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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

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

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

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 61 - 70 of 104

2012

Fortskridande hjärnsjukdomar
Niklas Darin, Jan-Eric Månsson
Barnmedicin, (red) K.Hanseus, H.Lagercrantz, T. Lindberg., Lund, Studentlitteratur, Chapter in book 2012
Chapter in book

2011

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.
Anu Suomalainen, Jenni M Elo, Kirsi H Pietiläinen, Anna H Hakonen, Ksenia Sevastianova et al.
Lancet neurology, Journal article 2011
Journal article

Corneal thickness in children and adolescents with mitochondrial disorders
Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, E. Rudholm, Marita Andersson Grönlund
Nordiska barnögonläkarmöte (NPOG), Selfors, Island, 28-29 sept, 2011. Föredrag., Conference contribution 2011
Conference contribution

Muscular dystrophies and congenital myopathies in childhood
Brynja Kristin Thorarinsdottir, Mar Tulinius, Niklas Darin
Neuromuscular Disorders, Poster 2011
Poster

Systemic administration of PRO051 in Duchenne's muscular dystrophy.
Nathalie M Goemans, Mar Tulinius, Johanna T van den Akker, Brigitte E Burm, Peter F Ekhart et al.
The New England journal of medicine, Magazine article 2011
Magazine article

2010

Ophthalmological findings in patients with mitochondrial diseases divided into infantile or juvenile onset
Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
Svenska Läkarsällskapets Riksstämma, Göteborg, Sverige, 1-3 dec 2010. Föredrag., Conference contribution 2010
Conference contribution

2009

Showing 61 - 70 of 104

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