Increasing Role of Titin Mutations in Neuromuscular Disorders

ανά Savarese, Marco, Sarparanta, Jaakko, Vihola, Anna, Udd, Bjarne, Hackman, Peter
Τόπος έκδοσης J Neuromuscul Dis (2016)

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

ανά Savarese, Marco, Välipakka, Salla, Johari, Mridul, Hackman, Peter, Udd, Bjarne
Τόπος έκδοσης J Neuromuscul Dis (2020)

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

ανά Penttilä, Sini, Jokela, Manu, Hackman, Peter, Maija Saukkonen, Anna, Toivanen, Jari, Udd, Bjarne
Έκδοση 2012

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

ανά Hirvonen, Katariina, Laivuori, Hannele, Lahti, Jari, Strandberg, Timo, Eriksson, Johan G., Hackman, Peter
Τόπος έκδοσης BMC Med Genet (2017)

The complexity of titin splicing pattern in human adult skeletal muscles

ανά Savarese, Marco, Jonson, Per Harald, Huovinen, Sanna, Paulin, Lars, Auvinen, Petri, Udd, Bjarne, Hackman, Peter
Τόπος έκδοσης Skelet Muscle (2018)

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

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

Panorama of the distal myopathies

ανά Savarese, Marco, Sarparanta, Jaakko, Vihola, Anna, Jonson, Per Harald, Johari, Mridul, Rusanen, Salla, Hackman, Peter, Udd, Bjarne
Τόπος έκδοσης Acta Myol (2020)

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

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

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

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

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

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

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

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

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

ανά 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.
Τόπος έκδοσης Neurology (2015)

Copy number variation analysis increases the diagnostic yield in muscle diseases

ανά 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
Τόπος έκδοσης Neurol Genet (2017)

Titin mutation segregates with hereditary myopathy with early respiratory failure

ανά 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.
Έκδοση 2012

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

ανά 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
Έκδοση 2005

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

ανά 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
Έκδοση 2012

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

ανά 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
Τόπος έκδοσης PLoS One (2017)

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

ανά 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
Τόπος έκδοσης Neurology (2016)

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

ανά 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
Τόπος έκδοσης J Neurol (2019)

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

ανά 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
Τόπος έκδοσης Acta Neuropathol (2021)