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73 results

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Page 1
Functional Outcome Measures to Optimize Drug Development in Spinal and Bulbar Muscular Atrophy: Results From a Meta-Analysis of the Global SBMA Dataset.
Huggett SB, Tebbenkamp ATN, Rinaldi C, Jayaseelan D, Zampedri L, Blasi L, Fortuna A, Alqahtani A, Kokkinis A, Dahlqvist J, Fenu S, Cavalca E, Bertini A, Mariotti C, Grunseich C, Kawase T, Kishimoto Y, Yamada S, Katsuno M, Fratta P, Conte A, Sabatelli M, Soraru G, Vissing J, Kang M, Park JS, Pareyson D, Viglietta V. Huggett SB, et al. Among authors: grunseich c. Neurology. 2024 Dec 24;103(12):e210088. doi: 10.1212/WNL.0000000000210088. Epub 2024 Nov 26. Neurology. 2024. PMID: 39591556
The enhancer RNA, AANCR, regulates APOE expression in astrocytes and microglia.
Wan M, Liu Y, Li D, Snyder RJ, Elkin LB, Day CR, Rodriguez J, Grunseich C, Mahley RW, Watts JA, Cheung VG. Wan M, et al. Among authors: grunseich c. Nucleic Acids Res. 2024 Sep 23;52(17):10235-10254. doi: 10.1093/nar/gkae696. Nucleic Acids Res. 2024. PMID: 39162226 Free PMC article.
Patient-Reported Impact of Symptoms in Spinal and Bulbar Muscular Atrophy.
Alqahtani A, Kokkinis A, Zizzi C, Dilek N, Fischbeck KH, Heatwole CR, Grunseich C. Alqahtani A, et al. Among authors: grunseich c. Neurol Clin Pract. 2023 Dec;13(6):e200213. doi: 10.1212/CPJ.0000000000200213. Epub 2023 Oct 31. Neurol Clin Pract. 2023. PMID: 39140081 Free PMC article.
Protein biomarker signature in patients with spinal and bulbar muscular atrophy.
Tebbenkamp AT, Huggett SB, Lombardi V, Zampedri L, AlQahtani A, Kokkinis A, Malaspina A, Rinaldi C, Grunseich C, Fratta P, Viglietta V. Tebbenkamp AT, et al. Among authors: grunseich c. JCI Insight. 2024 May 30;9(13):e176383. doi: 10.1172/jci.insight.176383. JCI Insight. 2024. PMID: 38973610 Free PMC article.
CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes.
Maio N, Orbach R, Zaharieva IT, Töpf A, Donkervoort S, Munot P, Mueller J, Willis T, Verma S, Peric S, Krishnakumar D, Sudhakar S, Foley AR, Silverstein S, Douglas G, Pais L, DiTroia S, Grunseich C, Hu Y, Sewry C, Sarkozy A, Straub V, Muntoni F, Rouault TA, Bönnemann CG. Maio N, et al. Among authors: grunseich c. J Clin Invest. 2024 Jun 17;134(12):e179559. doi: 10.1172/JCI179559. J Clin Invest. 2024. PMID: 38950322 Free PMC article.
AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.
Diarra S, Ghosh S, Cissé L, Coulibaly T, Yalcouyé A, Harmison G, Diallo S, Diallo SH, Coulibaly O, Schindler A, Cissé CAK, Maiga AB, Bamba S, Samassekou O, Khokha MK, Mis EK, Lakhani SA, Donovan FX, Jacobson S, Blackstone C, Guinto CO, Landouré G, Bonifacino JS, Fischbeck KH, Grunseich C. Diarra S, et al. Among authors: grunseich c. Neurobiol Dis. 2024 Aug;198:106537. doi: 10.1016/j.nbd.2024.106537. Epub 2024 May 19. Neurobiol Dis. 2024. PMID: 38772452 Free article.
Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial.
Todd JJ, Lawal TA, Chrismer IC, Kokkinis A, Grunseich C, Jain MS, Waite MR, Biancavilla V, Pocock S, Brooks K, Mendoza CJ, Norato G, Cheung K, Riekhof W, Varma P, Colina-Prisco C, Emile-Backer M, Meilleur KG, Marks AR, Webb Y, Marcantonio EE, Foley AR, Bönnemann CG, Mohassel P. Todd JJ, et al. Among authors: grunseich c. EClinicalMedicine. 2024 Jan 25;68:102433. doi: 10.1016/j.eclinm.2024.102433. eCollection 2024 Feb. EClinicalMedicine. 2024. PMID: 38318125 Free PMC article.
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes.
Maio N, Orbach R, Zaharieva I, Töpf A, Donkervoort S, Munot P, Mueller J, Willis T, Verma S, Peric S, Krishnakumar D, Sudhakar S, Foley AR, Silverstein S, Douglas G, Pais L, DiTroia S, Grunseich C, Hu Y, Sewry C, Sarkozy A, Straub V, Muntoni F, Rouault T, Bönnemann CG. Maio N, et al. Among authors: grunseich c. medRxiv [Preprint]. 2023 Dec 20:2023.12.20.23300170. doi: 10.1101/2023.12.20.23300170. medRxiv. 2023. Update in: J Clin Invest. 2024 Jun 17;134(12):e179559. doi: 10.1172/JCI179559 PMID: 38196629 Free PMC article. Updated. Preprint.
73 results