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BRUSCO A
Collezione AOU Città della Salute di Torino

  

Items : 109

2025
AOU Città della Salute di Torino

Barzasi M; Spinola A; Costa A; Pavinato L; Brusco A; Marcello E; DiLuca M; Gardoni F;

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations. in Clinical genetics / Clin Genet. 2025 Mar;107(3):354-358. doi: 10.1111/cge.14654. Epub 2024 Nov 27.
2025
AO Cuneo
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Ferrero GB; Brusco A; Buxbaum JD; Tartaglia M; Sadikovic B; De Rubeis S; Cardaropoli S; Bruselles A; Balzo M; Todd E; Rzasa J; McConkey H; Kerkhof J; De Sanctis L; Mantovani G; Sorasio L; Carestiato S; Trajkova S; Pavinato L;

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2025 Mar;27(3):101348. doi: 10.1016/j.gim.2024.101348. Epub 2024 Dec 27.
2025
AOU Città della Salute di Torino

Pang L; Bell L; Uhlman J; Narumanch T; Peron K; Matthews N; Morrison JL; Wheeler PG; Levy RJ; Kortüm F; Low K; Herget T; Lynch SA; Quin S; Cogné B; Kenny J; Isidor B; Green A; Mullegama SV; Bird LM; Bijlsma EK; Andersen CB; Andersen UA; Fagerberg C; Morgan AT; Amor DJ; Atallah I; Campos-Xavier B; Serrano Russi AH; et alii...

The ELOVL proteins: Very and ultra long-chain fatty acids at the crossroads between metabolic and neurodegenerative disorders. in Molecular genetics and metabolism / Mol Genet Metab. 2025 Mar;144(3):109050. doi: 10.1016/j.ymgme.2025.109050. Epub 2025 Feb 4.
2025
AOU Città della Salute di Torino

Ferrero E; Vaz FM; Cheillan D; Brusco A; Marelli C;

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature. in HGG advances / HGG Adv. 2025 Jan 9;6(1):100380. doi: 10.1016/j.xhgg.2024.100380. Epub 2024 Nov 4.
2025
AOU Città della Salute di Torino

Barakat TS; Alders M; van der Smagt JJ; José van den Boogaard M; Trajkova S; van Bever Y; Polstra AM; Pfundt R; Nordgren A; Närhi A; Mignot C; Mussa A; Mizuguchi T; Matsumoto N; Marcelis C; Mancini GMS; Maas SM; Lock-Hock N; Levy MA; Kroes HY; Keren B; Kato M; Kira R; Kant SG; Hopman S; Hochstenbach R; Herkert JC; Engelen M; Vega AD; et alii...

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus. in American journal of human genetics / Am J Hum Genet. 2025 Jan 2;112(1):154-167. doi: 10.1016/j.ajhg.2024.11.003. Epub 2024 Dec 19.
2025
ASL Città di Torino
AOU Città della Salute di Torino

Scherer SW; Simone L; Zara F; Russell BE; Nelson SF; Graziano C; Schwab M; Corona RI; Mullegama SV; Douine ED; Helbig I; McDonnell PP; Lusk L; Pedro HF; Parisotto S; Keller R; Pullano V; Brusco A; Granger L; Anadiotis G; Charlebois J; Elsabbagh M; MacDonald JR; Ko SY; Frankland PW; Anagnostou E; Reuter MS; Mendes M; Trost B; et alii...

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;

Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia. in Journal of clinical immunology / J Clin Immunol. 2024 Sep 23;45(1):15. doi: 10.1007/s10875-024-01793-8.
2024
AOU Città della Salute di Torino

Saettini F; Guerra F; Mauri M; Salter CG; Adam MP; Adams D; Baple EL; Barredo E; Bhatia S; Borkhardt A; Brusco A; Bugarin C; Chinello C; Crosby AH; D'Souza P; Denti V; Fazio G; Giuliani S; Kuehn HS; Amel H; Elmi A; Lo B; Malighetti F; Mandrile G; Martín-Nalda A; Mefford HC; Moratto D; Emam Mousavi F; Nelson Z; et alii...

