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14 results for Vihola,+Anna

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ArticlesPeer ReviewedFull Text
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
Author / Creator:Sarparanta, Jaakko ; Jonson, Per Harald ; Golzio, Christelle ; Sandell, Satu ; Luque, Helena ; Screen, Mark ; McDonald, Kristin ; Stajich, Jeffrey M ; Mahjneh, Ibrahim ; Vihola, Anna ; Raheem, Olayinka ; Penttilä, Sini ; Lehtinen, Sara ; Huovinen, Sanna ; Palmio, Johanna ; Tasca, Giorgio ; Ricci, Enzo ; Hackman, Peter ; Hauser, Michael ; Katsanis, Nicholas ; Udd, Bjarne
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-04, Vol.44 (4), p.450-455
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Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy
Author / Creator:Evilä, Anni ; Palmio, Johanna ; Vihola, Anna ; Savarese, Marco ; Tasca, Giorgio ; Penttilä, Sini ; Lehtinen, Sara ; Jonson, Per Harald ; De Bleecker, Jan ; Rainer, Peter ; Auer-Grumbach, Michaela ; Pouget, Jean ; Salort-Campana, Emmanuelle ; Vilchez, Juan J. ; Muelas, Nuria ; Olive, Montse ; Hackman, Peter ; Udd, Bjarne
Publisher:New York: Springer US
Journal title:Molecular neurobiology, 2017-11, Vol.54 (9), p.7212-7223
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Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover
Author / Creator:Lange, Stephan ; Xiang, Fengqing ; Yakovenko, Andrey ; Vihola, Anna ; Hackman, Peter ; Rostkova, Elena ; Kristensen, Jakob ; Brandmeier, Birgit ; Franzen, Gereon ; Hedberg, Birgitta ; Gunnarsson, Lars Gunnar ; Hughes, Simon M ; Marchand, Sylvie ; Sejersen, Thomas ; Richard, Isabelle ; Edström, Lars ; Ehler, Elisabeth ; Udd, Bjarne ; Gautel, Mathias
Publisher:Washington, DC: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2005-06, Vol.308 (5728), p.1599-1603
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Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2
Author / Creator:Vihola, Anna ; Bachinski, Linda L. ; Sirito, Mario ; Olufemi, Shodimu-Emmanuel ; Hajibashi, Shohrae ; Baggerly, Keith A. ; Raheem, Olayinka ; Haapasalo, Hannu ; Suominen, Tiina ; Holmlund-Hampf, Jeanette ; Paetau, Anders ; Cardani, Rosanna ; Meola, Giovanni ; Kalimo, Hannu ; Edström, Lars ; Krahe, Ralf ; Udd, Bjarne
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Acta neuropathologica, 2010-04, Vol.119 (4), p.465-479
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Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort
Author / Creator:Fattori, Fabiana ; Maggi, Lorenzo ; Bruno, Claudio ; Cassandrini, Denise ; Codemo, Valentina ; Catteruccia, Michela ; Tasca, Giorgio ; Berardinelli, Angela ; Magri, Francesca ; Pane, Marika ; Rubegni, Anna ; Santoro, Lucio ; Ruggiero, Lucia ; Fiorini, Patrizio ; Pini, Antonella ; Mongini, Tiziana ; Messina, Sonia ; Brisca, Giacomo ; Colombo, Irene ; Astrea, Guja ; Fiorillo, Chiara ; Bragato, Cinzia ; Moroni, Isabella ; Pegoraro, Elena ; D’Apice, Maria Rosaria ; Alfei, Enrico ; Mora, Marina ; Morandi, Lucia ; Donati, Alice ; Evilä, Anni ; Vihola, Anna ; Udd, Bjarne ; Bernansconi, Pia ; Mercuri, Eugenio ; Santorelli, Filippo Maria ; Bertini, Enrico ; D’Amico, Adele
Journal title:Journal of neurology, 2015-05, Vol.262 (7), p.1728-1740
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Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis
Author / Creator:Johari, Mridul ; Vihola, Anna ; Palmio, Johanna ; Jokela, Manu ; Jonson, Per Harald ; Sarparanta, Jaakko ; Huovinen, Sanna ; Savarese, Marco ; Hackman, Peter ; Udd, Bjarne
Publisher:Heidelberg: Springer Nature B.V
Journal title:Journal of neurology, 2022-08, Vol.269 (8), p.4161-4173
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TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations
Author / Creator:Lee, YouJin ; Jonson, Per Harald ; Sarparanta, Jaakko ; Palmio, Johanna ; Sarkar, Mohona ; Vihola, Anna ; Evilä, Anni ; Suominen, Tiina ; Penttilä, Sini ; Savarese, Marco ; Johari, Mridul ; Minot, Marie-Christine ; Hilton-Jones, David ; Maddison, Paul ; Chinnery, Patrick ; Reimann, Jens ; Kornblum, Cornelia ; Kraya, Torsten ; Zierz, Stephan ; Sue, Carolyn ; Goebel, Hans ; Azfer, Asim ; Ralston, Stuart H. ; Hackman, Peter ; Bucelli, Robert C. ; Taylor, J. Paul ; Weihl, Conrad C. ; Udd, Bjarne
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2018-03, Vol.128 (3), p.1164-1177
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A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy
Author / Creator:Jokela, Manu ; Lehtinen, Sara ; Palmio, Johanna ; Saukkonen, Anna-Maija ; Huovinen, Sanna ; Vihola, Anna ; Udd, Bjarne
Publisher:Heidelberg: Springer Nature B.V
Journal title:Journal of neurology, 2019-07, Vol.266 (7), p.1649-1654
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Genotype–phenotype correlations in recessive titinopathies
