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In vivo RyR1 reduction in muscle triggers a core-like myopathy.
Published in:
Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01068-4
By:
- Pelletier, Laurent;
- Petiot, Anne;
- Brocard, Julie;
- Giannesini, Benoit;
- Giovannini, Diane;
- Sanchez, Colline;
- Travard, Lauriane;
- Chivet, Mathilde;
- Beaufils, Mathilde;
- Kutchukian, Candice;
- Bendahan, David;
- Metzger, Daniel;
- Franzini Armstrong, Clara;
- Romero, Norma B.;
- Rendu, John;
- Jacquemond, Vincent;
- Fauré, Julien;
- Marty, Isabelle
Publication type:
Article
Dynamics of the inner edge of the dead zone in protoplanetary disks.
Published in:
Proceedings of the International Astronomical Union, 2013, v. 8, n. S299, p. 157, doi. 10.1017/S1743921313008181
By:
- Faure, Julien;
- Fromang, Sebastien;
- Latter, Henrik
Publication type:
Article
Tubulin tyrosination is a major factor affecting the recruitment of CAP-Gly proteins at microtubule plus ends.
Published in:
Journal of Cell Biology, 2006, v. 174, n. 6, p. 839, doi. 10.1083/jcb.200512058
By:
- Peris, Leticia;
- Thery, Manuel;
- Fauré, Julien;
- Saoudi, Yasmina;
- Lafanechère, Laurence;
- Chilton, John K.;
- Gordon-Weeks, Phillip;
- Galjart, Niels;
- Bornens, Michel;
- Wordeman, Linda;
- Wehland, Juergen;
- Andrieux, Annie;
- Job, Didier
Publication type:
Article
An empirical exploration of the subjectivity problem of information qualities.
Published in:
Journal of the Association for Information Science & Technology, 2024, v. 75, n. 7, p. 829, doi. 10.1002/asi.24884
By:
- Van der Sluis, Frans;
- Faure, Julien;
- Homnual, Sofie Phutachard
Publication type:
Article
Late endosome motility depends on lipids via the small GTPase Rab7.
Published in:
EMBO Journal, 2002, v. 21, n. 6, p. 1289, doi. 10.1093/emboj/21.6.1289
By:
- Lebrand, Cécile;
- Corti, Michela;
- Goodson, Holly;
- Cosson, Pierre;
- Cavalli, Valeria;
- Mayran, Nathalie;
- Fauré, Julien;
- Gruenberg, Jean
Publication type:
Article
Familial deep cavitating state with a glutathione metabolism defect.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 12, p. 2573, doi. 10.1002/acn3.50933
By:
- Rendu, John;
- Van Noolen, Laetitia;
- Garrel, Catherine;
- Brocard, Julie;
- Marty, Isabelle;
- Corne, Christelle;
- Fauré, Julien;
- Besson, Gérard
Publication type:
Article
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Published in:
Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-018-0655-5
By:
- Garibaldi, Matteo;
- Rendu, John;
- Brocard, Julie;
- Lacene, Emmanuelle;
- Fauré, Julien;
- Brochier, Guy;
- Beuvin, Maud;
- Labasse, Clemence;
- Madelaine, Angeline;
- Malfatti, Edoardo;
- Bevilacqua, Jorge Alfredo;
- Lubieniecki, Fabiana;
- Monges, Soledad;
- Taratuto, Ana Lia;
- Laporte, Jocelyn;
- Marty, Isabelle;
- Antonini, Giovanni;
- Romero, Norma Beatriz
Publication type:
Article
Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.
Published in:
Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.773177
By:
- Le Tanno, Pauline;
- Folacci, Mathilde;
- Revilloud, Jean;
- Faivre, Laurence;
- Laurent, Gabriel;
- Pinson, Lucile;
- Amedro, Pascal;
- Millat, Gilles;
- Janin, Alexandre;
- Vivaudou, Michel;
- Roux-Buisson, Nathalie;
- Fauré, Julien
Publication type:
Article
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
Published in:
Molecular Genetics & Genomics, 2022, v. 297, n. 6, p. 1601, doi. 10.1007/s00438-022-01945-8
By:
- Khan, Ayaz;
- Tian, Shixiong;
- Tariq, Muhammad;
- Khan, Sheraz;
- Safeer, Muhammad;
- Ullah, Naimat;
- Akbar, Nazia;
- Javed, Iram;
- Asif, Mahnoor;
- Ahmad, Ilyas;
- Ullah, Shahid;
- Satti, Humayoon Shafique;
- Khan, Raees;
- Naeem, Muhammad;
- Ali, Mahwish;
- Rendu, John;
- Fauré, Julien;
- Dieterich, Klaus;
- Latypova, Xenia;
- Baig, Shahid Mahmood
Publication type:
Article
Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome.
