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1دورية أكاديمية
المؤلفون: Bettencourt, C., Santos, C., Coutinho, P., Rizzu, P., Vasconcelos, J., Kay, T., Cymbron, T., Raposo, M., Heutink, P., Lima, M.
المصدر: Bettencourt , C , Santos , C , Coutinho , P , Rizzu , P , Vasconcelos , J , Kay , T , Cymbron , T , Raposo , M , Heutink , P & Lima , M 2011 , ' Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report ' , BMC Neurology , vol. 11 , 131 . https://doi.org/10.1186/1471-2377-11-131Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1186/1471-2377-11-131Test
https://research.vumc.nl/en/publications/8bfa038f-aa95-49f4-8910-cd4572b83508Test
https://research.vumc.nl/ws/files/871708/282638.pdfTest -
2دورية أكاديمية
المؤلفون: Bettencourt, C., Santos, C., Coutinho, P., Rizzu, P., Vasconcelos, J., Kay, T., Cymbron, T., Raposo, M., Heutink, P., Lima, M.
المصدر: Bettencourt , C , Santos , C , Coutinho , P , Rizzu , P , Vasconcelos , J , Kay , T , Cymbron , T , Raposo , M , Heutink , P & Lima , M 2011 , ' Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report ' , BMC Neurology , vol. 11 , 131 . https://doi.org/10.1186/1471-2377-11-131Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1186/1471-2377-11-131Test
https://research.vumc.nl/en/publications/8bfa038f-aa95-49f4-8910-cd4572b83508Test
https://research.vumc.nl/ws/files/871708/282638.pdfTest -
3دورية أكاديمية
المؤلفون: Bettencourt, C., Yebenes, J.G., Lopez-Sendon, J.L., Shomroni, O., Zhang, X.Q., Qian, S.B., Bakker, I.M.C., Heetveld, S., Ros, R., Quintans, B., Sobrido, M.J., Bevova, M.R., Jain, S., Bugiani, M., Heutink, P., Rizzu, P.
المصدر: Bettencourt , C , Yebenes , J G , Lopez-Sendon , J L , Shomroni , O , Zhang , X Q , Qian , S B , Bakker , I M C , Heetveld , S , Ros , R , Quintans , B , Sobrido , M J , Bevova , M R , Jain , S , Bugiani , M , Heutink , P & Rizzu , P 2015 , ' Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1 ' , Cerebellum , vol. 14 , ....
الإتاحة: https://doi.org/10.1007/s12311-014-0643-7Test
https://research.vumc.nl/en/publications/82b5e8f9-9e81-47cd-b3b3-de9b50b58d92Test -
4دورية أكاديمية
المؤلفون: Bettencourt, C., Yebenes, J.G., Lopez-Sendon, J.L., Shomroni, O., Zhang, X.Q., Qian, S.B., Bakker, I.M.C., Heetveld, S., Ros, R., Quintans, B., Sobrido, M.J., Bevova, M.R., Jain, S., Bugiani, M., Heutink, P., Rizzu, P.
المصدر: Bettencourt , C , Yebenes , J G , Lopez-Sendon , J L , Shomroni , O , Zhang , X Q , Qian , S B , Bakker , I M C , Heetveld , S , Ros , R , Quintans , B , Sobrido , M J , Bevova , M R , Jain , S , Bugiani , M , Heutink , P & Rizzu , P 2015 , ' Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1 ' , Cerebellum , vol. 14 , ....
الإتاحة: https://doi.org/10.1007/s12311-014-0643-7Test
https://research.vumc.nl/en/publications/82b5e8f9-9e81-47cd-b3b3-de9b50b58d92Test -
5دورية أكاديمية
المؤلفون: Bettencourt, C., Lopez-Sendon, J.L., Garcia-Caldentey, J., Rizzu, P., Bakker, I.M.C., Shomroni, O., Quintans, B., Davila, J.R., Bevova, M.R., Sobrido, M.J., Heutink, P., Yebenes, J.G.
المصدر: Bettencourt , C , Lopez-Sendon , J L , Garcia-Caldentey , J , Rizzu , P , Bakker , I M C , Shomroni , O , Quintans , B , Davila , J R , Bevova , M R , Sobrido , M J , Heutink , P & Yebenes , J G 2014 , ' Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia ' , Clinical Genetics , vol. 85 , no. 2 , pp. 154-158 . https://doi.org/10.1111/cge.12133Test
الإتاحة: https://doi.org/10.1111/cge.12133Test
https://research.vumc.nl/en/publications/94b3538f-2a9b-40d5-b792-228e8f10ac3eTest -
6دورية أكاديمية
المؤلفون: Bettencourt, C., Lopez-Sendon, J. L., Garcia-Caldentey, J., Rizzu, P., Bakker, I. M. C., Shomroni, O., Quintans, B., Davila, J. R., Bevova, M. R., Sobrido, M-J, Heutink, P., de Yebenes, J. G.
المصدر: Bettencourt , C , Lopez-Sendon , J L , Garcia-Caldentey , J , Rizzu , P , Bakker , I M C , Shomroni , O , Quintans , B , Davila , J R , Bevova , M R , Sobrido , M-J , Heutink , P & de Yebenes , J G 2014 , ' Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia ' , Clinical Genetics , vol. 85 , no. 2 , pp. 154-158 . https://doi.org/10.1111/cge.12133Test
مصطلحات موضوعية: genetic heterogeneity, molecular diagnosis, next-generation sequencing, spastic paraplegia, SPG11, whole-exome sequencing, THIN CORPUS-CALLOSUM, SPG11 MUTATIONS, SPATACSIN, PHENOTYPE
الإتاحة: https://doi.org/10.1111/cge.12133Test
https://hdl.handle.net/11370/1d46201c-bf63-42e6-b244-171c5c1fdc50Test
https://research.rug.nl/en/publications/1d46201c-bf63-42e6-b244-171c5c1fdc50Test
