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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 71 - 80 of 104

2009

SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.
Hanna Orlén, Atle Melberg, Raili Raininko, Eva Kumlien, Miriam Entesarian et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics , Journal article 2009
Journal article

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.
Gittan Kollberg, Niklas Darin, Karin Benan, Ali-Reza Moslemi, Sigurd Lindal et al.
Neuromuscular disorders : NMD, Journal article 2009
Journal article

2008

Syn- och ögonförändringar hos 59 barn och ungdomar med genetisk verifierad mitokondriell sjukdom
Antovan Seyedi Honarvar , S Andersson, Niklas Darin, Mar Tulinius, Ali-Reza Moslemi et al.
Svenska Läkarsällskapets Riksstämma, Göteborg, Sverige, 26-28 nov 2008. Poster, Poster 2008
Poster

Ophthalmologic findings in 60 children and young adults with genetically verified mitochondrial disease
Antovan Seyedi Honarvar , S Andersson, Niklas Darin, Mar Tulinius, Ali-Reza Moslemi et al.
The 7th European Meeting on Mitochondrial Pathology, Stockholm, 11-14 juni 2008. Poster, Poster 2008
Poster

New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations.
Monica Ohlsson, S Quijano-Roy, Niklas Darin, G Brochier, E Lacène et al.
Neurology, Journal article 2008
Journal article

The in-depth evaluation of suspected mitochondrial disease
R. H. Haas, S. Parikh, M. J. Falk, R. P. Saneto, N. I. Wolf et al.
Molecular Genetics and Metabolism, Journal article 2008
Journal article

2007

Showing 71 - 80 of 104

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