelli S; Stracker TH; Brusco A;

Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question. in Pediatric blood & cancer / Pediatr Blood Cancer. 2021 Sep;68(9):e29132. doi: 10.1002/pbc.29132. Epub 2021 May 24.
2021
AOU Città della Salute di Torino

Spadea M; Mussa A; Brusco A; Ferrero GB; Sirchia F; Giorgio E; Carli D; Perotti D; Quarello P; Ciceri S; Spreafico F; Fagioli F;

Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review. in American journal of medical genetics. Part A / Am J Med Genet A. 2021 Jun;185(6):1712-1720. doi: 10.1002/ajmg.a.62157. Epub 2021 Mar 6.
2021
ASL Città di Torino
AOU Città della Salute di Torino

Brusco A; Keller R; Buxbaum J; Ferrero GB; De Rubeis S; Tartaglia M; Petlichkovski A; Pippucci T; Dimartino P; Radio FC; Bruselles A; Giorgio E; Grosso E; Trajkova S; Pavinato L;

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;

Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5). in American journal of medical genetics. Part A / Am J Med Genet A. 2021 Feb;185(2):608-613. doi: 10.1002/ajmg.a.62001. Epub 2020 Dec 9.
2021
AOU Città della Salute di Torino

Romano C; Ferrero GB; Galesi O; Giorgio E; Magini P; Carli D; Greco D; Innella G; Brusco A; Graziano C;

Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review. in Seizure / Seizure. 2021 Feb;85:151-154. doi: 10.1016/j.seizure.2020.12.017. Epub 2020 Dec 31.
2021
AOU Città della Salute di Torino

Salpietro V; Mangano S; Brusco A; Giorgio E; Striano P; Fontana A; Antona V; Nardello R; Mangano GD;

2021
AOU Città della Salute di Torino

Mussa A; Carli D; Giorgio E; Villar AM; Cardaropoli S; Carbonara C; Campagnoli MF; Galletto P; Palumbo M; Olivieri S; Isella C; Andelfinger G; Tartaglia M; Botta G; Brusco A; Medico E; Ferrero GB;

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;

A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? in British journal of haematology / Br J Haematol. 2020 Jul;190(1):93-104. doi: 10.1111/bjh.16508. Epub 2020 Feb 21.
2020
AOU Città della Salute di Torino

Russo G; Cesaro S; Barone A; Farruggia P; Putti MC; Cantarini ME; Pierri F; Luciani M; Zecca M; Corti P; Ferrante D; Giorgio E; Brusco A; Cillario R; Carando A; Garelli E; Quarello P; Fagioli F; Dianzani I; Ramenghi U;

SLC20A1 Is Involved in Urinary Tract and Urorectal Development. in Frontiers in cell and developmental biology / Front Cell Dev Biol. 2020 Aug 7;8:567. doi: 10.3389/fcell.2020.00567. eCollection 2020.
2020
AOU Città della Salute di Torino

Grote P; Wittler L; Dakal TC; Sharma A; Keegan CE; Beckers GMA; Bökenkamp A; Van Rooij IALM; Marcelis CLM; Feitz WFJ; Di Grazia M; Giorgio E; Keene D; Cervellione RM; Läckgren G; Holmdahl G; Barker G; Anderberg M; Kluth D; Gosemann JH; Lacher M; Boemers TM; Schmiedeke E; Schäfer FM; Hirsch K; Stein R; Rösch WH; Promm M; Ebert AK; et alii...

A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants. in European journal of medical genetics / Eur J Med Genet. 2019 Nov;62(11):103578. doi: 10.1016/j.ejmg.2018.11.012. Epub 2018 Nov 13.
2019
AOU Città della Salute di Torino

Brusco A; Viora E; Giorgio E; Pasini B; Breda Klobus A; Valbonesi S; Zonta A; Botta G; Mancini C; Brussino A; Mancini C; Zonta A; Botta G; Breda Klobus A; Valbonesi S; Pasini B; Giorgio E; Viora E; Brusco A; Brussino A;

Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification. in Journal of human genetics / J Hum Genet. 2019 Nov;64(11):1083-1090. doi: 10.1038/s10038-019-0668-3. Epub 2019 Sep 9.
2019
AOU Alessandria
AOU Città della Salute di Torino

Pasini B; Grosso E; Gallone S; Marrama F; Sirchia F; Quarello P; Rubino E; Bellora S; Carando A; Garelli E; Giorgio E; Massa R; Brussino A; Brusco A;

Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation. in British journal of haematology / Br J Haematol. 2019 Jun;185(5):994-998. doi: 10.1111/bjh.15688. Epub 2018 Nov 20.
2019
AOU Città della Salute di Torino

Dianzani I; Pippucci T; Dimartino P; Carella M; Palumbo O; Crescenzio N; Di Gregorio E; Mancini C; Menegatti E; Carando A; Giorgio E; Quarello P; Garelli E; Ramenghi U; Brusco A; Garelli E; Quarello P; Giorgio E; Carando A; Menegatti E; Mancini C; Di Gregorio E; Crescenzio N; Palumbo O; Carella M; Dimartino P; Pippucci T; Dianzani I; Ramenghi U; et alii...

