20122016
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Publications 2012 2016

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2016

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Klionsky, D. J., Abdelmohsen, K., Abe, A., Abedin, M. J., Eskelinen, E-L., Hulmi, J. J., Korhonen, L., Lindholm, D., Screen, M., Stratoulias, V. & Zughaier, S. M., 21 Jan 2016, In : Autophagy. 12, 1, p. 1-222

Research output: Contribution to journalArticleScientificpeer-review

2014

Abnormal Splicing of NEDD4 in Myotonic Dystrophy Type 2 Possible Link to Statin Adverse Reactions

Screen, M., Jonson, P. H., Raheem, O., Palmio, J., Laaksonen, R., Lehtimaki, T., Sirito, M., Krahe, R., Hackman, P. & Udd, B., 1 Aug 2014, In : The American Journal of Pathology. 184, 8, p. 2322-2332 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Atypical phenotypes in titinopathies explained by second titin mutations

Evilä, A., Vihola, A., Sarparanta, J., Raheem, O., Palmio, J., Sandell, S., Eymard, B., Illa, I., Rojas-Garcia, R., Hankiewicz, K., Negrao, L., Lopponen, T., Nokelainen, P., Karppa, M., Penttila, S., Screen, M., Suominen, T., Richard, I., Hackman, P. & Udd, B., Feb 2014, In : Annals of Neurology. 75, 2, p. 230-240 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Gene Expression Profiling in Tibial Muscular Dystrophy Reveals Unfolded Protein Response and Altered Autophagy

Screen, M., Raheem, O., Holmlund-Hampf, J., Jonson, P. H., Huovinen, S., Hackman, P. & Udd, B., 11 Mar 2014, In : PLoS One. 9, 3, 9 p., 90819.

Research output: Contribution to journalArticleScientificpeer-review

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2013

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

Hackman, P., Sarparanta, J., Lehtinen, S., Vihola, A., Evilä, A., Jonson, P. H., Luque, H., Kere, J., Screen, M., Chinnery, P. F., Ahlberg, G., Edstrom, L. & Udd, B., Apr 2013, In : Annals of Neurology. 73, 4, p. 500-509 10 p.

Research output: Contribution to journalArticleScientificpeer-review

2012

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Sarparanta, J., Jonson, P. H., Golzio, C., Sandell, S., Luque, H., Screen, M., McDonald, K., Stajich, J. M., Mahjneh, I., Vihola, A., Raheem, O., Penttila, S., Lehtinen, S., Huovinen, S., Palmio, J., Tasca, G., Ricci, E., Hackman, P., Hauser, M., Katsanis, N. & 1 othersUdd, B., 2012, In : Nature Genetics. 44, 4, p. 450-U136 8 p.

Research output: Contribution to journalArticleScientificpeer-review