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Une topographie particulière de l’atteinte musculaire dans les dysferlinopathies mis en évidence grâce à l’IRM musculaire corps entier
Urtizberea JA
2018
Dysferlinopathies et exercice physique : le sport intensif est à éviter chez les personnes encore non symptomatiques
Urtizberea JA
2018
Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet.
Barthelemy F, Defour A, Lévy N, et al.
Journal of Neuromuscular Diseases, 2018, 5, 1, p. 21-28
Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy.
Ullah MI, Ahmad A, Zarkovic M, et al.
Saudi Medical Journal, 2017, 38, 12, p. 1190-1195
Characterization of isolated amyloid myopathy.
Liewluck T, Milone M
European journal of neurology, 2017, 24, 12, p. 1437-1445
DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B.
Ma J, Pichavant C, du Bois H, et al.
Molecular therapy. Methods & clinical development, 2017, 7, p. 123-131
Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm: A Model for Accurate and Cost-effective Diagnosis.
Dastur RS, Gaitonde PS, Kachwala M, et al.
Annals of Indian academy of neurology, 2017, 20, 3, p. 302-308
Structure-Based Designed Nano-Dysferlin Significantly Improves Dysferlinopathy in BLA/J Mice.
Llanga T, Nagy N, Conatser L, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2017, Epub, 13 p.
Dysferlinopathy Promotes an Intramuscle Expansion of Macrophages with a Cyto-Destructive Phenotype.
Baek JH, Many GM, Evesson FJ, et al.
The American journal of pathology, 2017, 13 p.
Progress and challenges in diagnosis of dysferlinopathy
Fanin M, Angelini C
Muscle & Nerve, 2016, Epub, 40 p.
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies
Inashkina I, Jankevics E, Stavusis J, et al.
BMC musculoskeletal disorders, 2016, 17, 1, 6 p.
Progress and prospects of gene therapy clinical trials for the muscular dystrophies
Bengtsson NE, Seto JT, Hall JK, et al.
Human molecular genetics, 2016, 25, R1, p. R9-R17
Myology 2016 : 5th International Congress of Myology ; Posters n° 183 to 188 - gene therapies (exon-skipping)
Congrès : 5th International Congress of Myology (14-18 March 2016; Centre convention, Lyon, France)
2016, p. 110-113
Myology 2016 : 5th International Congress of Myology ; Posters n° 238 to 255 - Limb girdle muscular dystrophies / OPMD
Congrès : 5th International Congress of Myology (14-18 March 2016; Centre convention, Lyon, France)
2016, p. 137-146
Precise correction of disease mutations in induced pluripotent stem cells derived from patients with limb girdle muscular dystrophy.
Turan S, Farruggio AP, Srifa W, et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 2016, Epub, 43 p.
Full-length Dysferlin Transfer by the Hyperactive Sleeping Beauty Transposase Restores Dysferlin-deficient Muscle.
Escobar H, Schowel V, Spuler S, et al.
Molecular therapy. Nucleic acids, 2016, 5, 9 p.
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.
Izumi R, Niihori T, Takahashi T, et al.
Neurology. Genetics, 2015, 1, 4, 11 p.
Dysferlinopathy in Iran: Clinical and genetic report.
Fatehi F, Nafissi S, Urtizberea JA, et al.
Journal of the neurological sciences, 2015, 359, 1-2, p. 256-9
Dystrophies musculaires congénitales : Des formes sans implication du cerveau ni des yeux liées à des mutations des gènes DYSF, FKTN et ISPD : [Les cahiers de Myologie]
Allamand V
Les Cahiers de Myologie, 2015, Hors série N°3, vol. 31, p. 28-29
Upregulated IL-1beta in dysferlin-déficient muscle attenuates regeneration by blunting the response to pro-inflammatroy macrophages
Cohen TV, Many GM, Fleming BD, et al.
Skeletal Muscle, 2015, p. 1-21
Dysferlin rescue by spliceosome-mediated pre-mRNA trans-splicing targeting introns harbouring weakly defined 3' splice sites.
Philippi S, Lorain S, Beley C, et al.
Human molecular genetics, 2015, Epub
A comparison of AAV strategies distinguishes overlapping vectors for efficient systemic delivery of the 6.2 kb Dysferlin coding sequence
Pryadkina M, Lostal W, Bourg N, et al.
2015, 12 p.
Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients.
Bartoli M, Desvignes JP, Lévy N, et al.
Muscle & Nerve, 2014, 50, 6, p. 1007-1010
