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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: robberecht w. Nat Commun. 2022 Nov 12;13(1):6901. doi: 10.1038/s41467-022-34620-y. Nat Commun. 2022. PMID: 36371497 Free PMC article.
Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor.
Al-Chalabi A, Andersen PM, Chioza B, Shaw C, Sham PC, Robberecht W, Matthijs G, Camu W, Marklund SL, Forsgren L, Rouleau G, Laing NG, Hurse PV, Siddique T, Leigh PN, Powell JF. Al-Chalabi A, et al. Among authors: robberecht w. Hum Mol Genet. 1998 Dec;7(13):2045-50. doi: 10.1093/hmg/7.13.2045. Hum Mol Genet. 1998. PMID: 9817920
Amyotrophic lateral sclerosis: pathogenesis.
Brown RH Jr, Robberecht W. Brown RH Jr, et al. Among authors: robberecht w. Semin Neurol. 2001 Jun;21(2):131-9. doi: 10.1055/s-2001-15260. Semin Neurol. 2001. PMID: 11442322 Review.
Genetic markers of ALS.
Robberecht W. Robberecht W. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000 Jun;1 Suppl 2:S57-9. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000. PMID: 11464943 Review.
286 results