Détail de l'auteur
Documents disponibles écrits par cet auteur
trié(s) par (Pertinence décroissant(e), Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) Mettre toutes les notices dans le panier Faire une suggestion Ajouter un critère de recherche
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies
Bachmann C, Noreen F, Voermans NC, et al.
Human mutation, 2019
Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction
Jungbluth H, Treves S, Zorzato F, et al.
Nature reviews. Neurology, 2018, 14, 3, p 151
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Schartner V, Romero NB, Donkervoort S, et al.
Acta neuropathologica, 2017, 133, 4, p 517
Functional characterization of orbicularis oculi and extraocular muscles
Sekulic-Jablanovic M, Ullrich ND, Goldblum D, et al.
The Journal of general physiology, 2016, 147, 5, p 395
Establishment of a human skeletal muscle-derived cell line: biochemical, cellular and electrophysiological characterization
Rokach O, Ullrich ND, Rausch M, et al.
The Biochemical journal, 2013, 455, 2, p 169
Mechanisms of calcium dysregulation in core myopathies
Treves S, Zorzato F
Congrès : Xèmes Journées Annuelles de la Société française de Myologie (SFM) (14-16 novembre 2012; Grenoble (France))
2012, p. 13
Myopathy caused by mammalian target of rapamycin complex 1 (mTORC1) inactivation is not reversed by restoring mitochondrial function
Romanino K, Mazelin L, Albert V, et al.
Proceedings of the national Academy of sciences of the United States of America, 2011, 108, 51, p. 20808-20813
Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease
Treves S, Vukcevic M, Jeannet PY, et al.
Human molecular genetics, 2011, 20, 3, p 589
Minor sarcoplasmic reticulum membrane components that modulate excitation-contraction coupling in striated muscles
Treves S, Vukcevic M, Maj M, et al.
Journal of physiology (The), 2009, 587, 13, p. 3071-3079
Ryanodine receptor activation by Ca v 1.2 is involved in dendritic cell major histocompatibility complex class II surface expression
Vukcevic M, Spagnoli GC, Iezzi G, et al.
Journal of biological chemistry (The), 2008, 283, 50, p. 34913-34922
Congenital muscle disorders with cores : the ryanodine receptor calcium channel paradigm
Treves S, Jungbluth H, Muntoni F, et al.
Current opinion in pharmacology, 2008, 8, p. 1-8
Loss of skeletal muscle strength in JP-45 knock out mice
Delbono O, Xia J, Treves S, et al.
Congrès : Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France)
2008, p. 549
Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.
Lyfenko AD, Ducreux S, Wang Y, et al.
Human mutation, 2007, 28, 1, p. 61-68
Functional effects of mutations identified in patients with multiminicore disease
Zorzato F, Jungbluth H, Zhou H, et al.
International union of biochemistry and molecular biology life, 2007, 59, 1, p. 14-20
Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes
Ducreux S, Zorzato F, Ferreiro A, et al.
Biochemical journal, 2006, 395, 2, p. 259-266
Characterization of recessive RYR1 mutations in core myopathies
Zhou H, Yamaguchi N, Xu L, et al.
Human molecular genetics, 2006, 15, 18, p. 2791-2803
The junctional SR protein JP-45 affects the functional expression of the voltage-dependent Ca2+ channel Cav1.1
Anderson AA, Altafaj X, Zheng Z, et al.
Journal of cell science, 2006, 119, 10, p 2145
Effect of ryanodine receptor 1 mutations on IL-6 release and intracellular calcium homeostasis in human myotubes from MHS individuals and patients affected by central core disease (abstract : congrès international de Myologie, 2005)
Treves S, Ducreux S, Muller C, et al.
Congrès : Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France)
2005, p. 160
Functions of junctate protein in calcium homeostasis in skeletal muscle : insights from transgenic mice (abstract : congrès international de Myologie, 2005)
Divet A, Grasso C, Paesante S, et al.
Congrès : Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France)
2005, p. 98
Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders
Treves S, Anderson AA, Ducreux S, et al.
Neuromuscular disorders : NMD, 2005, 15, 9-10, p. 577-587
Autoantibodies in thymoma-associated myasthenia gravis with myositis or neuromyotonia
Mygland A, Vincent A, Newsom-Davis J, et al.
Archives of neurology, 2000, 57, 4, p. 527-531
Malignant hyperthermia domain in the regulation of Ca2+ release channel (ryanodine receptor)
Zorzato F, Ronjat M, Treves S
Trends in cardiovascular medicine, 1997, 7, p. 312-316
The human ryanodine receptor gene : its mapping to 19q13.I, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy
MacKenzie AE, Korneluk RG, Zorzato F, et al.
American journal of human genetics (The), 1990, 46, 6, p. 1082-1089
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia
MacLennan DH, Duff C, Zorzato F, et al.
Nature, 1990, 343, 6258, p. 559-561
