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Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 years.
Wu TT, Finkel RS, Siskind CE, Feely SME, Burns J, Reilly MM, Muntoni F, Milev E, Estilow T, Shy ME, Ramchandren S; Childhood CMT Study Group of the Inherited Neuropathy Consortium. Wu TT, et al. Among authors: reilly mm. J Peripher Nerv Syst. 2023 Sep;28(3):382-389. doi: 10.1111/jns.12557. Epub 2023 May 18. J Peripher Nerv Syst. 2023. PMID: 37166413
Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant.
Henning F, Naidu K, Record CJ, Dominik N, Vandrovcova J, Lubbe F, Dercksen M; ICGNMD Consortium; Wilson LA, Van Der Westhuizen F, Reilly MM, Houlden H, Hanna MG, Carr J. Henning F, et al. Among authors: reilly mm. Mov Disord Clin Pract. 2024 Oct;11(10):1298-1300. doi: 10.1002/mdc3.14178. Epub 2024 Aug 2. Mov Disord Clin Pract. 2024. PMID: 39092477 Free PMC article. No abstract available.
TTR associated leptomeningeal amyloidosis in a Sri Lankan patient.
Muthukumarasamy M, Vijayabala J, Tharmalingam T, Ceravolo G, Zhelcheska K, Houlden H, Davagnanam I, Reilly MM, Lynch DS. Muthukumarasamy M, et al. Among authors: reilly mm. J Neurol Sci. 2024 Nov 15;466:123273. doi: 10.1016/j.jns.2024.123273. Epub 2024 Oct 15. J Neurol Sci. 2024. PMID: 39423596 Free article.
Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal disease.
Green CR, Bonelli R, Ansell BRE, Tzaridis S, Handzlik MK, McGregor GH, Hart B, Trombley J, Reilly MM, Bernstein PS, Egan C, Fruttiger M, Wallace M, Bahlo M, Friedlander M, Metallo CM, Gantner ML. Green CR, et al. Among authors: reilly mm. Mol Metab. 2023 Jun;72:101716. doi: 10.1016/j.molmet.2023.101716. Epub 2023 Mar 28. Mol Metab. 2023. PMID: 36997154 Free PMC article.
Cardiovascular autonomic failure in hereditary transthyretin amyloidosis and TTR carriers is an early and progressive disease marker.
Chiaro G, Stancanelli C, Koay S, Vichayanrat E, Sander L, Ingle GT, McNamara P, Carr AS, Wechalekar AD, Whelan CJ, Gillmore JD, Hawkins PN, Reilly MM, Mathias CJ, Iodice V. Chiaro G, et al. Among authors: reilly mm. Clin Auton Res. 2024 Jun;34(3):341-352. doi: 10.1007/s10286-024-01038-z. Epub 2024 May 20. Clin Auton Res. 2024. PMID: 38769233
419 results