Increasing Role of Titin Mutations in Neuromuscular Disorders

بواسطة Savarese, Marco, Sarparanta, Jaakko, Vihola, Anna, Udd, Bjarne, Hackman, Peter
الحاوية / القاعدة J Neuromuscul Dis (2016)

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

بواسطة Savarese, Marco, Välipakka, Salla, Johari, Mridul, Hackman, Peter, Udd, Bjarne
الحاوية / القاعدة J Neuromuscul Dis (2020)

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

بواسطة Penttilä, Sini, Jokela, Manu, Hackman, Peter, Maija Saukkonen, Anna, Toivanen, Jari, Udd, Bjarne
منشور في 2012

SIRT6 polymorphism rs117385980 is associated with longevity and healthy aging in Finnish men

بواسطة Hirvonen, Katariina, Laivuori, Hannele, Lahti, Jari, Strandberg, Timo, Eriksson, Johan G., Hackman, Peter
الحاوية / القاعدة BMC Med Genet (2017)

The complexity of titin splicing pattern in human adult skeletal muscles

بواسطة Savarese, Marco, Jonson, Per Harald, Huovinen, Sanna, Paulin, Lars, Auvinen, Petri, Udd, Bjarne, Hackman, Peter
الحاوية / القاعدة Skelet Muscle (2018)

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

بواسطة Screen, Mark, Raheem, Olayinka, Holmlund-Hampf, Jeanette, Jonson, Per Harald, Huovinen, Sanna, Hackman, Peter, Udd, Bjarne
منشور في 2014

Panorama of the distal myopathies

بواسطة Savarese, Marco, Sarparanta, Jaakko, Vihola, Anna, Jonson, Per Harald, Johari, Mridul, Rusanen, Salla, Hackman, Peter, Udd, Bjarne
الحاوية / القاعدة Acta Myol (2020)

Interactions with M-band Titin and Calpain 3 Link Myospryn (CMYA5) to Tibial and Limb-girdle Muscular Dystrophies

بواسطة Sarparanta, Jaakko, Blandin, Gaëlle, Charton, Karine, Vihola, Anna, Marchand, Sylvie, Milic, Astrid, Hackman, Peter, Ehler, Elisabeth, Richard, Isabelle, Udd, Bjarne
منشور في 2010

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

بواسطة Suominen, Tiina, Bachinski, Linda L, Auvinen, Satu, Hackman, Peter, Baggerly, Keith A, Angelini, Corrado, Peltonen, Leena, Krahe, Ralf, Udd, Bjarne
منشور في 2011

Abnormal Splicing of NEDD4 in Myotonic Dystrophy Type 2: Possible Link to Statin Adverse Reactions

بواسطة Screen, Mark, Jonson, Per Harald, Raheem, Olayinka, Palmio, Johanna, Laaksonen, Reijo, Lehtimäki, Terho, Sirito, Mario, Krahe, Ralf, Hackman, Peter, Udd, Bjarne
منشور في 2014

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

بواسطة Hackman, Peter, Vihola, Anna, Haravuori, Henna, Marchand, Sylvie, Sarparanta, Jaakko, de Seze, Jerome, Labeit, Siegfried, Witt, Christian, Peltonen, Leena, Richard, Isabelle, Udd, Bjarne
منشور في 2002

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

بواسطة Bucelli, Robert C., Arhzaouy, Khalid, Pestronk, Alan, Pittman, Sara K., Rojas, Luisa, Sue, Carolyn M., Evilä, Anni, Hackman, Peter, Udd, Bjarne, Harms, Matthew B., Weihl, Conrad C.
الحاوية / القاعدة Neurology (2015)

Copy number variation analysis increases the diagnostic yield in muscle diseases

بواسطة 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
الحاوية / القاعدة Neurol Genet (2017)

Titin mutation segregates with hereditary myopathy with early respiratory failure

بواسطة Pfeffer, Gerald, Elliott, Hannah R., Griffin, Helen, Barresi, Rita, Miller, James, Marsh, Julie, Evilä, Anni, Vihola, Anna, Hackman, Peter, Straub, Volker, Dick, David J., Horvath, Rita, Santibanez-Koref, Mauro, Udd, Bjarne, Chinnery, Patrick F.
منشور في 2012

Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin

بواسطة Hakonen, Anna H., Heiskanen, Silja, Juvonen, Vesa, Lappalainen, Ilse, Luoma, Petri T., Rantamäki, Maria, Goethem, Gert Van, Löfgren, Ann, Hackman, Peter, Paetau, Anders, Kaakkola, Seppo, Majamaa, Kari, Varilo, Teppo, Udd, Bjarne, Kääriäinen, Helena, Bindoff, Laurence A., Suomalainen, Anu
منشور في 2005

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

بواسطة 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
منشور في 2012

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

بواسطة 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
الحاوية / القاعدة PLoS One (2017)

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

بواسطة Ghaoui, Roula, Palmio, Johanna, Brewer, Janice, Lek, Monkol, Needham, Merrilee, Evilä, Anni, Hackman, Peter, Jonson, Per-Harald, Penttilä, Sini, Vihola, Anna, Huovinen, Sanna, Lindfors, Mikaela, Davis, Ryan L., Waddell, Leigh, Kaur, Simran, Yiannikas, Con, North, Kathryn, Clarke, Nigel, MacArthur, Daniel G., Sue, Carolyn M., Udd, Bjarne
الحاوية / القاعدة Neurology (2016)

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

بواسطة Palmio, Johanna, Leonard-Louis, Sarah, Sacconi, Sabrina, Savarese, Marco, Penttilä, Sini, Semmler, Anna-Lena, Kress, Wolfram, Mozaffar, Tahseen, Lai, Tim, Stojkovic, Tanya, Berardo, Andres, Reisin, Ricardo, Attarian, Shahram, Urtizberea, Andoni, Cobo, Ana Maria, Maggi, Lorenzo, Kurbatov, Sergei, Nikitin, Sergei, Milisenda, José C., Fatehi, Farzad, Raimondi, Monika, Silveira, Fernando, Hackman, Peter, Claeys, Kristl G., Udd, Bjarne
الحاوية / القاعدة J Neurol (2019)

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

بواسطة 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
الحاوية / القاعدة Acta Neuropathol (2021)