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations. in Human mutation / Hum Mutat. 2019 Jun;40(6):721-728. doi: 10.1002/humu.23734. Epub 2019 Mar 18.
2019
AOU Città della Salute di Torino

Carli D; Giorgio E; Pantaleoni F; Bruselles A; Barresi S; Riberi E; Licciardi F; Gazzin A; Baldassarre G; Pizzi S; Niceta M; Radio FC; Molinatto C; Montin D; Calvo PL; Ciolfi A; Fleischer N; Ferrero GB; Brusco A; Tartaglia M;

Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy. in Brain : a journal of neurology / Brain. 2019 Jul 1;142(7):1905-1920. doi: 10.1093/brain/awz139.
2019
AOU Città della Salute di Torino

Giorgio E; Lorenzati M; Rivetti di Val Cervo P; Brussino A; Cernigoj M; Della Sala E; Bartoletti Stella A; Ferrero M; Caiazzo M; Capellari S; Cortelli P; Conti L; Cattaneo E; Buffo A; Brusco 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...

A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes. in American journal of medical genetics. Part A / Am J Med Genet A. 2019 Feb;179(2):306-311. doi: 10.1002/ajmg.a.61000. Epub 2018 Dec 18.
2019
AOU Città della Salute di Torino

Brussino A; Grosso E; Sobreira NLM; Bosco M; Sirchia F; Giorgio E; Brusco A; Giorgio E; Sirchia F; Bosco M; Sobreira NLM; Grosso E; Brussino A; Brusco A;

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;

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells. in Biology of sex differences / Biol Sex Differ. 2018 Feb 20;9(1):10. doi: 10.1186/s13293-018-0169-7.
2018
AOU Città della Salute di Torino

Ho B; Greenlaw K; Al Tuwaijri A; Moussette S; Martínez F; Giorgio E; Brusco A; Ferrero GB; Linhares ND; Valadares ER; Svartman M; Kalscheuer VM; Rodríguez Criado G; Laprise C; Greenwood CMT; Naumova AK;

Messenger RNA processing is altered in autosomal dominant leukodystrophy. in Human molecular genetics / Hum Mol Genet. 2017 Oct 1;26(19):3868. doi: 10.1093/hmg/ddx225.
2017
AOU Città della Salute di Torino

Bartoletti-Stella A; Gasparini L; Giacomini C; Corrado P; Terlizzi R; Giorgio E; Magini P; Seri M; Baruzzi A; Parchi P; Brusco A; Cortelli P; Capellari S;

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;

2017
AO Cuneo
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

De Rubeis S; Pasini B; Grosso E; Buxbaum JD; Cirillo Silengo M; Provero P; De Marchi M; Restagno G; Pelle A; Giachino DF; Savin E; Gandione M; Brussino A; Ferrero M; Mancini C; Giorgio E; Cavalieri S; Talarico F; Pappi P; Zacchetti G; Zonta A; Ungari S; Sirchia F; Sorasio L; Naretto VG; Maffè A; Arduino C; Mandrile G; Keller R; et alii...

A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10. in European journal of endocrinology / Eur J Endocrinol. 2017 Nov;177(5):K21-K27. doi: 10.1530/EJE-17-0431. Epub 2017 Aug 17.
2017
AOU Città della Salute di Torino

Giorgio E; Rubino E; Bruselles A; Pizzi S; Rainero I; Duca S; Sirchia F; Pasini B; Tartaglia M; Brusco A;

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;

Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification. in Journal of the neurological sciences / J Neurol Sci. 2017 Jun 15;377:62-64. doi: 10.1016/j.jns.2017.03.053. Epub 2017 Mar 31.
2017
AOU Città della Salute di Torino

Rubino E; Giorgio E; Godani M; Grosso E; Zibetti M; Lopiano L; Ferrero P; Duca S; Moretti L; Gallone S; Rainero I; Brusco A;

