Expanding the genotypic spectrum of Perrault syndrome von Demain, L.A.M., Urquhart, J.E., O'Sullivan, J., Williams, S.G., Bhaskar, S.S., Jenkinson, E.M., Lourenco, C.M., Heiberg, A., Pearce, S.H., Shalev, S.A., Yue, W.W., Mackinnon, S., Munro, K.J., Newbury‐Ecob, R., Becker, K., Kim, M.J., O' Keefe, R.T., Newman, W.G.

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G.P.113 What lies beneath: Progressive scoliosis unravelling a late onset Pompe disease presentation von Lourenco, C.M, Coelho, J, Marques, W

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Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene von Cury, G.K., Matte, U., Artigalás, O., Alegra, T., Velho, R.V., Sperb, F., Burin, M.G., Ribeiro, E.M., Lourenço, C.M., Kim, C.A., Valadares, E.R., Galera, M.F., Acosta, A.X., Schwartz, I.V.D.

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Detection of copy number variations in epilepsy using exome data von Tsuchida, N., Nakashima, M., Kato, M., Heyman, E., Inui, T., Haginoya, K., Watanabe, S., Chiyonobu, T., Morimoto, M., Ohta, M., Kumakura, A., Kubota, M., Kumagai, Y., Hamano, S.‐I., Lourenco, C.M., Yahaya, N.A., Ch'ng, G.‐S., Ngu, L.‐H., Fattal‐Valevski, A., Weisz Hubshman, M., Orenstein, N., Marom, D., Cohen, L., Goldberg‐Stern, H., Uchiyama, Y., Imagawa, E., Mizuguchi, T., Takata, A., Miyake, N., Nakajima, H., Saitsu, H., Miyatake, S., Matsumoto, N.

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Cross-cultural adaptation for use in Brazilian patients and analysis of the psychometric properties of the brief ataxia rating scale von Trindade, K.B.B, Okama, L.O, Algemiro, J.B.S, Toledo, F.O, Lourenço, C.M, Junior, W.M, Sobreira, C.F.R

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WITHDRAWN: Recommendations for evaluation and management of pain in patients with mucopolysaccharidosis in Latin America von Politei, J M, Gordillo-González, G, Guelbert, N, Souza, C F M, Lourenço, C M, Solano, M L, Junqueira, M M, Magalhães, T S P C, Martins, A M

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Carbohydrate counting in the nutritional treatment of Citrullinemia Type II: Case report von Silva, M.A, Navarro, A.M, Lourenço, C.M, Sicchieri, J.M.F

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DOENÇA ARTICULAR NA INTERFERONPATIA TIPO 1 RELACIONADA AO MDA‐5 ‐ UMA FORMA MENDELIANA DA ARTROPATIA DE JACCOUD von Souza, F.F.L., Carvalho, L.M., Ehmke, N., Ngoumou, G., Kitabayashi, N., Melki, I., Deigendesch, N., Nogueira-Barbosa, M.H., Ferriani, V., Louzada-Junior, P., Marques Junior, W., Lourenço, C.M., Horn, D., Kallinich, T., Stenzel, W., Rice, G.I., Crow, Y.J.

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Stability of aerobic granules during long-term bioreactor operation von Franca, Rita D.G., Pinheiro, Helena M., van Loosdrecht, Mark C.M., Lourenço, Nídia D.

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Multi-system neurological disease is common in patients with OPA1 mutations von Yu-Wai-Man, P., Griffiths, P.G., Gorman, G.S., Lourenco, C.M., Wright, A.F., Auer-Grumbach, M., Toscano, A., Musumeci, O., Valentino, M.L., Caporali, L., Lamperti, C., Tallaksen, C.M., Duffey, P., Miller, J., Whittaker, R.G., Baker, M.R., Jackson, M.J., Clarke, M.P., Dhillon, B., Czermin, B., Stewart, J.D., Hudson, G., Reynier, P., Bonneau, D., Marques, W., Lenaers, G., McFarland, R., Taylor, R.W., Turnbull, D.M., Votruba, M., Zeviani, M., Carelli, V., Bindoff, L.A., Horvath, R., Amati-Bonneau, P., Chinnery, P.F.

