Anna Naukkarinen

Publications

Research output per year 2001 2010 2013 2015 2016 2017 2018 2019 2020 2021 2023 2024

• 53 Article
• 2 Meeting Abstract
• 1 Review Article

Research output per year

Research output per year

Search results

• 2024

  A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family

  Claeys, K. G., Savarese, M., Jonson, P. H., Goosens, V., Topf, A., Vihola, A., Straub, V. & Udd, B., Oct 2024, In: Neurology Genetics. 10, 5, 6 p., e200185.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

  Töpf, A., Cox, D., Zaharieva, I. T., Di Leo, V., Sarparanta, J., Jonson, P. H., Sealy, I. M., Smolnikov, A., White, R. J., Vihola, A., Savarese, M., Merteroglu, M., Wali, N., Laricchia, K. M., Venturini, C., Vroling, B., Stenton, S. L., Cummings, B. B., Harris, E. & Marini-Bettolo, C. & 65 others, Diaz-Manera, J., Henderson, M., Barresi, R., Duff, J., England, E. M., Patrick, J., Al-Husayni, S., Biancalana, V., Beggs, A. H., Bodi, I., Bommireddipalli, S., Bönnemann, C. G., Cairns, A., Chiew, M. T., Claeys, K. G., Cooper, S. T., Davis, M. R., Donkervoort, S., Erasmus, C. E., Fassad, M. R., Genetti, C. A., Grosmann, C., Jungbluth, H., Kamsteeg, E. J., Lornage, X., Löscher, W. N., Malfatti, E., Manzur, A., Martí, P., Mongini, T. E., Muelas, N., Nishikawa, A., O’Donnell-Luria, A., Ogonuki, N., O’Grady, G. L., O’Heir, E., Paquay, S., Phadke, R., Pletcher, B. A., Romero, N. B., Schouten, M., Shah, S., Smuts, I., Sznajer, Y., Tasca, G., Taylor, R. W., Tuite, A., Van den Bergh, P., VanNoy, G., Voermans, N. C., Wanschitz, J. V., Wraige, E., Yoshimura, K., Oates, E. C., Nakagawa, O., Nishino, I., Laporte, J., Vilchez, J. J., MacArthur, D. G., Sarkozy, A., Cordell, H. J., Udd, B., Busch-Nentwich, E. M., Muntoni, F. & Straub, V., Mar 2024, In: Nature Genetics. 56, 3, p. 395-407 13 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• 2023

  CACNA1S Variant Associated with a Myalgic Myopathy Phenotype

  Periviita, V., Palmio, J., Jokela, M., Hartikainen, P., Vihola, A., Rauramaa, T. & Udd, B., 31 Oct 2023, In: Neurology. 101, 18, p. E1779-E1786 8 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Extension of the DNAJB2a isoform in a dominant neuromyopathy family

  Sarparanta, J., Jonson, P. H., Reimann, J., Vihola, A., Luque, H., Penttilä, S., Johari, M., Savarese, M., Hackman, P., Kornblum, C. & Udd, B., 17 Oct 2023, In: Human Molecular Genetics. 32, 21, p. 3029-3039 11 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies

  Tedesco, B., Vendredy, L., Adriaenssens, E., Cozzi, M., Asselbergh, B., Crippa, V., Cristofani, R., Rusmini, P., Ferrari, V., Casarotto, E., Chierichetti, M., Mina, F., Pramaggiore, P., Galbiati, M., Piccolella, M., Baets, J., Baeke, F., De Rycke, R., Mouly, V. & Laurenzi, T. & 7 others, Eberini, I., Vihola, A., Udd, B., Weiss, L., Kimonis, V., Timmerman, V. & Poletti, A., 3 Aug 2023, In: Autophagy. 19, 8, p. 2217-2239 23 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• 2022

  Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

  Cabrera-Serrano, M., Caccavelli, L., Savarese, M., Vihola, A., Jokela, M., Johari, M., Capiod, T., Madrange, M., Bugiardini, E., Brady, S., Quinlivan, R., Merve, A., Scalco, R., Hilton-Jones, D., Houlden, H., Aydin, H. I., Ceylaner, S., Drewes, S., Vockley, J. & Taylor, R. L. & 18 others, Folland, C., Kelly, A., Goullee, H., Ylikallio, E., Auranen, M., Tyynismaa, H., Udd, B., Forrest, A. R. R., Davis, M. R., Bratkovic, D., Manton, N., Robertson, T., O'Gorman, C., McCombe, P., Laing, N. G., Phillips, L., de Lonlay, P. & Ravenscroft, G., Nov 2022, In: Brain : a journal of neurology. 145, 11, p. 3985–3998 14 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis

  Johari, M., Vihola, A., Palmio, J., Jokela, M., Jonson, P. H., Sarparanta, J., Huovinen, S., Savarese, M., Hackman, P. & Udd, B., Aug 2022, In: Journal of Neurology. 269, p. 4161–4173 13 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• 2021

  Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin

  Sagath, L., Lehtokari, V.-L., Välipakka, S., Vihola, A., Gardberg, M., Hackman, P., Pelin, K., Jokela, M., Kiiski, K., Udd, B. & Wallgren-Pettersson, C., Jun 2021, In: Neuromuscular Disorders. 31, 6, p. 539-545 7 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene

  Hackman, P., Rusanen, S. M., Johari, M., Vihola, A., Jonson, P. H., Sarparanta, J., Donner, K., Lahermo, P., Koivunen, S., Luque, H., Soininen, M., Mahjneh, I., Auranen, M., Arumilli, M., Savarese, M. & Udd, B., Dec 2021, In: Neurology Genetics. 7, 6, 10 p., 632.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

  Johari, M., Sarparanta, J., Vihola, A., Jonson, P. H., Savarese, M., Jokela, M., Torella, A., Piluso, G., Said, E., Vella, N., Cauchi, M., Magot, A., Magri, F., Mauri, E., Kornblum, C., Reimann, J., Stojkovic, T., Romero, N. B., Luque, H. & Huovinen, S. & 6 others, Lahermo, P., Donner, K., Comi, G. P., Nigro, V., Hackman, P. & Udd, B., Aug 2021, In: Acta Neuropathologica. 142, p. 375-393 19 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness

  Savarese, M., Vihola, A., Jokela, M. E., Huovinen, S. P., Gerevini, S., Torella, A., Johari, M., Scarlato, M., Jonson, P. H., Onore, M. E., Hackman, P., Gautel, M., Nigro, V., Previtali, S. C. & Udd, B., Oct 2021, In: Neurology Genetics. 7, 5, 5 p., 619.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• 2020

  Genotype-phenotype correlations in recessive titinopathies

  Savarese, M., Vihola, A., Oates, E. C., Barresi, R., Fiorillo, C., Tasca, G., Jokela, M., Sarkozy, A., Luo, S., Diaz-Manera, J., Ehrstedt, C., Rojas-Garcia, R., Saenz, A., Muelas, N., Lonardo, F., Fodstad, H., Qureshi, T., Johari, M., Välipakka, S. & Luque, H. & 21 others, Petiot, P., de Munain, A. L., Pane, M., Mercuri, E., Torella, A., Nigro, V., Astrea, G., Santorelli, F. M., Bruno, C., Kuntzer, T., Illa, I., Vilchez, J. J., Julien, C., Ferreiro, A., Malandrini, A., Zhao, C.-B., Casar-Borota, O., Davis, M., Muntoni, F., Hackman, P. & Udd, B., Dec 2020, In: Genetics In medicine. 22, 12, p. 2029-2040 12 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Mutations in the J domain of DNAJB6 cause dominant distal myopathy

  Palmio, J., Jonson, P. H., Inoue, M., Sarparanta, J., Bengoechea, R., Savarese, M., Vihola, A., Jokela, M., Nakagawa, M., Noguchi, S., Olivé, M., Masingue, M., Kerty, E., Hackman, P., Weihl, C. C., Nishino, I. & Udd, B., Jan 2020, In: Neuromuscular Disorders. 30, 1, p. 38-46 9 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Panorama of the distal myopathies

