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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 41 - 50 of 104

2015

Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome.
Saskia B Wortmann, Peter M van Hasselt, Ivo Barić, Alberto Burlina, Niklas Darin et al.
Neuropediatrics, Journal article 2015
Journal article

2014

Epidemiology of lysosomal storage diseases in Sweden.
Malin Hult, Niklas Darin, Ulrika von Döbeln, Jan-Eric Månsson
Acta paediatrica (Oslo, Norway : 1992), Journal article 2014
Journal article

Electrophysiological, genetic, and ophthalmological findings in children
Susann Andersson, Åkebrand R, Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius et al.
ISCEV, Boston, USA, 20-24 juli 2014. Poster., Poster 2014
Poster

A multicenter study on Leigh syndrome: disease course and predictors of survival.
Kalliopi Sofou, Irenaeus F M De Coo, Pirjo Isohanni, Elsebet Ostergaard, Karin Naess et al.
Orphanet journal of rare diseases, Journal article 2014
Journal article

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Veerle Rc Eggens, Peter G Barth, Jikke-Mien F Niermeijer, Jonathan N Berg, Niklas Darin et al.
Orphanet journal of rare diseases, Journal article 2014
Journal article

2013

Cerebrospinal fluid biomarkers in neurological diseases in children.
Pashtun Shahim, Jan-Eric Månsson, Niklas Darin, Henrik Zetterberg, Niklas Mattsson
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, Review article 2013
Review article

Showing 41 - 50 of 104

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