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Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis.
Published in:
2016
By:
- Sousa, Rosa;
- Gonçalves, Cristina;
- Couto Guerra, Isabel;
- Costa, Emília;
- Fernandes, Ana;
- do Bom Sucesso, Maria;
- Azevedo, Joana;
- Rodriguez, Alfredo;
- Rius, Rocio;
- Seabra, Carlos;
- Ferreira, Fátima;
- Ribeiro, Letícia;
- Ferrão, Anabela;
- Castedo, Sérgio;
- Cleto, Esmeralda;
- Coutinho, Jorge;
- Carvalho, Félix;
- Barbot, José;
- Porto, Beatriz;
- Guerra, Isabel Couto
Publication type:
journal article
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Published in:
Human Genetics, 2020, v. 139, n. 10, p. 1325, doi. 10.1007/s00439-020-02176-w
By:
- Tucker, Elena J.;
- Rius, Rocio;
- Jaillard, Sylvie;
- Bell, Katrina;
- Lamont, Phillipa J.;
- Travessa, André;
- Dupont, Juliette;
- Sampaio, Lurdes;
- Dulon, Jérôme;
- Vuillaumier-Barrot, Sandrine;
- Whalen, Sandra;
- Isapof, Arnaud;
- Stojkovic, Tanya;
- Quijano-Roy, Susana;
- Robevska, Gorjana;
- van den Bergen, Jocelyn;
- Hanna, Chloe;
- Simpson, Andrea;
- Ayers, Katie;
- Thorburn, David R.
Publication type:
Article
Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants.
Published in:
Journal of Clinical Medicine, 2019, v. 8, n. 11, p. 2020, doi. 10.3390/jcm8112020
By:
- Rius, Rocio;
- Van Bergen, Nicole J.;
- Compton, Alison G.;
- Riley, Lisa G.;
- Kava, Maina P.;
- Balasubramaniam, Shanti;
- Amor, David J.;
- Fanjul-Fernandez, Miriam;
- Cowley, Mark J.;
- Fahey, Michael C.;
- Koenig, Mary K.;
- Enns, Gregory M.;
- Sadedin, Simon;
- Wilson, Meredith J.;
- Tan, Tiong Y.;
- Thorburn, David R.;
- Christodoulou, John
Publication type:
Article
Further delineation of achondroplasia–hypochondroplasia complex with long‐term survival.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1225, doi. 10.1002/ajmg.a.38660
By:
- González‐del Angel, Ariadna;
- Rius, Rocío;
- Alcántara‐Ortigoza, Miguel A.;
- Spector, Elaine;
- del Castillo, Victoria;
- Mata‐García, Luis Enrique
Publication type:
Article
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.
Published in:
Internal Medicine Journal, 2022, v. 52, n. 1, p. 110, doi. 10.1111/imj.15505
By:
- Sue, Carolyn M.;
- Balasubramaniam, Shanti;
- Bratkovic, Drago;
- Bonifant, Catherine;
- Christodoulou, John;
- Coman, David;
- Crawley, Karen;
- Edema‐Hildebrand, Fabienne;
- Ellaway, Carolyn;
- Ghaoui, Roula;
- Kava, Maina;
- Kearns, Lisa S.;
- Lee, Joy;
- Liang, Christina;
- Mackey, David A.;
- Murray, Sean;
- Needham, Merrilee;
- Rius, Rocio;
- Russell, Jacqui;
- Smith, Nicholas J.C.
Publication type:
Article
Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies.
Published in:
Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 3, p. 240, doi. 10.1002/jmd2.12280
By:
- Akesson, Lauren S.;
- Rius, Rocio;
- Brown, Natasha J.;
- Rosenbaum, Jeremy;
- Donoghue, Sarah;
- Stormon, Michael;
- Chai, Charmaine;
- Bordador, Esmeralda;
- Guo, Yiran;
- Hakonarson, Hakon;
- Compton, Alison G.;
- Thorburn, David R.;
- Amarasekera, Sumudu;
- Marum, Justine;
- Monaco, Alisha;
- Lee, Crystle;
- Chong, Belinda;
- Lunke, Sebastian;
- Stark, Zornitza;
- Christodoulou, John
Publication type:
Article
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 515, doi. 10.1002/acn3.725
By:
- Hayhurst, Hannah;
- de Coo, Irenaeus F. M.;
- Piekutowska‐Abramczuk, Dorota;
- Alston, Charlotte L.;
- Sharma, Sunil;
- Thompson, Kyle;
- Rius, Rocio;
- He, Langping;
- Hopton, Sila;
- Ploski, Rafal;
- Ciara, Elzbieta;
- Lake, Nicole J.;
- Compton, Alison G.;
- Delatycki, Martin B.;
- Verrips, Aad;
- Bonnen, Penelope E.;
- Jones, Simon A.;
- Morris, Andrew A.;
- Shakespeare, David;
- Christodoulou, John
Publication type:
Article
Any symptom, in any organ, at any age: A case report of multiple genetic diagnoses mimicking mitochondrial disease in an adult with kidney disease.
Published in:
Nephrology, 2022, v. 27, n. 7, p. 640, doi. 10.1111/nep.14023
By:
- Ratnayake, Chathri;
- Rius, Rocio;
- Wallis, Mathew;
- Raj, Rajesh;
- Christodoulou, John
Publication type:
Article
Identification of a novel pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family.
Published in:
2018
By:
- Rius, Rocío;
- González-del Angel, Ariadna;
- Velázquez-Aragön, José A.;
- Cordero-Guzmán, Luz M.;
- Munñoz-Hernández, Silvia E.;
- Alcántara-Ortigoza, Miguel A.;
- Velázquez-Aragón, José A;
- Muñoz-Hernández, Silvia E
Publication type:
Case Study
Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1970, doi. 10.1002/humu.24453
By:
- Rius, Rocio;
- Bennett, Neal K.;
- Bhattacharya, Kaustuv;
- Riley, Lisa G.;
- Yüksel, Zafer;
- Formosa, Luke E.;
- Compton, Alison G.;
- Dale, Russell C.;
- Cowley, Mark J.;
- Gayevskiy, Velimir;
- Al Tala, Saeed M.;
- Almehery, Abdulrahman A.;
- Ryan, Michael T.;
- Thorburn, David R.;
- Nakamura, Ken;
- Christodoulou, John
Publication type:
Article
Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.
Published in:
Genes, 2021, v. 12, n. 4, p. 607, doi. 10.3390/genes12040607
By:
- Rius, Rocio;
- Compton, Alison G.;
- Baker, Naomi L.;
- Welch, AnneMarie E.;
- Coman, David;
- Kava, Maina P.;
- Minoche, Andre E.;
- Cowley, Mark J.;
- Thorburn, David R.;
- Christodoulou, John
Publication type:
Article

Found: 11