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Sini Penttilä

Showing results (1-10 of 37) with videos related to

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Annals of Neurology|June 23, 2015
Reply: To PMID 25428574Manu Jokela, Sini Penttilä, Bjarne Udd
Neuromuscular Disorders : NMD|August 6, 2013
An unusual phenotype of late-onset desminopathyJohanna Palmio, Sini Penttilä, Sanna Huovinen, et al.
Journal of Neuromuscular Diseases|October 30, 2018
Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac HypertrophyManu Jokela, Peter Baumann, Sanna Huovinen, et al.
Duodecim; Laaketieteellinen Aikakauskirja|November 14, 2013
[The expanding spectrum of LGMD--recently discovered disease genes are important also in Finnish patients]Manu Jokela, Johanna Palmio, Satu Sandell, et al.
Duodecim; Laaketieteellinen Aikakauskirja|December 1, 2017
Distal myopathies in Finnish patientsJohanna Palmio, Manu Jokela, Satu Sandell, et al.
Clinical Case Reports|December 17, 2016
Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish familyJohanna Palmio, Mikko Kärppä, Peter Baumann, et al.
Neurology|March 24, 2017
Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in <i>SCN4A</i> geneJohanna Palmio, Satu Sandell, Michael G Hanna, et al.
Annals of Neurology|November 28, 2014
Late onset spinal motor neuronopathy is caused by mutation in CHCHD10Sini Penttilä, Manu Jokela, Heidi Bouquin, et al.
Neuromuscular Disorders : NMD|July 12, 2017
Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathyManu Jokela, Sanna Huovinen, Johanna Palmio, et al.
European Journal of Human Genetics : EJHG|April 27, 2012
Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2Sini Penttilä, Manu Jokela, Peter Hackman, et al.
Pageof 4

Showing results (1-10 of 37) with videos related to

Sort By:
Pageof 4
Annals of Neurology|June 23, 2015
Reply: To PMID 25428574Manu Jokela, Sini Penttilä, Bjarne Udd
Neuromuscular Disorders : NMD|August 6, 2013
An unusual phenotype of late-onset desminopathyJohanna Palmio, Sini Penttilä, Sanna Huovinen, et al.
Journal of Neuromuscular Diseases|October 30, 2018
Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac HypertrophyManu Jokela, Peter Baumann, Sanna Huovinen, et al.
Duodecim; Laaketieteellinen Aikakauskirja|November 14, 2013
[The expanding spectrum of LGMD--recently discovered disease genes are important also in Finnish patients]Manu Jokela, Johanna Palmio, Satu Sandell, et al.
Duodecim; Laaketieteellinen Aikakauskirja|December 1, 2017
Distal myopathies in Finnish patientsJohanna Palmio, Manu Jokela, Satu Sandell, et al.
Clinical Case Reports|December 17, 2016
Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish familyJohanna Palmio, Mikko Kärppä, Peter Baumann, et al.
Neurology|March 24, 2017
Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in <i>SCN4A</i> geneJohanna Palmio, Satu Sandell, Michael G Hanna, et al.
Annals of Neurology|November 28, 2014
Late onset spinal motor neuronopathy is caused by mutation in CHCHD10Sini Penttilä, Manu Jokela, Heidi Bouquin, et al.
Neuromuscular Disorders : NMD|July 12, 2017
Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathyManu Jokela, Sanna Huovinen, Johanna Palmio, et al.
European Journal of Human Genetics : EJHG|April 27, 2012
Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2Sini Penttilä, Manu Jokela, Peter Hackman, et al.
Pageof 4