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authFullName_s : Bjarne Udd

The Phenotype of Dysferlin-Deficient Mice Is Not Rescued by Adeno-Associated Virus–Mediated Transfer of Anoctamin 5

Florence Le Roy , Laurence Suel , Jérôme Poupiot , Marc Bartoli , François Monjaret , et al.
Human gene therapy. Clinical development, 2013, 24 (2), pp.65-76. ⟨10.1089/humc.2012.217⟩
Journal articles hal-02336935v1

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

Rainiero Ávila-Polo , Edoardo Malfatti , Xavière Lornage , Chrystel Cheraud , Isabelle Nelson , et al.
Journal of Neuropathology and Experimental Neurology, 2018, 77 (12), pp.1101-1114. ⟨10.1093/jnen/nly095⟩
Journal articles hal-02332968v1

Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies

Karine Charton , Nathalie Danièle , Anna Vihola , Carinne Roudaut , Evelyne Gicquel , et al.
Human Molecular Genetics, 2010, 19 (23), pp.4608-4624. ⟨10.1093/hmg/ddq388⟩
Journal articles hal-02321460v1

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy

Karine Charton , Jaakko Sarparanta , Anna Vihola , Astrid Milic , Per Harald Jonson , et al.
Human Molecular Genetics, 2015, 24 (13), pp.3718-3731. ⟨10.1093/hmg/ddv116⟩
Journal articles hal-02336889v1

A new titinopathy

Rafael de Cid , Rabah Ben Yaou , Carinne Roudaut , Karine Charton , Sylvain Baulande , et al.
Neurology, 2015, 85 (24), pp.2126-2135. ⟨10.1212/WNL.0000000000002200⟩
Journal articles hal-02336883v1
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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy patients.

Jorge Alonso-Pérez , Claudio Semplicini , Lidia González-Quereda , Michela Guglieri , Volker Straub , et al.
Brain - A Journal of Neurology , 2020, 143 (9), pp.2696-2708. ⟨10.1093/brain/awaa228⟩
Journal articles hal-03003854v2

Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophy.

Jeremy Rouillon , Aleksandar Zocevic , Thibaut Leger , Camille Garcia , Jean-Michel Camadro , et al.
Neuromuscul Disord, 2014, 24 (7), pp.563-73. ⟨10.1016/j.nmd.2014.03.012⟩
Journal articles hal-01059122v1

1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15–16 November 2016, Evry, France

Justine Marsolier , Pascal Laforêt , Elena Pegoraro , John Vissing , Isabelle Richard , et al.
Neuromuscular Disorders, 2017, 27 (7), pp.683-692. ⟨10.1016/j.nmd.2017.02.011⟩
Journal articles hal-02333055v1

234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8–10 December 2017

Conrad Weihl , Bjarne Udd , Michael Hanna , Anat Ben-Zvi , Thomas Blaettler , et al.
Neuromuscular Disorders, 2018, 28 (12), pp.1022-1030. ⟨10.1016/j.nmd.2018.09.004⟩
Journal articles hal-02332981v1

Atypical phenotypes in titinopathies explained by second titin mutations

Anni Evilä , Anna Vihola , Jaakko Sarparanta , Olayinka Raheem , Johanna Palmio , et al.
Annals of Neurology, 2014, 75 (2), pp.230-240. ⟨10.1002/ana.24102⟩
Journal articles istex hal-02336903v1
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Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies.

Jérémy Rouillon , Jérôme Poupiot , Aleksandar Zocevic , Fatima Amor , Thibaut Léger , et al.
Human Molecular Genetics, 2015, 24 (17), pp.4916-4932. ⟨10.1093/hmg/ddv214⟩
Journal articles hal-01226478v1
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Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily Oates , Kristi J Jones , Sandra Donkervoort , Amanda Charlton , Susan Brammah , et al.
Annals of Neurology, 2018, 83 (6), pp.1105-1124. ⟨10.1002/ana.25241⟩
Journal articles hal-02333009v1