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

Authors: Kiiski, Kirsi J., Lehtokari, Vilma-Lotta, Vihola, Anna K., Laitila, Jenni M., Huovinen, Sanna, Sagath, Lydia J., Evilä, Anni E., Paetau, Anders E., Sewry, Caroline A., Hackman, Peter B., Pelin, Katarina B., Wallgren-Pettersson, Carina, Udd, Bjarne

Source: In Neuromuscular Disorders February 2019 29(2):97-107

A ‘second truncation’ in TTN causes early onset recessive muscular dystrophy

Authors: Harris, Elizabeth, Töpf, Ana, Vihola, Anna, Evilä, Anni, Barresi, Rita, Hudson, Judith, Hackman, Peter, Herron, Brian, MacArthur, Daniel, Lochmüller, Hanns, Bushby, Kate, Udd, Bjarne, Straub, Volker ^*

Source: In Neuromuscular Disorders November 2017 27(11):1009-1017

Targeted next-generation sequencing assay for detection of mutations in primary myopathies

Authors: Evilä, Anni ^*, Arumilli, Meharji, Udd, Bjarne, Hackman, Peter

Source: In Neuromuscular Disorders January 2016 26(1):7-15

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

Authors: Palmio, Johanna ^*, Jonson, Per Harald, Evilä, Anni, Auranen, Mari, Straub, Volker, Bushby, Kate, Sarkozy, Anna, Kiuru-Enari, Sari, Sandell, Satu, Pihko, Helena, Hackman, Peter, Udd, Bjarne

Source: In Neuromuscular Disorders November 2015 25(11):835-842

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

Authors: Ghaoui, Roula, Palmio, Johanna, Brewer, Janice, Lek, Monkol, Needham, Merrilee, Evilä, Anni, Hackman, Peter, Jonson, Per-Harald, Penttilä, Sini, Vihola, Anna, Huovinen, Sanna, Lindfors, Mikaela, Davis, Ryan L., Waddell, Leigh, Kaur, Simran, Yiannikas, Con, North, Kathryn, Clarke, Nigel, MacArthur, Daniel G., Sue, Carolyn M., Udd, Bjarne

Source: Neurology. 86(4):391-398

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100036954578.0x000001&indx=1&recIds=ETOCvdc_100036954578.0x000001

The genetic basis of undiagnosed muscular dystrophies and myopathies

Authors: Savarese, Marco, Di Fruscio, Giuseppina, Torella, Annalaura, Fiorillo, Chiara, Magri, Francesca, Fanin, Marina, Ruggiero, Lucia, Ricci, Giulia, Astrea, Guja, Passamano, Luigia, Ruggieri, Alessandra, Ronchi, Dario, Tasca, Giorgio, D'Amico, Adele, Janssens, Sandra, Farina, Olimpia, Mutarelli, Margherita, Marwah, Veer Singh, Garofalo, Arcomaria, Giugliano, Teresa, Sanpaolo, Simone, Del Vecchio Blanco, Francesca, Esposito, Gaia, Piluso, Giulio, D'Ambrosio, Paola, Petillo, Roberta, Musumeci, Olimpia, Rodolico, Carmelo, Messina, Sonia, Evilä, Anni, Hackman, Peter, Filosto, Massimiliano, Di Iorio, Giuseppe, Siciliano, Gabriele, Mora, Marina, Maggi, Lorenzo, Minetti, Carlo, Sacconi, Sabrina, Santoro, Lucio, Claes, Kathleen, Vercelli, Liliana, Mongini, Tiziana, Ricci, Enzo, Gualandi, Francesca, Tupler, Rossella, De Bleecker, Jan, Udd, Bjarne, Toscano, Antonio, Moggio, Maurizio, Pegoraro, Elena, Bertini, Enrico, Mercuri, Eugenio, Angelini, Corrado, Santorelli, Filippo Maria, Politano, Luisa, Bruno, Claudio, Comi, Giacomo Pietro, Nigro, Vincenzo

Source: Neurology. 87(1):71-76

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100034041487.0x000001&indx=1&recIds=ETOCvdc_100034041487.0x000001

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

Authors: Bucelli, Robert C., Arhzaouy, Khalid, Pestronk, Alan, Pittman, Sara K., Rojas, Luisa, Sue, Carolyn M., Evilä, Anni, Hackman, Peter, Udd, Bjarne, Harms, Matthew B., Weihl, Conrad C.

Source: Neurology. 85(8):665-674

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100037117391.0x000001&indx=1&recIds=ETOCvdc_100037117391.0x000001

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TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

Authors: Lee, YouJin, Jonson, Per Harald, Sarparanta, Jaakko, Palmio, Johanna, Sarkar, Mohona, Vihola, Anna, Evilä, Anni, Suominen, Tiina, Penttilä, Sini, Savarese, Marco

Source: Journal of clinical investigation. 128(3):1164-1164

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN615041620&indx=1&recIds=ETOCRN615041620

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A Novel FLNC Frameshift and an OBSCN Variant in a Family with Distal Muscular Distrophy

Authors: Rossi, Daniela, Palmio, Johanna, Evilä, Anni, Lorenzini, Stefania, Lucia, Galli, Barone, Virginia, Caldwell, Tracy A., Polike, Rachel A., Esraa, Aldkheil, Christopher, Berndsen E., Wright, Nathan T., Hackmann, Peter, Eymard, Bruno, Udd, Bjarne, Sorrentino, Vincenzo

Source: In Biophysical Journal 2 February 2018 114(3) Supplement 1:136a-136a

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Isolated semitendinosus involvement in the initial stages of limb-girdle muscular dystrophy 2L

Authors: Tasca, Giorgio, Evilä, Anni, Pane, Marika, Monforte, Mauro, Graziano, Alessandra, Hackman, Peter, Mercuri, Eugenio, Udd, Bjarne

Source: In Neuromuscular Disorders December 2014 24(12):1118-1119

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy

Authors: Rudolf, Gabrielle, Suominen, Tiina, Penttilä, Sini, Hackman, Peter, Evilä, Anni, Lannes, Béatrice, Echaniz-Laguna, Andoni, Bierry, Guillaume, Tranchant, Christine, Udd, Bjarne

Source: Journal of Neuromuscular Diseases; May 2016, Vol. 3 Issue: 2 p275-281, 7p