Sfoglia per AUTORE
BARBERIS M
Collezione AOU Città della Salute di Torino

  

Items : 30

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...

Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis. in Neurology / Neurology. 2023 Jul 4;101(1):e83-e93. doi: 10.1212/WNL.0000000000207367. Epub 2023 May 18.
2023
AOU Città della Salute di Torino
AOU Novara

Calvo A; Mazzini L; D'Alfonso S; Corrado L; Traynor BJ; Peotta L; Iazzolino B; Mora G; Chia R; Dalgard C; De Marchi F; Barberis M; Brunetti M; Gallone S; Palumbo F; Vasta R; Grassano M; Manera U; Canosa A; Moglia C; Chiò A;

The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations. in Biomedicines / Biomedicines. 2023 Feb 24;11(3):704. doi: 10.3390/biomedicines11030704.
2023
AOU Città della Salute di Torino

Canosa A; Calvo A; Mora G; Moglia C; Brunetti M; Barberis M; Borghero G; Caponnetto C; Trojsi F; Spataro R; Volanti P; Simone IL; Salvi F; Logullo FO; Riva N; Tremolizzo L; Giannini F; Mandrioli J; Tanel R; Murru MR; Mandich P; Conforti FL; Zollino M; Sabatelli M; Tarlarini C; Lunetta C; Mazzini L; D'Alfonso S; Guy N; et alii...

Evaluation of the Effects of Different Sample Collection Strategies on DNA/RNA Co-Analysis of Forensic Stains. in Genes / Genes (Basel). 2022 May 30;13(6):983. doi: 10.3390/genes13060983.
2022
AOU Città della Salute di Torino

Lacerenza D; Caudullo G; Chierto E; Aneli S; Di Vella G; Barberis M; Voyron S; Berchialla P; Robino C;

Systematic evaluation of genetic mutations in ALS: a population-based study. in Journal of neurology, neurosurgery, and psychiatry / J Neurol Neurosurg Psychiatry. 2022 Jul 27;93(11):1190-3. doi: 10.1136/jnnp-2022-328931.
2022
AOU Città della Salute di Torino

Grassano M; Calvo A; Moglia C; Sbaiz L; Brunetti M; Barberis M; Casale F; Manera U; Vasta R; Canosa A; D'Alfonso S; Corrado L; Mazzini L; Dalgard C; Karra R; Chia R; Traynor B; Chiò A;

Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats. in Journal of neurology, neurosurgery, and psychiatry / J Neurol Neurosurg Psychiatry. 2022 Aug 25;93(11):1216-20. doi: 10.1136/jnnp-2022-329376.
2022
AOU Città della Salute di Torino
AOU Novara

Corrado L; Traynor B; Peotta L; Iazzolino B; Mora G; Chia R; Dalgard C; De Marchi F; Barberis M; Brunetti M; Gallone S; Palumbo F; Vasta R; Grassano M; Canosa A; Manera U; Moglia C; Chio A; D'Alfonso S; Mazzini L; Calvo A;

GBA variants influence cognitive status in amyotrophic lateral sclerosis. in Journal of neurology, neurosurgery, and psychiatry / J Neurol Neurosurg Psychiatry. 2022 Apr;93(4):453-455. doi: 10.1136/jnnp-2021-327426. Epub 2021 Sep
2022
AOU Città della Salute di Torino

Mazzini L; D'Alfonso S; Corrado L; Traynor B; Vasta R; Manera U; Cabras S; Palumbo F; Sbaiz L; Barberis M; Brunetti M; Gallone S; Peotta L; Iazzolino B; Moglia C; Grassano M; Canosa A; Calvo A; Chio A;

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. in JAMA neurology / JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598.
2021
AOU Città della Salute di Torino
AOU Novara

Tremolizzo L; Trojsi F; Torriello A; Tranquilli S; Tedeschi G; Ticca A; Tanel R; Simonini C; Spataro R; Simone I; Sbaiz L; Sideri R; Santarelli M; Salivetto M; Salvi F; Sabatelli M; Salamone P; Riolo G; Riva N; Russo M; Ricci C; Pugliatti M; Quattrini A; Pozzi S; Petrelli C; Petrucci A; Passaniti C; Origone P; Murru MR; et alii...

