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

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

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

Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11

por Johari, Mridul, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sophia, Kanavaki, Aikaterini, Chrysanthou‐Piterou, Margarita, Rusanen, Salla, Savarese, Marco, Hackman, Peter, Udd, Bjarne
Publicado 2022

Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report

por Pelin, Katarina, Sagath, Lydia, Lehtonen, Johanna, Kiiski, Kirsi, Tynninen, Olli, Paetau, Anders, Johari, Mridul, Savarese, Marco, Wallgren-Pettersson, Carina, Lehtokari, Vilma-Lotta
Publicado 2023

Extension of the DNAJB2a isoform in a dominant neuromyopathy family

por Sarparanta, Jaakko, Jonson, Per Harald, Reimann, Jens, Vihola, Anna, Luque, Helena, Penttilä, Sini, Johari, Mridul, Savarese, Marco, Hackman, Peter, Kornblum, Cornelia, Udd, Bjarne
Publicado 2023

Copy number variation analysis increases the diagnostic yield in muscle diseases

por Välipakka, Salla, Savarese, Marco, Johari, Mridul, Sagath, Lydia, Arumilli, Meharji, Kiiski, Kirsi, Sáenz, Amets, Lopez de Munain, Adolfo, Cobo, Ana-Maria, Pelin, Katarina, Udd, Bjarne, Hackman, Peter
Publicado 2017

Mutation update for the ACTN2 gene

por Ranta‐aho, Johanna, Olive, Montse, Vandroux, Marie, Roticiani, Giorgia, Dominguez, Cristina, Johari, Mridul, Torella, Annalaura, Böhm, Johann, Turon, Janina, Nigro, Vincenzo, Hackman, Peter, Laporte, Jocelyn, Udd, Bjarne, Savarese, Marco
Publicado 2022

The European Society of Human Genetics—Young committee- activities and achievements between 2019–2022

por Avram, Elena, Ding, Can, de Miranda Cerqueira, Juliana Xavier, Johari, Mridul, da Silva, Ana Raquel Gouveia Freitas, Săbău, Ileana-Delia, Noor, Nuru, Kalantari, Silvia, Dore, Rhys, Barbosa-Matos, Rita, Mroczek, Magdalena, Tonini, Francesca
Publicado 2023

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene

por Hackman, Peter, Rusanen, Salla M., Johari, Mridul, Vihola, Anna, Jonson, Per Harald, Sarparanta, Jaakko, Donner, Kati, Lahermo, Päivi, Koivunen, Sampo, Luque, Helena, Soininen, Merja, Mahjneh, Ibrahim, Auranen, Mari, Arumilli, Meharji, Savarese, Marco, Udd, Bjarne
Publicado 2021

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

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