A
Alberta A H J Thiadens
Researcher at Erasmus University Rotterdam
Publications - 54
Citations - 1837
Alberta A H J Thiadens is an academic researcher from Erasmus University Rotterdam. The author has contributed to research in topics: Medicine & Retinitis pigmentosa. The author has an hindex of 21, co-authored 43 publications receiving 1427 citations. Previous affiliations of Alberta A H J Thiadens include Radboud University Nijmegen & Radboud University Nijmegen Medical Centre.
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Journal ArticleDOI
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
Alberta A H J Thiadens,Alberta A H J Thiadens,Anneke I. den Hollander,Anneke I. den Hollander,Susanne Roosing,Sander B. Nabuurs,Renate C. Zekveld-Vroon,Rob W.J. Collin,Rob W.J. Collin,Elfride De Baere,Robert K. Koenekoop,Mary J. van Schooneveld,Tim M. Strom,Janneke J.C. van Lith-Verhoeven,Andrew J. Lotery,Norka van Moll-Ramirez,Bart P. Leroy,L. Ingeborgh van den Born,Carel B. Hoyng,Frans P.M. Cremers,Frans P.M. Cremers,Caroline C W Klaver +21 more
TL;DR: The findings identify PDE6C as a gene for cone photoreceptor disorders and show that arCD and ACHM constitute genetically and clinically overlapping phenotypes.
Journal ArticleDOI
Progressive loss of cones in Achromatopsia: an imaging study using spectral-domain optical coherence tomography.
Alberta A H J Thiadens,Ville Somervuo,L. Ingeborgh van den Born,Susanne Roosing,Mary J. van Schooneveld,Mary J. van Schooneveld,Robert W A M Kuijpers,Norka van Moll-Ramirez,Frans P.M. Cremers,Carel B. Hoyng,Caroline C W Klaver +10 more
TL;DR: The present results imply that intervention should be applied in the first decade of ACHM, which is not a stationary disease and the first signs of cone cell loss occur in early childhood.
Journal ArticleDOI
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Riccardo Sangermano,Alejandro Garanto,Mubeen Khan,Esmee H. Runhart,Miriam Bauwens,Nathalie M. Bax,L. Ingeborgh van den Born,Muhammad Imran Khan,Stéphanie S. Cornelis,Joke B. G. M. Verheij,Jan Willem R. Pott,Alberta A H J Thiadens,Caroline C W Klaver,Caroline C W Klaver,Bernard Puech,Isabelle Meunier,Sarah Naessens,Gavin Arno,Gavin Arno,Ana Fakin,Ana Fakin,Keren J. Carss,Keren J. Carss,F. Lucy Raymond,F. Lucy Raymond,Andrew R. Webster,Andrew R. Webster,Claire Marie Dhaenens,Heidi Stöhr,Felix Grassmann,Felix Grassmann,Bernhard H. F. Weber,Carel B. Hoyng,Elfride De Baere,Silvia Albert,Rob W.J. Collin,Frans P.M. Cremers +36 more
TL;DR: Remarkably, antisense oligonucleotides targeting the aberrant splice processes resulted in (partial) correction of all splicing defects, showing the great potential of splice modulation therapy for deep-intronic variants.
Journal ArticleDOI
Causes and consequences of inherited cone disorders.
Susanne Roosing,Alberta A H J Thiadens,Carel B. Hoyng,Caroline C W Klaver,Anneke I. den Hollander,Frans P.M. Cremers +5 more
TL;DR: Future research will aim to elucidate the remaining causative genes, identify the molecular mechanisms of CD, and develop novel therapies aimed at preventing vision loss in individuals with CD in the future.
Journal ArticleDOI
Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone-Rod Dystrophy
Alberta A H J Thiadens,Alberta A H J Thiadens,T. My Lan Phan,Renate C. Zekveld-Vroon,Bart P. Leroy,L. Ingeborgh van den Born,Carel B. Hoyng,Caroline C W Klaver,Susanne Roosing,Jan-Willem R. Pott,Mary J. van Schooneveld,Norka van Moll-Ramirez,Maria M. van Genderen,Camiel J. F. Boon,Anneke I. den Hollander,Arthur A.B. Bergen,Elfride De Baere,Frans P.M. Cremers,Andrew J. Lotery +18 more
TL;DR: Although CD had a slightly more favorable clinical course than CRD, both disorders progressed to legal blindness in the majority of patients, and mutations in the ABCA4 gene and early onset of disease were independent prognostic parameters for visual loss.