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127 results

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Page 1
VCP Inhibition Augments NLRP3 Inflammasome Activation.
Sharma A, Dhavale DD, Kotzbauer PT, Weihl CC. Sharma A, et al. Among authors: weihl cc. Inflammation. 2024 Oct;47(5):1868-1883. doi: 10.1007/s10753-024-02013-6. Epub 2024 Apr 2. Inflammation. 2024. PMID: 38563877
Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study.
Alfano LN, James MK, Grosfjeld Petersen K, Rudolf K, Vissing J, Augsburger R, Mozaffar T, Jones A, Butler A, Laubscher KM, Mockler SRH, Mathews KD, Iammarino MA, Reash NF, Pietruszewski L, Lowes LP, Strahler T, Wicklund M, Hunn S, Weihl CC, Sasidharan S, Currence M, Statland JM, Stinson N, Holzer M, Leung DG, Lott DJ, Kang PB, Holsten S, Desai U, Johnson NE; GRASP‐LGMD Consortium. Alfano LN, et al. Among authors: weihl cc. Ann Clin Transl Neurol. 2024 Dec 15. doi: 10.1002/acn3.52276. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 39675022 Free article.
Seeding-competent TDP-43 persists in human patient and mouse muscle.
Lynch EM, Pittman S, Daw J, Ikenaga C, Chen S, Dhavale DD, Jackrel ME, Ayala YM, Kotzbauer P, Ly CV, Pestronk A, Lloyd TE, Weihl CC. Lynch EM, et al. Among authors: weihl cc. Sci Transl Med. 2024 Nov 27;16(775):eadp5730. doi: 10.1126/scitranslmed.adp5730. Epub 2024 Nov 27. Sci Transl Med. 2024. PMID: 39602508
Genotype-phenotype correlation in recessive DNAJB4 myopathy.
Inoue M, Jayaraman D, Bengoechea R, Bhadra A, Genetti CA, Aldeeri AA, Turan B, Pacheco-Orozco RA, Al-Maawali A, Al Hashmi N, Zamani AG, Göktaş E, Pekcan S, Çağlar HT, True H, Beggs AH, Weihl CC. Inoue M, et al. Among authors: weihl cc. Res Sq [Preprint]. 2024 Oct 14:rs.3.rs-4915388. doi: 10.21203/rs.3.rs-4915388/v1. Res Sq. 2024. Update in: Acta Neuropathol Commun. 2024 Oct 28;12(1):171. doi: 10.1186/s40478-024-01878-w PMID: 39483874 Free PMC article. Updated. Preprint.
Genotype‒phenotype correlation in recessive DNAJB4 myopathy.
Inoue M, Jayaraman D, Bengoechea R, Bhadra A, Genetti CA, Aldeeri AA, Turan B, Pacheco-Orozco RA, Al-Maawali A, Al Hashmi N, Zamani AG, Göktaş E, Pekcan S, Çağlar HT, True H, Beggs AH, Weihl CC. Inoue M, et al. Among authors: weihl cc. Acta Neuropathol Commun. 2024 Oct 28;12(1):171. doi: 10.1186/s40478-024-01878-w. Acta Neuropathol Commun. 2024. PMID: 39468638 Free PMC article.
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.
Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Maiga AB, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, Ganesh VS, Kang PB, Kesari A, Lek M, Levy J, Rufibach L, Savarese M, Spencer MJ, Straub V, Tasca G, Weihl CC. Mohan S, et al. Among authors: weihl cc. Ann Clin Transl Neurol. 2024 Sep;11(9):2268-2276. doi: 10.1002/acn3.52127. Epub 2024 Aug 30. Ann Clin Transl Neurol. 2024. PMID: 39215466 Free PMC article.
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.
Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Maiga AB, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, Ganesh VS, Kang PB, Kesari A, Lek M, Levy J, Rufibach L, Savarese M, Spencer MJ, Straub V, Tasca G, Weihl CC. Mohan S, et al. Among authors: weihl cc. bioRxiv [Preprint]. 2024 May 6:2024.05.03.592369. doi: 10.1101/2024.05.03.592369. bioRxiv. 2024. Update in: Ann Clin Transl Neurol. 2024 Sep;11(9):2268-2276. doi: 10.1002/acn3.52127 PMID: 38765987 Free PMC article. Updated. Preprint.
Seeding competent TDP-43 persists in human patient and mouse muscle.
Lynch EM, Pittman S, Daw J, Ikenaga C, Chen S, Dhavale DD, Jackrel ME, Ayala YM, Kotzbauer P, Ly CV, Pestronk A, Lloyd TE, Weihl CC. Lynch EM, et al. Among authors: weihl cc. bioRxiv [Preprint]. 2024 Apr 4:2024.04.03.587918. doi: 10.1101/2024.04.03.587918. bioRxiv. 2024. Update in: Sci Transl Med. 2024 Nov 27;16(775):eadp5730. doi: 10.1126/scitranslmed.adp5730 PMID: 38617354 Free PMC article. Updated. Preprint.
127 results