Mutation update for the ACTN2 gene
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
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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Journal Article
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation
Ranta-Aho, Johanna, Felice, Kevin J, Jonson, Per Harald, Sarparanta, Jaakko, Yvorel, Cédric, Harzallah, Ines, Touraine, Renaud, Pais, Lynn, Austin-Tse, Christina A, Ganesh, Vijay S, O'Leary, Melanie C, Rehm, Heidi L, Hehir, Michael K, Subramony, Sub, Wu, Qian, Udd, Bjarne, Savarese, Marco
Published in Annals of clinical and translational neurology (02.08.2024)
Published in Annals of clinical and translational neurology (02.08.2024)
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Journal Article
Constructing a sense of home in floating support for people using drugs
Ranta, Johanna, Juhila, Kirsi
Published in Qualitative social work : QSW : research and practice (01.07.2020)
Published in Qualitative social work : QSW : research and practice (01.07.2020)
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Journal Article
Doing data together – affective relations and mobile ethnography in home visits
Lydahl, Doris, Holmberg, Suvi, Günther, Kirsi, Ranta, Johanna
Published in Qualitative research : QR (01.08.2021)
Published in Qualitative research : QR (01.08.2021)
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Journal Article
Koti, hyvinvointityö ja haavoittuvuus
Günther, Kirsi, Holmberg, Suvi, Juhila, Kirsi, Kiuru, Hilla, Lämsä, Riikka, Niemi, Mia, Outila, Marjo, Perälä, Riikka, Raitakari, Suvi, Ranta, Johanna, Räsänen, Jenni-Mari, Saario, Sirpa, Seppänen, Marjaana, Takala, Henna, Valokivi, Heli, Vuorinen, Ilkka
Year of Publication 2022
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Year of Publication 2022
eBook
Current advance on distal myopathy genetics
Ranta-Aho, Johanna, Johari, Mridul, Udd, Bjarne
Published in Current opinion in neurology (01.10.2024)
Published in Current opinion in neurology (01.10.2024)
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Journal Article
Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation
Ranta-Aho, Johanna, Felice, Kevin J, Jonson, Per Harald, Sarparanta, Jaakko, Palmio, Johanna, Tasca, Giorgio, Sabatelli, Mario, Yvorel, Cédric, Harzallah, Ines, Touraine, Renaud, Pais, Lynn, Austin-Tse, Christina A, Ganesh, Vijay, O'Leary, Melanie C, Rehm, Heidi L, Hehir, Michael K, Subramony, Sub, Wu, Qian, Udd, Bjarne, Savarese, Marco
Published in medRxiv : the preprint server for health sciences (17.01.2024)
Published in medRxiv : the preprint server for health sciences (17.01.2024)
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Journal Article