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Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Fridman V, Sillau S, Bockhorst J, Smith K, Moroni I, Pagliano E, Pisciotta C, Piscosquito G, Laurá M, Muntoni F, Bacon C, Feely S, Grider T, Gutmann L, Shy R, Wilcox J, Herrmann DN, Li J, Ramchandren S, Sumner CJ, Lloyd TE, Day J, Siskind CE, Yum SW, Sadjadi R, Finkel RS, Scherer SS, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium-Rare Diseases Clinical Research Network. Fridman V, et al. Among authors: finkel rs. Ann Neurol. 2023 Mar;93(3):563-576. doi: 10.1002/ana.26518. Epub 2022 Oct 28. Ann Neurol. 2023. PMID: 36203352 Free PMC article.
Quality of life in children with CMT type 1A.
Ramchandren S, Shy ME, Finkel RS. Ramchandren S, et al. Among authors: finkel rs. Lancet Neurol. 2009 Oct;8(10):880-1; author reply 881. doi: 10.1016/S1474-4422(09)70247-9. Lancet Neurol. 2009. PMID: 19747650 No abstract available.
Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease.
Burns J, Ouvrier R, Estilow T, Shy R, Laurá M, Eichinger K, Muntoni F, Reilly MM, Pareyson D, Acsadi G, Shy ME, Finkel RS. Burns J, et al. Among authors: finkel rs. Clin Biomech (Bristol, Avon). 2012 Aug;27(7):744-7. doi: 10.1016/j.clinbiomech.2012.02.006. Epub 2012 Mar 16. Clin Biomech (Bristol, Avon). 2012. PMID: 22424781 Free PMC article.
Prospective cohort study of spinal muscular atrophy types 2 and 3.
Kaufmann P, McDermott MP, Darras BT, Finkel RS, Sproule DM, Kang PB, Oskoui M, Constantinescu A, Gooch CL, Foley AR, Yang ML, Tawil R, Chung WK, Martens WB, Montes J, Battista V, O'Hagen J, Dunaway S, Flickinger J, Quigley J, Riley S, Glanzman AM, Benton M, Ryan PA, Punyanitya M, Montgomery MJ, Marra J, Koo B, De Vivo DC; Muscle Study Group (MSG); Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR). Kaufmann P, et al. Among authors: finkel rs. Neurology. 2012 Oct 30;79(18):1889-97. doi: 10.1212/WNL.0b013e318271f7e4. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077013 Free PMC article.
Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease.
Burns J, Menezes M, Finkel RS, Estilow T, Moroni I, Pagliano E, Laurá M, Muntoni F, Herrmann DN, Eichinger K, Shy R, Pareyson D, Reilly MM, Shy ME. Burns J, et al. Among authors: finkel rs. J Peripher Nerv Syst. 2013 Jun;18(2):177-80. doi: 10.1111/jns5.12024. J Peripher Nerv Syst. 2013. PMID: 23781965 Free PMC article.
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.
Fridman V, Bundy B, Reilly MM, Pareyson D, Bacon C, Burns J, Day J, Feely S, Finkel RS, Grider T, Kirk CA, Herrmann DN, Laurá M, Li J, Lloyd T, Sumner CJ, Muntoni F, Piscosquito G, Ramchandren S, Shy R, Siskind CE, Yum SW, Moroni I, Pagliano E, Zuchner S, Scherer SS, Shy ME; Inherited Neuropathies Consortium. Fridman V, et al. Among authors: finkel rs. J Neurol Neurosurg Psychiatry. 2015 Aug;86(8):873-8. doi: 10.1136/jnnp-2014-308826. Epub 2014 Nov 27. J Neurol Neurosurg Psychiatry. 2015. PMID: 25430934 Free PMC article.
Spectrum of neuropathophysiology in spinal muscular atrophy type I.
Harding BN, Kariya S, Monani UR, Chung WK, Benton M, Yum SW, Tennekoon G, Finkel RS. Harding BN, et al. Among authors: finkel rs. J Neuropathol Exp Neurol. 2015 Jan;74(1):15-24. doi: 10.1097/NEN.0000000000000144. J Neuropathol Exp Neurol. 2015. PMID: 25470343 Free PMC article.
259 results