Results
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4821.
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4822.
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4823.
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4824.
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4825.
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4826.
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4827.
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4828.
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4829.
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4830.
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4831.
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4832.
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4833.
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Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. [electronic resource] by
- Bevilacqua, J A
- Monnier, N
- Bitoun, M
- Eymard, B
- Ferreiro, A
- Monges, S
- Lubieniecki, F
- Taratuto, A L
- Laquerrière, A
- Claeys, K G
- Marty, I
- Fardeau, M
- Guicheney, P
- Lunardi, J
- Romero, N B
Producer: 20110620
In:
Neuropathology and applied neurobiology vol. 37
Availability: No items available.
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4834.
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RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine. [electronic resource] by
- Illingworth, M A
- Main, M
- Pitt, M
- Feng, L
- Sewry, C A
- Gunny, R
- Vorstman, E
- Beeson, D
- Manzur, A
- Muntoni, F
- Robb, S A
Producer: 20150302
In:
Neuromuscular disorders : NMD vol. 24
Availability: No items available.
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4835.
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4836.
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Genetic modulation of the SERCA activity does not affect the Ca(2+) leak from the cardiac sarcoplasmic reticulum. [electronic resource] by
- Morimoto, Satoshi
- Hongo, Kenichi
- Kusakari, Yoichiro
- Komukai, Kimiaki
- Kawai, Makoto
- O-Uchi, Jin
- Nakayama, Hiroyuki
- Asahi, Michio
- Otsu, Kinya
- Yoshimura, Michihiro
- Kurihara, Satoshi
Producer: 20140930
In:
Cell calcium vol. 55
Availability: No items available.
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4837.
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Reliability and Validity of Self-Report Questionnaires as Indicators of Fatigue in RYR1-Related Disorders. [electronic resource] by
- Kuo, Anna
- Todd, Joshua J
- Witherspoon, Jessica W
- Lawal, Tokunbor A
- Elliott, Jeffery
- Chrismer, Irene C
- Shelton, Monique O
- Razaqyar, Muslima S
- Jain, Minal S
- Vasavada, Ruhi
- Waite, Melissa
- Drinkard, Bart
- Michael, Darren
- Richarte, Alicia
- Bönnemann, Carsten G
- Meilleur, Katherine G
Producer: 20200102
In:
Journal of neuromuscular diseases vol. 6
Availability: No items available.
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4838.
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Genomic Characteristics of Gender Dysphoria Patients and Identification of Rare Mutations in RYR3 Gene. [electronic resource] by
- Yang, Fu
- Zhu, Xiao-Hai
- Zhang, Qing
- Sun, Ning-Xia
- Ji, Yi-Xuan
- Ma, Jin-Zhao
- Xiao, Bang
- Ding, Hai-Xia
- Sun, Shu-Han
- Li, Wen
Producer: 20190419
In:
Scientific reports vol. 7
Availability: No items available.
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4839.
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4840.
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