Borderlines between Sarcopenia and Mild Late-Onset Muscle Disease

por Palmio, Johanna, Udd, Bjarne
Publicado 2014

Use of animal models to understand titin physiology and pathology

por Marcello, Matteo, Cetrangolo, Viviana, Savarese, Marco, Udd, Bjarne
Publicado 2022

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

por Sarparanta, Jaakko, Jonson, Per Harald, Kawan, Sabita, Udd, Bjarne
Publicado 2020

Increasing Role of Titin Mutations in Neuromuscular Disorders

por Savarese, Marco, Sarparanta, Jaakko, Vihola, Anna, Udd, Bjarne, Hackman, Peter
Publicado 2016

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

por Savarese, Marco, Välipakka, Salla, Johari, Mridul, Hackman, Peter, Udd, Bjarne
Publicado 2020

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

por Palmio, Johanna, Kärppä, Mikko, Baumann, Peter, Penttilä, Sini, Moilanen, Jukka, Udd, Bjarne
Publicado 2016

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

por MENTULA, HANNA-KAISA, TUOVINEN, LAURA, PENTTILÄ, SINI, SUOMINEN, TIINA, UDD, BJARNE, PALMIO, JOHANNA
Publicado 2012

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

por Palmio, Johanna, Sandell, Satu, Hanna, Michael G., Männikkö, Roope, Penttilä, Sini, Udd, Bjarne
Publicado 2017

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

por Jokela, Manu, Huovinen, Sanna, Raheem, Olayinka, Lindfors, Mikaela, Palmio, Johanna, Penttilä, Sini, Udd, Bjarne
Publicado 2016

Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation

por Alvarez, Valeria Carolina, Penttilä, Sini Tellervo, Salutto, Valeria Luján, Udd, Bjarne, Mazia, Claudio Gabriel
Publicado 2016

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

por Sammons, Morgan A., Antons, Amanda K., Bendjennat, Mourad, Udd, Bjarne, Krahe, Ralf, Link, Andrew J.
Publicado 2010

The complexity of titin splicing pattern in human adult skeletal muscles

por Savarese, Marco, Jonson, Per Harald, Huovinen, Sanna, Paulin, Lars, Auvinen, Petri, Udd, Bjarne, Hackman, Peter
Publicado 2018

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

por Jokela, Manu, Lehtinen, Sara, Palmio, Johanna, Saukkonen, Anna-Maija, Huovinen, Sanna, Vihola, Anna, Udd, Bjarne
Publicado 2019

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

por Screen, Mark, Raheem, Olayinka, Holmlund-Hampf, Jeanette, Jonson, Per Harald, Huovinen, Sanna, Hackman, Peter, Udd, Bjarne
Publicado 2014

Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D

por Sandell, Satu, Huovinen, Sanna, Palmio, Johanna, Raheem, Olayinka, Lindfors, Mikaela, Zhao, Fang, Haapasalo, Hannu, Udd, Bjarne
Publicado 2016

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

por Sagath, Lydia, Lehtokari, Vilma-Lotta, Välipakka, Salla, Udd, Bjarne, Wallgren-Pettersson, Carina, Pelin, Katarina, Kiiski, Kirsi
Publicado 2018

Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression

por Vihola, Anna, Palmio, Johanna, Danielsson, Olof, Penttilä, Sini, Louiselle, Daniel, Pittman, Sara, Weihl, Conrad, Udd, Bjarne
Publicado 2019

Panorama of the distal myopathies

por Savarese, Marco, Sarparanta, Jaakko, Vihola, Anna, Jonson, Per Harald, Johari, Mridul, Rusanen, Salla, Hackman, Peter, Udd, Bjarne
Publicado 2020

New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy

por Al-Tahan, Sejad, Weiss, Lan, Yu, Howard, Tang, Sha, Saporta, Mario, Vihola, Anna, Mozaffar, Tahseen, Udd, Bjarne, Kimonis, Virginia
Publicado 2019

Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis

por Johari, Mridul, Vihola, Anna, Palmio, Johanna, Jokela, Manu, Jonson, Per Harald, Sarparanta, Jaakko, Huovinen, Sanna, Savarese, Marco, Hackman, Peter, Udd, Bjarne
Publicado 2022