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The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Opie-Martin S, Iacoangeli A, Topp SD, Abel O, Mayl K, Mehta PR, Shatunov A, Fogh I, Bowles H, Limbachiya N, Spargo TP, Al-Khleifat A, Williams KL, Jockel-Balsarotti J, Bali T, Self W, Henden L, Nicholson GA, Ticozzi N, McKenna-Yasek D, Tang L, Shaw PJ, Chio A, Ludolph A, Weishaupt JH, Landers JE, Glass JD, Mora JS, Robberecht W, Damme PV, McLaughlin R, Hardiman O, van den Berg L, Veldink JH, Corcia P, Stevic Z, Siddique N, Silani V, Blair IP, Fan DS, Esselin F, de la Cruz E, Camu W, Basak NA, Siddique T, Miller T, Brown RH, Al-Chalabi A, Shaw CE. Opie-Martin S, et al. Among authors: chio a. Nat Commun. 2022 Nov 12;13(1):6901. doi: 10.1038/s41467-022-34620-y. Nat Commun. 2022. PMID: 36371497 Free PMC article.
Lithium carbonate in amyotrophic lateral sclerosis patients homozygous for the C-allele at SNP rs12608932 in UNC13A: protocol for a confirmatory, randomized, group-sequential, event-driven, double-blind, placebo-controlled trial.
Willemse SW, Roes KCB, Van Damme P, Hardiman O, Ingre C, Povedano M, Wray NR, Gijzen M, de Pagter MS, Demaegd KC, Janse AFC, Vink RG, Sleutjes BTHM, Chiò A, Corcia P, Reviers E, Al-Chalabi A, Kiernan MC, van den Berg LH, van Es MA, van Eijk RPA. Willemse SW, et al. Among authors: chio a. Trials. 2022 Dec 5;23(1):978. doi: 10.1186/s13063-022-06906-5. Trials. 2022. PMID: 36471413 Free PMC article.
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias.
Kaivola K, Chia R, Ding J, Rasheed M, Fujita M, Menon V, Walton RL, Collins RL, Billingsley K, Brand H, Talkowski M, Zhao X, Dewan R, Stark A, Ray A, Solaiman S, Alvarez Jerez P, Malik L, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Masellis M, Keith J, Black SE, Ferrucci L, Resnick SM, Tanaka T; American Genome Center; International LBD Genomics Consortium; International ALS/FTD Consortium; PROSPECT Consortium; Topol E, Torkamani A, Tienari P, Foroud TM, Ghetti B, Landers JE, Ryten M, Morris HR, Hardy JA, Mazzini L, D'Alfonso S, Moglia C, Calvo A, Serrano GE, Beach TG, Ferman T, Graff-Radford NR, Boeve BF, Wszolek ZK, Dickson DW, Chiò A, Bennett DA, De Jager PL, Ross OA, Dalgard CL, Gibbs JR, Traynor BJ, Scholz SW. Kaivola K, et al. Among authors: chio a. Cell Genom. 2023 May 4;3(6):100316. doi: 10.1016/j.xgen.2023.100316. eCollection 2023 Jun 14. Cell Genom. 2023. PMID: 37388914 Free PMC article.
Percutaneous gastrostomy, mechanical ventilation and survival in amyotrophic lateral sclerosis : an observational study in an incident cohort.
Borghero G, Pierri V, Pili F, Muroni A, Ercoli T, Pateri MI, Pilotto S, Maccabeo A, Chiò A, Defazio G. Borghero G, et al. Among authors: chio a. Amyotroph Lateral Scler Frontotemporal Degener. 2024 May 15:1-7. doi: 10.1080/21678421.2024.2351185. Online ahead of print. Amyotroph Lateral Scler Frontotemporal Degener. 2024. PMID: 38747354
Use of the combination of spirometry, arterial blood gas analysis and overnight oximetry to predict the outcomes of patients affected by motor neuron disease: The Milan-Torin respiratory score (Mi-To-RS).
Schito P, Manera U, Russo T, Cremona G, Riboldi E, Tettamanti A, Agosta F, Quattrini A, Chiò A, Filippi M, Calvo A, Riva N. Schito P, et al. Among authors: chio a. Eur J Neurol. 2024 May 8:e16316. doi: 10.1111/ene.16316. Online ahead of print. Eur J Neurol. 2024. PMID: 38716751
Genome sequence analyses identify novel risk loci for multiple system atrophy.
Chia R, Ray A, Shah Z, Ding J, Ruffo P, Fujita M, Menon V, Saez-Atienzar S, Reho P, Kaivola K, Walton RL, Reynolds RH, Karra R, Sait S, Akcimen F, Diez-Fairen M, Alvarez I, Fanciulli A, Stefanova N, Seppi K, Duerr S, Leys F, Krismer F, Sidoroff V, Zimprich A, Pirker W, Rascol O, Foubert-Samier A, Meissner WG, Tison F, Pavy-Le Traon A, Pellecchia MT, Barone P, Russillo MC, Marín-Lahoz J, Kulisevsky J, Torres S, Mir P, Periñán MT, Proukakis C, Chelban V, Wu L, Goh YY, Parkkinen L, Hu MT, Kobylecki C, Saxon JA, Rollinson S, Garland E, Biaggioni I, Litvan I, Rubio I, Alcalay RN, Kwei KT, Lubbe SJ, Mao Q, Flanagan ME, Castellani RJ, Khurana V, Ndayisaba A, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Moore A, Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Kim C, Iba M, Masliah E, Dawson TM, Rosenthal LS, Pantelyat A, Albert MS, Pletnikova O, Troncoso JC, Infante J, Lage C, Sánchez-Juan P, Serrano GE, Beach TG, Pastor P, Morris HR, Albani D, Clarimon J, Wenning GK, Hardy JA, Ryten M, Topol E, Torkamani A, Chiò A, Bennett DA, De Jager PL, Low PA, Singer W, Cheshire WP, Wszolek ZK, Dickson DW, Traynor BJ, Gibbs JR, Dalgard CL, Ross OA, Houlden H, Scholz SW. Chia R, et al. Among authors: chio a. Neuron. 2024 Apr 24:S0896-6273(24)00240-X. doi: 10.1016/j.neuron.2024.04.002. Online ahead of print. Neuron. 2024. PMID: 38701790 Free article.
Sex Differences in Amyotrophic Lateral Sclerosis Survival and Progression: A Multidimensional Analysis.
Grassano M, Moglia C, Palumbo F, Koumantakis E, Cugnasco P, Callegaro S, Canosa A, Manera U, Vasta R, De Mattei F, Matteoni E, Fuda G, Salamone P, Marchese G, Casale F, De Marchi F, Mazzini L, Mora G, Calvo A, Chiò A. Grassano M, et al. Among authors: chio a. Ann Neurol. 2024 Apr 3. doi: 10.1002/ana.26933. Online ahead of print. Ann Neurol. 2024. PMID: 38568048
High Frequency of Cognitive and Behavioral Impairment in Amyotrophic Lateral Sclerosis Patients with SOD1 Pathogenic Variants.
Calvo A, Moglia C, Canosa A, Manera U, Vasta R, Grassano M, Daviddi M, De Mattei F, Matteoni E, Gallone S, Brunetti M, Sbaiz L, Cabras S, Peotta L, Palumbo F, Iazzolino B, Mora G, Chiò A. Calvo A, et al. Among authors: chio a. Ann Neurol. 2024 Apr 3. doi: 10.1002/ana.26928. Online ahead of print. Ann Neurol. 2024. PMID: 38568044
515 results