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Year | Number of Results |
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2013 | 1 |
2015 | 2 |
2025 | 0 |
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Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
J Neurol. 2015 Sep;262(9):2124-34. doi: 10.1007/s00415-015-7727-2. Epub 2015 Jun 24.
J Neurol. 2015.
PMID: 26100331
Free PMC article.
Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation.
Luo S, Zhu W, Yue D, Lin J, Wang Y, Zhu Z, Qiu W, Lu J, Hedberg-Oldfors C, Oldfors A, Zhao C.
Luo S, et al.
Neuromuscul Disord. 2015 Oct;25(10):780-5. doi: 10.1016/j.nmd.2015.07.007. Epub 2015 Jul 15.
Neuromuscul Disord. 2015.
PMID: 26255073
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Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
Yang AC, Ng BG, Moore SA, Rush J, Waechter CJ, Raymond KM, Willer T, Campbell KP, Freeze HH, Mehta L.
Yang AC, et al.
Mol Genet Metab. 2013 Nov;110(3):345-351. doi: 10.1016/j.ymgme.2013.06.016. Epub 2013 Jun 28.
Mol Genet Metab. 2013.
PMID: 23856421
Free PMC article.
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