Published in:
British Journal of Haematology, 2021, v. 192, n. 5, p. 909, doi. 10.1111/bjh.17346
By:
- Egot, Marion;
- Lasne, Dominique;
- Poirault‐Chassac, Sonia;
- Mirault, Tristan;
- Pidard, Dominique;
- Dreano, Elise;
- Elie, Caroline;
- Gandrille, Sophie;
- Marchelli, Aurore;
- Baruch, Dominique;
- Rendu, John;
- Fauré, Julien;
- Flaujac, Claire;
- Gratacap, Marie‐Pierre;
- Sié, Pierre;
- Gaussem, Pascale;
- Salomon, Rémi;
- Baujat, Geneviève;
- Bachelot‐Loza, Christilla
Publication type:
Article
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 8, p. 1559, doi. 10.1093/hmg/ddw033
By:
- Davignon, Laurianne;
- Chauveau, Claire;
- Julien, Cédric;
- Dill, Corinne;
- Duband-Goulet, Isabelle;
- Cabet, Eva;
- Buendia, Brigitte;
- Lilienbaum, Alain;
- Rendu, John;
- Minot, Marie Christine;
- Guichet, Agnès;
- Allamand, Valérie;
- Vadrot, Nathalie;
- Fauré, Julien;
- Odent, Sylvie;
- Lazaro, Leïla;
- Leroy, Jean Paul;
- Marcorelles, Pascale;
- Dubourg, Odile;
- Ferreiro, Ana
Publication type:
Article
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 4, p. 994, doi. 10.1093/hmg/ddu514
By:
- Montjean, Rodrick;
- Aoidi, Rifdat;
- Desbois, Pierrette;
- Rucci, Julien;
- Trichet, Michaël;
- Salomon, Rémi;
- Rendu, John;
- Fauré, Julien;
- Lunardi, Joël;
- Gacon, Gérard;
- Billuart, Pierre;
- Dorseuil, Olivier
Publication type:
Article
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 8, p. 1483, doi. 10.1093/hmg/dds514
By:
- Dieterich, Klaus;
- Quijano-Roy, Susana;
- Monnier, Nicole;
- Zhou, Jie;
- Fauré, Julien;
- Smirnow, Daniela Avila;
- Carlier, Robert;
- Laroche, Cécile;
- Marcorelles, Pascale;
- Mercier, Sandra;
- Mégarbané, André;
- Odent, Sylvie;
- Romero, Norma;
- Sternberg, Damien;
- Marty, Isabelle;
- Estournet, Brigitte;
- Jouk, Pierre-Simon;
- Melki, Judith;
- Lunardi, Joël
Publication type:
Article
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 12, p. 2759, doi. 10.1093/hmg/dds104
By:
- Roux-Buisson, Nathalie;
- Cacheux, Marine;
- Fourest-Lieuvin, Anne;
- Fauconnier, Jeremy;
- Brocard, Julie;
- Denjoy, Isabelle;
- Durand, Philippe;
- Guicheney, Pascale;
- Kyndt, Florence;
- Leenhardt, Antoine;
- Le Marec, Hervé;
- Lucet, Vincent;
- Mabo, Philippe;
- Probst, Vincent;
- Monnier, Nicole;
- Ray, Pierre F.;
- Santoni, Elodie;
- Trémeaux, Pauline;
- Lacampagne, Alain;
- Fauré, Julien
Publication type:
Article
Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.
Published in:
Asian Journal of Andrology, 2015, v. 17, n. 1, p. 68, doi. 10.4103/1008-682X.13644
By:
- Ounis, Leyla;
- Zoghmar, Abdelali;
- Coutton, Charles;
- Rouabah, Leila;
- Hachemi, Maroua;
- Martinez, Delphine;
- Martinez, Guillaume;
- Bellil, Ines;
- Khelifi, Douadi;
- Arnoult, Christophe;
- Fauré, Julien;
- Benbouhedja, Sebti;
- Rouabah, Abdelkader;
- Ray, Pierre F.
Publication type:
Article
Exertional Heat Stroke and Susceptibility to Malignant Hyperthermia in an Athlete: Evidence for a Link?
Published in:
Journal of Athletic Training (Allen Press), 2015, v. 50, n. 11, p. 1212, doi. 10.4085/1062-6050-50.12.01
By:
- Poussel, Mathias;
- Guerci, Philippe;
- Kaminsky, Pierre;
- Heymonet, Marie;
- Roux-Buisson, Nathalie;
- Faure, Julien;
- Fronzaroli, Emilien;
- Chenuel, Bruno
Publication type:
Article
Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.
Published in:
Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.639226
By:
- Bakri, Faris Ghalib;
- Mollin, Michelle;
- Beaumel, Sylvain;
- Vigne, Bénédicte;
- Roux-Buisson, Nathalie;
- Al-Wahadneh, Adel Mohammed;
- Alzyoud, Raed Mohammed;
- Hayajneh, Wail Ahmad;
- Daoud, Ammar Khaled;
- Shukair, Mohammed Elian Abu;
- Karadshe, Mansour Fuad;
- Sarhan, Mahmoud Mohammad;
- Al-Ramahi, Jamal Ahmad Wadi;
- Fauré, Julien;
- Rendu, John;
- Stasia, Marie Jose
Publication type:
Article
Deletion of the microtubule-associated protein 6 (MAP6) results in skeletal muscle dysfunction.
