Hereditary myopathy with early respiratory failure: occurrence in various populations von Palmio, Johanna, Evilä, Anni, Chapon, Françoise, Tasca, Giorgio, Xiang, Fengqing, Brådvik, Björn, Eymard, Bruno, Echaniz-Laguna, Andoni, Laporte, Jocelyn, Kärppä, Mikko, Mahjneh, Ibrahim, Quinlivan, Rosaline, Laforêt, Pascal, Damian, Maxwell, Berardo, Andres, Taratuto, Ana Lia, Bueri, Jose Antonio, Tommiska, Johanna, Raivio, Taneli, Tuerk, Matthias, Gölitz, Philipp, Chevessier, Frederic, Sewry, Caroline, Norwood, Fiona, Hedberg, Carola, Schröder, Rolf, Edström, Lars, Oldfors, Anders, Hackman, Peter, Udd, Bjarne

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Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization von Bevilacqua, J. A., Monnier, N., Bitoun, M., Eymard, B., Ferreiro, A., Monges, S., Lubieniecki, F., Taratuto, A. L., Laquerrière, A., Claeys, K. G., Marty, I., Fardeau, M., Guicheney, P., Lunardi, J., Romero, N. B.

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'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies von Garibaldi, Matteo, Rendu, John, Brocard, Julie, Lacene, Emmanuelle, Fauré, Julien, Brochier, Guy, Beuvin, Maud, Labasse, Clemence, Madelaine, Angeline, Malfatti, Edoardo, Bevilacqua, Jorge Alfredo, Lubieniecki, Fabiana, Monges, Soledad, Taratuto, Ana Lia, Laporte, Jocelyn, Marty, Isabelle, Antonini, Giovanni, Romero, Norma Beatriz

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Vasculitic Peripheral Neuropathy, Differences Between Systemic and Non-Systemic Etiologies: A Case Series and Biopsy Report von Castiglione, J.I., Marrodan, M., Alessandro, L., Taratuto, A.L., Brand, P., Nogués, M., Barroso, F.

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Mitochondrial DNA depletion: Mutations in thymidine kinase gene with myopathy and SMA von MANCUSO, M, SALVIATI, L, GARCIA-ALVAREZ, M, MONZON, L, NAINI, A. B, HIRANO, M, BONILLA, E, TARATUTO, A. L, DIMAURO, S, VU, T. H, SACCONI, S, OTAEGUI, D, CAMANO, P, MARINA, A, BACMAN, S, MORAES, C. T, CARLO, J. R, GARCIA, M

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Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: Muscle biopsy and autopsy findings, biochemical and molecular genetic... von Taratuto, A.L, Akman, H.O, Saccoliti, M, Riudavets, M, Arakaki, N, Mesa, L, Sevlever, G, Goebel, H, DiMauro, S

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Characterization of brain tumors by MRS, DWI and Ki-67 labeling index von CALVAR, J. A, MELI, F. J, ROMERO, C, CALCAGNO, M. L, YANEZ, P, MARTINEZ, A. R, LAMBRE, H, TARATUTO, A. L, SEVLEVER, G

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Subependymal giant cell astrocytoma in children with tuberous sclerosis von CUCCIA, Vicente, ZUCCARO, Graciela, SOSA, Fidel, MONGES, Jorge, LUBIENIEKY, Fabiana, TARATUTO, Ana Lia

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Health professions and risk of sporadic Creutzfeldt-Jakob disease, 1965 to 2010 von Alcalde-Cabero, E, Almazan-Isla, J, Brandel, J P, Breithaupt, M, Catarino, J, Collins, S, Hayback, J, Hoftberger, R, Kahana, E, Kovacs, G G, Ladogana, A, Mitrova, E, Molesworth, A, Nakamura, Y, Pocchiari, M, Popovic, M, Ruiz-Tovar, M, Taratuto, Al, van Duijn, C, Yamada, M, Will, R G, Zerr, I, de Pedro Cuesta, J

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Multidrug resistance proteins in tuberous sclerosis and refractory epilepsy von Lazarowski, Alberto, Lubieniecki, Fabiana, Camarero, Sandra, Pomata, Hugo, Bartuluchi, Marcelo, Sevlever, Gustavo, Taratuto, Ana Lía

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myotilin Mutation Found in Second Pedigree with LGMD1A von Hauser, Michael A., Conde, Cecilia B., Kowaljow, Valeria, Zeppa, Guillermo, Taratuto, Ana L., Torian, Udana M., Vance, Jeffery, Pericak-Vance, Margaret A., Speer, Marcy C., Rosa, Alberto L.

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Congenital myopathies and related disorders von Taratuto, Ana Lia

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P2.9 LMNA-related congenital muscular dystrophy: Clinical, pathological and molecular findings von Monges, M.S, Lubieniecki, F, Quijano-Roy, S, Saccoliti, M, Romero, N.B, Richard, P, Taratuto, A.L

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G.P.120 FHL1-related Reducing Body Myopathy and Emery–Dreifuss muscular dystrophy: A comparative histoenzymological, immunohistochemical and ultrastructural study von Malfatti, E, Olivé, M, Taratuto, A.L, Richard, P, Bitoun, M, Brochier, G, Laforêt, P, Stojkovic, T, Alexianu, M, Maisonobe, T, Saccoliti, M, Prudhon, B, Lacène, E, Eymard, B, Fardeau, M, Bonne, G, Romero, N.B

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P2.10 A new form of congenital muscular dystrophy with subsarcolemmal inclusions arising from disintegrated myonuclei von Taratuto, A.L, Nelson, I, Olivé, M, Waisburg, H, Saccoliti, M, Beuvin, M, Chauveau, D, Richard, P, Voit, T, Bonne, G, Romero, N.B

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P3.36. Phenotypic spectrum in myopathies with tubular aggregates von Funk, F, Ceuterick-de Groote, C, Martin, J.J, Meinhardt, A, de Bleecker, J, de Jonghe, P, Taratuto, A.L, Saccoliti, M, Schröder, J.M, Schulz, J.B, Weis, J, Claeys, K.G

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Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease von TARATUTO, A. L, PICCARDO, P, GARCIA, A. M, CAPELLARI, S, XIE, Z, LUGARESI, E, GAMBETTI, P, DLOUHY, S. R, GHETTI, B, REICH, E. G, CHEN, S. G, SEVLEVER, G, SCHULTZ, M, LUZZI, A. A, RUGIERO, M, ABECASIS, G, ENDELMAN, M

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Enfermedad de Whipple: Múltiples recaídas sistémicas y neurológicas von Domínguez, R.O, Müller, C, Davolos, I, MacKeith, P, Arias, E, Taratuto, A.L

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Dysembryoplastic neuroepithelial tumor: morphological, immunocytochemical, and deoxyribonucleic acid analyses in a pediatric series von Taratuto, A L, Pomata, H, Sevlever, G, Gallo, G, Monges, J

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Echinococcosis von Taratuto, Ana Lia, Venturiello, Stella M.

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