  Savarese, M., Sarparanta, J., Vihola, A., Jonson, P. H., Johari, M., Rusanen, S., Hackman, P., Udd, B. & Udd, B., 2020, In: Acta Myologica. 39, 4, p. 245-265 21 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

  Bryen, S. J., Ewans, L. J., Pinner, J., MacLennan, S. C., Donkervoort, S., Castro, D., Topf, A., O'Grady, G., Cummings, B., Chao, K. R., Weisburd, B., Francioli, L., Faiz, F., Bournazos, A. M., Hu, Y., Grosmann, C., Malicki, D. M., Doyle, H., Witting, N. & Vissing, J. & 15 others, Claeys, K. G., Urankar, K., Beleza-Meireles, A., Baptista, J., Ellard, S., Savarese, M., Johari, M., Vihola, A., Udd, B., Majumdar, A., Straub, V., Bonnemann, C. G., MacArthur, D. G., Davis, M. R. & Cooper, S. T., Feb 2020, In: Human mutation. 41, 2, p. 403-411 9 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• 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 journal › Article › Scientific › peer-review

  Open Access

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• A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

  Jokela, M., Lehtinen, S., Palmio, J., Saukkonen, A.-M., Huovinen, S., Vihola, A. & Udd, B., Jul 2019, In: Journal of Neurology. 266, 7, p. 1649-1654 6 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• An unusual ryanodine receptor 1 (RYR1) phenotype Mild calf-predominant myopathy

  Jokela, M., Tasca, G., Vihola, A., Mercuri, E., Jonson, P.-H., Lehtinen, S., Välipakka, S., Pane, M., Donati, M., Johari, M., Savarese, M., Huovinen, S., Isohanni, P., Palmio, J., Hartikainen, P. & Udd, B., 2 Apr 2019, In: Neurology. 92, 14, p. E1600-E1609 10 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene

  Kiiski, K. J., Lehtokari, V.-L., Vihola, A. K., Laitila, J. M., Huovinen, S., Sagath, L. J., Evilä, A. E., Paetau, A. E., Sewry, C. A., Hackman, P. B., Pelin, K. B., Wallgren-Pettersson, C. & Udd, B., Feb 2019, In: Neuromuscular Disorders. 29, 2, p. 97-107 11 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy

  Al-Tahan, S., Weiss, L., Yu, H., Tang, S., Saporta, M., Vihola, A., Mozaffar, T., Udd, B. & Kimonis, V., Aug 2019, In: Neurology Genetics. 5, 4, 10 p., 349.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression

  Vihola, A., Palmio, J., Danielsson, O., Penttilä, S., Louiselle, D., Pittman, S., Weihl, C. & Udd, B., Jun 2019, In: Neurology Genetics. 5, 3, 9 p., 337.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• 2018

  Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy

  Vihola, A., Luque, H., Savarese, M., Penttilä, S., Lindfors, M., Leturcq, F., Eymard, B., Tasca, G., Brais, B., Conte, T., Charton, K., Richard, I. & Udd, B., Aug 2018, In: Neuropathology and Applied Neurobiology. 44, 5, p. 441-448 8 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

  Savarese, M., Maggi, L., Vihola, A., Jonson, P. H., Tasca, G., Ruggiero, L., Bello, L., Magri, F., Giugliano, T., Torella, A., Evilä, A., Di Fruscio, G., Vanakker, O., Gibertini, S., Vercelli, L., Ruggieri, A., Antozzi, C., Luque, H., Janssens, S. & Pasanisi, M. B. & 21 others, Fiorillo, C., Raimondi, M., Ergoli, M., Politano, L., Bruno, C., Rubegni, A., Pane, M., Santorelli, F. M., Minetti, C., Angelini, C., De Bleecker, J., Moggio, M., Mongini, T., Comi, G. P., Santoro, L., Mercuri, E., Pegoraro, E., Mora, M., Hackman, P., Udd, B. & Nigro, V., May 2018, In: JAMA neurology. 75, 5, p. 557-565 9 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

