Works matching DE "CONGENITAL myasthenic syndromes"

Results: 183
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    New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41008-5
    By:
    • Masingue, Marion;
    • Cattaneo, Olivia;
    • Wolff, Nicolas;
    • Buon, Céline;
    • Sternberg, Damien;
    • Euchparmakian, Morgane;
    • Boex, Myriam;
    • Behin, Anthony;
    • Mamchaouhi, Kamel;
    • Maisonobe, Thierry;
    • Nougues, Marie-Christine;
    • Isapof, Arnaud;
    • Fontaine, Bertrand;
    • Messéant, Julien;
    • Eymard, Bruno;
    • Strochlic, Laure;
    • Bauché, Stéphanie
    Publication type:
    Article
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    New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41008-5
    By:
    • Masingue, Marion;
    • Cattaneo, Olivia;
    • Wolff, Nicolas;
    • Buon, Céline;
    • Sternberg, Damien;
    • Euchparmakian, Morgane;
    • Boex, Myriam;
    • Behin, Anthony;
    • Mamchaouhi, Kamel;
    • Maisonobe, Thierry;
    • Nougues, Marie-Christine;
    • Isapof, Arnaud;
    • Fontaine, Bertrand;
    • Messéant, Julien;
    • Eymard, Bruno;
    • Strochlic, Laure;
    • Bauché, Stéphanie
    Publication type:
    Article
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    Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.

    Published in:
    Acta Neuropathologica, 2022, v. 144, n. 4, p. 707, doi. 10.1007/s00401-022-02475-8
    By:
    • Jacquier, Arnaud;
    • Risson, Valérie;
    • Simonet, Thomas;
    • Roussange, Florine;
    • Lacoste, Nicolas;
    • Ribault, Shams;
    • Carras, Julien;
    • Theuriet, Julian;
    • Girard, Emmanuelle;
    • Grosjean, Isabelle;
    • Le Goff, Laure;
    • Kröger, Stephan;
    • Meltoranta, Julia;
    • Bauché, Stéphanie;
    • Sternberg, Damien;
    • Fournier, Emmanuel;
    • Kostera-Pruszczyk, Anna;
    • O'Connor, Emily;
    • Eymard, Bruno;
    • Lochmüller, Hanns
    Publication type:
    Article
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    Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature.

    Published in:
    Journal of Personalized Medicine, 2023, v. 13, n. 5, p. 798, doi. 10.3390/jpm13050798
    By:
    • De Rose, Domenico Umberto;
    • Ronci, Sara;
    • Caoci, Stefano;
    • Maddaloni, Chiara;
    • Diodato, Daria;
    • Catteruccia, Michela;
    • Fattori, Fabiana;
    • Bosco, Luca;
    • Pro, Stefano;
    • Savarese, Immacolata;
    • Bersani, Iliana;
    • Randi, Franco;
    • Trozzi, Marilena;
    • Meucci, Duino;
    • Calzolari, Flaminia;
    • Salvatori, Guglielmo;
    • Solinas, Agostina;
    • Dotta, Andrea;
    • Campi, Francesca
    Publication type:
    Article
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    ARGX-119 is an agonist antibody for human MuSK that reverses disease relapse in a mouse model of congenital myasthenic syndrome.

    Published in:
    Science Translational Medicine, 2024, v. 16, n. 765, p. 1, doi. 10.1126/scitranslmed.ado7189
    By:
    • Vanhauwaert, Roeland;
    • Oury, Julien;
    • Vankerckhoven, Bernhardt;
    • Steyaert, Christophe;
    • Jensen, Stine Marie;
    • Vergoossen, Dana L. E.;
    • Kneip, Christa;
    • Santana, Leah;
    • Lim, Jamie L.;
    • Plomp, Jaap J.;
    • Augustinus, Roy;
    • Koide, Shohei;
    • Blanchetot, Christophe;
    • Ulrichts, Peter;
    • Huijbers, Maartje G.;
    • Silence, Karen;
    • Burden, Steven J.
    Publication type:
    Article
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    Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.

    Published in:
    Neuropathology & Applied Neurobiology, 2024, v. 50, n. 1, p. 1, doi. 10.1111/nan.12952
    By:
    • vanden Brande, Laura;
    • Bauché, Stéphanie;
    • Pérez‐Guàrdia, Laura;
    • Sternberg, Damien;
    • Seferian, Andreea M.;
    • Malfatti, Edoardo;
    • Silva‐Rojas, Roberto;
    • Labasse, Clémence;
    • Chevessier, Frédéric;
    • Carlier, Pierre;
    • Eymard, Bruno;
    • Romero, Norma B.;
    • Laporte, Jocelyn;
    • Servais, Laurent;
    • Gidaro, Teresa;
    • Böhm, Johann
    Publication type:
    Article
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    LRP4 Is Critical for Neuromuscular Junction Maintenance.

    Published in:
    Journal of Neuroscience, 2014, v. 34, n. 42, p. 13892, doi. 10.1523/JNEUROSCI.1733-14.2014
    By:
    • Barik, Arnab;
    • Yisheng Lu;
    • Sathyamurthy, Anupama;
    • Bowman, Andrew;
    • Chengyong Shen;
    • Lei Li;
    • Wen-cheng Xiong;
    • Lin Mei
    Publication type:
    Article
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    Congenital myasthenic syndromes: A study of 15 cases.

    Published in:
    Neurology & Clinical Neuroscience, 2023, v. 11, n. 3, p. 127, doi. 10.1111/ncn3.12700
    By:
    • Khadilkar, Satish V.;
    • Oza, Harsh;
    • Dhonde, Pramod;
    • Patel, Bhagyadhan;
    • Singla, Madhu bala;
    • Patel, Riddhi;
    • Dastur, Rashna;
    • Gaitode, Pradnya;
    • Halani, Hiral;
    • Mansukhani, Khushnuma;
    • Dhonde, Mayura
    Publication type:
    Article