Results
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161.
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An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy. [electronic resource] by
- Jokela, Manu
- Tasca, Giorgio
- Vihola, Anna
- Mercuri, Eugenio
- Jonson, Per-Harald
- Lehtinen, Sara
- Välipakka, Salla
- Pane, Marika
- Donati, Maria
- Johari, Mridul
- Savarese, Marco
- Huovinen, Sanna
- Isohanni, Pirjo
- Palmio, Johanna
- Hartikainen, Päivi
- Udd, Bjarne
Producer: 20191210
In:
Neurology vol. 92
Availability: No items available.
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163.
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Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype. [electronic resource] by
- Benyamini, Hadar
- Kling, Yehuda
- Yakovlev, Lena
- Becker Cohen, Michal
- Nevo, Yuval
- Elgavish, Sharona
- Harazi, Avi
- Argov, Zohar
- Sela, Ilan
- Mitrani-Rosenbaum, Stella
Producer: 20201116
In:
Journal of neuromuscular diseases vol. 7
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Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). [electronic resource] by
- Meredith, Christopher
- Herrmann, Ralf
- Parry, Cheryl
- Liyanage, Khema
- Dye, Danielle E
- Durling, Hayley J
- Duff, Rachael M
- Beckman, Kaye
- de Visser, Marianne
- van der Graaff, Maaike M
- Hedera, Peter
- Fink, John K
- Petty, Elizabeth M
- Lamont, Phillipa
- Fabian, Vicki
- Bridges, Leslie
- Voit, Thomas
- Mastaglia, Frank L
- Laing, Nigel G
Producer: 20041216
In:
American journal of human genetics vol. 75
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Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy. [electronic resource] by
- Wu, Yuan
- Yuan, Lamei
- Guo, Yi
- Lu, Anjie
- Zheng, Wen
- Xu, Hongbo
- Yang, Yan
- Hu, Pengzhi
- Gu, Shaojuan
- Wang, Bingqi
- Deng, Hao
Producer: 20191209
In:
Journal of cellular and molecular medicine vol. 22
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177.
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Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency. [electronic resource] by
- Guergueltcheva, V
- Peeters, K
- Baets, J
- Ceuterick-de Groote, C
- Martin, J J
- Suls, A
- De Vriendt, E
- Mihaylova, V
- Chamova, T
- Almeida-Souza, L
- Ydens, E
- Tzekov, C
- Hadjidekov, G
- Gospodinova, M
- Storm, K
- Reyniers, E
- Bichev, S
- van der Ven, P F M
- Fürst, D O
- Mitev, V
- Lochmüller, H
- Timmerman, V
- Tournev, I
- De Jonghe, P
- Jordanova, A
Producer: 20120209
In:
Neurology vol. 77
Availability: No items available.
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179.
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Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK. [electronic resource] by
- Figueroa-Bonaparte, S
- Hudson, J
- Barresi, R
- Polvikoski, T
- Williams, T
- Töpf, A
- Harris, E
- Hilton-Jones, D
- Petty, R
- Willis, T A
- Longman, C
- Dougan, C F
- Parton, M J
- Hanna, M G
- Quinlivan, R
- Farrugia, M E
- Guglieri, M
- Bushby, K
- Straub, V
- Lochmüller, H
- Evangelista, T
Producer: 20180312
In:
Journal of neurology, neurosurgery, and psychiatry vol. 87
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