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Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. [electronic resource] by
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- Morava, Eva
- Riemersma, Moniek
- Schuurs-Hoeijmakers, Janneke H M
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- Verrijp, Kiek
- van den Akker, Willem M R
- Huijben, Karin
- Steenbergen, Gerry
- van Reeuwijk, Jeroen
- Jozwiak, Adam
- Zucker, Nili
- Lorber, Avraham
- Lammens, Martin
- Knopf, Carlos
- van Bokhoven, Hans
- Grünewald, Stephanie
- Lehle, Ludwig
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- Mandel, Hanna
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Producer: 20120321
In:
PLoS genetics vol. 7
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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern. [electronic resource] by
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- Cabrera-Serrano, M
- Johnson, K
- Pandey, A
- Ito, A
- Rivas, E
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- Muelas, N
- Mongini, T
- Nafissi, S
- Claeys, K G
- Grewal, R P
- Takeuchi, M
- Hao, H
- Bönnemann, C
- Lopes Abath Neto, O
- Medne, L
- Brandsema, J
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- Taneva, A
- Vilchez, J J
- Tournev, I
- Haltiwanger, R S
- Takeuchi, H
- Jafar-Nejad, H
- Straub, V
- Paradas, Carmen
Producer: 20210517
In:
Acta neuropathologica vol. 139
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725.
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Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. [electronic resource] by
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- Nishimoto, Akemi
- Chiyonobu, Tomohiro
- Takeda, Satoshi
- Miyagoe-Suzuki, Yuko
- Wang, Fan
- Fujikake, Nobuhiro
- Taniguchi, Mariko
- Lu, Zhongpeng
- Tachikawa, Masaji
- Nagai, Yoshitaka
- Tashiro, Fumi
- Miyazaki, Jun-Ichi
- Tajima, Youichi
- Takeda, Shin'ichi
- Endo, Tamao
- Kobayashi, Kazuhiro
- Campbell, Kevin P
- Toda, Tatsushi
Producer: 20090227
In:
Human molecular genetics vol. 18
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726.
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CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies. [electronic resource] by
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- Hilton-Jones, David
- Schapira, Anthony H
- Turner, Chris
- Parton, Matt
- Desikan, Mahalekshmi
- Barresi, Rita
- Marsh, Julie
- Manzur, Adnan Y
- Childs, Anne-Marie
- Feng, Lucy
- Murphy, Elaine
- Lamont, Phillipa J
- Ravenscroft, Gianina
- Wallefeld, William
- Davis, Mark R
- Laing, Nigel G
- Holton, Janice L
- Fialho, Doreen
- Bushby, Kate
- Hanna, Michael G
- Phadke, Rahul
- Jungbluth, Heinz
- Houlden, Henry
- Quinlivan, Ros
Producer: 20180126
In:
Neuromuscular disorders : NMD vol. 26
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Identification of alpha-dystroglycan as a receptor for lymphocytic choriomeningitis virus and Lassa fever virus. [electronic resource] by
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- Henry, M D
- Borrow, P
- Yamada, H
- Elder, J H
- Ravkov, E V
- Nichol, S T
- Compans, R W
- Campbell, K P
- Oldstone, M B
Producer: 19981224
In:
Science (New York, N.Y.) vol. 282
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732.
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734.
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736.
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737.
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738.
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739.
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740.
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