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Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).
Gavazzi F, Pierce SR, Vithayathil J, Cunningham K, Anderson K, McCann J, Moll A, Muirhead K, Sherbini O, Prange E, Dubbs H, Tochen L, Fraser J, Helbig I, Lewin N, Thakur N, Adang LA. Gavazzi F, et al. Among authors: muirhead k. Mol Genet Metab. 2022 Sep-Oct;137(1-2):26-32. doi: 10.1016/j.ymgme.2022.07.009. Epub 2022 Jul 20. Mol Genet Metab. 2022. PMID: 35878504 Free PMC article.
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome.
Muirhead KJ, Clause AR, Schlachetzki Z, Dubbs H, Perry DL, Hagelstrom RT, Taft RJ, Vanderver A. Muirhead KJ, et al. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006143. doi: 10.1101/mcs.a006143. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34737199 Free PMC article.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Calame DG, Herman I, Maroofian R, Marshall AE, Donis KC, Fatih JM, Mitani T, Du H, Grochowski CM, Sousa SB, Gijavanekar C, Bakhtiari S, Ito YA, Rocca C, Hunter JV, Sutton VR, Emrick LT, Boycott KM, Lossos A, Fellig Y, Prus E, Kalish Y, Meiner V, Suerink M, Ruivenkamp C, Muirhead K, Saadi NW, Zaki MS, Bouman A, Barakat TS, Skidmore DL, Osmond M, Silva TO, Murphy D, Karimiani EG, Jamshidi Y, Jaddoa AG, Tajsharghi H, Jin SC, Abbaszadegan MR, Ebrahimzadeh-Vesal R, Hosseini S, Alavi S, Bahreini A, Zarean E, Salehi MM, Al-Sannaa NA, Zifarelli G, Bauer P, Robson SC, Coban-Akdemir Z, Travaglini L, Nicita F, Jhangiani SN, Gibbs RA, Posey JE, Kruer MC, Kernohan KD, Morales Saute JA, Houlden H, Vanderver A, Elsea SH, Pehlivan D, Marafi D, Lupski JR. Calame DG, et al. Among authors: muirhead k. Ann Neurol. 2022 Aug;92(2):304-321. doi: 10.1002/ana.26381. Epub 2022 May 28. Ann Neurol. 2022. PMID: 35471564 Free PMC article.
Probing cell proliferation: Considerations for dye selection.
Soh KT, Tario JD Jr, Muirhead KA, Wallace PK. Soh KT, et al. Among authors: muirhead ka. Methods Cell Biol. 2024;186:1-24. doi: 10.1016/bs.mcb.2024.02.012. Epub 2024 Apr 4. Methods Cell Biol. 2024. PMID: 38705595
79 results