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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 81 - 90 of 104

2007

Electrophysiological findings in children and young adults with genetically verified mitochondrial disease
Marita Andersson Grönlund, Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, Susann Andersson
The European Pediatric Ophthalmology Society (EPOS), Portoroz, Slovenien, 4-6 okt 2007. Föredrag., Conference contribution 2007
Conference contribution

Ophthalmologic findings in 40 patients with mitochondrial diseases with known DNA mutation
Marita Andersson Grönlund, Antovan Seyedi Honarvar , E. Rudholm, Niklas Darin, Mar Tulinius et al.
American Association of Pediatric Ophthalmology and Strabismus (AAPOS), Seattle, Washington, USA, 11-15 april 2007. Poster., Poster 2007
Poster

Mitochondrial disease: a practical approach for primary care physicians.
Richard H Haas, Sumit Parikh, Marni J Falk, Russell P Saneto, Nicole I Wolf et al.
Pediatrics, Journal article 2007
Journal article

2006

Mitochondrial myopathy with retinal dystrophy and exercise intolerance in a sporadic patient with a G583A mutation in the mt tRNA phe gene
Marita Andersson Grönlund, Susann Andersson, Ali-Reza Moslemi, Mar Tulinius, E. Holme et al.
The European Pediatric Ophthalmology Society (EPOS), Viamora, Portugal, 6-7 okt 2006. Poster., Poster 2006
Poster

POLG1 mutations associated with progressive encephalopathy in childhood.
Gittan Kollberg, Ali-Reza Moslemi, Niklas Darin, Inger Nennesmo, Ingibjörg Bjarnadottir et al.
Journal of neuropathology and experimental neurology, Journal article 2006
Journal article

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy
Eva L Arkblad, Niklas Darin, Kerstin Berg, Eva Kimber, Göran Brandberg et al.
Neuromuscular disorders : NMD, Journal article 2006
Journal article

Showing 81 - 90 of 104

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