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;

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. in Genome medicine / Genome Med. 2024 May 30;16(1):72. doi: 10.1186/s13073-024-01339-y.
2024
AOU Città della Salute di Torino

Bassani S; Chrast J; Ambrosini G; Voisin N; Schütz F; Brusco A; Sirchia F; Turban L; Schubert S; Abou Jamra R; Schlump JU; DeMille D; Bayrak-Toydemir P; Nelson GR; Wong KN; Duncan L; Mosera M; Gilissen C; Vissers LELM; Pfundt R; Kersseboom R; Yttervik H; Hansen GÅM; Smeland MF; Butler KM; Lyons MJ; Carvalho CMB; Zhang C; Lupski JR; et alii...

Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2024 Mar;26(3):101041. doi: 10.1016/j.gim.2023.101041. Epub 2023 Dec 3.
2024
AOU Città della Salute di Torino

Alders MM; Merla G; Brusco A; Trajkova S; Mussa A; Shukarova-Angelovska E; Carli D; Asaftei SD; Piccione M; Vissers L; Salzano E; Tedder ML; Gerkes EH; Zonneveld-Huijssoon E; Brooks A; Kerkhof J; McConkey H; Levy MA; Haghshenas S; Relator R; Karimi K; Mol MO; Bouman A; Sadikovic B;

Identification of the DNA methylation signature of Mowat-Wilson syndrome. in European journal of human genetics : EJHG / Eur J Hum Genet. 2024 Jun;32(6):619-629. doi: 10.1038/s41431-024-01548-4. Epub 2024 Feb 13.
2024
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Trajkova S; Zuntini R; Relator R; Haghshenas S; Levy MA; Garavelli L; Sadikovic B; Ferrero GB; Tartaglia M; McConkey H; Zollino M; Pullano V; Brusco A; Pavinato L; Ivanovski I; Fetta A; Sukarova E; Lauzon C; Cordelli DM; Mandrile G; Baldo C; Rooney K; Caraffi SG; van der Laan L;

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes. in Human genetics / Hum Genet. 2024 Jun;143(6):761-773. doi: 10.1007/s00439-024-02679-w. Epub 2024 May 24.
2024
AOU Città della Salute di Torino

Vos N; Haghshenas S; van der Laan L; Russel PKM; Rooney K; Levy MA; Relator R; Kerkhof J; McConkey H; Maas SM; Vissers LELM; de Vries BBA; Pfundt R; Elting MW; van Hagen JM; Verbeek NE; Jongmans MCJ; Lakeman P; Rumping L; Bosch DGM; Vitobello A; Thauvin-Robinet C; Faivre L; Nambot S; Garde A; Willems M; Genevieve D; Nicolas G; Busa T; et alii...

Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report. in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology / Neurol Sci. 2024 Jun;45(6):2877-2880. doi: 10.1007/s10072-024-07453-4. Epub 2024 Mar 18.
2024
AOU Città della Salute di Torino

Rubino E; Gallone S; Brusco A; Lombardo C; Boschi S; Piella E; Ferrandes F; Marcinnò A; Lesca A; Zotta M; Roveta F; Cermelli A; Grassini A; Bruni A; Rainero I;

Correction to: Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG?PET presentation in spinocerebellar ataxia 17: a case report. in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology / Neurol Sci. 2024 Jun;45(6):2949. doi: 10.1007/s10072-024-07498-5.
2024
AOU Città della Salute di Torino

Grassini A; Cermelli A; Roveta F; Zotta M; Lesca A; Marcinnò A; Ferrandes F; Piella E; Boschi S; Lombardo C; Brusco A; Gallone S; Rubino E; Bruni A; Rainero I;

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...

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. in medRxiv : the preprint server for health sciences / medRxiv [Preprint]. 2024 Jan 17:2024.01.14.24301100. doi: 10.1101/2024.01.14.24301100.
2024
AOU Città della Salute di Torino

Bassani S; Chrast J; Ambrosini G; Voisin N; Schütz F; Brusco A; Sirchia F; Turban L; Schubert S; Jamra RA; Schlump JU; DeMille D; Bayrak-Toydemir P; Nelson GR; Wong KN; Duncan L; Mosera M; Gilissen C; Vissers LELM; Pfundt R; Kersseboom R; Yttervik H; Hansen GÅM; Falkenberg Smeland M; Butler KM; Lyons MJ; Carvalho CMB; Zhang C; Lupski JR; et alii...