Differential Neuropsychological Profile of Patients With Amyotrophic Lateral Sclerosis With and Without C9orf72 Mutation. in Neurology / Neurology. 2021 Jan 5;96(1):e141-e152. doi: 10.1212/WNL.0000000000011093. Epub 2020 Oct 26.
2021
AOU Città della Salute di Torino

Chiò A; Calvo A; Moglia C; Sbaiz L; Barberis M; Brunetti M; Palumbo F; Grassano M; Vasta R; Manera U; Canosa A; Zucchetti JP; Peotta L; Iazzolino B;

Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort. in Neurology / Neurology. 2021 Jan 26;96(4):e600-e609. doi: 10.1212/WNL.0000000000011209. Epub 2020 Nov 18.
2021
AOU Città della Salute di Torino

Chiò A; Traynor BJ; Chia R; Gibbs RJ; Ding J; Dalgard C; Scholz SW; Mazzini L; D'Alfonso S; Corrado L; Vasta R; Manera U; Canosa A; Sbaiz L; Barberis M; Brunetti M; Moglia C; Calvo A; Grassano M;

Real-World Data on NGS Diagnostics: a survey from the Italian Society of Pathology (SIAPeC) NGS Network. in Pathologica / Pathologica. 2021 Aug;113(4):262-271. doi: 10.32074/1591-951X-324.
2021
AOU Città della Salute di Torino

Marchetti A; Barbareschi M; Barberis M; Buglioni S; Buttitta F; Fassan M; Fontanini G; Marchiò C; Papotti M; Pruneri G; Scarpa A; Stanta G; Tallini G; Troncone G; Veronese SM; Truini M; Sapino A;

A familial amyotrophic lateral sclerosis pedigree discordant for a novel p.Glu46Asp heterozygous OPTN variant and the p.Ala5Val heterozygous SOD1 missense mutation. in Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia / J Clin Neurosci. 2020 May;75:223-225. doi: 10.1016/j.jocn.2020.03.032. Epub 2020 Mar 27.
2020
AOU Città della Salute di Torino

Moglia C; Chiò A; Calvo A; De Marco G; Cammarosano S; Vasta R; Brunetti M; Manera U; Grassano M; Barberis M; Canosa A;

ALS phenotype is influenced by age, sex, and genetics: A population-based study. in Neurology / Neurology. 2020 Feb 25;94(8):e802-e810. doi: 10.1212/WNL.0000000000008869. Epub 2020 Jan 6.
2020
AOU Città della Salute di Torino

Chiò A; Moglia C; Canosa A; Manera U; D'Ovidio F; Vasta R; Grassano M; Brunetti M; Barberis M; Corrado L; D'Alfonso S; Iazzolino B; Peotta L; Sarnelli MF; Solara V; Zucchetti JP; De Marchi F; Mazzini L; Mora G; Calvo A;

Cognitive impairment across ALS clinical stages in a population-based cohort. in Neurology / Neurology. 2019 Sep 3;93(10):e984-e994. doi: 10.1212/WNL.0000000000008063. Epub 2019 Aug 13.
2019
AOU Città della Salute di Torino

Chiò A; Moglia C; Canosa A; Manera U; Vasta R; Brunetti M; Barberis M; Corrado L; D'Alfonso S; Bersano E; Sarnelli MF; Solara V; Zucchetti JP; Peotta L; Iazzolino B; Mazzini L; Mora G; Calvo A;

Parkinsonian traits in amyotrophic lateral sclerosis (ALS): a prospective population-based study. in Journal of neurology / J Neurol. 2019 Jul;266(7):1633-1642. doi: 10.1007/s00415-019-09305-0. Epub 2019 Apr 4.
2019
AOU Città della Salute di Torino

Li TQ; Valentini C; Carrara G; Canosa A; Iazzolino B; Romagnolo A; Montanaro E; Vasta R; Artusi CA; Cistaro A; Barberis M; Castellano G; Balma M; Brunetti M; Martone T; Manera U; Solero L; Moglia C; Dematteis F; Cammarosano S; Pagani M; Chiò A; Calvo A; Nobili F; Lopiano L; Rizzone MG;

Correlation between Apolipoprotein E genotype and brain metabolism in amyotrophic lateral sclerosis. in European journal of neurology / Eur J Neurol. 2019 Feb;26(2):306-312. doi: 10.1111/ene.13812. Epub 2018 Oct 24.
2019
AOU Città della Salute di Torino

