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Issue DateTitleAuthor(s)
2017A common CHRNE mutation (c.130dupG) in Brazilian patients with congenital myasthenic syndromeESTEPHAN, E.; SILVA, A.; MENDONCA, R.; CALDAS, V.; ZAMBON, A.; MARCHIORI, P.; HEISE, C.; REED, U.; ZANOTELI, E.
2014A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)VIEIRA, N. M.; NASLAVSKY, M. S.; LICINIO, L.; KOK, F.; SCHLESINGER, D.; VAINZOF, M.; SANCHEZ, N.; KITAJIMA, J. P.; GA, L.; CAVACANA, N., et al
2018ADAM23 effects in proliferative and invasive phenotype of glioblastoma cells.JANDREY, Elisa Helena Farias; BARNABE, Gabriela Filoso; INOUE, Lilian Tiemi; ASPRINO, Paula Fontes; SANTOS, Natalia Cristina; SHINJO, Sueli Mieko Oba; MARIE, Suely Kazue Nagahashi; FURNARI, Frank; CAMARGO, Anamaria Aranha; COSTA, Erico Tosoni
2016AMPA Receptor Antibody Encephalitis in a Young Man Associated with Atypical Findings. Case reportPINTO, Lecio; SIMABUKURO, Mateus; SPERA, Raphael; PARK, Marcelo; PAQUISI, Arlindo; PEDRUCI, Lucas; KUKITA, Camila; LUCATO, Leandro; CASTRO, Luiz; NITRINI, Ricardo
2020Amyloid-beta Deposition, Brain Metabolism and Neuropsychological Profile in Elderly with Subjective Cognitive Decline and SuperAgersSTUDART-NETO, Adalberto; COUTINHO, Artur; CARNEIRO, Camila de Godoi; MORAES, Natalia Cristina; SPERA, Raphael Ribeiro; YASSUDA, Monica Sanches; BRUCKI, Sonia Maria Dozzi; LEITE, Claudia; BUCHPIGUEL, Carlos; NITRINI, Ricardo
2016Analysing whole-exome sequencing data in a large cohort of sporadic inclusion body myositis and control individualsGANG, Q.; BETTENCOURT, C.; MACHADO, P. M.; BRADY, S.; HOLTON, J. L.; HUGHES, D.; HEALY, E.; PARTON, M.; HILTON-JONES, D.; SHIEH, P. B., et al
2016Analysis of Molecular Pathways by Rnaseq Following GDF15 Knockdown in Paediatric and Adult Glioblastoma Cell LinesBARONI, M.; MARIE, S.; FEDATTO, P.; ANDRADE, A.; SUAZO, V.; QUEIROZ, R.; TONE, L.; SCRIDELI, C. A.
2021ANCHOVY: A retrospective cohort study of the natural history of type 1 spinal muscular atrophy (SMA) using medical record dataZANOTELI, E.; CANCES, C.; VLODAVETS, D.; COMI, G.; MASSON, R.; MAZURKIEWICZ-BELDZINSKA, M.; SAITO, K.; DODMAN, A.; EL-KHAIRI, M.; GORNI, K., et al
2015Argyrophilic grain disease may delay cognitive decline in AD: an autopsy studyGRINBERG, Lea; RODRIGUEZ, Roberta; SUEMOTO, Claudia; MOLINA, Mariana; NASCIMENTO, Camila; LEITE, Renata; FERRETTI-REBUSTINI, Renata; FARFEL, Jose; HEINSEN, Helmut; NITRINI, Ricardo, et al
2016ARTERIAL STIFFNESS IS ASSOCIATED WITH LOWER PERFORMANCE ON THE COGNITIVE TESTS AT DIFFERENT DOMAINS IN HYPERTENSIVE PATIENTSMUELA, H. C. S.; COSTA-HONG, V.; MACHADO, M. F.; YASSUDA, M. S.; SHU, E. B. S.; MASSARO, A. R.; NITRINI, R.; BORTOLOTTO, L.
2017Arterial Stiffness is Associated With Lower Performance on the Cognitive Tests at Different Domains in Hypertensive Patients.MUELA, Henrique; COSTA-HONG, Valeria; MACHADO, Michel F.; MORAES, Natalia C.; MEMORIA, Claudia M.; YASSUDA, Monica S.; SHU, Edson B.; MASSARO, Ayrton R.; NITRINI, Ricardo; MANSUR, Alfredo, et al
2016Assessment of Diagnostic Value and Risks of Brain Biopsy in Neurologic DiseaseGUEDES, Bruno; SILVA, Andre; SOLLA, Davi; CASTRO, Luiz; SOARES-NETO, Herval; NETO, Adalberto Studart; TINONE, Gisela; GONCALVES, Marcia; FORTINI, Ida; NITRINI, Ricardo
2020Association of TTPA mutation and peripheral nerve involvement in Gait disturbances in Ataxia With Vitamin E Deficiency (AVED)SANTOS, D. dos; OLIVEIRA, C. de; KOK, F.
2015Ataxia and progressive myoclonic epilepsy associated with reduced ceramide synthase 1 (CERS1)AFONSO, C. O. M.; CAMPOS, M. L. S.; MENDES, V. L.; CAMPELO, C. L. C.; CAMILO, A. F. C.; CORREIA, C. E. R.; FIGUEIREDO, M. M.; KOK, F.; JUNIOR, C. O. G.
2018ATYPICAL AND UNCLASSIFIED CASES OF INFLAMMATORY MYOPATHIESSILVA, A. M. S.; MENDONCA, R. H.; ZANOTELI, E.
2017Atypical clinical features in central nervous system syphilis infection: A case series from a reference center in BrazilKUBOTA, G.; BARBOSA, B. J. Alencar Pires; GUSHI, R. Seikitsi; YACOUB, H. Ramos Daoud; NATALINO, R. Romera; GUEDES, B. Fukelmann; GOMES, H. Rodrigues; CASTRO, L. H. Martins; NITRINI, R.
2017Biallelic mutation in FDXIL leads to a complex phenotype: optic atrophy, reversible leukoencephalopathy, metabolic myopathy and axonal polyneuropathyGURGEL-GIANNETTI, J.; LYNCH, D.; PAIVA, A.; YAMAMOTO, G.; LUCATO, L.; AMORIM, S.; FREUA, F.; GIANNETTI, A.; RIPA, B.; MONTI, F., et al
2018Brachio-cervical inflammatory myopathy with lymphoid follicle-like structures in a patient with sclerodermaSILVA, A.; VIANNA, M.; MENDONCA, R.; ZANOTELI, E.
2016Brain atrophy and major depression in the elderly: results from a large autopsy studyNUNES, P. V.; SUEMOTO, C. K.; LEITE, R. P.; FERRETTI-REBUSTINI, R. E.; PASQUALUCCI, C. A.; NITRINI, R.; BRENTANI, H. P.; FARFEL, J. M.; OLIVEIRA, K. C.; GRINBERG, L. T., et al
2022Brain Health Signature in Superagers: A Multimodal Brain MRI StudyGODOY, Laiz de; STUDART-NETO, Adalberto; NITRINI, Ricardo; JAGER, Rolf; BISDAS, Sotirios; LEITE, Claudia da Costa