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Collezione AOU Città della Salute di Torino

  

Items : 37

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;

Brain Metabolic Features of FUS-ALS: A 2-[(18)F]FDG-PET Study. in Annals of neurology / Ann Neurol. 2025 Feb 20. doi: 10.1002/ana.27201.
2025
AOU Città della Salute di Torino

Canosa A; Manera U; Vasta R; Zocco G; Di Pede F; Cabras S; De Mattei F; Palumbo F; Iazzolino B; Minerva E; Sbaiz L; Brunetti M; Gallone S; Grassano M; Matteoni E; Polverari G; Fuda G; Casale F; Salamone P; De Marco G; Marchese G; Moglia C; Calvo A; Pagani M; Chiò A;

Adult-onset spastic paraplegia associated with a novel SPTBN2 missense heterozygous variant. in Acta neurologica Belgica / Acta Neurol Belg. 2024 Oct;124(5):1739-1740. doi: 10.1007/s13760-024-02543-8. Epub 2024 Apr 4.
2024
AOU Città della Salute di Torino

Calvo A; Moglia C; Canosa A; Palumbo F; Gallone S;

Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data. in Cell genomics / Cell Genom. 2024 Nov 13;4(11):100679. doi: 10.1016/j.xgen.2024.100679. Epub 2024 Oct 21.
2024
AOU Città della Salute di Torino
AOU Novara

Silani V; Siciliano G; Nath A; Wang T; Pasternack N; Doucet-O'Hare T; Johnson K; Gellera C; Ratti A; Pal S; Chandran S; D'Alfonso S; Cereda C; Sorarù G; Hardiman O; McLaughlin R; Al-Chalabi A; van den Berg LH; Scholz SW; Dalgard CL; Dobson RJB; Breen G; Shaw PJ; Cooper-Knock J; Morrison KE; Patel H; Chung R; Lee SH; Curtis CJ; et alii...

EMILIN1 gene variant associated with polyneuropathy, language impairment, and motor dysfunction. in American journal of medical genetics. Part A / Am J Med Genet A. 2024 Nov;194(11):e63808. doi: 10.1002/ajmg.a.63808. Epub 2024 Jul 4.
2024
AOU Città della Salute di Torino

Gallone S; Calvo A; Canosa A; Tessa A; Romano A; Moglia C; Palumbo F;

Epidemiology of Spinocerebellar Ataxias in Europe. in Cerebellum (London, England) / Cerebellum. 2024 Jun;23(3):1176-1183. doi: 10.1007/s12311-023-01600-x. Epub 2023 Sep 12.
2024
AOU Città della Salute di Torino

Chiò A; Calvo A; Canosa A; Gallone S; Ferrandes F; De Mattei F; Vasta R;

2024
AOU Città della Salute di Torino

Moglia C; Chiò A; Calvo A; Gadaleta G; Mongini TE; Grassano M; Canosa A; Di Pede F; Cabras S; Gallone S;

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;

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;

High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with SOD1 Pathogenic Variants. in Annals of neurology / Ann Neurol. 2024 Jul;96(1):150-158. doi: 10.1002/ana.26928. Epub 2024 Apr 3.
2024
AOU Città della Salute di Torino

Iazzolino B; Palumbo F; Peotta L; Cabras S; Sbaiz L; Brunetti M; Gallone S; Matteoni E; De Mattei F; Daviddi M; Grassano M; Vasta R; Manera U; Canosa A; Moglia C; Calvo A; Mora G; Chiò A;

Cognitive and Behavioral Features of Patients With Amyotrophic Lateral Sclerosis Who Are Carriers of the TARDBP Pathogenic Variant. in Neurology / Neurology. 2024 Feb 27;102(4):e208082. doi: 10.1212/WNL.0000000000208082. Epub 2024 Jan 23.
2024
AOU Città della Salute di Torino

Iazzolino B; Mora G; Palumbo F; Peotta L; Grassano M; Gallone S; Cabras S; Sbaiz L; Brunetti M; Matteoni E; Daviddi M; Di Pede F; Vasta R; Manera U; Canosa A; Calvo A; Moglia C; Chio A;

Intermediate HTT CAG repeats worsen disease severity in amyotrophic lateral sclerosis. in Journal of neurology, neurosurgery, and psychiatry / J Neurol Neurosurg Psychiatry. 2024 Dec 16;96(1):100-102. doi: 10.1136/jnnp-2024-333998.
2024
AOU Città della Salute di Torino

Grassano M; Canosa A; D'Alfonso S; Corrado L; Brodini G; Koumantakis E; Cugnasco P; Manera U; Vasta R; Palumbo F; Mazzini L; Gallone S; Moglia C; Dewan R; Chia R; Ding J; Dalgard C; Gibbs RJ; Scholz S; Calvo A; Traynor B; Chio A;

