Results
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61.
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Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures. [electronic resource] by
- Vanherpe, P
- Fieuws, S
- D'Hondt, A
- Bleyenheuft, C
- Demaerel, P
- De Bleecker, J
- Van den Bergh, P
- Baets, J
- Remiche, G
- Verhoeven, K
- Delstanche, S
- Toussaint, M
- Buyse, B
- Van Damme, P
- Depuydt, C E
- Claeys, K G
Producer: 20210618
In:
Orphanet journal of rare diseases vol. 15
Availability: No items available.
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62.
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Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C. [electronic resource] by
- Dermaut, B
- Seneca, S
- Dom, L
- Smets, K
- Ceulemans, L
- Smet, J
- De Paepe, B
- Tousseyn, S
- Weckhuysen, S
- Gewillig, M
- Pals, P
- Parizel, P
- De Bleecker, J L
- Boon, P
- De Meirleir, L
- De Jonghe, P
- Van Coster, R
- Van Paesschen, W
- Santens, P
Producer: 20100105
In:
Journal of neurology, neurosurgery, and psychiatry vol. 81
Availability: No items available.
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63.
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The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter. [electronic resource] by
- Gijselinck, I
- Van Mossevelde, S
- van der Zee, J
- Sieben, A
- Engelborghs, S
- De Bleecker, J
- Ivanoiu, A
- Deryck, O
- Edbauer, D
- Zhang, M
- Heeman, B
- Bäumer, V
- Van den Broeck, M
- Mattheijssens, M
- Peeters, K
- Rogaeva, E
- De Jonghe, P
- Cras, P
- Martin, J-J
- de Deyn, P P
- Cruts, M
- Van Broeckhoven, C
Producer: 20170925
In:
Molecular psychiatry vol. 21
Availability: No items available.
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64.
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Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. [electronic resource] by
- Anheim, M
- Monga, B
- Fleury, M
- Charles, P
- Barbot, C
- Salih, M
- Delaunoy, J P
- Fritsch, M
- Arning, L
- Synofzik, M
- Schöls, L
- Sequeiros, J
- Goizet, C
- Marelli, C
- Le Ber, I
- Koht, J
- Gazulla, J
- De Bleecker, J
- Mukhtar, M
- Drouot, N
- Ali-Pacha, L
- Benhassine, T
- Chbicheb, M
- M'Zahem, A
- Hamri, A
- Chabrol, B
- Pouget, J
- Murphy, R
- Watanabe, M
- Coutinho, P
- Tazir, M
- Durr, A
- Brice, A
- Tranchant, C
- Koenig, M
Producer: 20100203
In:
Brain : a journal of neurology vol. 132
Availability: No items available.
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