• Clinical and genetic characterisation of adult onset leukoencephalopathy 

  LYNCH, David; PAIVA, Anderson Rodrigues Brandao de; ZHANG, Wei Jia; LAKSHMANAN, Rahul; DAVAGNANAM, Indran; FOX, Nick; MURPHY, Elaine; KOK, Fernando; CHATAWAY, Jeremy; HOULDEN, Henry (LIPPINCOTT WILLIAMS & WILKINS, PHILADELPHIA, USA, 2017)
• Clinicogenetic Lessons from 370 Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy 

  WINCKLER, Pablo Brea; SILVA, Andre M. S. da; COIMBRA-NETO, Antonio R.; CARVALHO, Elmano; CHWAL, Bruna Cristine; CAVALCANTI, Eduardo B. U.; SOBREIRA, Claudia F. R.; MARRONE, Carlo D.; MACHADO-COSTA, Macela Marcela C.; CARVALHO, Alzira Alzira A. S.; FEIO, Raimunda H. F.; RODRIGUES, Cleonisio L.; GONCALVES, Marcus V. M.; TENORIO, Renata B.; MENDONCA, Rodrigo H.; COTTA, Ana; PAIM, Julia F. O.; SILVA, Cynthia Costa e; CRUZ, Camila de Aquino; BENA, Marjory I.; BETANCUR, Daniel F. A.; HUSNY, Antonette S. El; SOUZA, Isabel C. N. de; DUARTE, Regina C. B.; REED, Umbertina C.; CHAVES, Marcia L. F.; ZANOTELI, Edmar; FRANCA, Marcondes C.; SAUTE, Jonas (LIPPINCOTT WILLIAMS & WILKINS, PHILADELPHIA, USA, 2020)
• Association 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. (WILEY, HOBOKEN, USA, 2020)
• FIREFISH Part 2: Efficacy and Safety of Risdiplam (RG7916) in Infants with Type 1 Spinal Muscular Atrophy (SMA) 

  SERVAIS, Laurent; BARANELLO, Giovanni; MASSON, Riccardo; MAZURKIEWICZ-BELDZINSKA, Maria; ROSE, Kristy; VLODAVETS, Dmitry; XIONG, Hui; ZANOTELI, Edmar; EL-KHAIRI, Muna; FUERST-RECKTENWALD, Sabine; GERBER, Marianne; GORNI, Ksenija; KLETZL, Heidemarie; SCALCO, Renata; DARRAS, Basil T. (LIPPINCOTT WILLIAMS & WILKINS, PHILADELPHIA, USA, 2020)
• FIREFISH Part 2: Efficacy and safety of risdiplam (RG7916) in infants with Type 1 spinal muscular atrophy (SMA) 

  SERVAIS, L.; BARANELLO, G.; MASSON, R.; MAZURKIEWICZ-BELDZINSKA, M.; ROSE, K.; VLODAVETS, D.; XIONG, H.; ZANOTELI, E.; EL-KHAIRI, M.; FUERST-RECKTENWALD, S.; GERBER, M.; GORNI, K.; KLETZL, H.; SCALCO, R.; DARRAS, B. T. (WILEY, HOBOKEN, USA, 2020)
• FDG-PET degeneration patterns predict amyloid deposition in Corticobasal Syndrome 

  PARMERA, J.; COUTINHO, A.; NETO, A.; ONO, C.; ARANHA, M.; BUCHPIGUEL, C.; NITRINI, R.; BARBOSA, E.; BRUCKI, S. (WILEY, HOBOKEN, USA, 2020)
• Effects of Aerobic Training on Cognition and Brain Glucose Metabolism in Subjects with Mild Cognitive Impairment 

  PORTO, Fabio Henrique de Gobbi; COUTINHO, Artur; DURAN, Fabio; PINTO, Ana; GUALANO, Bruno; BUCHPIGUEL, Carlos; NITRINI, Ricardo; BRUCKI, Sonia (LIPPINCOTT WILLIAMS & WILKINS, PHILADELPHIA, USA, 2017)
• Determinants of microcephaly in adults using data mining: increased risk for dementia and greater association with male gender 

  MANCINE, L.; SUEMOTO, C. K.; RODRIGUEZ, R. D.; LEITE, R. E. P.; NASCIMENTO, C.; FERRETI-REBUSTINI, R.; TEIXEIRA, J. D. M.; PASQUALUCCI, C. A.; NITRINI, R.; JACOB-FILHO, W.; GRINBERG, L.; SALVINI, R.; NUNES, P. V. (ELSEVIER, AMSTERDAM, NETHERLANDS, 2020)
• Analysing whole-exome sequencing data in a large cohort of sporadic inclusion body myositis and control individuals 

  GANG, Q.; BETTENCOURT, C.; MACHADO, P. M.; BRADY, S.; HOLTON, J. L.; HUGHES, D.; HEALY, E.; PARTON, M.; HILTON-JONES, D.; SHIEH, P. B.; NEEDHAM, M.; LIANG, C.; ZANOTELI, E.; CAMARGO, L. Valente de; PAEPE, B. De; BLEECKER, J. De; SHAIBANI, A.; RIPOLONE, M.; VIOLANO, R.; MOGGIO, M.; BAROHN, R. J.; DIMACHKIE, M. M.; MORA, M.; MANTEGAZZA, R.; ZANOTTI, S.; PITTMAN, A. M.; SINGLETON, A. B.; HANNA, M. G.; HOULDEN, H. (PERGAMON-ELSEVIER SCIENCE LTD, OXFORD, ENGLAND, 2016)
• Decompressive neurosurgery for patients with cerebral venous thrombosis. A prospective multicenter registry (DECOMPRESS2) 