RICTOR variants are associated with neurodevelopmental disorders. in European journal of human genetics : EJHG / Eur J Hum Genet. 2024 Dec 30. doi: 10.1038/s41431-024-01774-w.
2024
AOU Città della Salute di Torino

Carapito R; Molitor A; Pavinato L; Skeyni A; Lambert M; Pichot A; Jiang J; Spinnhirny P; Zimmermann L; Boucher P; Chung CWT; Elserafy N; Blair EM; Li D; Elisabeth B; Kotzaeridou U; Karch S; Wagner M; Lunsing RJ; Pfundt R; Boycott KM; Bruel AL; Mau-Them FT; Moutton S; Conti V; Mei D; Cetica V; Guerrini R; Brunet T; et alii...

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype. in American journal of medical genetics. Part C, Seminars in medical genetics / Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32089. doi: 10.1002/ajmg.c.32089. Epub 2024 Jun 1
2024
AOU Città della Salute di Torino

Sousa SB; Kini U; Oliveira D; Zollino M; Metcalfe K; Yamamoto T; Bourgois A; Perrin L; Vincent-Devulder A; Weber S; Faivre L; Vitobello A; Ciaccio C; D'Arrigo S; Hennekam RCM; Henneman P; Alders M; Skinner C; Tedder ML; McConkey H; Kerkhof J; Relator R; Levy MA; Brusco A; Carli D; Reilly J; Trajkova S; Sarli C; van der Laan L; et alii...

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;

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;

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes. in European journal of human genetics : EJHG / Eur J Hum Genet. 2023 Nov;31(11):1228-1236. doi: 10.1038/s41431-023-01324-w. Epub 2023 Mar 6.
2023
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Ferrero GB; Delledonne M; Rossato M; Tartaglia M; Pippucci T; De Rubeis S; Buxbaum JD; Pasini B; Mandrile G; Bruselles A; Froukh T; Dimartino P; Mussa A; Palermo F; Carli D; Battaglia A; Bertoli L; Fadda A; Rinninella A; Salmin P; Carestiato S; Sukarova-Angelovska E; Ferrero E; Brusco A; Pullano V; Cardaropoli S; Pavinato L; Trajkova S; Giovenino C; et alii...

Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2023 Nov;25(11):100922. doi: 10.1016/j.gim.2023.100922. Epub 2023 Jul 1.
2023
AOU Città della Salute di Torino

Smedley D; Buxbaum JD; De Rubeis S; Tartaglia M; Cardaropoli S; Bruselles A; Kaiyrzhanov R; Chand P; Efthymiou S; Sisodiya SM; Vestito L; Kelley WV; Hiatt SM; Spada M; Biamino E; Marcantoni A; Di Luca M; Costa A; Cipriani V; Eberini I; Palazzolo L; Chiantia G; Gurgone A; Barzasi M; Stanic J; Pavinato L; Ferrero GB; Giustetto M; Gardoni F; et alii...

CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD. in Brain : a journal of neurology / Brain. 2023 Feb 13;146(2):534-548. doi: 10.1093/brain/awac278.
2023
AOU Città della Salute di Torino

Pavinato L; Delle Vedove A; Carli D; Ferrero M; Carestiato S; Howe JL; Agolini E; Coviello DA; van de Laar I; Au PYB; Di Gregorio E; Fabbiani A; Croci S; Mencarelli MA; Bruno LP; Renieri A; Veltra D; Sofocleous C; Faivre L; Mazel B; Safraou H; Denommé-Pichon AS; van Slegtenhorst MA; Giesbertz N; van Jaarsveld RH; Childers A; Rogers RC; Novelli A; De Rubeis S; et alii...

