Browsing "Artigos e Materiais de Revistas Científicas - LIM/15" by Title
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| Issue Date | Title | Author(s) |
|---|---|---|
| 2019 | 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015 | DONKERVOORT, Sandra; DOWLING, James J.; LAPORTE, Jocelyn; MACARTHUR, Daniel; BONNEMANN, Carsten G.; BEGGS, Alan; BONNE, Gisele; BONNEMANN, Carsten; DONKERVOORT, Sandra; DOWLING, James, et al |
| 2011 | A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia | FANGANIELLO, R. D.; KIMONIS, V. E.; CORTE, C. C.; NITRINI, R.; PASSOS-BUENO, M. R. |
| 2018 | A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation | SHINJO, Samuel Katsuyuki; OBA-SHINJO, Sueli Mieko; LERARIO, Antonio Marcondes; MARIE, Suely Kazue Nagahashi |
| 2018 | A Brazilian-Portuguese version of the Kinesthetic and Visual Motor Imagery Questionnaire | DEMANBORO, Alan; STERR, Annette; ANJOS, Sarah Monteiro dos; CONFORTO, Adriana Bastos |
| 2018 | A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome | ESTEPHAN, Eduardo de Paula; SOBREIRA, Claudia Ferreira da Rosa; SANTOS, Andre Cleriston Jose dos; TOMASELLI, Pedro Jose; MARQUES JR., Wilson; ORTEGA, Roberta Paiva Magalhes; COSTA, Marcela Camara Machado; SILVA, Andre Macedo Serafim da; MENDONCA, Rodrigo Holanda; CALDAS, Vitor Marques, et al |
| 2014 | A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G) | VIEIRA, Natassia M.; NASLAVSKY, Michel S.; LICINIO, Luciana; KOK, Fernando; SCHLESINGER, David; VAINZOF, Mariz; SANCHEZ, Nury; KITAJIMA, Joao Paulo; GAL, Lihi; CAVACANA, Natale, et al |
| 2013 | A endogamia explicaria a elevada prevalência de deficiências em populações do Nordeste brasileiro? | SANTOS, Silvana Cristina dos; MELO, Uira Souto; LOPES, Simone Silva dos Santos; WELLER, Mathias; KOK, Fernando |
| 2015 | A game of hide and seek: Is it possible to recruit more patients for NIBS studies in stroke? | POTTER-BAKER, Kelsey A.; BONNETT, Corin E.; CHABRA, Patrick; ROELLE, Sarah; VARNERIN, Nicole; CUNNINGHAM, David A.; SANKARASUBRAMANIAN, Vishwanath; PUNDIK, Svetlana; CONFORTO, Adriana B.; MACHADO, Andre, et al |
| 2016 | A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability | FIGUEIREDO, T.; MELO, U. S.; PESSOA, A. L. S.; NOBREGA, P. R.; KITAJIMA, J. P.; RUSCH, H.; VAZ, F.; LUCATO, L. T.; ZATZ, M.; KOK, F., et al |
| 2018 | A novel complex neurological phenotype due to a homozygous mutation in FDX2 | GURGEL-GIANNETTI, Juliana; LYNCH, David S.; PAIVA, Anderson Rodrigues Brandao de; LUCATO, Leandro Tavares; YAMAMOTO, Guilherme; THOMSEN, Christer; BASU, Somsuvro; FREUA, Fernando; GIANNETTI, Alexandre Varella; ASSIS, Bruno Della Ripa de, et al |
| 2016 | A novel GFAP mutation in a type II (late-onset) Alexander disease patient | PAIVA, Anderson Rodrigues Brandao de; FREUA, Fernando; LUCATO, Leandro Tavares; PARMERA, Jacy; DORIA, Denise; NOBREGA, Paulo Ribeiro; OLAVIO, Thiago Rosa; MACEDO-SOUZA, Lucia Ines; KOK, Fernando |
| 2012 | A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features | MOLIN, A-M; ANDRIEUX, J.; KOOLEN, D. A.; MALAN, V.; CARELLA, M.; COLLEAUX, L.; CORMIER-DAIRE, V.; DAVID, A.; LEEUW, N. de; DELOBEL, B., et al |
| 2016 | A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels | NETO, Osorio Abath; SILVA, Marina Rodrigues e; MARTINS, Cristiane de Araujo; OLIVEIRA, Acary de Souza Bulle; REED, Umbertina Conti; BIANCALANA, Valerie; PESQUERO, Joao Bosco; LAPORTE, Jocelyn; ZANOTELI, Edmar |
| 2011 | A Useful and Brief Cognitive Assessment for Advanced Dementia in a Population with Low Levels of Education | SALES, Manuela V. C.; SUEMOTO, Claudia K.; NITRINI, Ricardo; JACOB-FILHO, Wilson; MORILLO, Lilian S. |
| 2022 | Aberrant Protein Glycosylation in Brain Cancers, with Emphasis on Glioblastoma | ROSA-FERNANDES, L.; OBA-SHINJO, S. M.; MACEDO-DA-SILVA, J.; MARIE, S. K. N.; PALMISANO, G. |
| 2023 | Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related <i>RYR1</i> mutations | SONNE, Alexander; ANTONOVIC, Anna Katarina; MELHEDEGAARD, Elise; AKTER, Fariha; ANDERSEN, Jesper L.; JUNGBLUTH, Heinz; WITTING, Nanna; VISSING, John; ZANOTELI, Edmar; FORNILI, Arianna, et al |
| 2022 | Access to rehabilitation after stroke in Brazil (AReA study): multicenter study protocol | CACHO, Roberta de Oliveira; MORO, Carla Heloisa Cabral; BAZAN, Rodrigo; GUARDA, Suzete Nascimento Farias da; PINTO, Elen Beatriz; ANDRADE, Suellen Mary Marinho dos Santos; VALLER, Lenise; ALMEIDA, Kelson James; RIBEIRO, Tatiana Souza; JUCA, Renata Viana Brigido de Moura, et al |
| 2018 | The Accuracy of INECO Frontal Screening in the Diagnosis of Executive Dysfunction in Frontotemporal Dementia and Alzheimer Disease | BAHIA, Valeria S.; CECCHINI, Mario A.; CASSIMIRO, Luciana; VIANA, Rene; LIMA-SILVA, Thais B.; SOUZA, Leonardo Cruz de; CARVALHO, Viviane Amaral; GUIMARAES, Henrique C.; CARAMELLI, Paulo; BALTHAZAR, Marcio L. F., et al |
| 2014 | Activation of EGFR signaling from pilocytic astrocytomas to glioblastomas | CARVALHO, Priscila O.; UNO, Miyuki; OBA-SHINJO, Sueli M.; ROSEMBERG, Sergio; WAKAMATSU, Alda; SILVA, Clemar C. da; TEIXEIRA, Manoel J.; MARIE, Suely K. N. |
| 2023 | Activation of Hedgehog signaling by the oncogenic RELA fusion reveals a primary cilia-dependent vulnerability in supratentorial ependymoma | MAGALHAES, Taciani de Almeida; CRUZEIRO, Gustavo Alencastro Veiga; SOUSA, Graziella Ribeiro de; ENGLINGER, Bernhard; NAGANO, Luis Fernando Peinado; ANCLIFFE, Mathew; SILVA, Keteryne Rodrigues da; JIANG, Li; GOJO, Johannes; LIU, Yulu Cherry, et al |