L
Luísa Diogo
Researcher at University of Coimbra
Publications - 73
Citations - 2179
Luísa Diogo is an academic researcher from University of Coimbra. The author has contributed to research in topics: Mitochondrial respiratory chain & Mutation. The author has an hindex of 24, co-authored 69 publications receiving 1871 citations. Previous affiliations of Luísa Diogo include Boston Children's Hospital.
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Journal ArticleDOI
Mitochondrial dysfunction in autism spectrum disorders: a population-based study
Guiomar Oliveira,Luísa Diogo,Manuela Grazina,Paula Garcia,Assunção Ataíde,C.C. Marques,Teresa S. Miguel,Luís Borges,Astrid M. Vicente,Catarina R. Oliveira +9 more
TL;DR: Five of 11 patients studied were classified with definite mitochondrial respiratory chain disorder, suggesting that this might be one of the most common disorders associated with autism and warranting further investigation.
Journal ArticleDOI
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations
Marjan E. Steenweg,Daniele Ghezzi,Tobias B. Haack,Truus E.M. Abbink,Diego Martinelli,Carola G.M. van Berkel,Annette Bley,Luísa Diogo,Eugenio Grillo,Johann te Water Naude,Tim M. Strom,Enrico Bertini,Holger Prokisch,Marjo S. van der Knaap,Massimo Zeviani +14 more
TL;DR: This new neurological disease, early-onset leukoencephalopathy with thalamus and brainstem involvement and high lactate, is hallmarked by unique magnetic resonance imaging features, defined by a peculiar biphasic clinical course and caused by mutations in a single gene, EARS2, expanding the list of medically relevant defects of mitochondrial DNA translation.
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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
J.M. van de Kamp,Ofir T. Betsalel,S Mercimek-Mahmutoglu,L Abulhoul,Stephanie Grunewald,Irina Anselm,H Azzouz,Drago Bratkovic,A.P.M. de Brouwer,Ben C.J. Hamel,Tjitske Kleefstra,Helger G. Yntema,Jaime Campistol,M. A. Vilaseca,David Cheillan,Marc D'Hooghe,Luísa Diogo,Paula Garcia,Carla Valongo,M Fonseca,Suzanna G.M. Frints,Bridget Wilcken,S von der Haar,Hanne Meijers-Heijboer,F Hofstede,Diana Johnson,Sarina G. Kant,L. Lion-François,Gaelle Pitelet,Nicola Longo,J A Maat-Kievit,J P Monteiro,Arnold Munnich,Ania C. Muntau,Marie-Cécile Nassogne,Hitoshi Osaka,Katrin Õunap,JM Pinard,S Quijano-Roy,I Poggenburg,Nicola K. Poplawski,Omar A. Abdul-Rahman,Antonia Ribes,Angela Arias,Joy Yaplito-Lee,A Schulze,Charles E. Schwartz,S Schwenger,G Soares,Yves Sznajer,Vassili Valayannopoulos,H Van Esch,S Waltz,M M C Wamelink,Petra J. W. Pouwels,A. Errami,M.S. van der Knaap,C. Jakobs,Grazia M.S. Mancini,Gajja S. Salomons +59 more
TL;DR: Evaluation of the biochemical phenotype revealed unexpected high creatine levels in cerebrospinal fluid suggesting that the brain is able to synthesise creatine and that the cerebral creatine deficiency is caused by a defect in the reuptake of creatine within the neurones.
Journal ArticleDOI
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Sylvia Stockler-Ipsiroglu,Clara D.M. van Karnebeek,Nicola Longo,G. Christoph Korenke,Saadet Mercimek-Mahmutoglu,Iris Marquart,Bruce A. Barshop,Christiane Grolik,Andrea Schlune,Brad Angle,Helena Caldeira Araújo,Turgay Coşkun,Luísa Diogo,Michael T. Geraghty,Goknur Haliloglu,Vassiliki Konstantopoulou,Vincenzo Leuzzi,Alina Levtova,Jennifer MacKenzie,Bruno Maranda,Aizeddin A. Mhanni,Grant A. Mitchell,Andrew P. Morris,Theresa Newlove,Deborah L. Renaud,Fernando Scaglia,Vassili Valayannopoulos,Francjan J. van Spronsen,K. T. Verbruggen,Nataliya Yuskiv,William L. Nyhan,Andreas Schulze +31 more
TL;DR: An observational GAMT database will be essential to identify the best treatment to reduce plasma guanidinoacetate levels and improve long-term outcomes.
Journal ArticleDOI
Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene.
Catarina Correia,Ana M. Coutinho,Luísa Diogo,Manuela Grazina,C.C. Marques,Teresa S. Miguel,Assunção Ataíde,Joana Almeida,Luís Borges,Catarina R. Oliveira,Guiomar Oliveira,Astrid M. Vicente,Astrid M. Vicente +12 more
TL;DR: It is concluded that while mitochondrial dysfunction may be one of the most common medical conditions associated with autism, variation at the SLC25A12 gene does not explain the high frequency of mitochondrial dysfunction markers and is not associated with autistic patients.