Bjarne Udd

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 14

Top Topics

Dna Methylation

Muscular Dystrophy

Top Venues

Acta neuropathologica communications

Neurology. Genetics

Journal of medical genetics

medRxiv : the preprint server for health sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Johanna Palmio, Panu Kiviranta, Päivi H Hartikainen, Pirjo Isohanni, Mari Auranen, Karoliina Videman, Sini Penttilä, Sara Lehtinen, Jarkko Kirjavainen, Susanna Hintikka, Katriina Paloviita, Janna Saarela, Bjarne Udd
Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity. Neurology. Genetics 10 (3) (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Chiara Folland, Stojan Z Peric, Nagia Fahmy, Bjarne Udd, Magda Horakova, Anna Lusakowska, Rajanna Manoj, Atchayaram Nalini, Veronika Karcagi, Kiran Polavarapu, Hanns Lochmüller, Rita Horvath, Carsten G Bonnemann, Sandra Donkervoort, Goknur Haliloglu, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Topf, Volker Straub, Sander Pajusalu, Katrin Ounap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Johanna Palmio, Panu Kiviranta, Päivi H Hartikainen, Pirjo Isohanni, Mari Auranen, Karoliina Videman, Sini Penttilä, Sara Lehtinen, Jarkko Kirjavainen, Susanna Hintikka, Katriina Paloviita, Janna Saarela, Bjarne Udd
Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity. Neurology. Genetics 10 (3) (2024)
Ben Weisburd, Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin-Tse, Ikeoluwa Osei-Owusu, Emily O'Heir, Melanie O'Leary, Lynn Pais, Seth A Stafki, Audrey L Daugherty, Chiara Folland, Stojan Z Peric, Nagia Fahmy, Bjarne Udd, Magda Horakova, Anna Lusakowska, Rajanna Manoj, Atchayaram Nalini, Veronika Karcagi, Kiran Polavarapu, Hanns Lochmüller, Rita Horvath, Carsten G Bonnemann, Sandra Donkervoort, Göknur Haliloğlu, Ozlem Herguner, Peter B Kang, Gianina Ravenscroft, Nigel Laing, Hamish S Scott, Ana Töpf, Volker Straub, Sander Pajusalu, Katrin Õunap, Grace Tiao, Michael J Bamshad, Anne H O'Donnell-Luria
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv : the preprint server for health sciences (2024)
Vesa Periviita, Manu Jokela, Johanna Palmio, Bjarne Udd
A retrospective study of accuracy and usefulness of electrophysiological exercise tests. Journal of neurology (2023)
Aurélien Perrin, Corinne Métay, Marco Savarese, Rabah Ben Yaou, German Demidov, Isabelle Nelson, Guilhem Solé, Yann Péréon, Enrico Silvio Bertini, Fabiana Fattori, Adele D'Amico, Federica Ricci, Mira Ginsberg, Andreea Seferian, Odile Boespflug-Tanguy, Laurent Servais, Françoise Chapon, Emmeline Lagrange, Karen Gaudon, Adrien Bloch, Robin Ghanem, Lucie Guyant-Maréchal, Mridul Johari, Charles Van Goethem, Michel Fardeau, Raul Juntas Morales, Casie A Genetti, Minttu Marttila, Michel Koenig, Alan Beggs, Bjarne Udd, Gisèle Bonne, Mireille Cossee
Titin copy number variations associated with dominant inherited phenotypes. Journal of medical genetics (2023)
Alexander H Swan, Roland F R Schindler, Marco Savarese, Isabelle Mayer, Susanne Rinné, Felix Bleser, Anne Schänzer, Andreas Hahn, Mario Sabatelli, Francesco Perna, Kathryn Chapman, Mark Pfuhl, Alan C Spivey, Niels Decher, Bjarne Udd, Giorgio Tasca, Thomas Brand
Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking. Acta neuropathologica communications 11 (1) (2023)
Alexander H Swan, Roland F R Schindler, Marco Savarese, Isabelle Mayer, Susanne Rinné, Felix Bleser, Anne Schänzer, Andreas Hahn, Mario Sabatelli, Francesco Perna, Kathryn Chapman, Mark Pfuhl, Alan C Spivey, Niels Decher, Bjarne Udd, Giorgio Tasca, Thomas Brand
Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking. Acta neuropathologica communications 11 (1) (2023)
Alexander H Swan, Roland F R Schindler, Marco Savarese, Isabelle Mayer, Susanne Rinné, Felix Bleser, Anne Schänzer, Andreas Hahn, Mario Sabatelli, Francesco Perna, Kathryn Chapman, Mark Pfuhl, Alan C Spivey, Niels Decher, Bjarne Udd, Giorgio Tasca, Thomas Brand
Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking. Acta neuropathologica communications 11 (1) (2023)
Maria Francesca Di Feo, Victoria Lillback, Manu Jokela, Meriel McEntagart, Tessa Homfray, Elisa Giorgio, Guido C Casalis Cavalchini, Alfredo Brusco, Maria Iascone, Luigina Spaccini, Patrizia D'Oria, Marco Savarese, Bjarne Udd
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum. Journal of medical genetics (2023)
Alexander H Swan, Roland F R Schindler, Marco Savarese, Isabelle Mayer, Susanne Rinné, Felix Bleser, Anne Schänzer, Andreas Hahn, Mario Sabatelli, Francesco Perna, Kathryn Chapman, Mark Pfuhl, Alan C Spivey, Niels Decher, Bjarne Udd, Giorgio Tasca, Thomas Brand
Correction: Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking. Acta neuropathologica communications 11 (1) (2023)
Alexander H Swan, Roland F R Schindler, Marco Savarese, Isabelle Mayer, Susanne Rinné, Felix Bleser, Anne Schänzer, Andreas Hahn, Mario Sabatelli, Francesco Perna, Kathryn Chapman, Mark Pfuhl, Alan C Spivey, Niels Decher, Bjarne Udd, Giorgio Tasca, Thomas Brand
Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking. Acta neuropathologica communications 11 (1) (2023)
Peter Hackman, Salla M Rusanen, Mridul Johari, Anna Vihola, Per Harald Jonson, Jaakko Sarparanta, Kati Donner, Päivi Lahermo, Sampo Koivunen, Helena Luque, Merja Soininen, Ibrahim Mahjneh, Mari Auranen, Meharji Arumilli, Marco Savarese, Bjarne Udd
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene. Neurology. Genetics 7 (6) (2021)
Manu Jokela, Giorgio Tasca, Anna Vihola, Eugenio Mercuri, Per Harald Jonson, Sara Lehtinen, Salla M Rusanen, Marika Pane, Maria Donati, Mridul Johari, Marco Savarese, Sanna Huovinen, Pirjo Isohanni, Johanna Palmio, Päivi Hartikainen, Bjarne Udd
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathy. Neurology 92 (14) (2019)