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D'ALFONSO S
Collezione AOU Novara

  

Items : 38

A Novel GBF1 Variant in a Charcot-Marie-Tooth Type 2: Insights from Familial Analysis. in Genes / Genes (Basel). 2024 Nov 29;15(12):1556. doi: 10.3390/genes15121556.
2024
AOU Novara

Ciampana V; Corrado L; Magistrelli L; Contaldi E; Comi C; D'Alfonso S; Vecchio D;

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...

2024
AOU Novara

Ferrari M; Vecchio D; D'Alfonso S; Gemma A; Marino F; Comi C; Cosentino M;

BRAT1 Mutation Retrospective Diagnosis: A Case Report. in Cureus / Cureus. 2023 Mar 1;15(3):e35655. doi: 10.7759/cureus.35655. eCollection 2023 Mar.
2023
AOU Alessandria
AOU Novara

Spano A; Dusio MP; Valerio M; Vercellino F; D'Alfonso S;

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;

2022
AOU Città della Salute di Torino
AOU Novara

Silani V; Weber M; Rouleau GA; Pinto S; de Carvalho M; Petri S; Wallace L; Henders AK; Curtis CJ; Breen G; Sachdev PS; Mather KA; Williams KL; Steyn FJ; Rowe DB; Pamphlett R; Nicholson GA; Ngo ST; Needham M; McCombe PA; Mathers S; Furlong S; Henderson RD; Benyamin B; Kiernan MC; Blair IP; Povedano M; Stevi? Z; Drory V; et alii...

Burden of rare coding variants in an Italian cohort of familial multiple sclerosis. in Journal of neuroimmunology / J Neuroimmunol. 2022 Jan 15;362:577760. doi: 10.1016/j.jneuroim.2021.577760. Epub 2021 Nov 5.
2022
AOU Novara

Esposito F; Filippi M; Comi G; Vecchio D; Bresolin N; Moiola L; Protti A; Liguori M; Pozzato M; Guerini FR; Biancolini D; Bonfiglio S; Ferrè L; Santoro S; Basagni C; Barizzone N; Sorosina M; Guaschino C; Zauli A; Mascia E; Clarelli F; D'Alfonso S; Martinelli-Boneschi F;

A Scoping Review on Body Fluid Biomarkers for Prognosis and Disease Activity in Patients with Multiple Sclerosis. in Journal of personalized medicine / J Pers Med. 2022 Aug 31;12(9):1430. doi: 10.3390/jpm12091430.
2022
AOU Novara

Barizzone N; Leone M; Pizzino A; Kockum I; Martinelli-Boneschi F; D'Alfonso S;

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;

Correction to: A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility. in Journal of neurology / J Neurol. 2022 Aug;269(8):4523-4524. doi: 10.1007/s00415-022-11216-6.
2022
AOU Novara

Patsopoulos NA; De Jager PL; Filippi M; Leone M; Comi G; Martinelli V; Cusi D; Barlassina C; Zollo A; Ferrè L; Santoro S; Cavalla P; Vecchio D; Zuccalà M; Mascia E; Roostaei T; Bordoni R; Mangano E; Salvi E; Lupoli S; Anand S; Clarelli F; Barizzone N; Sorosina M; De Bellis G; Esposito F; D'Alfonso S; Martinelli Boneschi F;

A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility. in Journal of neurology / J Neurol. 2022 Aug;269(8):4510-4522. doi: 10.1007/s00415-022-11109-8. Epub 2022 May 12.
2022
AOU Novara

Patsopoulos NA; De Jager PL; Filippi M; Leone M; Comi G; Martinelli V; Cusi D; Barlassina C; Zollo A; Ferrè L; Santoro S; Cavalla P; Vecchio D; Zuccalà M; Mascia E; Roostaei T; Bordoni R; Mangano E; Salvi E; Lupoli S; Anand S; Clarelli F; Barizzone N; Sorosina M; De Bellis G; Esposito F; D'Alfonso S; Martinelli Boneschi F;

Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients. in Antioxidants (Basel, Switzerland) / Antioxidants (Basel). 2022 Apr 22;11(5):815. doi: 10.3390/antiox11050815.
2022
AOU Novara

Perciballi E; Bovio F; Rosati J; Arrigoni F; D'Anzi A; Lattante S; Gelati M; De Marchi F; Lombardi I; Ruotolo G; Forcella M; Mazzini L; D'Alfonso S; Corrado L; Sabatelli M; Conte A; De Gioia L; Martino S; Vescovi AL; Fusi P; Ferrari D;

Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers. in NeuroImage. Clinical / Neuroimage Clin. 2022;36:103222. doi: 10.1016/j.nicl.2022.103222. Epub 2022 Oct 5.
2022
ASL Vercelli
AOU Novara

Perani D; Sacchetti GM; Cantello R; D'Alfonso S; Matheoud R; Corrado L; Sarnelli MF; Caminiti SP; Mazzini L; Tondo G; Comi C; De Marchi F;

C9ORF72 Repeat Expansion Affects the Proteome of Primary Skin Fibroblasts in ALS. in International journal of molecular sciences / Int J Mol Sci. 2021 Sep 27;22(19):10385. doi: 10.3390/ijms221910385.
2021
AOU Novara

Lualdi M; Shafique A; Pedrini E; Pieroni L; Greco V; Castagnola M; Cucina G; Corrado L; Di Pierro A; De Marchi F; Camillo L; Colombrita C; D'Anca M; Alberio T; D'Alfonso S; Fasano M;

2021
AOU Novara

Barizzone N; Cagliani R; Basagni C; Clarelli F; Mendozzi L; Agliardi C; Forni D; Tosi M; Mascia E; Favero F; Corà D; Corrado L; Sorosina M; Esposito F; Zuccalà M; Vecchio D; Liguori M; Comi C; Comi G; Martinelli V; Filippi M; Leone M; Martinelli-Boneschi F; Caputo D; Sironi M; Guerini FR; D'Alfonso S;

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...

Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series. in Neurogenetics / Neurogenetics. 2021 Mar;22(1):65-70. doi: 10.1007/s10048-021-00634-9. Epub 2021 Jan 20.
2021
ASL Novara
AOU Novara

Mazzini L; D'Alfonso S; Comi C; Garavaglia B; Cantello R; Invernizzi F; Nasuelli N; Carecchio M; Basagni C; De Marchi F; Croce R; Magistrelli L; Corrado L;

Genomic and functional evaluation of TNFSF14 in multiple sclerosis susceptibility. in Journal of genetics and genomics = Yi chuan xue bao / J Genet Genomics. 2021 Jun 20;48(6):497-507. doi: 10.1016/j.jgg.2021.03.017. Epub 2021 May 25.
2021
AOU San Luigi di Orbassano
AOU Novara

D'Alfonso S; Dianzani U; Martinelli-Boneschi F; Leone M; De Bellis G; Esposito F; Filippi M; Comi G; Cantello R; Martinelli V; Ivashynka A; Solaro C; Ferrante D; Gajofatto A; Perga S; Corsetti E; Martire S; Mangano E; Vecchio D; Clarelli F; Anand S; Bordoni R; Basagni C; Boggio E; Gigliotti L; Sorosina M; Barizzone N; Zuccalà M;

2021
AOU Città della Salute di Torino
AOU Novara

Sachdev PS; Mather KA; Williams KL; Steyn FJ; Rowe DB; Pamphlett R; Nicholson GA; Ngo ST; Needham M; McCombe PA; Mathers S; Furlong S; Henderson RD; Benyamin B; Kiernan MC; Blair IP; Povedano M; Stevi? Z; Drory V; Glava? D; Ravnik-Glava? M; Zidar J; Koritnik B; Rogelj B; Ataulina A; Demeshonok V; Fominykh V; Brylev L; Hübner CA; et alii...

Contribution of Rare and Low-Frequency Variants to Multiple Sclerosis Susceptibility in the Italian Continental Population. in Frontiers in genetics / Front Genet. 2022 Jan 3;12:800262. doi: 10.3389/fgene.2021.800262. eCollection 2021.
2021
AOU Novara

Clarelli F; Barizzone N; Mangano E; Zuccalà M; Basagni C; Anand S; Sorosina M; Mascia E; Santoro S; Guerini FR; Virgilio E; Gallo A; Pizzino A; Comi C; Martinelli V; Comi G; De Bellis G; Leone M; Filippi M; Esposito F; Bordoni R; Martinelli Boneschi F; D'Alfonso S;

The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS? in Amyotrophic lateral sclerosis & frontotemporal degeneration / Amyotroph Lateral Scler Frontotemporal Degener. 2020 May;21(3-4):273-279. doi: 10.1080/21678421.2019
2020
AOU Novara

Corrado L; Pensato V; Croce R; Di Pierro A; Mellone S; Dalla Bella E; Salsano E; Paraboschi EM; Giordano M; Saraceno M; Mazzini L; Gellera C; D'Alfonso S;

Regional spreading of symptoms at diagnosis as a prognostic marker in amyotrophic lateral sclerosis: a population-based study. in Journal of neurology, neurosurgery, and psychiatry / J Neurol Neurosurg Psychiatry. 2020 Mar;91(3):291-297. doi: 10.1136/jnnp-2019-321153. Epub 2019 Dec
2020
AOU Novara