Calvo A; Moglia C; Manera U; Cammarosano S; Ilardi A; Iazzolino B; Barberis M; Brunetti M; Pagani M; Canosa A; Cistaro A; Chiò A; Canosa A; Pagani M; Brunetti M; Barberis M; Iazzolino B; Ilardi A; Cammarosano S; Manera U; Moglia C; Calvo A; Cistaro A; Chiò A;

Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort. in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology / Neurol Sci. 2019 Dec;40(12):2537-2540. doi: 10.1007/s10072-019-04001-3. Epub 2019 Jul 9.
2019
AOU Città della Salute di Torino
AOU Novara

Mazzini L; Moglia C; Calvo A; Barizzone N; Zuccalà M; De Marchi F; Bersano E; Croce R; Barberis M; Di Pierro A; Brunetti M; Corrado L; Chiò A; D'Alfonso S;

2018
AOU Città della Salute di Torino

Mora G; Barberis M; Brunetti M; Traynor BJ; Bertuzzo D; Ilardi A; Cammarosano S; Canosa A; Moglia C; Calvo A; Casale F; Chiò A;

A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formation of a premature stop codon in an apparently sporadic ALS patient: insights into the underlying pathomechanisms. in Neurobiology of aging / Neurobiol Aging. 2018 Dec;72:189.e11-189.e17. doi: 10.1016/j.neurobiolaging.2018.08.014. Epub 2018 A
2018
AOU Città della Salute di Torino

Canosa A; De Marco G; Lomartire A; Rinaudo MT; Di Cunto F; Turco E; Barberis M; Brunetti M; Casale F; Moglia C; Calvo A; Marklund SL; Andersen PM; Mora G; Chiò A; Canosa A; De Marco G; Lomartire A; Rinaudo MT; Di Cunto F; Turco E; Barberis M; Brunetti M; Casale F; Moglia C; Calvo A; Marklund SL; Andersen PM; Mora G; et alii...

Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1. in Human mutation / Hum Mutat. 2016 Nov;37(11):1202-1208. doi: 10.1002/humu.23062. Epub 2016 Aug 30.
2016
AOU Città della Salute di Torino

Capponi S; Geuens T; Geroldi A; Origone P; Verdiani S; Cichero E; Adriaenssens E; De Winter V; Bandettini di Poggio M; Barberis M; Chiò A; Fossa P; Mandich P; Bellone E; Timmerman V;

ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion. in Neurobiology of aging / Neurobiol Aging. 2016 Mar;39:218.e5-8. doi: 10.1016/j.neurobiolaging.2015.11.027. Epub 2015 Dec 8.
2016
AOU Città della Salute di Torino

Restagno G; D'Alfonso S; Mazzini L; Penco S; Zollino M; Origone P; Murru MR; Battistini S; Capasso M; Tremolizzo L; Tanel R; Mandrioli J; Giannini F; Carrera P; Riva N; Logullo FO; Salvi F; Simone I; Volanti P; La Bella V; Trojsi F; Borghero G; Moglia C; Calvo A; Nalls MA; Johnson JO; Lunetta C; Traynor BJ; Sabatelli M; et alii...

TBK1 is associated with ALS and ALS-FTD in Sardinian patients. in Neurobiology of aging / Neurobiol Aging. 2016 Jul;43:180.e1-5. doi: 10.1016/j.neurobiolaging.2016.03.028. Epub 2016 Apr 9.
2016
AOU Città della Salute di Torino

Borghero G; Pugliatti M; Marrosu F; Marrosu MG; Murru MR; Floris G; Cannas A; Occhineri P; Cau TB; Loi D; Ticca A; Traccis S; Manera U; Canosa A; Moglia C; Calvo A; Barberis M; Brunetti M; Gibbs JR; Renton AE; Errichiello E; Zoledziewska M; Mulas A; Qian Y; Din J; Pliner HA; Traynor BJ; Chiò A; Borghero G; et alii...

