| Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type C Nogueira, C Aiello, R Cerone, E Martins, U Caruso, I Moroni, C Rizzo, ... Molecular genetics and metabolism 93 (4), 475-480, 2008 | 110 | 2008 |
| Syndromes associated with mitochondrial DNA depletion C Nogueira, LS Almeida, C Nesti, I Pezzini, A Videira, L Vilarinho, ... Italian Journal of Pediatrics 40, 1-10, 2014 | 74 | 2014 |
| Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency C Nogueira, J Barros, MJ Sá, L Azevedo, R Taipa, A Torraco, ... Neurogenetics 14, 153-160, 2013 | 54 | 2013 |
| Methionine adenosyltransferase I/III deficiency in Portugal: high frequency of a dominantly inherited form in a small area of Douro High Lands E Martins, A Marcão, A Bandeira, H Fonseca, C Nogueira, L Vilarinho JIMD Reports-Case and Research Reports, 2012/3, 107-112, 2012 | 36 | 2012 |
| Lipid, oxidative and inflammatory profile and alterations in the enzymes paraoxonase and butyrylcholinesterase in plasma of patients with homocystinuria due CBS deficiency: the … CS Vanzin, CP Mescka, B Donida, TG Hammerschimidt, GS Ribas, ... Cellular and molecular neurobiology 35, 899-911, 2015 | 25 | 2015 |
| Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula M Mangas, C Nogueira, MJ Prata, L Lacerda, MJ Coll, G Soares, ... Clinical genetics 73 (3), 251-256, 2008 | 25 | 2008 |
| Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency SF Oliveira, L Pinho, H Rocha, C Nogueira, L Vilarinho, MJ Dinis, C Silva Clinics and practice 3 (2), e22, 2013 | 24 | 2013 |
| A Novel SUCLA2 Mutation in a Portuguese Child Associated With “Mild” Methylmalonic Aciduria C Nogueira, MC Meschini, C Nesti, P Garcia, L Diogo, C Valongo, ... Journal of Child Neurology 30 (2), 228-232, 2015 | 23 | 2015 |
| Molecular picture of cobalamin C/D defects before and after newborn screening era C Nogueira, A Marcão, H Rocha, C Sousa, H Fonseca, C Valongo, ... Journal of medical screening 24 (1), 6-11, 2017 | 19 | 2017 |
| Molecular investigation of pediatric portuguese patients with sensorineural hearing loss C Nogueira, M Coutinho, C Pereira, A Tessa, FM Santorelli, L Vilarinho Genetics research international 2011, 2011 | 17 | 2011 |
| Infantile-onset disorders of mitochondrial replication and protein synthesis C Nogueira, R Carrozzo, L Vilarinho, FM Santorelli Journal of Child Neurology 26 (7), 866-875, 2011 | 16 | 2011 |
| Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene AP Antunes, C Nogueira, H Rocha, L Vilarinho, T Evangelista Journal of Clinical Neuromuscular Disease 15 (2), 69-72, 2013 | 15 | 2013 |
| Identification of a new mtDNA mutation (14724G> A) associated with mitochondrial leukoencephalopathy C Pereira, C Nogueira, C Barbot, A Tessa, C Soares, F Fattori, ... Biochemical and biophysical research communications 354 (4), 937-941, 2007 | 15 | 2007 |
| LPIN1 deficiency: A novel mutation associated with different phenotypes in the same family D Nunes, C Nogueira, A Lopes, P Chaves, E Rodrigues, T Cardoso, ... Molecular genetics and metabolism reports 9, 29-30, 2016 | 14 | 2016 |
| Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained … C Nogueira, L Silva, C Pereira, L Vieira, EL Teles, E Rodrigues, ... Mitochondrion 47, 309-317, 2019 | 13 | 2019 |
| Newborn screening for homocystinuria revealed a high frequency of MAT I/III deficiency in Iberian Peninsula A Marcão, ML Couce, C Nogueira, H Fonseca, F Ferreira, JM Fraga, ... JIMD Reports, Volume 20, 113-120, 2015 | 13 | 2015 |
| MPV17: fatal hepatocerebral presentation in a Brazilian infant C Nogueira, C Souza, A Husny, T Derks, F Santorelli, L Vilarinho Molecular genetics and metabolism 107, 764-764, 2012 | 12 | 2012 |
| Molecular and clinical investigations on portuguese patients with multiple acyl-CoA dehydrogenase deficiency BJ Henriques, TG Lucas, E Martins, A Gaspar, A Bandeira, C Nogueira, ... Current Molecular Medicine 19 (7), 487-493, 2019 | 9 | 2019 |
| Iron‐sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3‐methylglutaconic aciduria MP Coelho, J Correia, A Dias, C Nogueira, A Bandeira, E Martins, ... JIMD reports 49 (1), 11-16, 2019 | 8 | 2019 |
| A new mtDNA–tRNAGlu mutation (14728T> C) presenting a late-onset mitochondrial encephalomyopathy C Nogueira, J Nunes, T Evangelista, F Fattori, A Tessa, C Pereira, ... Mitochondrion 7 (6), 396-398, 2007 | 8 | 2007 |
Luísa AzevedoPhD, Senior researcher at ICBAS and UMIB/ICBAS, University of PortoVerified email at ipatimup.pt