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus. in medRxiv : the preprint server for health sciences / medRxiv [Preprint]. 2023 Dec 27:2023.12.21.23300383. doi: 10.1101/2023.12.21.23300383.
2023
ASL Città di Torino
AOU Città della Salute di Torino

Mullegama SV; Helbig I; McDonnell PP; Lusk L; Pedro HF; Parisotto S; Keller R; Brusco A; Pullano V; Anadiotis G; Granger L; Frankland PW; MacDonald JR; Ko SY; Reuter MS; Shum C; Salazar NB; Trost B; Howe JL; Bradley CA; Scala M; Douine ED; Russell BE; Nelson SF; Zara F; Scherer SW;

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return. in European journal of human genetics : EJHG / Eur J Hum Genet. 2023 Dec;31(12):1430-1439. doi: 10.1038/s41431-023-01451-4. Epub 2023 Sep 7.
2023
AOU Città della Salute di Torino

Geddes GC; Landis BJ; Helvaty LR; Rankin J; Kerstjens-Frederikse WS; Brusco A; Ferrero GB; Neas K; Armstrong R; Tan TY; Burgess T; Kini U; Sasaki E; Kraus A; Breckpot J; Gewillig M; Louw JJ; Parker MJ; Clayton-Smith J; Joss S; Dorf ILH; Vogel I; Luna PN; Owen N; Zhao X; Huth EA; McBride KL; Ware SM; Shaw CA; et alii...

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2023 Aug;25(8):100871. doi: 10.1016/j.gim.2023.100871. Epub 2023 Apr 28.
2023
AOU Città della Salute di Torino

Sadikovic B; Mannens MMAM; Alders M; Hochstenbach R; Misra-Isrie M; Ferrero GB; Brusco A; Oegema R; Verbeek N; van der Smagt JJ; Volker-Touw CML; de Villemeur TB; Keren B; Terrone G; Mignot C; Brunetti-Pierri N; Levy MA; Vos N; Relator R; Lauffer P; Trajkova S; Haghshenas S; Rooney K; van der Laan L; van Haelst MM; Henneman P;

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;

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;

A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy: A Case Report. in Journal of Alzheimer's disease reports / J Alzheimers Dis Rep. 2023 May 31;7(1):469-473. doi: 10.3233/ADR230023. eCollection 2023.
2023
ASL Città di Torino
AOU Città della Salute di Torino

Rainero I; Rubino E; Brusco A; Pasini B; Dentelli P; Imperiale D; Gallone S; Atzori C; Boschi S; Cermelli A; Ferrandes F; Grassini A; Marcinnò A; Roveta F;

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes. in Human mutation / Hum Mutat. 2022 Sep;43(9):1299-1313. doi: 10.1002/humu.24414. Epub 2022 Jun 8.
2022
ASL Città di Torino
AOU Città della Salute di Torino

Striano P; Piton A; Zara F; Charlet-Berguerand N; Saris JJ; Lipska-Zi?tkiewicz BS; Brusco A; Langer T; Schmidts M; Liebelt J; Khan A; Verrotti A; Umair M; Galloni GB; Balagura G; Nobile G; Mancardi MM; Giacomini T; Scudieri P; Uva P; van Slegtenhorst M; Iacomino M; Madia F; de Man SA; Telegrafi A; Pavinato L; Wessels MW; Krygier M; MacLennan SC; et alii...

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...

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. in American journal of medical genetics. Part A / Am J Med Genet A. 2022 Oct;188(10):2958-2968. doi: 10.1002/ajmg.a.62919. Epub 2022 Jul 29.
2022
AOU Città della Salute di Torino

Cole T; Morton J; Turnpenny PD; McKee S; Lam WWK; Harrison RE; Shannon NL; Varghese V; Bernardini L; Giuffrida MG; Dean J; McMullan DJ; Boogaerts A; Van Den Bogaert K; Joubert M; Beneteau C; Wellesley D; Di Gregorio E; Brusco A; Ferrero GB; Neas K; Rustad CF; Graziani L; Digilio MC; Capolino R; Dentici ML; Novelli A; Di Tommaso S; Hernandez-Garcia A; 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...

