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Auteur Spuler S |
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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
Revue : BMC medical genomics, 13, 1 Titre : MyoMiner: explore gene co-expression in normal and pathological muscle Type de document : Article Auteurs : Malatras A ; Michalopoulos I ; Duguez S ; Butler-Browne G ; Spuler S ; Duddy WJ Année de publication : 05/2020 Pages : p 67 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32393257 / DOI : 10.1186/s12920-020-0712-3
N° Profil MNM : 2020052 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32393257 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Self-Organizing 3D Human Trunk Neuromuscular Organoids
Faustino Martins JM, Fischer C, Urzi A, et al.
Cell stem cell, 2020, 26, 2
Revue : Cell stem cell, 26, 2 Titre : Self-Organizing 3D Human Trunk Neuromuscular Organoids Type de document : Article Auteurs : Faustino Martins JM ; Fischer C ; Urzi A ; Vidal R ; Kunz S ; Ruffault PL ; Kabuss L ; Hube I ; Gazzerro E ; Birchmeier C ; Spuler S ; Sauer S ; Gouti M Editeur : United States Année de publication : 02/2020 Langues : Anglais (eng) Mots-clés : maladie de la jonction neuromusculaire ; maladie neuromusculaire ; modèle cellulaire ; myasthenia gravis ; RECHERCHE Pubmed / DOI : Pubmed : 31956040 / DOI : 10.1016/j.stem.2019.12.007
N° Profil MNM : 2020013 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31956040 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance, 21, 1 Titre : Subclinical myocardial injury in patients with Facioscapulohumeral muscular dystrophy 1 and preserved ejection fraction - assessment by cardiovascular magnetic resonance Type de document : Article Auteurs : Blaszczyk E, Auteur ; Grieben U ; von Knobelsdorff-Brenkenhoff F ; Kellman P ; Schmacht L ; Funk S ; Spuler S ; Schulz-Menger J Année de publication : 29/04/2019 Pages : p 25 Langues : Anglais (eng) Résumé : Correction to: J Cardiovasc Magn
https://doi.org/10.1186/s12968-019-0537-4
In the original version of this article [1], published on
29 April 2019, there is 1 error in the ‘Method’ section of
the article.
The original publication states:
– A sampling protocol with reduced sensitivity to
heart rate was applied [15] before and 15 min after
contrast media (0.15 mmol/kg body weight
Gadoteriol) application (T1 native: 5 s(3 s)3 s; T1
post-contrast: 4 s(1 s)3 s(1 s)2 s; TE 1.1 ms and slice
thickness 6 mm).
However, the contrast media was Gadobutrol
The corrected information is also repeated below:
– A sampling protocol with reduced sensitivity to heart
rate was applied [15] before and 15 min after contrast
media (0.15mmol/kg body weight Gadobutrol)
application (T1 native: 5 s(3 s)3 s; T1 post-contrast: 4
s(1 s)3 s(1 s)2 s; TE 1.1 ms and slice thickness 6mm).Pubmed / DOI : DOI : 10.1186/s12968-019-0537-4 / Pubmed : 31030674
N° Profil MNM : 2019042 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31030674 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Journal of neurology, neurosurgery, and psychiatry, 89, 11 Titre : Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study Type de document : Article Auteurs : Moore UR, Auteur ; Jacobs M ; Fernández-Torrón R ; Jang J ; James MK ; Mayhew A ; Rufibach L ; Mittal P ; Eagle M ; Cnaan A ; Carlier PG ; Blamire A ; Hilsden H ; Lochmuller H ; Grieben U ; Spuler S ; Tesi Rocha C ; Day JW ; Jones KJ ; Bharucha-Goebel DX ; Salort-Campana E ; Harms M ; Pestronk A ; Krause S ; Schreiber-Katz O ; Walter MC ; Paradas C ; Hogrel JY ; Stojkovic T ; Takeda S ; Mori-Yoshimura M ; Bravver E ; Sparks S ; Diaz-Manera J ; Bello L ; Semplicini C ; Pegoraro E ; Mendell JR ; Bushby K ; Straub V Année de publication : 2018 Pages : p 1224 Langues : Anglais (eng) Mots-clés : âge de début de la maladie ; dysferline (maladie neuromusculaire liée à) ; étude rétrospective ; évolution de la maladie ; exercice musculaire ; fauteuil roulant ; LGMD2B ; locomotion ; questionnaire Pubmed / DOI : DOI : 10.1136/jnnp-2017-317329 / Pubmed : 29378789
N° Profil MNM : 2018021 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29378789 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
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A Molecular Signature of Myalgia in Myotonic Dystrophy 2
Moshourab R, Palada V, Grunwald S, et al.
EBiomedicine, 2016, 7, p 205
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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
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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
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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
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The Clinical Outcome Study for dysferlinopathy: An international multicenter study
Harris E, Bladen CL, Mayhew A, et al.
Neurology. Genetics, 2016, 2, 4
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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
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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
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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.
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Dysferlin-peptides reallocate mutated dysferlin thereby restoring function
Schoewel V, Marg A, Kunz S, et al.
PLoS ONE, 2012, 7, 11, e49603, 11 p.
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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
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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
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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
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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
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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
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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
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Clinical features of facioscapulohumeral muscular dystrophy 2
Lemmers RJLF, Camano P, Day JW, et al.
Neurology, 2010, 75, 17, p. 1548-1554
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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
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Cardiac involvement in sporadic inclusion-body myositis
Utz W, Schmidt S, Schulz-Menger J, et al.
Circulation, 2010, 121, 5, p. 706-708
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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
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