A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q. in European journal of medical genetics / Eur J Med Genet. 2017 Apr;60(4):224-227. doi: 10.1016/j.ejmg.2017.01.010. Epub 2017 Jan 31.
2017
AOU Città della Salute di Torino

Restagno G; Di Gregorio E; Sirchia F; Grosso E; Pappi P; Talarico F; Savin E; Cavalieri S; Giorgio E; Mancini C; Pasini B; Mehta JS; Brusco A;

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity. in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics / Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171B(2):290-9. doi: 10.1002/ajmg.b.32406. Epub 2015
2016
AOU Città della Salute di Torino

Cirillo Silengo M; De Rubeis S; Fea AM; Talarico F; Pappi P; Cavalieri S; Giorgio E; Mancini C; Calcia A; Gandione M; Riberi E; Keller R; Belligni EF; Di Gregorio E; Biamino E; Ferrero GB; Brusco A;

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples. in American journal of medical genetics. Part A / Am J Med Genet A. 2016 Jul;170(7):1772-9. doi: 10.1002/ajmg.a.37649. Epub 2016 Apr 25.
2016
AOU Città della Salute di Torino

Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A; Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; et alii...

Messenger RNA processing is altered in autosomal dominant leukodystrophy. in Human molecular genetics / Hum Mol Genet. 2015 May 15;24(10):2746-56. doi: 10.1093/hmg/ddv034. Epub 2015 Jan 30.
2015
AOU Città della Salute di Torino

Bartoletti-Stella A; Gasparini L; Giacomini C; Corrado P; Terlizzi R; Giorgio E; Magini P; Seri M; Baruzzi A; Parchi P; Brusco A; Cortelli P; Capellari S;

Two families with novel missense mutations in COL4A1: When diagnosis can be missed. in Journal of the neurological sciences / J Neurol Sci. 2015 May 15;352(1-2):99-104. doi: 10.1016/j.jns.2015.03.042. Epub 2015 Apr 7.
2015
AOU Città della Salute di Torino

Giorgio E; Vaula G; Bosco G; Giacone S; Mancini C; Calcia A; Cavalieri S; Di Gregorio E; Rigault De Longrais R; Leombruni S; Pinessi L; Cerrato P; Brusco A; Brussino 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;

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD). in Human molecular genetics / Hum Mol Genet. 2015 Jun 1;24(11):3143-54. doi: 10.1093/hmg/ddv065. Epub 2015 Feb 20.
2015
AOU Città della Salute di Torino

Giorgio E; Robyr D; Spielmann M; Ferrero E; Di Gregorio E; Imperiale D; Vaula G; Stamoulis G; Santoni F; Atzori C; Gasparini L; Ferrera D; Canale C; Guipponi M; Pennacchio LA; Antonarakis SE; Brussino A; Brusco A;

O056. Migraine as presenting symptom of SLC20A2gene mutations. in The journal of headache and pain / J Headache Pain. 2015 Dec;16(Suppl 1):A121. doi: 10.1186/1129-2377-16-S1-A121.
2015
AOU Città della Salute di Torino

Rubino E; Giorgio E; Rainero I; Ferrero P; Gallone S; Govone F; Pinessi L; Orsi L; Duca S; Brusco A;

ELOVL5 mutations cause spinocerebellar ataxia 38. in American journal of human genetics / Am J Hum Genet. 2014 Aug 7;95(2):209-17. doi: 10.1016/j.ajhg.2014.07.001. Epub 2014 Jul 24.
2014
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Boccone L; Caruso D; Funaro A; Tempia F; Brice A; Durr A; Maillet-Vioud M; Giunti P; Padovani A; Costanzi C; Deleuze JF; Imbert J; Papotti MG; Orsi L; Duregon E; Couarch P; Vaula G; Tesson C; Moon YA; Mitro N; Hoxha E; Mura I; Coviello DA; Calcia A; Gaussen M; Mancini C; Ragusa N; Borroni B; Giorgio E; et alii...

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH. in Molecular cytogenetics / Mol Cytogenet. 2014 Nov 19;7(1):82. doi: 10.1186/s13039-014-0082-7. eCollection 2014.
2014
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Botta G; Mandrile G; Restagno G; Asnaghi V; Grosso M; Gandione M; Pappi P; Talarico F; Cavalieri S; Giorgio E; Mancini C; Calcia A; Fiocchi F; Gai G; Naretto VG; D'Alessandro G; Belligni EF; Biamino E; Savin E; Di Gregorio E; Silengo MC; Grosso E; Ferrero GB; Brusco A;