Author / Creator:Savarese, Marco ; Vihola, Anna ; Oates, Emily C. ; Barresi, Rita ; Fiorillo, Chiara ; Tasca, Giorgio ; Jokela, Manu ; Sarkozy, Anna ; Luo, Sushan ; Díaz-Manera, Jordi ; Ehrstedt, Christoffer ; Rojas-García, Ricardo ; Sáenz, Amets ; Muelas, Nuria ; Lonardo, Fortunato ; Fodstad, Heidi ; Qureshi, Talha ; Johari, Mridul ; Välipakka, Salla ; Luque, Helena ; Petiot, Philippe ; de Munain, Adolfo López ; Pane, Marika ; Mercuri, Eugenio ; Torella, Annalaura ; Nigro, Vincenzo ; Astrea, Guja ; Santorelli, Filippo Maria ; Bruno, Claudio ; Kuntzer, Thierry ; Illa, Isabel ; Vílchez, Juan J. ; Julien, Cedric ; Ferreiro, Ana ; Malandrini, Alessandro ; Zhao, Chong-Bo ; Casar-Borota, Olivera ; Davis, Mark ; Muntoni, Francesco ; Hackman, Peter ; Udd, Bjarne
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-12, Vol.22 (12), p.2029-2040
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Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family
Author / Creator:Palmio, Johanna ; Evilä, Anni ; Bashir, Ayat ; Norwood, Fiona ; Viitaniemi, Kati ; Vihola, Anna ; Huovinen, Sanna ; Straub, Volker ; Hackman, Peter ; Hirano, Michio ; Bushby, Kate ; Udd, Bjarne
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of neurology, neurosurgery and psychiatry, 2016-04, Vol.87 (4), p.448-450
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Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
Author / Creator:Johari, Mridul ; Sarparanta, Jaakko ; Vihola, Anna ; Jonson, Per Harald ; Savarese, Marco ; Jokela, Manu ; Torella, Annalaura ; Piluso, Giulio ; Said, Edith ; Vella, Norbert ; Cauchi, Marija ; Magot, Armelle ; Magri, Francesca ; Mauri, Eleonora ; Kornblum, Cornelia ; Reimann, Jens ; Stojkovic, Tanya ; Romero, Norma B. ; Luque, Helena ; Huovinen, Sanna ; Lahermo, Päivi ; Donner, Kati ; Comi, Giacomo Pietro ; Nigro, Vincenzo ; Hackman, Peter ; Udd, Bjarne
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2021-08, Vol.142 (2), p.375-393
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ArticlesPeer ReviewedFull Text
Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort
Author / Creator:Fattori, Fabiana ; Maggi, Lorenzo ; Bruno, Claudio ; Cassandrini, Denise ; Codemo, Valentina ; Catteruccia, Michela ; Tasca, Giorgio ; Berardinelli, Angela ; Magri, Francesca ; Pane, Marika ; Rubegni, Anna ; Santoro, Lucio ; Ruggiero, Lucia ; Fiorini, Patrizio ; Pini, Antonella ; Mongini, Tiziana ; Messina, Sonia ; Brisca, Giacomo ; Colombo, Irene ; Astrea, Guja ; Fiorillo, Chiara ; Bragato, Cinzia ; Moroni, Isabella ; Pegoraro, Elena ; D’Apice, Maria Rosaria ; Alfei, Enrico ; Mora, Marina ; Morandi, Lucia ; Donati, Alice ; Evilä, Anni ; Vihola, Anna ; Udd, Bjarne ; Bernansconi, Pia ; Mercuri, Eugenio ; Santorelli, Filippo Maria ; Bertini, Enrico ; D’Amico, Adele
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2015-07, Vol.262 (7), p.1728-1740
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Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis
Author / Creator:Johari, Mridul ; Vihola, Anna ; Palmio, Johanna ; Jokela, Manu ; Jonson, Per Harald ; Sarparanta, Jaakko ; Huovinen, Sanna ; Savarese, Marco ; Hackman, Peter ; Udd, Bjarne
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2021-10
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Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis
Author / Creator:Cabrera-Serrano, Macarena ; Caccavelli, Laure ; Savarese, Marco ; Vihola, Anna ; Jokela, Manu ; Johari, Mridul ; Capiod, Thierry ; Madrange, Marine ; Bugiardini, Enrico ; Brady, Stefen ; Quinlivan, Rosaline ; Merve, Ashirwad ; Scalco, Renata ; Hilton-Jones, David ; Houlden, Henry ; Aydin, Halil ; Ceylaner, Serdar ; Vockley, Jerry ; Taylor, Rhonda L ; Goullee, Hayley ; Ylikallio, Emil ; Auranen, Mari ; Tyynismaa, Henna ; Udd, Bjarne ; Forrest, Alistair RR ; Davis, Mark R ; Bratkovic, Drago ; Manton, Nicholas ; Robertson, Thomas ; McCombe, Pamela ; Laing, Nigel G ; Phillips, Liza ; de Lonlay, Pascale ; Ravenscroft, Gianina
Publisher:Cold Spring Harbor Laboratory
Journal title:bioRxiv, 2021-06
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Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

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

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Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover

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

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Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort

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

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TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

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

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Genotype–phenotype correlations in recessive titinopathies

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

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

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Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort

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

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Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis

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