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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 21 - 30 of 104

2017

The immunogenetics of narcolepsy associated with A(H1N1)pdm09 vaccination (Pandemrix) supports a potent gene-environment interaction.
I L Bomfim, F Lamb, K Fink, A Szakács, A Silveira et al.
Genes and immunity, Journal article 2017
Journal article

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Gillian I Rice, Naoki Kitabayashi, Magalie Barth, Tracy A Briggs, Annabel C E Burton et al.
Neuropediatrics, Journal article 2017
Journal article

Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes.
Kalliopi Sofou, Maria Dahlin, Tove Hallböök, Marie Lindefeldt, Gerd Viggedal et al.
Journal of inherited metabolic disease, Journal article 2017
Journal article

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols, Detelina Grozeva et al.
Nature genetics, Journal article 2017
Journal article

2016

Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.
Sabine Grønborg, Niklas Darin, Maria J Miranda, Bodil Damgaard, Jorge Asin-Cayuela et al.
JIMD reports, Journal article 2016
Journal article

A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency.
Carola Oldfors Hedberg, Niklas Darin, Mia Olsson Engman, Zacharias Orfanos, Christer Thomsen et al.
European journal of human genetics : EJHG, Journal article 2016
Journal article

Showing 21 - 30 of 104

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