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. in Brain : a journal of neurology / Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299.
2022
AOU Città della Salute di Torino

Galosi S; Edani BH; Martinelli S; Hansikova H; Eklund EA; Caputi C; Masuelli L; Corsten-Janssen N; Srour M; Oegema R; Bosch DGM; Ellis CA; Amlie-Wolf L; Accogli A; Atallah I; Averdunk L; Barañano KW; Bei R; Bagnasco I; Brusco A; Demarest S; Alaix AS; Di Bonaventura C; Distelmaier F; Elmslie F; Gan-Or Z; Good JM; Gripp K; Kamsteeg EJ; et alii...

2022
ASL Città di Torino
AOU Città della Salute di Torino

Pavinato L; Platzer K; Keller R; Rosenhahn E; Strehlow V; Trajkova S; Delanne J; Sukarova-Angelovska E; Leiz S; Mau-Them FT; Brugger M; Roser T; Courtin T; Perrin L; Keren B; Agrawal PB; Madden JA; Brownstein CA; Chatron N; Sabatier I; Lesca G; Barakat TS; van Dooren MF; Wilke M; van Slegtenhorst M; Vetro A; England E; Murali CN; Fehr S; et alii...

Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM). in Antioxidants (Basel, Switzerland) / Antioxidants (Basel). 2022 Jun 29;11(7):1294. doi: 10.3390/antiox11071294.
2022
AOU Città della Salute di Torino

Benedetti V; Canzoneri R; Perrelli A; Arduino C; Zonta A; Brusco A; Retta SF;

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;

Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2022 Jan;24(1):29-40. doi: 10.1016/j.gim.2021.08.003. Epub 2021 Nov 30.
2022
AOU Città della Salute di Torino

Mariotti C; Bruzzone MG; Brusco A; Cortelli P; Sambati L; Fancellu R; Ricci B; Mongelli A; Rizzo E; Sarto E; Gellera C; Magri S; Nanetti L; Di Bella D; Taroni F;

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;

Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome. in Genes, chromosomes & cancer / Genes Chromosomes Cancer. 2022 Dec;61(12):740-746. doi: 10.1002/gcc.23092. Epub 2022 Sep 19.
2022
AOU Città della Salute di Torino

Medico E; Brusco A; Ramenghi U; Palumbo M; Pullano V; Lepri FR; Cesario C; La Selva R; Coppo P; Tessaris D; Cardaropoli S; Carli D; De Sanctis L; Ferrero GB; Mussa A;

Editorial: Improving medical diagnosis in rare diseases. in Frontiers in genetics / Front Genet. 2022 Sep 6;13:974129. doi: 10.3389/fgene.2022.974129. eCollection 2022.
2022
AOU Città della Salute di Torino

Brusco A; Linhares ND; Gorman KM;

Motor and cognitive outcomes of cerebello-spinal stimulation in neurodegenerative ataxia. in Brain : a journal of neurology / Brain. 2021 Sep 4;144(8):2310-2321. doi: 10.1093/brain/awab157.
2021
AOU Città della Salute di Torino

Benussi A; Cantoni V; Manes M; Libri I; Dell'Era V; Datta A; Thomas C; Ferrari C; Di Fonzo A; Fancellu R; Grassi M; Brusco A; Alberici A; Borroni B;

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;

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. in Brain : a journal of neurology / Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124.
2021
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Rehm HL; Casasnovas C; Adams DR; de Souza P; Marcé-Grau A; Canonico F; Iascone M; Fossati C; Sala-Coromina J; Rouvet I; Schlüter A; Goizet C; Ruiz M; Michaud V; Chacón A; Barredo E; O'Heir E; O'Leary M; Mandrile G; Pavinato L; Saettini F; Benkirane M; Roubertie A; Raspall-Chaure M; de la Calle I; Planas-Serra L; Vélez-Santamaria V; Rodríguez-Palmero A; Verdura E; et alii...

