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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 1 |
2021 | 1 |
2022 | 1 |
2023 | 2 |
2024 | 2 |
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6 results
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Page 1
DUX4 Signalling in the Pathogenesis of Facioscapulohumeral Muscular Dystrophy.
Int J Mol Sci. 2020 Jan 22;21(3):729. doi: 10.3390/ijms21030729.
Int J Mol Sci. 2020.
PMID: 31979100
Free PMC article.
Review.
Sustained clinical benefit following systemic gene replacement therapy in Duchenne muscular dystrophy.
McMillan HJ, Lochmüller H.
McMillan HJ, et al.
Muscle Nerve. 2024 Jan;69(1):4-6. doi: 10.1002/mus.28000. Epub 2023 Nov 16.
Muscle Nerve. 2024.
PMID: 37969074
No abstract available.
Item in Clipboard
The J Domain of Sacsin Disrupts Intermediate Filament Assembly.
Dabbaghizadeh A, Paré A, Cheng-Boivin Z, Dagher R, Minotti S, Dicaire MJ, Brais B, Young JC, Durham HD, Gentil BJ.
Dabbaghizadeh A, et al.
Int J Mol Sci. 2022 Dec 12;23(24):15742. doi: 10.3390/ijms232415742.
Int J Mol Sci. 2022.
PMID: 36555380
Free PMC article.
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Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada.
Lamont R, King M, King A, Schellenberg K, Pfeffer G.
Lamont R, et al.
Brain. 2024 May 3;147(5):e43-e44. doi: 10.1093/brain/awae052.
Brain. 2024.
PMID: 38366260
Free PMC article.
No abstract available.
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Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project.
Niri F, Nicholls J, Baptista Wyatt K, Walker C, Price T, Kelln R, Hume S, Parboosingh J, Lilley M, Kolski H, Ridsdale R, Muranyi A, Mah JK, Bulman DE.
Niri F, et al.
Int J Neonatal Screen. 2023 Jul 27;9(3):42. doi: 10.3390/ijns9030042.
Int J Neonatal Screen. 2023.
PMID: 37606479
Free PMC article.
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Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders.
Lochmüller H, Ramirez AN, Kakkis E.
Lochmüller H, et al.
Orphanet J Rare Dis. 2021 Mar 20;16(1):141. doi: 10.1186/s13023-021-01687-7.
Orphanet J Rare Dis. 2021.
PMID: 33743771
Free PMC article.
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