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306 results

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Page 1
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.
Estrella E, Rockowitz S, Thorne M, Smith P, Petit J, Zehnder V, Yu RN, Bauer S, Berde C, Agrawal PB, Beggs AH, Gharavi AG, Kunkel L, Brownstein CA. Estrella E, et al. Adv Genet (Hoboken). 2022 Nov 27;4(1):2200013. doi: 10.1002/ggn2.202200013. eCollection 2023 Mar. Adv Genet (Hoboken). 2022. PMID: 36910591 Free PMC article.
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: kunkel lm. Muscle Nerve. 2024 Oct;70(4):843-850. doi: 10.1002/mus.28214. Epub 2024 Jul 28. Muscle Nerve. 2024. PMID: 39072769
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D. Nascimento A, et al. Among authors: kunkel lm. Acta Neuropathol. 2023 Apr;145(4):479-496. doi: 10.1007/s00401-023-02551-7. Epub 2023 Feb 17. Acta Neuropathol. 2023. PMID: 36799992 Free PMC article.
Effects of HMG CoA reductase (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, Natera-de Benito D, Draper I, Bruels CC, Pacak CA, Kang PB. Gunasekaran M, et al. Among authors: kunkel lm. FEBS J. 2025 Jan 16. doi: 10.1111/febs.17406. Online ahead of print. FEBS J. 2025. PMID: 39823152
Conditional Dystrophin ablation in the skeletal muscle and brain causes profound effects on muscle function, neurobehavior, and extracellular matrix pathways.
Karuppasamy M, English KG, Conner JR, Rorrer SN, Lopez MA, Crossman DK, Paul JR, Monreal-Gutierrez MA, Gamble KL, Esser KA, Widrick JJ, Kunkel LM, Alexander MS. Karuppasamy M, et al. Among authors: kunkel lm. bioRxiv [Preprint]. 2025 Feb 9:2025.01.30.635777. doi: 10.1101/2025.01.30.635777. bioRxiv. 2025. PMID: 39975305 Free PMC article. Preprint.
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: kunkel lm. bioRxiv [Preprint]. 2024 May 8:2024.05.06.591934. doi: 10.1101/2024.05.06.591934. bioRxiv. 2024. Update in: FEBS J. 2025 Jan 16. doi: 10.1111/febs.17406. PMID: 38903061 Free PMC article. Updated. Preprint.
306 results