Elovl5 is required for proper action potential conduction along peripheral myelinated fibers. in Glia / Glia. 2021 Oct;69(10):2419-2428. doi: 10.1002/glia.24048. Epub 2021 Jun 17.
2021
AOU Città della Salute di Torino

Mitro N; Borroni B; Brusco A; Buffo A; DiGregorio E; Raimondo S; Muratori L; Guglielmotto M; Ravera F; Montarolo F; Audano M; Balbo I; Parolisi R; Hoxha E; Caruso D; Tempia F;

CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity. in EMBO molecular medicine / EMBO Mol Med. 2021 Nov 8;13(11):e14095. doi: 10.15252/emmm.202114095. Epub 2021 Oct 11.
2021
AOU Città della Salute di Torino

Perez BA; Shorrock HK; Banez-Coronel M; Zu T; Romano LE; Laboissonniere LA; Reid T; Ikeda Y; Reddy K; Gomez CM; Bird T; Ashizawa T; Schut LJ; Brusco A; Berglund JA; Hasholt LF; Nielsen JE; Subramony SH; Ranum LP;

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. in American journal of human genetics / Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001.
2021
AOU Città della Salute di Torino

Voisin N; Schnur RE; Douzgou S; Hiatt SM; Rustad CF; Brown NJ; Earl DL; Keren B; Levchenko O; Geuer S; Verheyen S; Johnson D; Zarate YA; Han?árová M; Amor DJ; Bebin EM; Blatterer J; Brusco A; Cappuccio G; Charrow J; Chatron N; Cooper GM; Courtin T; Dadali E; Delafontaine J; Del Giudice E; Doco M; Douglas G; Eisenkölbl A; et alii...

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans. in American journal of medical genetics. Part A / Am J Med Genet A. 2021 Mar;185(3):836-840. doi: 10.1002/ajmg.a.62066. Epub 2021 Jan 14.
2021
AOU Città della Salute di Torino

Brusco A; Naretto VG; Di Gregorio E; Potocki L; Keswani S; Machol K; Mackay LP; Gofin Y; Hernandez-Garcia A; Scott DA;

KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity. in International journal of molecular sciences / Int J Mol Sci. 2021 Jun 4;22(11):6064. doi: 10.3390/ijms22116064.
2021
AOU Città della Salute di Torino

Pavinato L; Nematian-Ardestani E; Zonta A; De Rubeis S; Buxbaum J; Mancini C; Bruselles A; Tartaglia M; Pessia M; Tucker SJ; D'Adamo MC; Brusco A;

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;

New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review. in Brain sciences / Brain Sci. 2020 Oct 28;10(11):788. doi: 10.3390/brainsci10110788.
2020
AOU Città della Salute di Torino

Trajkova S; Di Gregorio E; Ferrero GB; Carli D; Pavinato L; Delplancq G; Kuentz P; 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;

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population. in European journal of human genetics : EJHG / Eur J Hum Genet. 2020 Nov;28(11):1602-1614. doi: 10.1038/s41431-020-0691-z. Epub 2020 Jul 17.
2020
AOU Città della Salute di Torino

Seri M; Furini S; Bruttini M; Asselta R; Brusco A; Baldassarri M; Valentino F; Trezza A; Torella A; Pippucci T; Musacchia F; Marconi C; Giliberti A; Doddato G; Bruselles A; Birolo G; Ciolfi A; Spiga O; Tita R; Benetti E; Nigro V; Matullo G; Tartaglia M; Mari F; Renieri A; Pinto AM;

Challenging arterial calcification disease associated with rare NT5E gene mutation. in BMJ case reports / BMJ Case Rep. 2020 Jun 11;13(6):e235365. doi: 10.1136/bcr-2020-235365.
2020
AOU Città della Salute di Torino

Avruscio G; Massussi M; Adamo A; 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;

Trace elements profile in the blood of Huntington' disease patients. in Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) / J Trace Elem Med Biol. 2020 Jan;57:18-20. doi: 10.1016/j.jtemb.2019.09.006. Epub 2019 Sep 16.
2020
AOU Città della Salute di Torino

Brusco A; Abete MC; Brizio P; Squadrone S;

Missense variant contribution to USP9X-female syndrome. in NPJ genomic medicine / NPJ Genom Med. 2020 Dec 9;5(1):53. doi: 10.1038/s41525-020-00162-9.
2020
AOU Città della Salute di Torino

Jolly LA; Parnell E; Gardner AE; Corbett MA; Pérez-Jurado LA; Shaw M; Lesca G; Keegan C; Schneider MC; Griffin E; Maier F; Kiss C; Guerin A; Crosby K; Rosenbaum K; Tanpaiboon P; Whalen S; Keren B; McCarrier J; Basel D; Sadedin S; White SM; Delatycki MB; Kleefstra T; Küry S; Brusco A; Sukarova-Angelovska E; Trajkova S; Yoon S; et alii...

