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Niklas Darin

Professor/ chief physician

Niklas Darin
Professor/ chief physician
niklas.darin@gu.se

Postal Address: Drottning silvias barn o ungdomsjukh, 41685 Göteborg
Visiting Address: Drottning silvias barn o ungdomsjukh , 41685 Göteborg


Department of Pediatrics at Institute of Clinical Sciences (More Information)
Drottning Silvias Barn O ungdomsjukh
416 85 Göteborg
Visiting Address: Drottning Silvias Barn O ungdomsjukh , 416 85 Göteborg

Latest publications

De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability
I. G. M. Wijnen, H. E. Veenstra-Knol, F. Vansenne, E. H. Gerkes, T. de Koning et al.
European Journal of Human Genetics, Journal article 2020
Journal article

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
O. Hikmat, K. Naess, M. Engvall, C. Klingenberg, M. Rasmussen et al.
Journal of Inherited Metabolic Disease, Journal article 2020
Journal article

Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network
J. M. Heard, C. Vrinten, M. Schlander, C. M. Bellettato, C. van Lingen et al.
Orphanet Journal of Rare Diseases, Journal article 2020
Journal article

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
G. I. Rice, S. Park, F. Gavazzi, L. A. Adang, L. A. Ayuk et al.
Human Mutation, Journal article 2020
Journal article

Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene.
Kristian Vestergaard Jensen, Maria Frid, Tommy Stödberg, Michela Barbaro, Anna Wedell et al.
JIMD reports, Journal article 2019
Journal article

Corrigendum: Altered Brain Microstate Dynamics in Adolescents With Narcolepsy.
Natasha M Drissi, Attila Szakacs, Suzanne T Witt, Anna Wretman, Martin Ulander et al.
Frontiers in human neuroscience, Journal article 2019
Journal article

Structural anomaly in the reticular formation in narcolepsy type 1, suggesting lower levels of neuromelanin
N. M. Drissi, M. Warntjes, A. Wessén, Attila Szakacs, Niklas Darin et al.
NeuroImage: Clinical, Journal article 2019
Journal article

Showing 31 - 40 of 104

2016

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.
Niklas Darin, Emma Reid, Laurence Prunetti, Lena Samuelsson, Ralf A Husain et al.
American journal of human genetics, Journal article 2016
Journal article

Altered Brain Microstate Dynamics in Adolescents with Narcolepsy
N. M. Drissi, Attila Szakacs, S. T. Witt, A. Wretman, M. Ulander et al.
Frontiers in Human Neuroscience, Journal article 2016
Journal article

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, Rene de Coo, Hernan Amartino et al.
Journal of inherited metabolic disease, Journal article 2016
Journal article

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
Juan Darío Ortigoza-Escobar, Marta Molero-Luis, Angela Arias, Alfonso Oyarzabal, Niklas Darin et al.
Brain : a journal of neurology, Journal article 2016
Journal article

2015

Ophthalmological and genetic findings in children with Leigh syndrome - a long-term follow-up
Susann Andersson, R Åkebrand, Antovan Seyedi Honarvar , Kalliopi Sofou, Niklas Darin et al.
WSPOS (World Society of Paediatric Ophthalmology and Strabismus), Barcelona, Spanien, 3-5 sept 2015., Poster 2015
Poster

Ophthalmological findings in children with Leigh syndrome - a long-term follow-up
Susann Andersson, R Åkebrand, Antovan Seyedi Honarvar , Kalliopi Sofou, Niklas Darin et al.
NPOG, Åland, Finland, 10-12 juni 2015. Föredrag., Conference contribution 2015
Conference contribution

Neuronal Antibodies in Children with or without Narcolepsy following H1N1-AS03 Vaccination
S. Thebault, P. Waters, M. D. Snape, D. Cottrell, Niklas Darin et al.
Plos One, Journal article 2015
Journal article

Showing 31 - 40 of 104

Page Manager: Katarina Olinder Eriksson|Last update: 10/1/2013
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