Borderlines between Sarcopenia and Mild Late-Onset Muscle Disease

著者: Palmio, Johanna, Udd, Bjarne
出版事項 2014

234(th) ENMC International Workshop: Chaperone dysfunction in muscle disease December 8-10th 2017, Naarden, Netherlands

著者: Weihl, Conrad C., Udd, Bjarne, Hanna, Michael
出版年 Neuromuscul Disord (2018)

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

著者: Lange, Stephan, Edström, Lars, Udd, Bjarne, Gautel, Mathias
出版事項 2014

When myopathy breaks the rules: a late-onset distal presentation

著者: Newby, Rachel, Jamieson, Stuart, Udd, Bjarne, Alty, Jane
出版年 BMJ Case Rep (2015)

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results

著者: Sarparanta, Jaakko, Jonson, Per Harald, Kawan, Sabita, Udd, Bjarne
出版年 Int J Mol Sci (2020)

Clinical utility gene card for: Laing distal myopathy

著者: Lamont, Phillipa, Wallefeld, William, Davis, Mark, Udd, Bjarne, Laing, Nigel
出版事項 2011

Increasing Role of Titin Mutations in Neuromuscular Disorders

著者: Savarese, Marco, Sarparanta, Jaakko, Vihola, Anna, Udd, Bjarne, Hackman, Peter
出版年 J Neuromuscul Dis (2016)

Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?

著者: Savarese, Marco, Välipakka, Salla, Johari, Mridul, Hackman, Peter, Udd, Bjarne
出版年 J Neuromuscul Dis (2020)

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family

著者: Palmio, Johanna, Kärppä, Mikko, Baumann, Peter, Penttilä, Sini, Moilanen, Jukka, Udd, Bjarne
出版年 Clin Case Rep (2016)

Myotonic Dystrophy Type 2 Found in Two of Sixty-Three Persons Diagnosed as Having Fibromyalgia

著者: Auvinen, Satu, Suominen, Tiina, Hannonen, Pekka, Bachinski, Linda L., Krahe, Ralf, Udd, Bjarne
出版事項 2008

TARDBP mutations are not a frequent cause of ALS in Finnish patients

著者: MENTULA, HANNA-KAISA, TUOVINEN, LAURA, PENTTILÄ, SINI, SUOMINEN, TIINA, UDD, BJARNE, PALMIO, JOHANNA
出版事項 2012

Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2

著者: Penttilä, Sini, Jokela, Manu, Hackman, Peter, Maija Saukkonen, Anna, Toivanen, Jari, Udd, Bjarne
出版事項 2012

Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene

著者: Palmio, Johanna, Sandell, Satu, Hanna, Michael G., Männikkö, Roope, Penttilä, Sini, Udd, Bjarne
出版年 Neurology (2017)

ALTERED MEF2 ISOFORMS IN MYOTONIC DYSTROPHY AND OTHER NEUROMUSCULAR DISORDERS

著者: BACHINSKI, LINDA L., SIRITO, MARIO, BÖHME, MARIA, BAGGERLY, KEITH A., UDD, BJARNE, KRAHE, RALF
出版事項 2010

Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

著者: Jokela, Manu, Huovinen, Sanna, Raheem, Olayinka, Lindfors, Mikaela, Palmio, Johanna, Penttilä, Sini, Udd, Bjarne
出版年 PLoS One (2016)

Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation

著者: Alvarez, Valeria Carolina, Penttilä, Sini Tellervo, Salutto, Valeria Luján, Udd, Bjarne, Mazia, Claudio Gabriel
出版年 Neurol Genet (2016)

ZNF9 Activation of IRES-Mediated Translation of the Human ODC mRNA Is Decreased in Myotonic Dystrophy Type 2

著者: Sammons, Morgan A., Antons, Amanda K., Bendjennat, Mourad, Udd, Bjarne, Krahe, Ralf, Link, Andrew J.
出版事項 2010

The complexity of titin splicing pattern in human adult skeletal muscles

著者: Savarese, Marco, Jonson, Per Harald, Huovinen, Sanna, Paulin, Lars, Auvinen, Petri, Udd, Bjarne, Hackman, Peter
出版年 Skelet Muscle (2018)

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

著者: Jokela, Manu, Lehtinen, Sara, Palmio, Johanna, Saukkonen, Anna-Maija, Huovinen, Sanna, Vihola, Anna, Udd, Bjarne
出版年 J Neurol (2019)

Gene Expression Profiling in Tibial Muscular Dystrophy Reveals Unfolded Protein Response and Altered Autophagy

著者: Screen, Mark, Raheem, Olayinka, Holmlund-Hampf, Jeanette, Jonson, Per Harald, Huovinen, Sanna, Hackman, Peter, Udd, Bjarne
出版事項 2014