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Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.
Turner J, Bruels CC, Daugherty AL, Estrella EA, Stafki S, Syeda SB, Littel HR, Pais L, Ganesh VS, Lidov HGW, Paine SML, Maddison P, Harrison RE, Straub V, Ghosh PS, Pacak CA, Kunkel LM, Draper I, Topf A, Kang PB. Turner J, et al. Among authors: pacak ca. Muscle Nerve. 2024 Oct;70(4):843-850. doi: 10.1002/mus.28214. Epub 2024 Jul 28. Muscle Nerve. 2024. PMID: 39072769
Effects of HMGCR deficiency on skeletal muscle development.
Gunasekaran M, Littel HR, Wells NM, Turner J, Campos G, Venigalla S, Estrella EA, Ghosh PS, Daugherty AL, Stafki SA, Kunkel LM, Foley AR, Donkervoort S, Bönnemann CG, Toledo-Bravo de Laguna L, Nascimento A, Benito DN, Draper I, Bruels CC, Pacak CA, Kang PB. Gunasekaran M, et al. Among authors: pacak ca. bioRxiv [Preprint]. 2024 May 8:2024.05.06.591934. doi: 10.1101/2024.05.06.591934. bioRxiv. 2024. PMID: 38903061 Free PMC article. Preprint.
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome.
Rajamani G, Stafki SA, Daugherty AL, Mantyh WG, Littel HR, Bruels CC, Pacak CA, Robbins PD, Niedernhofer LJ, Abiona A, Giunti P, Mohammed S, Laugel V, Kang PB. Rajamani G, et al. Among authors: pacak ca. Neurol Clin Pract. 2024 Aug;14(4):e200309. doi: 10.1212/CPJ.0000000000200309. Epub 2024 May 16. Neurol Clin Pract. 2024. PMID: 38808024
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Stafki SA, Turner J, Littel HR, Bruels CC, Truong D, Knirsch U, Stettner GM, Graf U, Berger W, Kinali M, Jungbluth H, Pacak CA, Hughes J, Mirchi A, Derksen A, Vincent-Delorme C, Theil AF, Bernard G, Ellis D, Fassihi H, Lehmann AR, Laugel V, Mohammed S, Kang PB. Stafki SA, et al. Among authors: pacak ca. Pediatr Neurol. 2023 Apr;141:79-86. doi: 10.1016/j.pediatrneurol.2023.01.011. Epub 2023 Jan 24. Pediatr Neurol. 2023. PMID: 36791574 Free PMC article.
Peripheral neuropathies associated with DNA repair disorders.
Maguina M, Kang PB, Tsai AC, Pacak CA. Maguina M, et al. Among authors: pacak ca. Muscle Nerve. 2023 Feb;67(2):101-110. doi: 10.1002/mus.27721. Epub 2022 Oct 3. Muscle Nerve. 2023. PMID: 36190439 Free PMC article. Review.
67 results