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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.
Journal articles
hal-02336935v1
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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 articles
hal-02332968v1
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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.
Journal articles
hal-02321460v1
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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.
Journal articles
hal-02336889v1
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A new titinopathy
Rafael de Cid
,
Rabah Ben Yaou
,
Carinne Roudaut
,
Karine Charton
,
Sylvain Baulande
,
et al.
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.
Journal articles
hal-03003854v2
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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.
Journal articles
hal-01059122v1
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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.
Journal articles
hal-02333055v1
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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.
Journal articles
hal-02332981v1
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Atypical phenotypes in titinopathies explained by second titin mutations
Anni Evilä
,
Anna Vihola
,
Jaakko Sarparanta
,
Olayinka Raheem
,
Johanna Palmio
,
et al.
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.
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.
Journal articles
hal-02333009v1
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