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Anna Vihola

Showing results (31-40 of 50) with videos related to

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Neurology. Genetics|November 1, 2021
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> GenePeter Hackman, Salla M Rusanen, Mridul Johari, et al.
Neuromuscular Disorders : NMD|January 21, 2020
Mutations in the J domain of DNAJB6 cause dominant distal myopathyJohanna Palmio, Per Harald Jonson, Michio Inoue, et al.
Acta Neuropathologica|January 13, 2010
Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2Anna Vihola, Linda L Bachinski, Mario Sirito, 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.
Science (New York, N.Y.)|April 2, 2005
The kinase domain of titin controls muscle gene expression and protein turnoverStephan Lange, Fengqing Xiang, Andrey Yakovenko, et al.
Annals of Neurology|January 8, 2014
Atypical phenotypes in titinopathies explained by second titin mutationsAnni Evilä, Anna Vihola, Jaakko Sarparanta, et al.
Neurology|November 20, 2015
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathyRafael De Cid, Rabah Ben Yaou, Carinne Roudaut, et al.
Nature Genetics|February 28, 2012
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophyJaakko Sarparanta, Per Harald Jonson, Christelle Golzio, et al.
Neurology|January 1, 2016
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyRoula Ghaoui, Johanna Palmio, Janice Brewer, et al.
Neurobiology of Disease|August 10, 2018
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseasesEmmanuelle C Genin, Sylvie Bannwarth, Françoise Lespinasse, et al.
Pageof 5

Showing results (31-40 of 50) with videos related to

Sort By:
Pageof 5
Neurology. Genetics|November 1, 2021
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> GenePeter Hackman, Salla M Rusanen, Mridul Johari, et al.
Neuromuscular Disorders : NMD|January 21, 2020
Mutations in the J domain of DNAJB6 cause dominant distal myopathyJohanna Palmio, Per Harald Jonson, Michio Inoue, et al.
Acta Neuropathologica|January 13, 2010
Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2Anna Vihola, Linda L Bachinski, Mario Sirito, 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.
Science (New York, N.Y.)|April 2, 2005
The kinase domain of titin controls muscle gene expression and protein turnoverStephan Lange, Fengqing Xiang, Andrey Yakovenko, et al.
Annals of Neurology|January 8, 2014
Atypical phenotypes in titinopathies explained by second titin mutationsAnni Evilä, Anna Vihola, Jaakko Sarparanta, et al.
Neurology|November 20, 2015
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathyRafael De Cid, Rabah Ben Yaou, Carinne Roudaut, et al.
Nature Genetics|February 28, 2012
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophyJaakko Sarparanta, Per Harald Jonson, Christelle Golzio, et al.
Neurology|January 1, 2016
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyRoula Ghaoui, Johanna Palmio, Janice Brewer, et al.
Neurobiology of Disease|August 10, 2018
Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseasesEmmanuelle C Genin, Sylvie Bannwarth, Françoise Lespinasse, et al.
Pageof 5