Works matching AU Nicole, Sophie

Results: 25

Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1082, doi. 10.1002/humu.20388

By:

Stum, Morgane;
Davoine, Claire-Sophie;
Vicart, Savine;
Guillot-Noël, Léna;
Topaloglu, Haluk;
Carod-Artal, Francisco Javier;
Kayserili, Hülya;
Hentati, Fayçal;
Merlini, Luciano;
Urtizberea, Jon Andoni;
Hammouda, EL-Hadi;
Quan, Phuc Canh;
Fontaine, Bertrand;
Nicole, Sophie

Publication type:

Article

Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients.

Published in:

Annals of Clinical & Translational Neurology, 2015, v. 2, n. 4, p. 362, doi. 10.1002/acn3.179

By:

Bruneteau, Gaëlle;
Bauché, Stéphanie;
Gonzalez de Aguilar, Jose Luis;
Brochier, Guy;
Mandjee, Nathalie;
Tanguy, Marie‐Laure;
Hussain, Ghulam;
Behin, Anthony;
Khiami, Frédéric;
Sariali, Elhadi;
Hell‐Remy, Caroline;
Salachas, François;
Pradat, Pierre‐François;
Lacomblez, Lucette;
Nicole, Sophie;
Fontaine, Bertrand;
Fardeau, Michel;
Loeffler, Jean‐Philippe;
Meininger, Vincent;
Fournier, Emmanuel

Publication type:

Article

A204E mutation in Na<sub>v</sub>1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.

Published in:

Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34750-8

By:

Kokunai, Yosuke;
Dalle, Carine;
Vicart, Savine;
Sternberg, Damien;
Pouliot, Valérie;
Bendahhou, Said;
Fournier, Emmanuel;
Chahine, Mohamed;
Fontaine, Bertrand;
Nicole, Sophie

Publication type:

Article

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

Published in:

Nature Genetics, 2012, v. 44, n. 9, p. 1030, doi. 10.1038/ng.2358

By:

Heinzen, Erin L;
Swoboda, Kathryn J;
Hitomi, Yuki;
Gurrieri, Fiorella;
Nicole, Sophie;
de Vries, Boukje;
Tiziano, F Danilo;
Fontaine, Bertrand;
Walley, Nicole M;
Heavin, Sinéad;
Panagiotakaki, Eleni;
Neri, Giovanni;
Koelewijn, Stephany;
Kamphorst, Jessica;
Geilenkirchen, Marije;
Pelzer, Nadine;
Laan, Laura;
Haan, Joost;
Ferrari, Michel;
van den Maagdenberg, Arn

Publication type:

Article

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

Published in:

Nature Genetics, 2000, v. 26, n. 4, p. 480, doi. 10.1038/82638

By:

Nicole, Sophie;
Davoine, Claire-Sophie;
Topaloglu, Haluk;
Cattolico, Laurence;
Barral, Duarte;
Beighton, Peter;
Hamida, Christiane Ben;
Hammouda, Hadi;
Cruaud, Corinne;
White, Peter S.;
Samson, Delphine;
Urtizberea, J. Andoni;
Lehmann-Horn, Franck;
Weissenbach, Jean;
Hentati, Faycal;
Fontaine, Bertrand

Publication type:

Article

The multiple faces of the ATP1A3-related dystonic movement disorder.

Published in:

Movement Disorders, 2013, v. 28, n. 10, p. 1457, doi. 10.1002/mds.25396

By:

Roubergue, Anne;
Roze, Emmanuel;
Vuillaumier‐Barrot, Sandrine;
Fontenille, Marie‐Joséphine;
Méneret, Aurélie;
Vidailhet, Marie;
Fontaine, Bertrand;
Doummar, Diane;
Philibert, Bertrand;
Riant, Florence;
Nicole, Sophie

Publication type:

Article

Neuronal Cav3 channelopathies: recent progress and perspectives.

Published in:

Pflügers Archiv: European Journal of Physiology, 2020, v. 472, n. 7, p. 831, doi. 10.1007/s00424-020-02429-7

By:

Lory, Philippe;
Nicole, Sophie;
Monteil, Arnaud

Publication type:

Article

Perlecan is recruited by dystroglycan to nodes of Ranvier and binds the clustering molecule gliomedin.

