Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child von Sobreira, Inês, Sousa, Cátia, Raposo, Ana, Soares, M. Rita, Soudo, Ana, Dias, Ana Isabel

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Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes von Müller, Juliane S., Herczegfalvi, Agnes, Vilchez, Juan J., Colomer, Jaume, Bachinski, Linda L., Mihaylova, Violeta, Santos, Manuela, Schara, Ulrike, Deschauer, Marcus, Shevell, Michael, Poulin, Chantal, Dias, Ana, Soudo, Ana, Hietala, Marja, Äärimaa, Tuula, Krahe, Ralf, Karcagi, Veronika, Huebner, Angela, Beeson, David, Abicht, Angela, Lochmüller, Hanns

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Atrofia muscular espinhal: análise descritiva de uma série de casos von Mafalda Pires, Humberto Marreiros, Rita Cardoso Francisco, Ana Soudo, José Pedro Vieira

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