  Genin, E. C., Bannwarth, S., Lespinasse, F., Ortega-Vila, B., Fragaki, K., Itoh, K., Villa, E., Lacas-Gervais, S., Jokela, M., Auranen, M., Ylikallio, E., Mauri-Crouzet, A., Tyynismaa, H., Vihola, A., Auge, G., Cochaud, C., Sesaki, H., Ricci, J.-E., Udd, B. & Vives-Bauza, C. & 1 others, Paquis-Flucklinger, V., Nov 2018, In: Neurobiology of Disease. 119, p. 159-171 13 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• 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 others, Goebel, 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 journal › Article › Scientific › peer-review
• 2017

  A 'second truncation' in TTN causes early onset recessive muscular dystrophy

  Harris, E., Töpf, A., Vihola, A., Evilä, A., Barresi, R., Hudson, J., Hackman, P., Herron, B., MacArthur, D., Lochmüller, H., Bushby, K., Udd, B. & Straub, V., Nov 2017, In: Neuromuscular Disorders. 27, 11, p. 1009-1017 9 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

  Evila, A., Palmio, J., Vihola, A., Savarese, M., Tasca, G., Penttila, S., Lehtinen, S., Jonson, P. H., De Bleecker, J., Rainer, P., Auer-Grumbach, M., Pouget, J., Salort-Campana, E., Vilchez, J. J., Muelas, N., Olive, M., Hackman, P. & Udd, B., Nov 2017, In: Molecular Neurobiology. 54, 9, p. 7212-7223 12 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• 2016

  Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

  Ghaoui, R., Palmio, J., Brewer, J., Lek, M., Needham, M., Evilä, A., Hackman, P., Jonson, P.-H., Penttila, S., Vihola, A., Huovinen, S., Lindfors, M., Davis, R. L., Waddell, L., Kaur, S., Yiannikas, C., North, K., Clarke, N., MacArthur, D. G. & Sue, C. M. & 1 others, Udd, B., 26 Jan 2016, In: Neurology. 86, 4, p. 391-398 8 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family

  Palmio, J., Evilä, A., Bashir, A., Norwood, F., Viitaniemi, K., Vihola, A., Huovinen, S., Straub, V., Hackman, P., Hirano, M., Bushby, K. & Udd, B., Apr 2016, In: Journal of Neurology, Neurosurgery and Psychiatry. 87, 4, p. 448-450 3 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

  Open Access

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• 2015

  Adult onset limb-girdle muscular dystrophy - A recessive titinopathy masquerading as myositis

  Dabby, R., Sadeh, M., Hilton-Jones, D., Plotz, P., Hackman, P., Vihola, A., Udd, B. & Leshinsky-Silver, E., 15 Apr 2015, In: Journal of the Neurological Sciences. 351, 1-2, p. 120-123 4 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• A new titinopathy Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy

  De Cid, R., Ben Yaou, R., Roudaut, C., Charton, K., Baulande, S., Leturcq, F., Romero, N. B., Malfatti, E., Beuvin, M., Vihola, A., Criqui, A., Nelson, I., Nectoux, J., Ben Aim, L., Caloustian, C., Olaso, R., Udd, B., Bonne, G., Eymard, B. & Richard, I., 15 Dec 2015, In: Neurology. 85, 24, p. 2126-2135 10 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• 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 journal › Article › Scientific › peer-review

• Differential Isoform Expression and Selective Muscle Involvement in Muscular Dystrophies

  Huovinen, S., Penttila, S., Somervuo, P., Keto, J., Auvinen, P., Vihola, A., Huovinen, S., Pelin, K., Raheem, O., Salenius, J., Suominen, T., Hackman, P. & Udd, B., Oct 2015, In: The American Journal of Pathology. 185, 10, p. 2833-2842 10 p.

