Publicacions
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Ortez-Gonzalez CI, Natera-de Benito D, Carrera García L, Expósito J, Nolasco G and Nascimento-Osorio A.
Advances in the treatment of Duchenne muscular dystrophy
MEDICINA-BUENOS AIRES . 79: 77-81. Nº de cites: 4
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Natera-de Benito D, Ortez-Gonzalez CI, Carrera García L, Expósito J, Bobadilla E and Nascimento-Osorio A.
Diagnosis and treatment of congenital myopaties
MEDICINA-BUENOS AIRES . 79: 82-86. Nº de cites: 3
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Natera-de Benito D, Töpf A, Vilchez JJ, González-Quereda L, Domínguez-Carral J, Díaz-Manera J, Ortez-Gonzalez CI, Bestué M, Gallano P, Dusl M, Abicht A, Müller JS, Senderek J, García-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodríguez Cruz PM, Camacho Díaz JA, Jiménez E, Miranda-Herrero MC, Santana-Artiles A, García-Campos O, Dominguez-Rubio R, Olivé M, Colomer J, Beeson D, Lochmüller H and Nascimento-Osorio A.
Molecular characterization of congenital myasthenic syndromes in Spain
NEUROMUSCULAR DISORDERS . 27(12): 1087-1098. Nº de cites: 68
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Bestue-Cardiel M and Natera-de Benito D.
Current status of congenital myasthenic syndromes
REVISTA DE NEUROLOGIA . 65(4): 161-176. Nº de cites: 5
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Domínguez-Carral J, López-Pisón, J, Alfons Macaya, Campaña, MB, García-Pérez, MA and Natera-de Benito D.
Genetic testing among Spanish pediatric neurologists: Knowledge, attitudes and practices
European Journal of Medical Genetics . 60(2): 124-129. Nº de cites: 16
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Radio FC, Tasca G, Coppens S, Chillemi G, Whalen S, Marey I, Leoni C, Onesimo R, Deconinck N, D'Amico A, Remiche G, Nascimento-Osorio A, Ortez-Gonzalez CI, Jou-Munoz C, Lecomte S, Falsini B, Ciolfi A, Ferilli M, Cappelletti C, Niceta M, Gowda VK, Srinivasan VM, Vahidi Mehrjardi MY, Dadbinpour A, Movahedinia M, Firoozfar Z, Alavi S, Alibakhshi R, Ghazinader D, Mojarrad M, Rajati M, Keren B, Bertini ES, Zampino G, Natera-de Benito D, Maroofian R and Tartaglia M.
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly.
GENETICS IN MEDICINE . : 102558-102558.