Borderlines between Sarcopenia and Mild Late-Onset Muscle Disease

por Palmio, Johanna, Udd, Bjarne
Publicado 2014

Editorial: Current and Future Developments in the Therapeutic Management of Neuromuscular Diseases

por Papadimas, George K., Pons, Roser, Palmio, Johanna
Publicado 2022

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

Ubiquitin Carboxy-Terminal Hydrolase L1 (UCH-L1) is increased in cerebrospinal fluid and plasma of patients after epileptic seizure

por Mondello, Stefania, Palmio, Johanna, Streeter, Jackson, Hayes, Ronald L, Peltola, Jukka, Jeromin, Andreas
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

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

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

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy

por Sainio, Markus T., Ylikallio, Emil, Mäenpää, Laura, Lahtela, Jenni, Mattila, Pirkko, Auranen, Mari, Palmio, Johanna, Tyynismaa, Henna
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

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

Risk of vascular diseases in patients with dermatitis herpetiformis and coeliac disease: a long-term cohort study

por Nilsson, Noora, Leivo, Joonas, Collin, Pekka, Koskinen, Inka, Kaukinen, Katri, Huhtala, Heini, Palmio, Johanna, Reunala, Timo, Hervonen, Kaisa, Salmi, Teea, Pasternack, Camilla
Publicado 2023

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

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease

por Piirilä, Päivi, Similä, Minna E., Palmio, Johanna, Wuorimaa, Tomi, Ylikallio, Emil, Sandell, Satu, Haapalahti, Petri, Uotila, Lasse, Tyynismaa, Henna, Udd, Bjarne, Auranen, Mari
Publicado 2016

Myasthenic congenital myopathy from recessive mutations at a single residue in Na(V)1.4

por Elia, Nathaniel, Palmio, Johanna, Castañeda, Marisol Sampedro, Shieh, Perry B., Quinonez, Marbella, Suominen, Tiina, Hanna, Michael G., Männikkö, Roope, Udd, Bjarne, Cannon, Stephen C.
Publicado 2019

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

Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor Neurons

por Sainio, Markus T., Rasila, Tiina, Molchanova, Svetlana M., Järvilehto, Julius, Torregrosa-Muñumer, Rubén, Harjuhaahto, Sandra, Pennonen, Jana, Huber, Nadine, Herukka, Sanna-Kaisa, Haapasalo, Annakaisa, Zetterberg, Henrik, Taira, Tomi, Palmio, Johanna, Ylikallio, Emil, Tyynismaa, Henna
Publicado 2022

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

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

por Rossi, Daniela, Palmio, Johanna, Evilä, Anni, Galli, Lucia, Barone, Virginia, Caldwell, Tracy A., Policke, Rachel A., Aldkheil, Esraa, Berndsen, Christopher E., Wright, Nathan T., Malfatti, Edoardo, Brochier, Guy, Pierantozzi, Enrico, Jordanova, Albena, Guergueltcheva, Velina, Romero, Norma Beatriz, Hackman, Peter, Eymard, Bruno, Udd, Bjarne, Sorrentino, Vincenzo
Publicado 2017