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Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.
Badhwar A, Berkovic SF, Dowling JP, Gonzales M, Narayanan S, Brodtmann A, Berzen L, Caviness J, Trenkwalder C, Winkelmann J, Rivest J, Lambert M, Hernandez-Cossio O, Carpenter S, Andermann F, Andermann E. Badhwar A, et al. Among authors: gonzales m. Brain. 2004 Oct;127(Pt 10):2173-82. doi: 10.1093/brain/awh263. Epub 2004 Sep 13. Brain. 2004. PMID: 15364701
Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.
Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzales MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN. Rossor AM, et al. Among authors: gonzales ma. Brain. 2015 Nov;138(Pt 11):e392. doi: 10.1093/brain/awv160. Epub 2015 Jun 10. Brain. 2015. PMID: 26063657 Free PMC article. No abstract available.
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.
Denora PS, Smets K, Zolfanelli F, Ceuterick-de Groote C, Casali C, Deconinck T, Sieben A, Gonzales M, Zuchner S, Darios F, Peeters D, Brice A, Malandrini A, De Jonghe P, Santorelli FM, Stevanin G, Martin JJ, El Hachimi KH. Denora PS, et al. Among authors: gonzales m. Brain. 2016 Jun;139(Pt 6):1723-34. doi: 10.1093/brain/aww061. Epub 2016 Mar 25. Brain. 2016. PMID: 27016404 Free PMC article.
Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy.
Herrmann DN, Horvath R, Sowden JE, Gonzalez M, Sanchez-Mejias A, Guan Z, Whittaker RG, Almodovar JL, Lane M, Bansagi B, Pyle A, Boczonadi V, Lochmüller H, Griffin H, Chinnery PF, Lloyd TE, Littleton JT, Zuchner S. Herrmann DN, et al. Am J Hum Genet. 2014 Sep 4;95(3):332-9. doi: 10.1016/j.ajhg.2014.08.007. Am J Hum Genet. 2014. PMID: 25192047 Free PMC article.
Impaired Kidney Function, Cerebral Small Vessel Disease and Cognitive Disorders: The Framingham Heart Study.
Kelly DM, Pinheiro AA, Koini M, Anderson CD, Aparicio H, Hofer E, Kern D, Blacker D, DeCarli C, Hwang SJ, Viswanathan A, Gonzales MM, Beiser AS, Seshadri S, Schmidt R, Demissie S, Romero JR. Kelly DM, et al. Among authors: gonzales mm. Nephrol Dial Transplant. 2024 Apr 2:gfae079. doi: 10.1093/ndt/gfae079. Online ahead of print. Nephrol Dial Transplant. 2024. PMID: 38565317
Disentangling and quantifying the relative cognitive impact of concurrent mixed neurodegenerative pathologies.
Maldonado-Díaz C, Hiya S, Yokoda RT, Farrell K, Marx GA, Kauffman J, Daoud EV, Gonzales MM, Parker AS, Canbeldek L, Kulumani Mahadevan LS, Crary JF, White CL 3rd, Walker JM, Richardson TE. Maldonado-Díaz C, et al. Among authors: gonzales mm. Acta Neuropathol. 2024 Mar 23;147(1):58. doi: 10.1007/s00401-024-02716-y. Acta Neuropathol. 2024. PMID: 38520489 Free PMC article.
Evaluation of Exploratory Fluid Biomarker Results from a Phase 1 Senolytic Trial in Mild Alzheimer's Disease.
Garbarino VR, Palavicini JP, Melendez J, Barthelemy N, He Y, Kautz TF, Lopez-Cruzan M, Mathews JJ, Xu P, Zhan B, Saliba A, Ragi N, Sharma K, Craft S, Petersen RC, Espindola-Netto JM, Xue A, Tchkonia T, Kirkland JL, Seshadri S, Salardini A, Musi N, Bateman RJ, Gonzales MM, Orr ME. Garbarino VR, et al. Among authors: gonzales mm. Res Sq [Preprint]. 2024 Mar 8:rs.3.rs-3994894. doi: 10.21203/rs.3.rs-3994894/v1. Res Sq. 2024. PMID: 38496619 Free PMC article. Preprint.
780 results