C. Moreno

Missense variants in TUBA4A cause myo-tubulinopathies

Mridul Johari, Chiara Folland, Yoshihiko Saito, Machteld M. Oud et autres

Abstract Tubulinopathies encompass a wide spectrum of disorders resulting from variants in genes encoding α- and β-tubulins, the key components of microtubules. While previous studies have linked de novo or dominantly inherited TUBA4A missense variants to neurodegenerative phenotypes, including amyotrophic lateral sclerosis, …

au, jp, nl, gb, ru, us, it, fr, rs, bd, br, dk, fi (code pays fourni par la source)

11O Genetic profile of Brazilian patients with LAMA2-related dystrophies

C. Camelo, C. Moreno, Mariana Cunha Artilheiro, Angélica F Fonseca et autres

22P Clinical and ultrasonographic evaluation of dysphagia in patients with LAMA2-CMD

C. Camelo, Paula Sampaio, António Moreira, C. Moreno et autres

LAMA2-CMD is a rare autosomal recessive disease characterized by hypotonia, muscle weakness, and the inability to achieve independent gait. It imposes a considerable disease burden, including difficulty in weight gain and dysphagia. However, this disease burden has not been thoroughly assessed in …

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Eduardo de Paula Estephan, A. Zambon, P. Marchiori, Amanda Pereira da Silva et autres