Manera U; Calvo A; Daviddi M; Canosa A; Vasta R; Torrieri MC; Grassano M; Brunetti M; D'Alfonso S; Corrado L; De Marchi F; Moglia C; D'Ovidio F; Mora G; Mazzini L; Chiò A;

2020
AOU Novara

D'Anzi A; Altieri F; Perciballi E; Ferrari D; Bernardini L; Goldoni M; Mazzini L; De Marchi F; Di Pierro A; D'Alfonso S; Gelati M; Vescovi AL; Rosati J;

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;

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. in Neuron / Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027.
2018
AOU Novara

Nicolas A; Kenna KP; Renton AE; Ticozzi N; Faghri F; Chia R; Dominov JA; Kenna BJ; Nalls MA; Keagle P; Rivera AM; van Rheenen W; Murphy NA; van Vugt JJFA; Geiger JT; Van der Spek RA; Pliner HA; Shankaracharya; Smith BN; Marangi G; Topp SD; Abramzon Y; Gkazi AS; Eicher JD; Kenna A; Mora G; Calvo A; Mazzini L; Riva N; et alii...

Ptosis and bulbar onset: an unusual phenotype of familial ALS? in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology / Neurol Sci. 2018 Feb;39(2):377-378. doi: 10.1007/s10072-017-3186-0. Epub 2017 Nov 13.
2018
AOU Novara

De Marchi F; Corrado L; Bersano E; Sarnelli MF; Solara V; D'Alfonso S; Cantello R; Mazzini L;

Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases. in Amyotrophic lateral sclerosis & frontotemporal degeneration / Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):426-431. doi: 10.1080/21678421.2018
2018
AOU Novara

Corrado L; Tiloca C; Locci C; Bagarotti A; Hamzeiy H; Colombrita C; De Marchi F; Barizzone N; Cotella D; Ticozzi N; Mazzini L; Nazli Basak A; Ratti A; Silani V; D'alfonso S;

The Length of SNCA Rep1 Microsatellite May Influence Cognitive Evolution in Parkinson's Disease. in Frontiers in neurology / Front Neurol. 2018 Mar 29;9:213. doi: 10.3389/fneur.2018.00213. eCollection 2018.
2018
AOU Città della Salute di Torino
AOU Novara

Pacchetti C; Bono G; Comi GP; Magnani C; D'Alfonso S; Cereda C; Zangaglia R; Trezzi I; Locci C; Di Fonzo A; Riboldazzi G; Tesei S; Magistrelli L; Carecchio M; Oggioni GD; Tunesi S; De Marchi F; Corrado L; Cantello R; Goldwurm S; Comi C;

Overexpression of the Cytokine BAFF and Autoimmunity Risk. in The New England journal of medicine / N Engl J Med. 2017 Apr 27;376(17):1615-1626. doi: 10.1056/NEJMoa1610528.
2017
AOU Novara

Orrù V; Steri M; Idda ML; Pitzalis M; Pala M; Zara I; Sidore C; Faà V; Floris M; Deiana M; Asunis I; Porcu E; Mulas A; Piras MG; Lobina M; Lai S; Marongiu M; Serra V; Marongiu M; Sole G; Busonero F; Maschio A; Cusano R; Cuccuru G; Deidda F; Poddie F; Farina G; Dei M; Virdis F; et alii...

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. in Nature genetics / Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25.
2016
AOU Città della Salute di Torino
AOU Novara

Casale F; Leigh PN; Hübner CA; Kurth I; Stubendorff B; Prell T; Ringer T; Witte OW; Grosskreutz J; Kiernan MC; Pamphlett R; Rowe DB; Nicholson GA; Fifita JA; McCann EP; Zhang K; Stuit RJ; Blair I; Muller B; Filosto M; Padovani A; Riva N; Penco S; Lunetta C; Zecca C; Capozzo R; Brunetti M; Arcuti S; Moglia C; et alii...

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis. in JAMA neurology / JAMA Neurol. 2016 Jul 1;73(7):812-20. doi: 10.1001/jamaneurol.2016.1114.
2016
AOU Città della Salute di Torino
AOU Novara

Shaw CE; van den Berg LH; Lewis CM; Hardiman O; Landers JE; Brown RH; Robberecht W; Van Damme P; D'Alfonso S; Traynor BJ; Mazzini L; Ticozzi N; Comi GP; Andersen PM; Leigh PN; Shaw PJ; Morrison KE; Melki J; Meininger V; van Rheenen W; Topp S; Smith BN; Dobson R; Glass JD; Newhouse S; Castellotti B; Cereda C; Del Bo R; Stahl D; et alii...