Published in:

Journal of Cell Biology, 2015, v. 208, n. 3, p. 313, doi. 10.1083/jcb.201403111

By:

Colombelli, Cristina;
Palmisano, Marilena;
Eshed-Eisenbach, Yael;
Zambroni, Desirée;
Pavoni, Ernesto;
Ferri, Cinzia;
Saccucci, Stefania;
Nicole, Sophie;
Soininen, Raija;
McKee, Karen K.;
Yurchenco, Peter D.;
Peles, Elior;
Wrabetz, Lawrence;
Feltri, M. Laura

Publication type:

Article

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Published in:

Frontiers in Pharmacology, 2016, v. 6, p. 1, doi. 10.3389/fphar.2015.00314

By:

Loussouarn, Gildas;
Sternberg, Damien;
Nicole, Sophie;
Marionneau, Céline;
Le Bouffant, Francoise;
Toumaniantz, Gilles;
Barc, Julien;
Malak, Olfat A.;
Fressart, Véronique;
Péréon, Yann;
Baró, Isabelle;
Charpentier, Flavien

Publication type:

Article

Physiological and pathophysiological insights of Nav1.4 and Nav1.5 comparison.

Published in:

Frontiers in Pharmacology, 2015, v. 6, p. 1, doi. 10.3389/fphar.2015.00314

By:

Loussouarn, Gildas;
Sternberg, Damien;
Nicole, Sophie;
Marionneau, Céline;
Le Bouffant, Francoise;
Toumaniantz, Gilles;
Barc, Julien;
Malak, Olfat A.;
Fressart, Véronique;
Péréon, Yann;
Baró, Isabelle;
Charpentier, Flavien

Publication type:

Article

Spinal muscular atrophy: Recent advances and future prospects.

Published in:

Muscle & Nerve, 2002, v. 26, n. 1, p. 4, doi. 10.1002/mus.10110

By:

Nicole, Sophie;
Diaz, Carmen Cifuentes;
Frugier, Tony;
Melki, Judith

Publication type:

Article

The 20th Ion Channel Meeting.

Published in:

Channels (19336950), 2010, v. 4, n. 4, p. 329, doi. 10.4161/chan.4.4.12777

By:

Nicole, Sophie;
Morel, Jean-Luc;
Roger, Sébastien;
Véry, Anne-Aliénor;
Vacher, Hélène;
Legros, Christian

Publication type:

Article

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 9, p. 2429, doi. 10.1093/brain/awu160

By:

Nicole, Sophie;
Chaouch, Amina;
Torbergsen, Torberg;
Bauché, Stéphanie;
de Bruyckere, Elodie;
Fontenille, Marie-Joséphine;
Horn, Morten A.;
van Ghelue, Marijke;
Løseth, Sissel;
Issop, Yasmin;
Cox, Daniel;
Müller, Juliane S.;
Evangelista, Teresinha;
Stålberg, Erik;
Ioos, Christine;
Barois, Annie;
Brochier, Guy;
Sternberg, Damien;
Fournier, Emmanuel;
Hantaï, Daniel

Publication type:

Article

Localization of the Schwartz–Jampel syndrome (SJS) locus to chromosome 1p34–p36.1 by homozygosity mapping.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 9, p. 1633

By:

Nicole, Sophie;
Hamida, Christiane Ben;
Beighton, Peter;
Bakouri, Selim;
Belal, Samir;
Romero, Norma;
Viljoen, Denis;
Ponsot, Gérard;
Sammoud, Azza;
Weissenbach, Jean;
Fardeau, Michel;
Hamida, Mongi Ben;
Fontaine, Bertrand;
Hentati, Fayçal

Publication type:

Article

Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz–Jampel syndrome neuromyotonia.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 20, p. 3166, doi. 10.1093/hmg/ddn213

By:

Stum, Morgane;
Girard, Emmanuelle;
Bangratz, Marie;
Bernard, Véronique;
Herbin, Marc;
Vignaud, Alban;
Ferry, Arnaud;
Davoine, Claire-Sophie;
Echaniz-Laguna, Andoni;
René, Frédérique;
Marcel, Christophe;
Molgó, Jordi;
Fontaine, Bertrand;
Krejci, Eric;
Nicole, Sophie

Publication type:

Article

Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 12, p. 1439, doi. 10.1093/hmg/11.12.1439

By:

Cifuentes-Diaz, Carmen;
Nicole, Sophie;
Velasco, Maria E.;
Borra-Cebrian, Christophe;
Panozzo, Cristina;
Frugier, Tony;
Millet, Gaelle;
Roblot, Natacha;
Joshi, Vandana;
Melki, Judith

Publication type:

Article

The Ectonucleotidases CD39 and CD73 and the Purinergic Receptor P2X4 Serve as Prognostic Markers in Non-Small Cell Lung Cancer.

