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Hereditary diffuse leucoencephalopathy with spheroids.
Hancock N, Poon M, Taylor B, McLean C. Hancock N, et al. J Neurol Neurosurg Psychiatry. 2003 Sep;74(9):1345-7. doi: 10.1136/jnnp.74.9.1345. J Neurol Neurosurg Psychiatry. 2003. PMID: 12933955 Free PMC article.
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Donkervoort S, van de Locht M, Ronchi D, Reunert J, McLean CA, Zaki M, Orbach R, de Winter JM, Conijn S, Hoomoedt D, Neto OLA, Magri F, Viaene AN, Foley AR, Gorokhova S, Bolduc V, Hu Y, Acquaye N, Napoli L, Park JH, Immadisetty K, Miles LB, Essawi M, McModie S, Ferreira LF, Zanotti S, Neuhaus SB, Medne L, ElBagoury N, Johnson KR, Zhang Y, Laing NG, Davis MR, Bryson-Richardson RJ, Hwee DT, Hartman JJ, Malik FI, Kekenes-Huskey PM, Comi GP, Sharaf-Eldin W, Marquardt T, Ravenscroft G, Bönnemann CG, Ottenheijm CAC. Donkervoort S, et al. Among authors: mclean ca. Sci Transl Med. 2024 Apr 3;16(741):eadg2841. doi: 10.1126/scitranslmed.adg2841. Epub 2024 Apr 3. Sci Transl Med. 2024. PMID: 38569017
Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies.
Coleman M, Pinares-Garcia P, Stephenson SE, Lee WS, Kooshavar D, Mclean CA, Howell KB, Leventer RJ, Reid CA, Lockhart PJ. Coleman M, et al. Among authors: mclean ca. Neurol Genet. 2024 Mar 11;10(2):e200135. doi: 10.1212/NXG.0000000000200135. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38496361 Free PMC article.
Microglial ferroptotic stress causes non-cell autonomous neuronal death.
Liddell JR, Hilton JBW, Kysenius K, Billings JL, Nikseresht S, McInnes LE, Hare DJ, Paul B, Mercer SW, Belaidi AA, Ayton S, Roberts BR, Beckman JS, McLean CA, White AR, Donnelly PS, Bush AI, Crouch PJ. Liddell JR, et al. Among authors: mclean ca. Mol Neurodegener. 2024 Feb 5;19(1):14. doi: 10.1186/s13024-023-00691-8. Mol Neurodegener. 2024. PMID: 38317225 Free PMC article.
295 results