Power estimation for non-standardized multisite studies. in NeuroImage / Neuroimage. 2016 Jul 1;134:281-294. doi: 10.1016/j.neuroimage.2016.03.051. Epub 2016 Apr 1.
2016
AOU Novara

Keshavan A; Paul F; Beyer MK; Zhu AH; Papinutto N; Shinohara RT; Stern W; Amann M; Bakshi R; Bischof A; Carriero A; Comabella M; Crane JC; D'Alfonso S; Demaerel P; Dubois B; Filippi M; Fleischer V; Fontaine B; Gaetano L; Goris A; Graetz C; Gröger A; Groppa S; Hafler DA; Harbo HF; Hemmer B; Jordan K; Kappos L; et alii...

Analysis of genes, pathways and networks involved in disease severity and age at onset in primary-progressive multiple sclerosis. in Multiple sclerosis (Houndmills, Basingstoke, England) / Mult Scler. 2015 Oct;21(11):1431-42. doi: 10.1177/1352458514564590. Epub 2015 Jan 12.
2015
AOU Novara

Giacalone G; Clarelli F; Osiceanu AM; Guaschino C; Brambilla P; Sorosina M; Liberatore G; Zauli A; Esposito F; Rodegher M; Ghezzi A; Galimberti D; Patti F; Barizzone N; Guerini F; Martinelli V; Leone M; Comi G; D'Alfonso S; Martinelli Boneschi F;

Conversion from clinically isolated syndrome to multiple sclerosis: A large multicentre study. in Multiple sclerosis (Houndmills, Basingstoke, England) / Mult Scler. 2015 Jul;21(8):1013-24. doi: 10.1177/1352458514568827. Epub 2015 Feb 13.
2015
AOU Novara

Kuhle J; Disanto G; Dobson R; Adiutori R; Bianchi L; Topping J; Bestwick JP; Meier UC; Marta M; Dalla Costa G; Runia T; Evdoshenko E; Lazareva N; Thouvenot E; Iaffaldano P; Direnzo V; Khademi M; Piehl F; Comabella M; Sombekke M; Killestein J; Hegen H; Rauch S; D'Alfonso S; Alvarez-Cermeño JC; Kleinová P; Horáková D; Roesler R; Lauda F; et alii...

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study. in Neurobiology of aging / Neurobiol Aging. 2014 Oct;35(10):2420.e13-4. doi: 10.1016/j.neurobiolaging.2014.04.014. Epub 2014 Ap
2014
AOU Città della Salute di Torino
AOU Novara

Hardiman O; Cronin S; Andersen PM; D'Alfonso S; Fogh I; Shatunov A; Robberecht W; van Damme P; Goris A; Ludolph AC; Waibel S; Meyer T; Corti S; Del Bo R; Mazzini L; Groen EJ; Corrado L; van Vught PW; Blauw HM; van Es MA; Saris CG; Lemmens R; Birve A; Traynor BJ; Restagno G; Mora G; Calvo A; Taroni F; Chiò A; et alii...

Multiple sclerosis progression is not associated with birth timing in Italy. in Journal of the neurological sciences / J Neurol Sci. 2014 Nov 15;346(1-2):194-6. doi: 10.1016/j.jns.2014.08.021. Epub 2014 Aug 23.
2014
AOU Novara

Lucenti A; Galimberti S; Barizzone N; Naldi P; Comi G; Martinelli Boneschi F; D'Alfonso S; Leone MA;

Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. in Human molecular genetics / Hum Mol Genet. 2014 Dec 20;23(25):6746-61. doi: 10.1093/hmg/ddu392. Epub 2014 Jul 30.
2014
AOU Novara

Paraboschi EM; Rimoldi V; Soldà G; Tabaglio T; Dall'Osso C; Saba E; Vigliano M; Salviati A; Leone M; Benedetti MD; Fornasari D; Saarela J; De Jager PL; Patsopoulos NA; D'Alfonso S; Gemmati D; Duga S; Asselta R;

Association of genetic markers with CSF oligoclonal bands in multiple sclerosis patients. in PloS one / PLoS One. 2013 Jun 13;8(6):e64408. doi: 10.1371/journal.pone.0064408. Print 2013.
2013
AOU Novara

Leone MA; Barizzone N; Esposito F; Lucenti A; Harbo HF; Goris A; Kockum I; Oturai AB; Celius EG; Mero IL; Dubois B; Olsson T; Søndergaard HB; Cusi D; Lupoli S; Andreassen BK; Myhr KM; Guerini FR; Comi G; Martinelli-Boneschi F; D'Alfonso S;