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Anni Evilä

Showing results (1-10 of 16) with videos related to

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Neuromuscular Disorders : NMD|December 3, 2015
Targeted next-generation sequencing assay for detection of mutations in primary myopathiesAnni Evilä, Meharji Arumilli, Bjarne Udd, et al.
Journal of Neuromuscular Diseases|November 18, 2016
Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular DystrophyGabrielle Rudolf, Tiina Suominen, Sini Penttilä, et al.
Neurology|July 26, 2015
SQSTM1 splice site mutation in distal myopathy with rimmed vacuolesRobert C Bucelli, Khalid Arhzaouy, Alan Pestronk, et al.
Neuromuscular Disorders : NMD|September 5, 2015
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D diseaseJohanna Palmio, Per Harald Jonson, Anni Evilä, et al.
Neuromuscular Disorders : NMD|July 19, 2017
A 'second truncation' in TTN causes early onset recessive muscular dystrophyElizabeth Harris, Ana Töpf, Anna Vihola, et al.
Annals of Neurology|February 13, 2013
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1Peter Hackman, Jaakko Sarparanta, Sara Lehtinen, et al.
Brain : a Journal of Neurology|May 12, 2012
Titin mutation segregates with hereditary myopathy with early respiratory failureGerald Pfeffer, Hannah R Elliott, Helen Griffin, et al.
Molecular Neurobiology|November 1, 2016
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal TitinopathyAnni Evilä, Johanna Palmio, Anna Vihola, et al.
Annals of Neurology|January 8, 2014
Atypical phenotypes in titinopathies explained by second titin mutationsAnni Evilä, Anna Vihola, Jaakko Sarparanta, et al.
Plos One|October 27, 2017
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophyDaniela Rossi, Johanna Palmio, Anni Evilä, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
Neuromuscular Disorders : NMD|December 3, 2015
Targeted next-generation sequencing assay for detection of mutations in primary myopathiesAnni Evilä, Meharji Arumilli, Bjarne Udd, et al.
Journal of Neuromuscular Diseases|November 18, 2016
Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular DystrophyGabrielle Rudolf, Tiina Suominen, Sini Penttilä, et al.
Neurology|July 26, 2015
SQSTM1 splice site mutation in distal myopathy with rimmed vacuolesRobert C Bucelli, Khalid Arhzaouy, Alan Pestronk, et al.
Neuromuscular Disorders : NMD|September 5, 2015
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D diseaseJohanna Palmio, Per Harald Jonson, Anni Evilä, et al.
Neuromuscular Disorders : NMD|July 19, 2017
A 'second truncation' in TTN causes early onset recessive muscular dystrophyElizabeth Harris, Ana Töpf, Anna Vihola, et al.
Annals of Neurology|February 13, 2013
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1Peter Hackman, Jaakko Sarparanta, Sara Lehtinen, et al.
Brain : a Journal of Neurology|May 12, 2012
Titin mutation segregates with hereditary myopathy with early respiratory failureGerald Pfeffer, Hannah R Elliott, Helen Griffin, et al.
Molecular Neurobiology|November 1, 2016
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal TitinopathyAnni Evilä, Johanna Palmio, Anna Vihola, et al.
Annals of Neurology|January 8, 2014
Atypical phenotypes in titinopathies explained by second titin mutationsAnni Evilä, Anna Vihola, Jaakko Sarparanta, et al.
Plos One|October 27, 2017
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophyDaniela Rossi, Johanna Palmio, Anni Evilä, et al.
Pageof 2