Nicole, Sophie
Sophie Nicole researcher ORCID ID = 0000-0001-8793-7928
VIAF ID: 286473822 (Personal)
Permalink: http://viaf.org/viaf/286473822
Preferred Forms
- 100 1 _ ‡a NICOLE, SOPHIE.
- 200 _ | ‡a Nicole ‡b Sophie
- 100 1 _ ‡a Nicole, Sophie
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- 100 1 _ ‡a Nicole, Sophie
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- 100 0 _ ‡a Sophie Nicole ‡c researcher ORCID ID = 0000-0001-8793-7928
4xx's: Alternate Name Forms (1)
Works
Title | Sources |
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The 20th ion channel meeting: September 2009, France | |
A204E mutation in Na1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs | |
Advances in the understanding of skeletal muscle weakness in murine models of diseases affecting nerve-evoked muscle activity, motor neurons, synapses and myofibers. | |
A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes. | |
[Congenital myasthenic syndromes; French experience] | |
Déchiffrement des mécanismes induits par ColQ dans le contrôle des niveaux d'ARNm AChR. | |
Deciphering ColQ induced mechanisms in the control of AChR mRNA levels | |
Diseases caused by voltage-gated ion channels | |
Distinct neurological disorders with ATP1A3 mutations | |
Effect of locomotor training on muscle performance in the context of nerve-muscle communication dysfunction | |
Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin. | |
Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients. | |
Étude des voies de signalisation impliquées dans le contrôle de l'expression de SMN dans des modèles murins d'Amyotrophie Spinale Infantile | |
Etude du système nerveux périphérique dans un modèle murin du syndrome de Schwartz-Jampel : rôle du perlecan dans le développement et la maintenance de la myélinisation et des interactions neurone-glie | |
Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz–Jampel syndrome neuromyotonia | |
Faire face aux dépendances : alcool, tabac, drogues, jeux, internet... | |
Functionnal charaterization of mutant form of dihydropyridine receptors causing type 1 Hypokalemic Periodic Paralysis. | |
Innovation physiothérapeutique dans l'amyotrophie spinale infantile : du modèle animal au patient | |
Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle. | |
L'analyse des notes suicidaires comme moyen d'évaluer le monde interne de l'adolescent suicidant , 1995 | |
Long‐term exercise‐specific neuroprotection in spinal muscular atrophy : from mice to patient. | |
Modulations du métabolisme et de l'autophagie induites par l'exercice physique dans un modèle souris de sclérose latérale amyotrophique (SLA) | |
Modulations of metabolism and autophagy induced by specific physical exercise in an ALS mouse model (SOD1G93A mice). | |
The multiple faces of the ATP1A3-related dystonic movement disorder. | |
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy. | |
Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model | |
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood | |
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome | |
Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome | |
Perlecan is recruited by dystroglycan to nodes of Ranvier and binds the clustering molecule gliomedin. | |
Rôle des protéines Wnt et de leurs voies de signalisation associées dans la formation de la jonction neuromusculaire | |
Skeletal muscle sodium channelopathies. | |
Spinal muscular atrophy: recent advances and future prospects. | |
Study of Signaling pathways involved in SMN gene expression in Spinal Muscular Atrophy-like mouse models. | |
Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses. | |
Syndrome fibromyalgique : vers la catégorisation de sous-groupes | |
VERS L'IDENTIFICATION DU GENE RESPONSABLE DU SYNDROME DE SCHWARTZ-JAMPEL DE TYPE 1 : CARTOGRAPHIES GENETIQUES, PHYSIQUE ET ETUDE DE GENES CANDIDATS |