  FERREIRA, J. M.; AARON, S.; KAMMEN, M. Sanchez van; CONFORTO, A.; ARAUZ, A.; CARVALHO, M.; MASJUAN, J.; SHARMA, V. K.; UYTTENBOOGAART, M.; WERRING, D.; BAZAN, R.; MOHINDRA, S.; PUTAALA, J.; WEBER, J.; SOUSA, D.; CANHAO, P.; COERT, B.; KIRUBAKARAN, P.; SINGH, P.; COUTINHO, J.; FERRO, J. M. (WILEY, HOBOKEN, USA, 2020)
• MUTATIONS IN UBE4A CAUSE A DNA-REPAIR DEFECT AND UNDERLIE A NOVEL AUTOSOMAL RECESSIVE INTELLECTUAL DISABILITY SYNDROME 

  BYERS, H.; MELO, U. Souto; BONNER, D.; HASHEM, M.; DONATO, N. Di; JAHN, A.; ALKURAYA, F.; KOK, F. (WILEY, HOBOKEN, USA, 2020)
• Hypokalaemic periodic paralysis due to a novel ATP1A2 mutation: a new periodic paralysis gene? 

  MATTHEWS, E.; ZANOTELI, E.; SCALCO, R. S.; O'CALLAGHAN, B.; SUD, R.; MCCALL, S.; HANNA, M. G.; CASTENADA, M. Sampedro; MANNIKKO, R.; POULSON, H. (PERGAMON-ELSEVIER SCIENCE LTD, OXFORD, ENGLAND, 2017)
• Arterial 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; BORTOLOTTO, Luiz (LIPPINCOTT WILLIAMS & WILKINS, PHILADELPHIA, USA, 2017)
• Increased cortisol reactivity predicts cognitive impairment not dementia during aging: a follow-up study 

  ALVES, Andrea Regiani; BRUCKI, Sonia Maria Dozzi; NITRINI, Ricardo; LUPIEN, Sonia J.; PLUSQUELLEC, Pierrich; SOUZA-TALARICO, Juliana Nery (PERGAMON-ELSEVIER SCIENCE LTD, OXFORD, ENGLAND, 2019)
• Amyloid-beta Deposition, Brain Metabolism and Neuropsychological Profile in Elderly with Subjective Cognitive Decline and SuperAgers 

  STUDART-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 (LIPPINCOTT WILLIAMS & WILKINS, PHILADELPHIA, USA, 2020)
• Increased Levels of Inflammatory Cytokines across Different Brain Regions in Bipolar Disorder and its Correlation With Cortisol and Neuropsychiatric Symptoms: A Post-Mortem Study 

  NUNES, Paula; NASCIMENTO, Camila; SUEMOTO, Claudia; RODRIGUEZ, Roberta; LEITE, Renata; GRINBERG, Lea; PASQUALUCCI, Carlos; NITRINI, Ricardo; JACOB-FILHO, Wilson; LAFER, Beny (ELSEVIER SCIENCE INC, NEW YORK, USA, 2020)
• Disrupted Genes Modules in the Hippocampus of Older Adults With Bipolar Disorder 

  NASCIMENTO, Camila; BARBOSA, Andre; NUNES, Paula; SUEMOTO, Claudia; LEITE, Renata; GRINBERG, Lea; PASQUALUCCI, Carlos; NITRINI, Ricardo; JACOB-FILHO, Wilson; BRENTANI, Helena; LAFER, Beny (ELSEVIER SCIENCE INC, NEW YORK, USA, 2020)
• Inflammatory factors (cytokines and cortisol) across different brain regions in bipolar disorder and their associations with neuropsychiatric symptoms: A post-mortem study 

  NASCIMENTO, Camila; NUNES, Paula V.; SUEMOTO, Claudia K.; RODRIGUEZ, Roberta D.; LEITE, Renata E. P.; GRINBERG, Lea T.; PASQUALUCCI, Carlos A.; NITRINI, Ricardo; JACOB-FILHO, Wilson; BRENTANI, Helena P.; LAFER, Beny (WILEY, HOBOKEN, USA, 2020)
• Deciphering Corticobasal Syndrome: are clinical features and FDG-PET imaging capable of predicting amiloyd status? 

  PARMERA, J.; COUTINHO, A.; NETO, A.; ARANHA, M.; ONO, C.; BUCHPIGUEL, C.; NITRINI, R.; BARBOSA, E.; BRUCKI, S. (WILEY, HOBOKEN, USA, 2019)
• A Brain PET staging system using Amyloid and Neurodegeneration Biomarkers for Individual Assessment in the Context of the 2018 NIA-AA Research Framework: an approach exploring clinical-biomarker mismatches and socio-demographic parameters 

  COUTINHO, A. M. N.; PORTO, F.; FARIA, D. de Paula; ONO, C. R.; GARCEZ, A. T.; SQUARZONI, P.; DURAN, F. L. S.; OLIVEIRA, M. O.; TRES, E. S.; BUCKI, S. M. D.; FORLENZA, O. V.; NITRINI, R.; BUSATTO FILHO, G.; BUCHPIGUEL, C. A. (SPRINGER, NEW YORK, USA, 2019)

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