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

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

Cranioplasty with Adipose‐Derived Stem Cells, Beta‐Tricalcium Phosphate Granules and Supporting Mesh: Six‐Year Clinical Follow‐Up Results

por Thesleff, Tuomo, Lehtimäki, Kai, Niskakangas, Tero, Huovinen, Sanna, Mannerström, Bettina, Miettinen, Susanna, Seppänen‐Kaijansinkko, Riitta, Öhman, Juha
Publicado 2017

Length of prostate biopsies is not necessarily compromised by pooling multiple cores in one paraffin block: an observational study

por Tolonen, Teemu T, Isola, Jorma, Kaipia, Antti, Riikonen, Jarno, Koivusalo, Laura, Huovinen, Sanna, Laurila, Marita, Porre, Sinikka, Tirkkonen, Mika, Kujala, Paula
Publicado 2015

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

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry

por Auranen, Mari, Palmio, Johanna, Ylikallio, Emil, Huovinen, Sanna, Paetau, Anders, Sandell, Satu, Haapasalo, Hannu, Viitaniemi, Kati, Piirilä, Päivi, Tyynismaa, Henna, Udd, Bjarne
Publicado 2015

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

por Sainio, Markus T., Välipakka, Salla, Rinaldi, Bruno, Lapatto, Helena, Paetau, Anders, Ojanen, Simo, Brilhante, Virginia, Jokela, Manu, Huovinen, Sanna, Auranen, Mari, Palmio, Johanna, Friant, Sylvie, Ylikallio, Emil, Udd, Bjarne, Tyynismaa, Henna
Publicado 2018

Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness

por Savarese, Marco, Vihola, Anna, Jokela, Manu E., Huovinen, Sanna Pauliina, Gerevini, Simonetta, Torella, Annalaura, Johari, Mridul, Scarlato, Marina, Jonson, Per Harald, Onore, Maria Elena, Hackman, Peter, Gautel, Mathias, Nigro, Vincenzo, Previtali, Stefano Carlo, Udd, Bjarne
Publicado 2021

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

por Sarparanta, Jaakko, Jonson, Per Harald, Golzio, Christelle, Sandell, Satu, Luque, Helena, Screen, Mark, McDonald, Kristin, Stajich, Jeffrey M., Mahjneh, Ibrahim, Vihola, Anna, Raheem, Olayinka, Penttilä, Sini, Lehtinen, Sara, Huovinen, Sanna, Palmio, Johanna, Tasca, Giorgio, Ricci, Enzo, Hackman, Peter, Hauser, Michael, Katsanis, Nicholas, Udd, Bjarne
Publicado 2012

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

por Ranu, Natasha, Laitila, Jenni, Dugdale, Hannah F., Mariano, Jennifer, Kolb, Justin S., Wallgren-Pettersson, Carina, Witting, Nanna, Vissing, John, Vilchez, Juan Jesus, Fiorillo, Chiara, Zanoteli, Edmar, Auranen, Mari, Jokela, Manu, Tasca, Giorgio, Claeys, Kristl G., Voermans, Nicol C., Palmio, Johanna, Huovinen, Sanna, Moggio, Maurizio, Beck, Thomas Nyegaard, Kontrogianni-Konstantopoulos, Aikaterini, Granzier, Henk, Ochala, Julien
Publicado 2022

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

por Johari, Mridul, Sarparanta, Jaakko, Vihola, Anna, Jonson, Per Harald, Savarese, Marco, Jokela, Manu, Torella, Annalaura, Piluso, Giulio, Said, Edith, Vella, Norbert, Cauchi, Marija, Magot, Armelle, Magri, Francesca, Mauri, Eleonora, Kornblum, Cornelia, Reimann, Jens, Stojkovic, Tanya, Romero, Norma B., Luque, Helena, Huovinen, Sanna, Lahermo, Päivi, Donner, Kati, Comi, Giacomo Pietro, Nigro, Vincenzo, Hackman, Peter, Udd, Bjarne
Publicado 2021