Published in:
Skeletal Muscle, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13395-018-0176-8
By:
- Sébastien, Muriel;
- Giannesini, Benoit;
- Aubin, Perrine;
- Brocard, Julie;
- Chivet, Mathilde;
- Pietrangelo, Laura;
- Boncompagni, Simona;
- Bosc, Christophe;
- Brocard, Jacques;
- Rendu, John;
- Gory-Fauré, Sylvie;
- Andrieux, Annie;
- Fourest-Lieuvin, Anne;
- Fauré, Julien;
- Marty, Isabelle
Publication type:
Article
Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.
Published in:
Human Mutation, 2017, v. 38, n. 2, p. 152, doi. 10.1002/humu.23139
By:
- Rendu, John;
- Montjean, Rodrick;
- Coutton, Charles;
- Suri, Mohnish;
- Chicanne, Gaetan;
- Petiot, Anne;
- Brocard, Julie;
- Grunwald, Didier;
- Pietri Rouxel, France;
- Payrastre, Bernard;
- Lunardi, Joel;
- Dorseuil, Olivier;
- Marty, Isabelle;
- Fauré, Julien
Publication type:
Article
Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.
Published in:
Human Mutation, 2011, v. 32, n. 9, p. 995, doi. 10.1002/humu.21537
By:
- Roux-Buisson, Nathalie;
- Rendu, John;
- Denjoy, Isabelle;
- Guicheney, Pascale;
- Goldenberg, Alice;
- David, Nadine;
- Faivre, Laurence;
- Barthez, Olivier;
- Danieli, Gian Antonio;
- Marty, Isabelle;
- Lunardi, Joel;
- Fauré, Julien
Publication type:
Article
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
Published in:
Human Mutation, 2008, v. 29, n. 5, p. 670, doi. 10.1002/humu.20696
By:
- Monnier, Nicole;
- Marty, Isabelle;
- Faure, Julien;
- Castiglioni, Claudia;
- Desnuelle, Claude;
- Sacconi, Sabrina;
- Estournet, Brigitte;
- Ferreiro, Ana;
- Romero, Norma;
- Laquerriere, Annie;
- Lazaro, Leila;
- Martin, Jean-Jacques;
- Morava, Eva;
- Rossi, Annick;
- Van der Kooi, Anneke;
- de Visser, Marianne;
- Verschuuren, Corien;
- Lunardi, Joël
Publication type:
Article
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Published in:
Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01400-0
By:
- Labasse, Clémence;
- Brochier, Guy;
- Taratuto, Ana-Lia;
- Cadot, Bruno;
- Rendu, John;
- Monges, Soledad;
- Biancalana, Valérie;
- Quijano-Roy, Susana;
- Bui, Mai Thao;
- Chanut, Anaïs;
- Madelaine, Angéline;
- Lacène, Emmanuelle;
- Beuvin, Maud;
- Amthor, Helge;
- Servais, Laurent;
- de Feraudy, Yvan;
- Erro, Marcela;
- Saccoliti, Maria;
- Neto, Osorio Abath;
- Fauré, Julien
Publication type:
Article
Endosome-to-cytosol transport of viral nucleocapsids.
Published in:
Nature Cell Biology, 2005, v. 7, n. 7, p. 653, doi. 10.1038/ncb1269
By:
- Le Blanc, Isabelle;
- Luyet, Pierre-Philippe;
- Pons, Véronique;
- Ferguson, Charles;
- Emans, Neil;
- Petiot, Anne;
- Mayran, Nathalie;
- Demaurex, Nicolas;
- Fauré, Julien;
- Sadoul, Rémy;
- Parton, Robert G.;
- Gruenberg, J.
Publication type:
Article
“Lowe syndrome: A particularly severe phenotype without clinical kidney involvement”.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 460, doi. 10.1002/ajmg.a.38572
By:
- Abdalla, Ebtesam;
- El‐Beheiry, Ahmed;
- Dieterich, Klaus;
- Thevenon, Julien;
- Fauré, Julien;
- Rendu, John
Publication type:
Article
7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2133, doi. 10.1002/ajmg.a.36566
By:
- Rendu, John;
- Satre, Véronique;
- Testard, Hervé;
- Devillard, Francoise;
- Vieville, Gaëlle;
- Fauré, Julien;
- Amblard, Florence;
- Jouk, Pierre‐Simon;
- Coutton, Charles
Publication type:
Article
Vortex cycles at the inner edges of dead zones in protoplanetary disks.
Published in:
Astronomy & Astrophysics / Astronomie et Astrophysique, 2015, v. 573, p. 1, doi. 10.1051/0004-6361/201424162
By:
- Faure, Julien;
- Fromang, Sébastien;
- Latter, Henrik;
- Meheut, Heloise
Publication type:
Article
Thermodynamics of the dead-zone inner edge in protoplanetary disks.
Published in:
Astronomy & Astrophysics / Astronomie et Astrophysique, 2014, v. 564, p. 1, doi. 10.1051/0004-6361/201321911
By:
- Faure, Julien;
- Fromang, Sébastien;
- Latter, Henrik
Publication type:
Article

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