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MyoMiner: explore gene co-expression in normal and pathological muscle
Malatras A, Michalopoulos I, Duguez S, et al.
BMC medical genomics, 2020, 13, 1, p 67
Self-Organizing 3D Human Trunk Neuromuscular Organoids
Faustino Martins JM, Fischer C, Urzi A, et al.
Cell stem cell, 2020, 26, 2
Subclinical myocardial injury in patients with Facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction - assessment by cardiovascular magnetic resonance
Blaszczyk E, Grieben U, von Knobelsdorff-Brenkenhoff F, et al.
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance, 2019, 21, 1, p 25
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials
Diaz-Manera J, Fernández-Torrón R, Llauger J, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study
Moore UR, Jacobs M, Fernández-Torrón R, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018, 89, 11, p 1224
Exon Skipping in a Dysf-Missense Mutant Mouse Model
Malcher J, Heidt L, Goyenvalle A, et al.
Molecular therapy. Nucleic acids, 2018, 13, p 198
A Molecular Signature of Myalgia in Myotonic Dystrophy 2
Moshourab R, Palada V, Grunwald S, et al.
EBiomedicine, 2016, 7, p 205
The immunoproteasomes are key to regulate myokines and MHC class I expression in idiopathic inflammatory myopathies
Bhattarai S, Ghannam K, Krause S, et al.
Journal of autoimmunity, 2016, 75, p 118
FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy
Ziat E, Mamchaoui K, Beuvin M, et al.
Journal of Neuromuscular Diseases, 2016, 3, 4, p 497
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
The Clinical Outcome Study for dysferlinopathy: An international multicenter study
Harris E, Bladen CL, Mayhew A, et al.
Neurology. Genetics, 2016, 2, 4
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, 24, 14, p 4049
Inflammation-Induced Acute Phase Response in Skeletal Muscle and Critical Illness Myopathy
Laughans C, Weber-Carstens S, Schmidt F, et al.
PLoS ONE, 2014, 9, 3
Dysferlin-deficient immortalized human myoblasts and myotubes as a useful tool to study dysferlinopathy
Philippi S, Bigot A, Marg A, et al.
PLoS Currents, 2012, 4, RRN1298, 12 p.
Dysferlin-peptides reallocate mutated dysferlin thereby restoring function
Schoewel V, Marg A, Kunz S, et al.
PLoS ONE, 2012, 7, 11, e49603, 11 p.
Delay in diagnosis of muscle disorders depends on the subspecialty of the initially consulted physician
Spuler S, Stroux A, Kuschel F, et al.
BMC Health Services Research, 2011, 11, 91, p. 1-5
Facioscapulo humeral muscular dystrophy, glucose metabolism and insulin resistance
Pakula A, Mahler A, Schmidt S, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 157-158
Immortalized human dystrophic cells : a tool to assess pathophysiology and therapeutic strategies
Chaouch S, Mamchaoui K, Trollet C, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 90
Investigations on membrane repair machinery in primary human myotubes harboring mutations in DYSF and CAV3
Kunz S, Bigot A, Zacharias U, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 115
Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders
Mamchaoui K, Trollet C, Bigot A, et al.
Skeletal Muscle, 2011, 1
Trans-splicing as an approach to dysferlin gene repair
Philippi S, Lorain S, Zacharias U, et al.
Congrès : 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France))
2011, p. 94
Clinical features of facioscapulohumeral muscular dystrophy 2
Lemmers RJLF, Camano P, Day JW, et al.
Neurology, 2010, 75, 17, p. 1548-1554
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation
Knoblauch H, Geier C, Adams S, et al.
Annals of neurology, 2010, 67, 1, p. 136-140
Cardiac involvement in sporadic inclusion-body myositis
Utz W, Schmidt S, Schulz-Menger J, et al.
Circulation, 2010, 121, 5, p. 706-708
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy
Gueneau L, Bertrand AT, Jais JP, et al.
American journal of human genetics (The), 2009, 85, 3, p 338