A novel DHTKD1 variant is associated with an atypical form of Charcot-Marie-Tooth disease type 2Q? in Acta neurologica Belgica / Acta Neurol Belg. 2024 Apr;124(2):693-694. doi: 10.1007/s13760-023-02419-3. Epub 2023 Oct 31.
2024
AOU Città della Salute di Torino

Moglia C; Chiò A; Canosa A; Matteoni E; Gallone S;

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature. in Neurogenetics / Neurogenetics. 2024 Apr;25(2):51-67. doi: 10.1007/s10048-024-00749-9. Epub 2024 Feb 9.
2024
AOU Città della Salute di Torino

Tessa A; D'Amico J; Piemonte F; Rossi S; Silvestri G; Gallone S; Musumeci O; Coppola G; Cioffi E; Santorelli FM; Casali C;

A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease. in Clinical genetics / Clin Genet. 2024 Apr;105(4):430-433. doi: 10.1111/cge.14472. Epub 2023 Dec 13.
2024
AOU Città della Salute di Torino

Gallone S; Calvo A; Moglia C; Vasta R; Manera U; Di Pede F; Cabras S; Canosa A; Chiò A;

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;

A patient with demyelinating CMT carrying the p.Y347C heterozygous variant of the MME gene and the p.L131F heterozygous variant of the HARS1 gene. in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology / Neurol Sci. 2023 Apr;44(4):1455-1456. doi: 10.1007/s10072-022-06553-3. Epub 2022 Dec 15.
2023
AOU Città della Salute di Torino

Ferrero B; Tessa A; Canosa A; Parisi M; Gallone S;

Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review. in Journal of neurology / J Neurol. 2023 Apr;270(4):2345-2346. doi: 10.1007/s00415-023-11589-2.
2023
AOU Città della Salute di Torino

Della Vecchia S; Tessa A; Dosi C; Baldacci J; Pasquariello R; Antenora A; Astrea G; Bassi MT; Battini R; Casali C; Ciof E; Conti G; De Michele G; Ferrari AR; Filla A; Fiorillo C; Fusco C; Gallone S; Germiniasi C; Guerrini R; Haggiag S; Lopergolo D; Martinuzzi A; Melani F; Mignarri A; Panzeri E; Pini A; Pinto AM; Pochiero F; et alii...

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;

Brain (18)fluorodeoxyglucose-positron emission tomography changes in amyotrophic lateral sclerosis with TARDBP mutations. in Journal of neurology, neurosurgery, and psychiatry / J Neurol Neurosurg Psychiatry. 2022 Sep;93(9):1021-1023. doi: 10.1136/jnnp-2021-328296. Epub 2022 Ma
2022
AOU Città della Salute di Torino

Grassano M; Gallone S; Sbaiz L; Matteoni E; Salamone P; Novara A; Arena V; Cabras S; Di Pede F; Fuda G; Palumbo F; Vasta R; Moglia C; Calvo A; Canosa A; Manera U; Chiò A; Pagani M;

Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis. in Neurology. Genetics / Neurol Genet. 2022 Sep 12;8(5):e200011. doi: 10.1212/NXG.0000000000200011. eCollection 2022 Oct.
2022
AOU Città della Salute di Torino

Grassano M; Brodini G; De Marco G; Casale F; Fuda G; Salamone P; Brunetti M; Sbaiz L; Gallone S; Cugnasco P; Bombaci A; Vasta R; Manera U; Canosa A; Moglia C; Calvo A; Traynor BJ; Chio A;

A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing. in International journal of molecular sciences / Int J Mol Sci. 2022 Nov 23;23(23):14567. doi: 10.3390/ijms232314567.
2022
AOU Città della Salute di Torino

Marinella G; Astrea G; Buchignani B; Cassandrini D; Doccini S; Filosto M; Galatolo D; Gallone S; Giannini F; Lopergolo D; Maioli MA; Magri F; Malandrini A; Mandich P; Mari F; Massa R; Mata S; Melani F; Moggio M; Mongini TE; Pasquariello R; Pegoraro E; Ricci F; Ricci G; Rodolico C; Rubegni A; Siciliano G; Sperti M; Ticci C; et alii...

Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes. in European journal of nuclear medicine and molecular imaging / Eur J Nucl Med Mol Imaging. 2022 Jun;49(7):2242-2250. doi: 10.1007/s00259-021-05668-7. Epub 2022 Jan
2022
AOU Città della Salute di Torino

Pagani M; Manera U; Grassano M; Gallone S; Sbaiz L; Brunetti M; Casale F; Zocco G; Arena V; Cabras S; Di Pede F; Solero L; Palumbo F; Vasta R; Moglia C; Calvo A; Canosa A; Chiò A;

Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review. in Journal of neurology / J Neurol. 2022 Jan;269(1):437-450. doi: 10.1007/s00415-021-10792-3. Epub 2021 Sep 6.
2022
AOU Città della Salute di Torino

Romaniello R; Renieri A; Procopio E; Primiano G; Pochiero F; Pinto AM; Pini A; Panzeri E; Mignarri A; Melani F; Martinuzzi A; Lopergolo D; Haggiag S; Guerrini R; Germiniasi C; Gallone S; Fusco C; Fiorillo C; Filla A; Ferrari AR; De Michele G; Conti G; Cioffi E; Casali C; Battini R; Bassi MT; Astrea G; Antenora A; Baldacci J; et alii...

Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review. in Journal of neurology / J Neurol. 2022 Jan;269(1):451. doi: 10.1007/s00415-021-10839-5.
2022
AOU Città della Salute di Torino

Della Vecchia S; Tessa A; Dosi C; Baldacci J; Pasquariello R; Antenora A; Astrea G; Bassi MT; Battini R; Casali C; Cioffi E; Conti G; De Michele G; Ferrari AR; Filla A; Fiorillo C; Fusco C; Gallone S; Germiniasi C; Guerrini R; Haggiag S; Lopergolo D; Martinuzzi A; Melani F; Mignarri A; Panzeri E; Pini A; Pinto AM; Pochiero F; et alii...

An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia. in Muscle & nerve / Muscle Nerve. 2022 Jan;65(1):96-104. doi: 10.1002/mus.27448. Epub 2021 Nov 8.
2022
ASL Alessandria
AOU Città della Salute di Torino

Fiorillo C; Grandis M; Mandich P; Bruno C; Schenone A; Rota E; Minetti C; Origone P; Iodice R; Pisciotta L; Zara F; Patrone S; Gallone S; Mongini T; Ruggiero L; Prada V; Fabbri S; Scarsi E; Carlini B; Trevisan L; Gemelli C; Traverso M;

A novel splice site FUS mutation in a familial ALS case: effects on protein expression. in Amyotrophic lateral sclerosis & frontotemporal degeneration / Amyotroph Lateral Scler Frontotemporal Degener. 2022 Feb;23(1-2):128-136. doi: 10.1080/21678421.2021
2022
AOU Città della Salute di Torino

Chiò A; Calvo A; Moglia C; Gallone S; Sbaiz L; Fuda G; Salamone P; Vasta R; Manera U; Brunetti M; Grassano M; De Marco G; Lomartire A; Canosa A;

Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks. in International journal of molecular sciences / Int J Mol Sci. 2022 Dec 30;24(1):657. doi: 10.3390/ijms24010657.
2022
AOU Città della Salute di Torino

Rubino E; Marcinnò A; Grassini A; Piella EM; Ferrandes F; Roveta F; Boschi S; Cermelli A; Gallone S; Savi L; Rainero I;

Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis. in Neurology. Genetics / Neurol Genet. 2022 Oct 26;8(6):e200033. doi: 10.1212/NXG.0000000000200033. eCollection 2022 Dec.
2022
AOU Città della Salute di Torino
AOU Novara

Chio A; Traynor BJ; Mazzini L; Dalfonso S; Corrado L; Chia R; Scholz SW; Dalgard C; Pagani M; Arena V; De Marchi F; Brunetti M; Gallone S; Cugnasco P; Palumbo F; Grassano M; Vasta R; Manera U; Moglia C; Canosa A; Calvo 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...

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;

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study. in Frontiers in neurology / Front Neurol. 2018 Dec 4;9:981. doi: 10.3389/fneur.2018.00981. eCollection 2018.
2018
AOU Città della Salute di Torino

Pons MR; Pochiero F; Pini A; Petrucci A; Perna A; Pegoraro E; Musumeci O; Milone R; Mignarri A; Melone MAB; Massacesi L; Mari F; Marcotulli C; Mandich P; Malandrini A; Marques Louren?o C; Lieto M; Kariminejad A; Gurrieri F; Graziano C; Guerrini R; Gigli GL; Gemignani F; Gallone S; Fini N; Fiorillo C; Felicori M; Di Iorio G; Donadio V; et alii...

Late onset bipolar disorder and frontotemporal dementia with mutation in progranulin gene: a case report. in Amyotrophic lateral sclerosis & frontotemporal degeneration / Amyotroph Lateral Scler Frontotemporal Degener. 2017 Nov;18(7-8):624-626. doi: 10.1080/21678421.2017
2017
AOU Città della Salute di Torino

Rubino E; Vacca A; Gallone S; Govone F; Zucca M; Gai A; Ferrero P; Fenoglio P; Giordana MT; Rainero I; Rubino E; Vacca A; Gallone S; Govone F; Zucca M; Gai A; Ferrero P; Fenoglio P; Giordana MT; Rainero I;

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;

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;