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Publications 2002 2019

  • 17 Article
  • 2 Review Article
  • 1 Meeting Abstract
  • 1 Doctoral Thesis
2019

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

Savarese, M., Palmio, J., Poza, J. J., Weinberg, J., Olive, M., Cobo, A. M., Vihola, A., Jonson, P. H., Sarparanta, J., Garcia-Bragado, F., Urtizberea, J. A., Hackman, P. & Udd, B., Jun 2019, In : Annals of Neurology. 85, 6, p. 899-906 8 p.

Research output: Contribution to journalArticleScientificpeer-review

2018

Autophagy Regulates the Liver Clock and Glucose Metabolism by Degrading CRY1

Toledo, M., Batista-Gonzalez, A., Merheb, E., Aoun, M. L., Tarabra, E., Feng, D., Sarparanta, J., Merlo, P., Botre, F., Schwartz, G. J., Pessin, J. E. & Singh, R., 7 Aug 2018, In : Cell Metabolism. 28, 2, p. 268-+ 18 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

Lee, Y., Jonson, P. H., Sarparanta, J., Palmio, J., Sarkar, M., Vihola, A., Evilä, A., Suominen, T., Penttila, S., Savarese, M., Johari, M., Minot, M-C., Hilton-Jones, D., Maddison, P., Chinnery, P., Reimann, J., Kornblum, C., Kraya, T., Zierz, S., Sue, C. & 8 othersGoebel, H., Azfer, A., Ralston, S. H., Hackman, P., Bucelli, R. C., Taylor, J. P., Weihl, C. C. & Udd, B., 1 Mar 2018, In : Journal of Clinical Investigation. 128, 3, p. 1164-1177 14 p.

Research output: Contribution to journalArticleScientificpeer-review

2016

Complex processing of titin C-terminus by alternative cleavage of the is7 domain

Vihola, A., Luque, H., Jonson, P., Sarparanta, J. & Udd, B., Oct 2016, In : Neuromuscular Disorders. 26, p. S114-S114 1 p.

Research output: Contribution to journalMeeting AbstractResearch

Increasing Role of Titin Mutations in Neuromuscular Disorders

Savarese, M., Sarparanta, J., Vihola, A., Udd, B. & Hackman, P., 2016, In : Journal of Neuromuscular Diseases. 3, 3, p. 293-308 16 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

Open Access
File
2015

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy

Charton, K., Sarparanta, J., Vihola, A., Milic, A., Jonson, P. H., Suel, L., Luque, H., Boumela, I., Richard, I. & Udd, B., 1 Jul 2015, In : Human Molecular Genetics. 24, 13, p. 3718-3731 14 p.

Research output: Contribution to journalArticleScientificpeer-review

2014

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

2013

Molecular pathomechanisms of muscular dystrophies

Sarparanta, J., 2013, Helsinki: Helsingin yliopisto.

Research output: ThesisDoctoral ThesisCollection of Articles

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

Lihasrappeumataudin uusi yllättävä geenivirhe kaitsijaproteiini DNAJB6:ssa

Sarparanta, J. J., Jonson, P. H., Golzio, C., Sandell, S., Luque, H., Screen, M., McDonald, K., Stajich, J., Mahjneh, I., Vihola, A., Raheem, O., Penttilä, S., Lehtinen, S., Huovinen, S., Palmio, J., Tasca, G., Ricci, E., Hackman, P., Hauser, M., Katsanis, N. & 1 othersUdd, B., 2012, In : Duodecim. 128, 7, p. 764 1 p.

Research output: Contribution to journalArticleProfessional

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

2011

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus

Hackman, P., Sandell, S., Sarparanta, J., Luque, H., Huovinen, S., Palmio, J., Paetau, A., Kalimo, H., Mahjneh, I. & Udd, B., 2011, In : Neuromuscular Disorders. 21, 5, p. 338-344 7 p.

Research output: Contribution to journalArticleScientificpeer-review

2010

Interactions with M-band Titin and Calpain 3 Link Myospryn (CMYA5) to Tibial and Limb-girdle Muscular Dystrophies

Sarparanta, J., Blandin, G., Charton, K., Vihola, A., Marchand, S., Milic, A., Hackman, P., Ehler, E., Richard, I. & Udd, B., 2010, In : Journal of Biological Chemistry. 285, 39, p. 30304-30315 12 p.

Research output: Contribution to journalArticleScientificpeer-review

Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies

Charton, K., Daniele, N., Vihola, A., Roudaut, C., Gicquel, E., Monjaret, F., Tarrade, A., Sarparanta, J., Udd, B. & Richard, I., 2010, In : Human Molecular Genetics. 19, 23, p. 4608-4624 17 p.

Research output: Contribution to journalArticleScientificpeer-review

The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy

Sandell, S., Huovinen, S., Sarparanta, J., Luque, H., Raheem, O., Haapasalo, H., Hackman, P. & Udd, B., 2010, In : Journal of Neurology, Neurosurgery and Psychiatry. 81, 8, p. 834-839 6 p.

Research output: Contribution to journalArticleScientificpeer-review

2008

Biology of myospryn: what's known?

Sarparanta, J., 2008, In : Journal of Muscle Research and Cell Motility. 29, 6/8, p. 177-180 4 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)

Hackman, P., Marchand, S., Sarparanta, J., Vihola, A., Penisson-Besnier, I., Eymard, B., Hammouda, E-H., Richard, I., Illa, I., Udd, B. & Vihola, A. E. B., 2008, In : Neuromuscular Disorders. 18, 12, p. 922-928 7 p.

Research output: Contribution to journalArticleScientificpeer-review

2006

Constitutive upregulations of titin-based signalling proteins in KY deficient muscles

Beatham, J., Gehmlich, K., van der Ven, P. F. M., Sarparanta, J., Williams, D., Underhill, P., Geier, C., Furst, D. O., Udd, B. & Blanco, G., 2006, In : Neuromuscular Disorders. 16, 7, p. 437-445 9 p.

Research output: Contribution to journalArticleScientificpeer-review

2005

Enrichment of the R77C alpha-sarcoglycan gene mutation in finnish LGMD2D patients

Hackman, P., Juvonen, V., Sarparanta, J., Penttinen, M., Äärimaa, T., Uusitalo, M., Auranen, M., Pihko, H., Alen, R., Junes, M., Lönnqvist, T., Kalimo, H. & Udd, B., 2005, In : Muscle & Nerve. 31, 2, p. 199-204 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J

Udd, B., Vihola, A., Sarparanta, J., Richard, I. & Hackman, P., 2005, In : Neurology. 64, 4, p. 636-642 7 p.

Research output: Contribution to journalArticleScientificpeer-review

2002

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

Hackman, P., Vihola, A., Haravuori, H., Marchand, S., Sarparanta, J., de Seze, J., Labeit, S., Witt, C., Peltonen, L., Richard & Udd, B., Sep 2002, In : American Journal of Human Genetics. 71, 3, p. 492-500 9 p.

Research output: Contribution to journalArticleScientificpeer-review