Genotype–phenotype correlations in recessive titinopathies

Authors: Savarese, Marco, Vihola, Anna, Oates, Emily C., Barresi, Rita, Fiorillo, Chiara, Tasca, Giorgio, Jokela, Manu, Sarkozy, Anna, Luo, Sushan, Díaz-Manera, Jordi, Ehrstedt, Christoffer, Rojas-García, Ricardo, Sáenz, Amets, Muelas, Nuria, Lonardo, Fortunato, Fodstad, Heidi, Qureshi, Talha, Johari, Mridul, Välipakka, Salla, Luque, Helena, Petiot, Philippe, de Munain, Adolfo López, Pane, Marika, Mercuri, Eugenio, Torella, Annalaura, Nigro, Vincenzo, Astrea, Guja, Santorelli, Filippo Maria, Bruno, Claudio, Kuntzer, Thierry, Illa, Isabel, Vílchez, Juan J., Julien, Cedric, Ferreiro, Ana, Malandrini, Alessandro, Zhao, Chong-Bo, Casar-Borota, Olivera, Davis, Mark, Muntoni, Francesco, Hackman, Peter, Udd, Bjarne

Source: In Genetics in Medicine December 2020 22(12):2029-2040

Extension of the DNAJB2a isoform in a dominant neuromyopathy family.

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

Source: Human Molecular Genetics; Nov2023, Vol. 32 Issue 21, p3029-3039, 11p

Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus

Authors: Hackman, Peter, Sandell, Satu, Sarparanta, Jaakko, Luque, Helena, Huovinen, Sanna, Palmio, Johanna, Paetau, Anders, Kalimo, Hannu, Mahjneh, Ibrahim, Udd, Bjarne

Source: In Neuromuscular Disorders 2011 21(5):338-344

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

Authors: 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

Source: Acta Neuropathologica; Aug2021, Vol. 142 Issue 2, p375-393, 19p

Subject Terms: MUSCLE proteins, MISSENSE mutation, NEMALINE myopathy, NUCLEOTIDE sequencing, MUSCLE diseases, MUSCLE weakness, FATTY degeneration

Geographic Terms: FRANCE

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