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Results 1 - 10 of 1,764 for General Search
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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Ph.D. Dissertation
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Avaliação eletrofisiológica da junção neuromuscular em pacientes com miastenia congênita, miopatia congênita estrutural e miopatia mitocondrial: análise quantitativaCaldas, Vitor MarquesBiblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Faculdade de Medicina 2022-08-25Online access. The library also has physical copies. |
| 2 |
Material Type: Ph.D. Dissertation
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Estudo clínico, histológico e molecular na miopatia congênita nemalínica e na miopatia congênita com alterações mínimasMoreno, Cristiane De Araujo MartinsBiblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Faculdade de Medicina 2016-11-21Online access. The library also has physical copies. |
| 3 |
Material Type: Ph.D. Dissertation
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Avaliação não invasiva de modelos murinos para doenças musculares genéticasBach, Aurea Beatriz MartinsBiblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Instituto de Biociências 2015-05-12Online access. The library also has physical copies. |
| 4 |
Material Type: Ph.D. Dissertation
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Estudo clínico, histológico e molecular da miopatia centronuclearAbath Neto, Osório LopesBiblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Faculdade de Medicina 2014-10-02Online access. The library also has physical copies. |
| 5 |
Material Type: Article
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Congenital myopathies: disorders of excitation-contraction coupling and muscle contractionJungbluth, Heinz ; Treves, Susan ; Zorzato, Francesco ; Sarkozy, Anna ; Ochala, Julien ; Sewry, Caroline ; Phadke, Rahul ; Gautel, Mathias ; Muntoni, FrancescoNature reviews. Neurology, 2018-03, Vol.14 (3), p.151-167 [Peer Reviewed Journal]England: Nature Publishing GroupFull text available |
| 6 |
Material Type: Article
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X-linked myotubular myopathy: A prospective international natural history studyAnnoussamy, Mélanie ; Lilien, Charlotte ; Gidaro, Teresa ; Gargaun, Elena ; Chê, Virginie ; Schara, Ulrike ; Gangfuß, Andrea ; DʼAmico, Adele ; Dowling, James J ; Darras, Basil T ; Daron, Aurore ; Hernandez, Arturo ; de Lattre, Capucine ; Arnal, Jean-Michel ; Mayer, Michèle ; Cuisset, Jean-Marie ; Vuillerot, Carole ; Fontaine, Stéphanie ; Bellance, Rémi ; Biancalana, Valérie ; Buj-Bello, Ana ; Hogrel, Jean-Yves ; Landy, Hal ; Servais, LaurentNeurology, 2019-04, Vol.92 (16), p.e1852-e1867 [Peer Reviewed Journal]United States: American Academy of NeurologyFull text available |
| 7 |
Material Type: Article
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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic cluesBiancalana, Valérie ; Scheidecker, Sophie ; Miguet, Marguerite ; Laquerrière, Annie ; Romero, Norma B. ; Stojkovic, Tanya ; Abath Neto, Osorio ; Mercier, Sandra ; Voermans, Nicol ; Tanner, Laura ; Rogers, Curtis ; Ollagnon-Roman, Elisabeth ; Roper, Helen ; Boutte, Célia ; Ben-Shachar, Shay ; Lornage, Xavière ; Vasli, Nasim ; Schaefer, Elise ; Laforet, Pascal ; Pouget, Jean ; Moerman, Alexandre ; Pasquier, Laurent ; Marcorelle, Pascale ; Magot, Armelle ; Küsters, Benno ; Streichenberger, Nathalie ; Tranchant, Christine ; Dondaine, Nicolas ; Schneider, Raphael ; Gasnier, Claire ; Calmels, Nadège ; Kremer, Valérie ; Nguyen, Karine ; Perrier, Julie ; Kamsteeg, Erik Jan ; Carlier, Pierre ; Carlier, Robert-Yves ; Thompson, Julie ; Boland, Anne ; Deleuze, Jean-François ; Fardeau, Michel ; Zanoteli, Edmar ; Eymard, Bruno ; Laporte, JocelynActa neuropathologica, 2017-12, Vol.134 (6), p.889-904 [Peer Reviewed Journal]Berlin/Heidelberg: Springer Berlin HeidelbergFull text available |
| 8 |
Material Type: Article
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Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart AssociationFeingold, Brian ; Mahle, William T ; Auerbach, Scott ; Clemens, Paula ; Domenighetti, Andrea A ; Jefferies, John L ; Judge, Daniel P ; Lal, Ashwin K ; Markham, Larry W ; Parks, W James ; Tsuda, Takeshi ; Wang, Paul J ; Yoo, Shi-JoonCirculation (New York, N.Y.), 2017-09, Vol.136 (13), p.e200-e231 [Peer Reviewed Journal]United States: by the American College of Cardiology Foundation and the American Heart Association, IncFull text available |
| 9 |
Material Type: Article
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Characterization of congenital myopathies at a Korean neuromuscular centerPark, Young‐Eun ; Shin, Jin‐Hong ; Kim, Hyang‐Sook ; Lee, Chang‐Hoon ; Kim, Dae‐SeongMuscle & nerve, 2018-08, Vol.58 (2), p.235-244 [Peer Reviewed Journal]United States: Wiley Subscription Services, IncFull text available |
| 10 |
Material Type: Article
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A natural history study of X-linked myotubular myopathyAmburgey, Kimberly ; Tsuchiya, Etsuko ; de Chastonay, Sabine ; Glueck, Michael ; Alverez, Rachel ; Nguyen, Cam-Tu ; Rutkowski, Anne ; Hornyak, Joseph ; Beggs, Alan H ; Dowling, James JNeurology, 2017-09, Vol.89 (13), p.1355-1364 [Peer Reviewed Journal]United States: American Academy of NeurologyFull text available |
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