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TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype. [electronic resource] by
- Donkervoort, S
- Papadaki, M
- de Winter, J M
- Neu, M B
- Kirschner, J
- Bolduc, V
- Yang, M L
- Gibbons, M A
- Hu, Y
- Dastgir, J
- Leach, M E
- Rutkowski, A
- Foley, A R
- Krüger, M
- Wartchow, E P
- McNamara, E
- Ong, R
- Nowak, K J
- Laing, N G
- Clarke, N F
- Ottenheijm, Cac
- Marston, S B
- Bönnemann, C G
Producer: 20160526
In:
Annals of neurology vol. 78
Availability: No items available.
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MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. [electronic resource] by
- Donkervoort, S
- Sabouny, R
- Yun, P
- Gauquelin, L
- Chao, K R
- Hu, Y
- Al Khatib, I
- Töpf, A
- Mohassel, P
- Cummings, B B
- Kaur, R
- Saade, D
- Moore, S A
- Waddell, L B
- Farrar, M A
- Goodrich, J K
- Uapinyoying, P
- Chan, S H S
- Javed, A
- Leach, M E
- Karachunski, P
- Dalton, J
- Medne, L
- Harper, A
- Thompson, C
- Thiffault, I
- Specht, S
- Lamont, R E
- Saunders, C
- Racher, H
- Bernier, F P
- Mowat, D
- Witting, N
- Vissing, J
- Hanson, R
- Coffman, K A
- Hainlen, M
- Parboosingh, J S
- Carnevale, A
- Yoon, G
- Schnur, R E
- Boycott, K M
- Mah, J K
- Straub, V
- Foley, A Reghan
- Innes, A M
- Bönnemann, C G
- Shutt, T E
Producer: 20200903
In:
Acta neuropathologica vol. 138
Availability: No items available.
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