Found: 5

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  • Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.

    Published in:
    Neurological Sciences, 2024, v. 45, n. 3, p. 1225, doi. 10.1007/s10072-023-07128-6
    By:
    • Nóbrega, Paulo Ribeiro;
    • de Brito de Souza, Jorge Luiz;
    • Maurício, Rebeca Bessa;
    • de Paiva, Anderson Rodrigues Brandão;
    • Dias, Daniel Aguiar;
    • Camelo, Clara Gontijo;
    • Zanotelli, Edmar;
    • Schlesinger, David;
    • Braga-Neto, Pedro;
    • Moreno, Cristiane Araujo Martins
    Publication type:
    Article

  • Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy – a Genotype/Phenotype Correlation.

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 483, doi. 10.3233/JND-221638
    By:
    • Camelo, Clara Gontijo;
    • Artilheiro, Mariana Cunha;
    • Martins Moreno, Cristiane Araújo;
    • Ferraciolli, Suely Fazio;
    • Serafim Silva, André Macedo;
    • Fernandes, Tatiana Ribeiro;
    • Lucato, Leandro Tavares;
    • Rocha, Antônio José;
    • Reed, Umbertina Conti;
    • Zanoteli, Edmar
    Publication type:
    Article

  • GGPS1-associated muscular dystrophy with and without hearing loss.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 9, p. 1465, doi. 10.1002/acn3.51633
    By:
    • Kaiyrzhanov, Rauan;
    • Perry, Luke;
    • Rocca, Clarissa;
    • Zaki, Maha S.;
    • Hosny, Heba;
    • Martins Moreno, Cristiane Araujo;
    • Phadke, Rahul;
    • Zaharieva, Irina;
    • Camelo Gontijo, Clara;
    • Beetz, Christian;
    • Pini, Veronica;
    • Movahedinia, Mojtaba;
    • Zanoteli, Edmar;
    • DiTroia, Stephanie;
    • Vuillaumier-Barrot, Sandrine;
    • Isapof, Arnaud;
    • Mehrjardi, Mohammad Yahya Vahidi;
    • Ghasemi, Nasrin;
    • Sarkozy, Anna;
    • Muntoni, Francesco
    Publication type:
    Article

  • Genetic profile of Brazilian patients with LAMA2‐related dystrophies.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 3, p. 305, doi. 10.1111/cge.14538
    By:
    • Camelo, Clara Gontijo;
    • Moreno, Cristiane de Araujo Martins;
    • Artilheiro, Mariana da Cunha;
    • Fonseca, Alulin Tácio Quadros Monteiro;
    • Gurgel Gianetti, Juliana;
    • Barbosa, André Vinícius;
    • Donis, Karina Carvalho;
    • Saute, Jonas Alex Morales;
    • Pessoa, André;
    • Van der Linden, Hélio;
    • Gonçalves, Ana Rita Alcântara;
    • Kulikowski, Leslie Domenici;
    • Kok, Fernando;
    • Zanoteli, Edmar
    Publication type:
    Article

  • Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.

    Published in:
    Journal of Neurology, 2022, v. 269, n. 5, p. 2414, doi. 10.1007/s00415-021-10806-0
    By:
    • Quijano-Roy, Susana;
    • Haberlova, Jana;
    • Castiglioni, Claudia;
    • Vissing, John;
    • Munell, Francina;
    • Rivier, François;
    • Stojkovic, Tanya;
    • Malfatti, Edoardo;
    • Gómez García de la Banda, Marta;
    • Tasca, Giorgio;
    • Costa Comellas, Laura;
    • Benezit, Audrey;
    • Amthor, Helge;
    • Dabaj, Ivana;
    • Gontijo Camelo, Clara;
    • Laforêt, Pascal;
    • Rendu, John;
    • Romero, Norma B.;
    • Cavassa, Eliana;
    • Fattori, Fabiana
    Publication type:
    Article