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A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. [electronic resource] by
- Carbonell-Corvillo, P
- Tristán-Clavijo, E
- Cabrera-Serrano, M
- Servián-Morilla, E
- García-Martín, G
- Villarreal-Pérez, L
- Rivas-Infante, E
- Area-Gómez, E
- Chamorro-Muñoz, M I
- Gil-Gálvez, A
- Miranda-Vizuete, A
- Martinez-Mir, A
- Laing, N
- Paradas, C
Producer: 20191031
In:
Neuromuscular disorders : NMD vol. 28
Availability: No items available.
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Altered myogenesis and premature senescence underlie human TRIM32-related myopathy. [electronic resource] by
- Servián-Morilla, E
- Cabrera-Serrano, M
- Rivas-Infante, E
- Carvajal, A
- Lamont, P J
- Pelayo-Negro, A L
- Ravenscroft, G
- Junckerstorff, R
- Dyke, J M
- Fletcher, S
- Adams, A M
- Mavillard, F
- Fernández-García, M A
- Nieto-González, J L
- Laing, N G
- Paradas, C
Producer: 20200330
In:
Acta neuropathologica communications vol. 7
Availability: No items available.
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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern. [electronic resource] by
- Servián-Morilla, E
- Cabrera-Serrano, M
- Johnson, K
- Pandey, A
- Ito, A
- Rivas, E
- Chamova, T
- 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
- Töpf, A
- 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
Availability: No items available.
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