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Rapid Epidemic Expansion of Chikungunya Virus East/Central/South African Lineage, Paraguay von Giovanetti, Marta, Vazquez, Cynthia, Lima, Mauricio, Castro, Emerson, Rojas, Analia, Gomez de la Fuente, Andrea, Aquino, Carolina, Cantero, Cesar, Fleitas, Fatima, Torales, Juan, Barrios, Julio, Ortega, Maria J, Gamarra, Maria L, Villalba, Shirley, Alfonzo, Tania, Xavier, Joilson, Adelino, Talita, Fritsch, Hegger, Iani, Felipe C M, Pereira, Glauco C, de Oliveira, Carla, Schuab, Gabriel, Rodrigues, Evandra S, Kashima, Simone, Leite, Juliana, Gresh, Lionel, Franco, Leticia, Tegally, Houriiyah, Van Voorhis, Wesley C, Lessels, Richard, de Filippis, Ana Maria Bispo, Ojeda, Andrea, Sequera, Guillermo, Montoya, Romeo, Holmes, Edward C, de Oliveira, Tulio, Rico, Jairo M, Lourenço, José, Fonseca, Vagner, Alcantara, Luiz C J

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Semi-probabilistic calibration of material partial safety factors for the capacity assessment of existing masonry structures von Vadalà, Federica, da Silva, Luis C.M., Caliò, Ivo, Lourenço, Paulo B.

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The prognostic value of monocyte/ high-density lipoprotein ratio in chronic heart failure von Silva, C.M, Ferrao, D, Soares, P.R, Nogueira, F, Oliveira, D.M, Ferreira, A.I, Silva, J.E, Lume, M.J, Melo, N, Pereira, J, Lourenco, P, Araujo, J.P

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The monocyte/high-density lipoprotein ratio predicts coronary artery disease in heart failure von Silva, C.M, Ferrao, D, Soares, P.R, Nogueira, F, Oliveira, D.M, Ferreira, A.I, Silva, J.E, Lume, M.J, Melo, N, Pereira, J, Araujo, J.P, Lourenco, P

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Direct Evidence of Reversible Changes in Electrolyte and its Interplay with LiO2 Intermediate in Li‐O2 Batteries von Sousa, Bianca P., Lourenço, Tuanan C., Anchieta, Chayene G., Nepel, Thayane C. M., Filho, Rubens M., Da Silva, Juarez L. F., Doubek, Gustavo

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Probabilistic-based discrete model for the seismic fragility assessment of masonry structures von da Silva, Luis C.M., Milani, Gabriele, Lourenço, Paulo B.

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Experimental quasi-static out-of-plane test of a U-shaped brick masonry wall von Barontini, Alberto, Scacco, Jacopo, da Silva, Luis C.M., Vasconcelos, Graça, Lourenço, Paulo B., Milani, Gabriele

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Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin von Zatz, M, Pavanello, R.C.M, Lazar, M, Yamamoto, G.L, Lourenço, N.C.V, Cerqueira, A, Nogueira, L, Vainzof, M

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A remnant kidney surgery model in cats induces acute and chronic outcomes that mimic spontaneous chronic kidney disease von Schmiedt, Chad W, Beita, Keren G, Lourenço, Bianca N, Erickson, Maëva C M, Herrera, Courtney T, Rissi, Daniel R, Brown, Cathy A, Brown, Scott A

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Tuning aprotic solvent properties with long alkyl chain ionic liquid for lithium-based electrolytes von Lourenço, Tuanan C, Barros, Letícia M. S, Anchieta, Chayene G, Nepel, Thayane C. M, Júlio, Júlia P. O, Dias, Luis Gustavo, Filho, Rubens Maciel, Doubek, Gustavo, Da Silva, Juarez L. F

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