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Peter Hackman

Showing results (41-50 of 82) with videos related to

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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|October 25, 2008
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)Peter Hackman, Sylvie Marchand, Jaakko Sarparanta, et al.
Journal of Neurology|November 14, 2009
The first Italian family with tibial muscular dystrophy caused by a novel titin mutationMarzia Pollazzon, Tiina Suominen, Sini Penttilä, 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.
Journal of Neurology|November 28, 2025
Characterization of novel CASQ1 variants in two families with unusual phenotypic featuresMilla Laarne, Manu Jokela, Fang Zhao, et al.
Neurology. Genetics|September 22, 2018
Copy number variation analysis increases the diagnostic yield in muscle diseasesSalla Välipakka, Marco Savarese, Mridul Johari, et al.
Neurology|July 26, 2015
SQSTM1 splice site mutation in distal myopathy with rimmed vacuolesRobert C Bucelli, Khalid Arhzaouy, Alan Pestronk, et al.
Journal of Neuromuscular Diseases|June 30, 2020
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio)Marco Savarese, Talha Qureshi, Annalaura Torella, 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.
European Journal of Neurology|November 17, 2025
Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern EuropeVeronica Sian, Maria Francesca Di Feo, Sergei Kurbatov, et al.
Pageof 9

Showing results (41-50 of 82) with videos related to

Sort By:
Pageof 9
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|October 25, 2008
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)Peter Hackman, Sylvie Marchand, Jaakko Sarparanta, et al.
Journal of Neurology|November 14, 2009
The first Italian family with tibial muscular dystrophy caused by a novel titin mutationMarzia Pollazzon, Tiina Suominen, Sini Penttilä, 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.
Journal of Neurology|November 28, 2025
Characterization of novel CASQ1 variants in two families with unusual phenotypic featuresMilla Laarne, Manu Jokela, Fang Zhao, et al.
Neurology. Genetics|September 22, 2018
Copy number variation analysis increases the diagnostic yield in muscle diseasesSalla Välipakka, Marco Savarese, Mridul Johari, et al.
Neurology|July 26, 2015
SQSTM1 splice site mutation in distal myopathy with rimmed vacuolesRobert C Bucelli, Khalid Arhzaouy, Alan Pestronk, et al.
Journal of Neuromuscular Diseases|June 30, 2020
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio)Marco Savarese, Talha Qureshi, Annalaura Torella, 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.
European Journal of Neurology|November 17, 2025
Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern EuropeVeronica Sian, Maria Francesca Di Feo, Sergei Kurbatov, et al.
Pageof 9