2020
AOU Città della Salute di Torino

Zonta A; Brussino A; Dentelli P; Brusco A;

Next Generation Sequencing (NGS) Strategies for Genetic Testing of Cerebral Cavernous Malformation (CCM) Disease. in Methods in molecular biology (Clifton, N.J.) / Methods Mol Biol. 2020;2152:59-75. doi: 10.1007/978-1-0716-0640-7_5.
2020
AOU Città della Salute di Torino

Benedetti V; Pellegrino E; Brusco A; Piva R; Retta SF;

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...

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;

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;

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;

Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study. in Parkinsonism & related disorders / Parkinsonism Relat Disord. 2019 Jun;63:191-194. doi: 10.1016/j.parkreldis.2019.02.040. Epub 2019 Mar
2019
AOU Città della Salute di Torino

Manes M; Alberici A; Di Gregorio E; Boccone L; Premi E; Mitro N; Pasolini MP; Pani C; Paghera B; Orsi L; Costanzi C; Ferrero M; Tempia F; Caruso D; Padovani A; Brusco A; Borroni B;

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...

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism. in Medicina (Kaunas, Lithuania) / Medicina (Kaunas). 2019 Jul 7;55(7):345. doi: 10.3390/medicina55070345.
2019
AOU Città della Salute di Torino

Gironi LC; Colombo E; Brusco A; Grosso E; Naretto VG; Guala A; Di Gregorio E; Zonta A; Zottarelli F; Pasini B; Savoia P;

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;

ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia. in Neurobiology of aging / Neurobiol Aging. 2019 Jan;73:231.e7-231.e9. doi: 10.1016/j.neurobiolaging.2018.09.009. Epub 2018 Sep
2019
AOU Città della Salute di Torino

Brusco A; Giordana MT; Gai A; Vacca A; Govone F; Pinessi L; Orsi L; Zucca M; Bianca S; Ferrone M; Ferrero P; Mancini C; Boschi S; Rubino E; Rainero I; Rubino E; Mancini C; Boschi S; Ferrero P; Ferrone M; Bianca S; Zucca M; Orsi L; Pinessi L; Govone F; Vacca A; Gai A; Giordana MT; Brusco A; et alii...

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...

Altered homeostasis of trace elements in the blood of SCA2 patients. in Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) / J Trace Elem Med Biol. 2018 May;47:111-114. doi: 10.1016/j.jtemb.2018.02.011. Epub 2018 Feb 13.
2018
AOU Città della Salute di Torino

Squadrone S; Brizio P; Mancini C; Abete MC; Brusco A;

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;

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17. in Frontiers in cellular neuroscience / Front Cell Neurosci. 2018 Nov 23;12:429. doi: 10.3389/fncel.2018.00429. eCollection 2018.
2018
AOU Città della Salute di Torino

Polke JM; Hardy J; Wood NW; Bhatia KP; Lunn MP; Kennedy A; Limousin P; Rosser E; Houlden H; Cervera C; Labrum R; Sweeney MG; Pemble S; Abeti R; Zeitlberger A; Ging H; Lim WN; Nethisinghe S; Veneziano L; Brusco A; Davis MB; Giunti P; Nethisinghe S; Lim WN; Ging H; Zeitlberger A; Abeti R; Pemble S; Sweeney MG; et alii...

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;

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 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;

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;

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development. in Scientific reports / Sci Rep. 2017 Feb 8;7:42170. doi: 10.1038/srep42170.
2017
AOU Città della Salute di Torino

Zhang R; Knapp M; Suzuki K; Kajioka D; Schmidt JM; Winkler J; Yilmaz Ö; Pleschka M; Cao J; Kockum CC; Barker G; Holmdahl G; Beaman G; Keene D; Woolf AS; Cervellione RM; Cheng W; Wilkins S; Gearhart JP; Sirchia F; Di Grazia M; Ebert AK; Rösch W; Ellinger J; Jenetzky E; Zwink N; Feitz WF; Marcelis C; Schumacher J; et alii...