Published in:

Cancers, 2025, v. 17, n. 7, p. 1142, doi. 10.3390/cancers17071142

By:

Kurowski, Konrad;
Prozmann, Sophie Nicole;
Cabrita Figueiredo, António Eduardo;
Heyer, Jannis;
Kind, Felix;
Schröder, Karl-Moritz;
Passlick, Bernward;
Werner, Martin;
Bronsert, Peter;
Schmid, Severin

Publication type:

Article

New Challenges Resulting From the Loss of Function of Na<sub>v</sub>1.4 in Neuromuscular Diseases.

Published in:

Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.751095

By:

Nicole, Sophie;
Lory, Philippe

Publication type:

Article

Effect of locomotor training on muscle performance in the context of nerve-muscle communication dysfunction.

Published in:

Muscle & Nerve, 2012, v. 45, n. 4, p. 567, doi. 10.1002/mus.22332

By:

Hadj-Saïd, Wahiba;
Bangratz, Marie;
Vignaud, Alban;
Chatonnet, Arnaud;
Butler-Browne, Gillian;
Nicole, Sophie;
Agbulut, Onnick;
Ferry, Arnaud

Publication type:

Article

Electrophysiological studies in a mouse model of Schwartz-Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin.

Published in:

Muscle & Nerve, 2009, v. 40, n. 1, p. 55, doi. 10.1002/mus.21253

By:

Echaniz-Laguna, Andoni;
Rene, Frédérique;
Marcel, Christophe;
Bangratz, Marie;
Fontaine, Bertrand;
Loeffler, Jean-Philippe;
Nicole, Sophie

Publication type:

Article

An Uncommon Cause of Recurrent Presyncope, Dizziness, and Tachycardia: A Case Report of Diffuse, Adult-Onset Nesidioblastosis/Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome (NIPHS).

Published in:

Biomedicines, 2023, v. 11, n. 6, p. 1741, doi. 10.3390/biomedicines11061741

By:

Dieterle, Martin Philipp;
Husari, Ayman;
Prozmann, Sophie Nicole;
Wiethoff, Hendrik;
Stenzinger, Albrecht;
Röhrich, Manuel;
Pfeiffer, Uwe;
Kießling, Wolfgang Rüdiger;
Engel, Helena;
Sourij, Harald;
Steinberg, Thorsten;
Tomakidi, Pascal;
Kopf, Stefan;
Szendroedi, Julia

Publication type:

Article

Diffuse, Adult-Onset Nesidioblastosis/Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome (NIPHS): Review of the Literature of a Rare Cause of Hyperinsulinemic Hypoglycemia.

Published in:

Biomedicines, 2023, v. 11, n. 6, p. 1732, doi. 10.3390/biomedicines11061732

By:

Dieterle, Martin Philipp;
Husari, Ayman;
Prozmann, Sophie Nicole;
Wiethoff, Hendrik;
Stenzinger, Albrecht;
Röhrich, Manuel;
Pfeiffer, Uwe;
Kießling, Wolfgang Rüdiger;
Engel, Helena;
Sourij, Harald;
Steinberg, Thorsten;
Tomakidi, Pascal;
Kopf, Stefan;
Szendroedi, Julia

Publication type:

Article

Persistent association between family socioeconomic status and primary school performance in Britain over 95 years.

Published in:

NPJ Science of Learning, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41539-022-00120-3

By:

von Stumm, Sophie;
Cave, Sophie Nicole;
Wakeling, Paul

Publication type:

Article

Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle.

Published in:

Journal of Cell Biology, 2003, v. 161, n. 3, p. 571, doi. 10.1083/jcb.200210117

By:

Nicole, Sophie;
Desforges, Benedicte;
Millet, Gaelle;
Lesbordes, Jeanne;
Cifuentes-Diaz, Carmen;
Vertes, Dora;
My Linh Cao;
De Backer, Fabienne;
Languille, Laetitia;
Roblot, Natacha;
Joshi, Vandana;
Gillis, Jean-Marie

Publication type:

Article

Secondary data analysis of British population cohort studies: A practical guide for education researchers.

Published in:

British Journal of Educational Psychology, 2021, v. 91, n. 2, p. 531, doi. 10.1111/bjep.12386

By:

Cave, Sophie Nicole;
Stumm, Sophie

Publication type:

Article