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

Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model

Authors: Välipakka, Salla, Savarese, Marco, Sagath, Lydia, Arumilli, Meharji, Giugliano, Teresa, Udd, Bjarne, Hackman, Peter

Source: In The Journal of Molecular Diagnostics January 2020 22(1):40-49

Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin

Authors: Sagath, Lydia, Lehtokari, Vilma-Lotta, Välipakka, Salla, Vihola, Anna, Gardberg, Maria, Hackman, Peter, Pelin, Katarina, Jokela, Manu, Kiiski, Kirsi, Udd, Bjarne, Wallgren-Pettersson, Carina

Source: In Neuromuscular Disorders June 2021 31(6):539-545

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

Authors: Savarese, Marco, Välipakka, Salla, Johari, Mridul, Hackman, Peter, Udd, Bjarne

Source: Journal of Neuromuscular Diseases; June 2020, Vol. 7 Issue: 3 p203-216, 14p

This result is not displayed to guests.
Login for full access.

MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

Authors: Kämpjärvi, Kati, Mäkinen, Netta, Mehine, Miika, Välipakka, Salla, Uimari, Outi, Pitkänen, Esa, Heinonen, Hanna-Riikka, Heikkinen, Tuomas, Tolvanen, Jaana, Ahtikoski, Anne, Frizzell, Norma, Sarvilinna, Nanna, Sjöberg, Jari, Bützow, Ralf, Aaltonen, Lauri A, Vahteristo, Pia, Kämpjärvi, Kati, Mäkinen, Netta, Välipakka, Salla, Pitkänen, Esa

Source: British Journal of Cancer; 6/14/2016, Vol. 114 Issue 12, p1405-1411, 7p, 1 Color Photograph, 2 Diagrams, 1 Chart

Subject Terms: ENZYME metabolism, BIOCHEMISTRY, CARRIER proteins, IMMUNOHISTOCHEMISTRY, PHENOMENOLOGY, GENETIC mutation, RESEARCH funding, UTERINE fibroids, UTERINE tumors, GENE expression profiling

An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy.

Authors: Jokela, Manu, Tasca, Giorgio, Vihola, Anna, Mercuri, Eugenio, Jonson, Per-Harald, Lehtinen, Sara, Välipakka, Salla, Pane, Marika, Donati, Maria, Johari, Mridul, Savarese, Marco, Huovinen, Sanna, Isohanni, Pirjo, Palmio, Johanna, Hartikainen, Päivi, Udd, Bjarne

Source: Neurology; 4/2/2019, Vol. 92 Issue 14, pe1600-e1609, 10p

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.

Authors: Sainio, Markus T.¹, Välipakka, Salla², Rinaldi, Bruno³, Lapatto, Helena¹, Paetau, Anders⁴, Ojanen, Simo¹, Brilhante, Virginia¹, Jokela, Manu^5,6, Huovinen, Sanna⁷, Auranen, Mari⁸, Palmio, Johanna⁶, Friant, Sylvie³, Ylikallio, Emil^1,8, Udd, Bjarne^6,9, Tyynismaa, Henna^1,10 henna.tyynismaa@helsinki.fi

Source: Journal of Neurology. Feb2019, Vol. 266 Issue 2, p353-360. 8p. 1 Color Photograph, 2 Diagrams, 1 Chart.

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

Authors: Sagath, Lydia, Lehtokari, Vilma-Lotta, Välipakka, Salla, Udd, Bjarne, Wallgren-Pettersson, Carina, Pelin, Katarina, Kiiski, Kirsi

Source: Journal of Neuromuscular Diseases; August 2018, Vol. 5 Issue: 3 p307-314, 8p