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;

Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice. in Frontiers in cellular neuroscience / Front Cell Neurosci. 2017 Oct 30;11:343. doi: 10.3389/fncel.2017.00343. eCollection 2017.
2017
AOU Città della Salute di Torino

Hoxha E; Gabriele RMC; Balbo I; Ravera F; Masante L; Zambelli V; Albergo C; Mitro N; Caruso D; Di Gregorio E; Brusco A; Borroni B; Tempia F; Hoxha E; Gabriele RMC; Balbo I; Ravera F; Masante L; Zambelli V; Albergo C; Mitro N; Caruso D; Di Gregorio E; Brusco A; Borroni B; Tempia F;

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;

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;

Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38). in Parkinsonism & related disorders / Parkinsonism Relat Disord. 2016 Jul;28:80-6. doi: 10.1016/j.parkreldis.2016.04.030. Epub 2016 Apr 27
2016
AOU Città della Salute di Torino

Borroni B; Di Gregorio E; Orsi L; Vaula G; Costanzi C; Tempia F; Mitro N; Caruso D; Manes M; Pinessi L; Padovani A; Brusco A; Boccone L; Borroni B; Di Gregorio E; Orsi L; Vaula G; Costanzi C; Tempia F; Mitro N; Caruso D; Manes M; Pinessi L; Padovani A; Brusco A; Boccone L;

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...

CNV analysis in 169 patients with bladder exstrophy-epispadias complex. in BMC medical genetics / BMC Med Genet. 2016 Apr 30;17(1):35. doi: 10.1186/s12881-016-0299-x.
2016
AOU Città della Salute di Torino

von Lowtzow C; Hofmann A; Zhang R; Marsch F; Ebert AK; Rösch W; Stein R; Boemers TM; Hirsch K; Marcelis C; Feitz WF; Brusco A; Migone N; Di Grazia M; Moebus S; Nöthen MM; Reutter H; Ludwig M; Draaken M;

Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans. in Cerebellum (London, England) / Cerebellum. 2016 Apr;15(2):208-12. doi: 10.1007/s12311-015-0679-3.
2016
ASL Torino 3
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Losa S; De Marchi M; Rolando M; Iudicello M; De Mercanti S; Goel H; Giachino D; Di Gregorio E; Brusco A; Mandrile G;

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;

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia. in American journal of human genetics / Am J Hum Genet. 2015 Nov 5;97(5):726-37. doi: 10.1016/j.ajhg.2015.09.007. Epub 2015 Oct 8.
2015
AOU Città della Salute di Torino

Coutelier M; Blesneac I; Monteil A; Monin ML; Ando K; Mundwiller E; Brusco A; Le Ber I; Anheim M; Castrioto A; Duyckaerts C; Brice A; Durr A; Lory P; Stevanin G;

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;

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. in Brain : a journal of neurology / Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26.
2014
AOU Città della Salute di Torino

Tezenas du Montcel S; Durr A; Bauer P; Figueroa KP; Ichikawa Y; Brussino A; Forlani S; Rakowicz M; Schöls L; Mariotti C; van de Warrenburg BP; Orsi L; Giunti P; Filla A; Szymanski S; Klockgether T; Berciano J; Pandolfo M; Boesch S; Melegh B; Timmann D; Mandich P; Camuzat A; Goto J; Ashizawa T; Cazeneuve C; Tsuji S; Pulst SM; Brusco A; et alii...

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;

A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. in Case reports in genetics / Case Rep Genet. 2014;2014:470830. doi: 10.1155/2014/470830. Epub 2014 Nov 23.
2014
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Savin E; Giachino DF; Grosso E; Brussino A; Calcia A; Di Gregorio E; Mandrile G; 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;

1993
AOU Città della Salute di Torino

Brusco A; Di Gregorio E; Borroni B;