  Research output: Contribution to journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-review
• 2013

  Altered expression and splicing of Ca2+ metabolism genes in myotonic dystrophies DM1 and DM2

  Vihola, A., Sirito, M., Bachinski, L. L., Raheem, O., Screen, M., Suominen, T., Krahe, R. & Udd, B., Jun 2013, In: Neuropathology and Applied Neurobiology. 39, 4, p. 390-405 16 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• The Phenotype of Dysferlin-Deficient Mice Is Not Rescued by Adeno-Associated Virus-Mediated Transfer of Anoctamin 5

  Monjaret, F., Suel-Petat, L., Bourg-Alibert, N., Vihola, A., Marchand, S., Roudaut, C., Gicquel, E., Udd, B., Richard, I. & Charton, K., Jun 2013, In: Human gene therapy. Clinical development. 24, 2, p. 65-76 12 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• 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 journal › Article › Scientific › peer-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 others, Udd, B., 2012, In: Nature Genetics. 44, 4, p. 450-U136 8 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• Titin mutation segregates with hereditary myopathy with early respiratory failure

  Pfeffer, G., Elliott, H. R., Griffin, H., Barresi, R., Miller, J., Marsh, J., Evilä, A., Vihola, A., Hackman, P., Straub, V., Dick, D. J., Horvath, R., Santibanez-Koref, M., Udd, B. & Chinnery, P. F., 2012, In: Brain : a journal of neurology. 135, p. 1695-1713 19 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2010

  Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2

  Vihola, A., Bachinski, L. L., Sirito, M., Olufemi, S.-E., Hajibashi, S., Baggerly, K. A., Raheem, O., Haapasalo, H., Suominen, T., Holmlund-Hampf, J., Paetau, A., Cardani, R., Meola, G., Kalimo, H., Edstrom, L., Krahe, R. & Udd, B., 2010, In: Acta Neuropathologica. 119, 4, p. 465-479 15 p.

  Research output: Contribution to journal › Article › Scientific › peer-review

• 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 journal › Article › Scientific › peer-review

• Mutant (CCTG)n Expansion Causes Abnormal Expression of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy Type 2

  Raheem, O., Olufemi, S. E., Bachinski, L. L., Vihola, A., Sirito, M., Holmlund-Hampf, J., Haapasalo, H., Li, Y. P., Udd, B. & Krahe, R., 2010, In: The American Journal of Pathology. 177, 6, p. 3025-3036 12 p.

  Research output: Contribution to journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-review
• 2008

  Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies

  Fukuzawa, A., Lange, S., Holt, M., Vihola, A., Carmignac, V., Ferreiro, A., Udd, B. & Gautel, M., 2008, In: Journal of Cell Science. 121, Pt 11, p. 1841-1851 11 p.

  Research output: Contribution to journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-review
• 2007

  Zaspopathy in a large classic late-onset distal myopathy family

  Griggs, R., Vihola, A., Hackman, P., Talvinen, K., Haravuori, H., Faulkner, G., Eymard, B., Richard, I., Selcen, D., Engel, A., Carpen, O. & Udd, B., 2007, In: Brain : a journal of neurology. 130, Pt 6, p. 1477-1484 8 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2006

  Myotilinopathy in a family with late onset myopathy

  Penisson-Besnier, I., Talvinen, K., Dumez, C., Vihola, A., Dubas, F., Gardeau, M., Hackman, P., Carpen, O. & Udd, B., 2006, In: Neuromuscular Disorders. 16, 7, p. 427-431 5 p.

  Research output: Contribution to journal › Article › Scientific › peer-review
• 2005

  The kinase domain of titin controls muscle gene expression and protein turnover

  Lange, S., Xiang, F., Yakovenko, A., Vihola, A., Hackman, P., Rostkova, E., Kristensen, J., Brandmeier, B., Franzen, G., Hedberg, B., Gunnarsson, L. G., Hughes, S. M., Marchand, S., Sejersen, T., Richard, I., Edström, L., Ehler, E., Udd, B. & Gautel, M., 2005, In: Science. 308, 5728, p. 1599-1603 5 p.

  Research output: Contribution to journal › Article › Scientific › peer-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 journal › Article › Scientific › peer-review
• 2004

  New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2)

  Sallinen, R., Vihola, A., Bachinski, L., Huoponen, K., Haapasalo, H., Hackman, P., Zhang, S., Sirito, M., Kalimo, H., Meola, G., Horelli-Kuitunen, N., Wessman, M., Krahe, R. & Udd, B., Apr 2004, In: Neuromuscular Disorders. 14, 4, p. 274-283 10 p.

  Research output: Contribution to journal › Article › Scientific › peer-review