The Role of APOE in the Occurrence of Frontotemporal Dementia in Amyotrophic Lateral Sclerosis. in JAMA neurology / JAMA Neurol. 2016 Apr;73(4):425-30. doi: 10.1001/jamaneurol.2015.4773.
2016
AOU Città della Salute di Torino

Chiò A; Brunetti M; Barberis M; Iazzolino B; Montuschi A; Ilardi A; Cammarosano S; Canosa A; Moglia C; Calvo A;

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis. in Human mutation / Hum Mutat. 2016 Apr;37(4):364-70. doi: 10.1002/humu.22951. Epub 2016 Jan 12.
2016
AOU Città della Salute di Torino

Ekong R; Nellist M; Hoogeveen-Westerveld M; Wentink M; Panzer J; Sparagana S; Emmett W; Dawson NL; Malinge MC; Nabbout R; Carbonara C; Barberis M; Padovan S; Futema M; Plagnol V; Humphries SE; Migone N; Povey S;

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry. in Neurobiology of aging / Neurobiol Aging. 2015 Oct;36(10):2906.e1-5. doi: 10.1016/j.neurobiolaging.2015.06.013. Epub 2015 Jun
2015
AOU Città della Salute di Torino

Borghero G; Pugliatti M; Marrosu F; Marrosu MG; Murru MR; Floris G; Cannas A; Parish LD; Cau TB; Loi D; Ticca A; Traccis S; Manera U; Canosa A; Moglia C; Calvo A; Barberis M; Brunetti M; Renton AE; Nalls MA; Traynor BJ; Restagno G; Chiò A;

HFE p.H63D polymorphism does not influence ALS phenotype and survival. in Neurobiology of aging / Neurobiol Aging. 2015 Oct;36(10):2906.e7-11. doi: 10.1016/j.neurobiolaging.2015.06.016. Epub 2015 Ju
2015
AOU Città della Salute di Torino

Chiò A; Mora G; Sabatelli M; Caponnetto C; Lunetta C; Traynor BJ; Johnson JO; Nalls MA; Calvo A; Moglia C; Borghero G; Monsurrò MR; La Bella V; Volanti P; Simone I; Salvi F; Logullo FO; Nilo R; Giannini F; Mandrioli J; Tanel R; Murru MR; Mandich P; Zollino M; Conforti FL; Penco S; Brunetti M; Barberis M; Restagno G; et alii...

ATXN2 polyQ intermediate repeats are a modifier of ALS survival. in Neurology / Neurology. 2015 Jan 20;84(3):251-8. doi: 10.1212/WNL.0000000000001159. Epub 2014 Dec 19.
2015
AOU Città della Salute di Torino

D'Alfonso S; Mazzini L; Bersano E; Mora G; Corrado L; Bagarotti A; Sabatelli M; Zollino M; Lattante S; Moncada A; Marangi G; Bisogni G; Conte A; Restagno G; Barberis M; Brunetti M; Canosa A; Moglia C; Calvo A; Chiò A;

CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients. in Neurobiology of aging / Neurobiol Aging. 2015 Apr;36(4):1767.e3-1767.e6. doi: 10.1016/j.neurobiolaging.2015.01.017. Epub 201
2015
AOU Città della Salute di Torino

Borghero G; Moglia C; Calvo A; Nalls MA; Johnson JO; Traynor BJ; Sabatelli M; Caponnetto C; Mora G; Chiò A; Monsurrò MR; La Bella V; Volanti P; Simone I; Salvi F; Logullo FO; Nilo R; Battistini S; Mandrioli J; Tanel R; Murru MR; Mandich P; Zollino M; Conforti FL; Brunetti M; Barberis M; Restagno G; Penco S; Lunetta C; et alii...

De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case. in Neurobiology of aging / Neurobiol Aging. 2014 Jun;35(6):1513.e7-11. doi: 10.1016/j.neurobiolaging.2013.12.028. Epub 2013 Dec
2014
AOU Città della Salute di Torino

Calvo A; Moglia C; Canosa A; Brunetti M; Barberis M; Traynor BJ; Carrara G; Valentini C; Restagno G; Chiò A;

Genetic architecture of ALS in Sardinia. in Neurobiology of aging / Neurobiol Aging. 2014 Dec;35(12):2882.e7-2882.e12. doi: 10.1016/j.neurobiolaging.2014.07.012. Epub 2
2014
AOU Città della Salute di Torino

Borghero G; Pugliatti M; Marrosu F; Marrosu MG; Murru MR; Floris G; Cannas A; Parish LD; Occhineri P; Cau TB; Loi D; Ticca A; Traccis S; Manera U; Canosa A; Moglia C; Calvo A; Barberis M; Brunetti M; Pliner HA; Renton AE; Nalls MA; Traynor BJ; Restagno G; Chiò A;

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