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Niklas Darin
Professor/ Chief Physician
Department of Pediatrics-
Liver Involvement in POLG Disease—a Multicentre Cohort Study of 202
Patients
Erle Kristensen, Karin Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen, Eylert Brodtkorb, Elsebet Ostergaard, Irenaeus de Coo, Leticia Pias-Peleteiro, Pirjo Isohanni, Johanna Uusimaa, Kari Majamaa, Mikko Kärppä, Mika H. Martikainen, Juan Dario Ortigoza-Escobar, Trine Tangeraas, Siren Berland, Carolyn M. Sue, Judith Sylvia Walker, Emma Harrison, Heather Biggs, Rita Horvath, Niklas Darin, Shamima Rahman, Omar Hikmat
Journal of Inherited Metabolic Disease - 2025 -
Incidence and Prevalence of Congenital Myopathies - A Population-Based Study From Western
Sweden
Eva Michael, Carola Hedberg Oldfors, Mar Tulinius, Sara Nordström, Anders Oldfors, Niklas Darin
Annals of Neurology - 2025 -
Soft X-ray spectromicroscopy of human fibroblasts with impaired sialin
function
Tuomas Mansikkala, Salla M. Kangas, Ilkka Miinalainen, Pia Angervaniva, Niklas Darin, Maria K. Blomqvist, Reetta Hinttala, Marko Huttula, Johanna Uusimaa, Minna Patanen
RSC ADVANCES - 2024 -
Status epilepticus in POLG disease: a large multinational
study
Omar Hikmat, Karin Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen, Eylert Brodtkorb, Elsebet Ostergaard, Irenaeus de Coo, Leticia Pias-Peleteiro, Pirjo Isohanni, Johanna Uusimaa, Kari Majamaa, Mikko Kaerppae, Juan Dario Ortigoza-Escobar, Trine Tangeraas, Siren Berland, Emma Harrison, Heather Biggs, Rita Horvath, Niklas Darin, Shamima Rahman, Laurence A. Bindoff
JOURNAL OF NEUROLOGY - 2024 -
Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1
carriers
Antri Savvidou, Kalliopi Sofou, Erik A. Eklund, Johan Aronsson, Niklas Darin
EUROPEAN JOURNAL OF NEUROLOGY - 2024 -
Correlation of mitochondrial respiration in platelets, peripheral blood mononuclear cells and muscle
fibers
Emil Westerlund, Sigurður E. Marelsson, Michael Karlsson, Fredrik Sjövall, Imen Chamkha, Eleonor Åsander Frostner, Johan Lundgren, Vineta Fellman, Erik A. Eklund, Katarina Steding-Ehrenborg, Niklas Darin, Gesine Paul, Magnus J. Hansson, Johannes K. Ehinger, Eskil Elmér
Heliyon - 2024 -
Enasidenib treatment in two individuals with D-2-hydroxyglutaric aciduria carrying a germline IDH2
mutation
B. Geoerger, M. Schiff, V. Penard-Lacronique, Niklas Darin, S. M. Saad, C. Duchon, A. Lamaziere, A. Desmons, C. Pontoizeau, P. Berlanga, S. Ducassou, K. Yen, M. Su, D. Schenkein, C. Ottolenghi, S. De Botton
Nature Medicine - 2023 -
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU
variants
G. F. Vogel, Y. Mozer-Glassberg, Y. E. Landau, L. D. Schlieben, H. Prokisch, R. G. Feichtinger, J. A. Mayr, H. Brennenstuhl, J. Schroter, A. Pechlaner, F. S. Alkuraya, J. J. Baker, G. Barcia, I. Baric, N. Braverman, B. Burnyte, J. Christodoulou, E. Ciara, D. Coman, A. M. Das, Niklas Darin, A. Della Marina, F. Distelmaier, E. A. Eklund, M. Ersoy, W. Y. Fang, P. Gaignard, R. D. Ganetzky, E. Gonzales, C. Howard, J. Hughes, V. Konstantopoulou, M. Kose, M. Kerr, A. Khan, D. Lenz, R. McFarland, M. G. Margolis, K. Morrison, T. Muller, K. Murayama, E. Nicastro, A. Pennisi, H. Peters, D. Piekutowska-Abramczuk, A. Rotig, R. Santer, F. Scaglia, M. Sehiff, M. Shagrani, M. Sharrard, C. Soler-Alfonso, C. Staufner, I. Storey, M. Stormon, R. W. Taylor, D. R. Thorburn, E. L. Teles, J. S. Wang, D. Weghuber, S. Wortmann
Genetics in Medicine - 2023 -
Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and
anemia
Carola Oldfors Hedberg, Sanhita Mitra, Antonio Molinaro, Kittichate Visuttijai, Linda Fogelstrand, Anders Oldfors, Fredrik H Sterky, Niklas Darin
European Journal of Human Genetics - 2023 -
Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C
variant
Sara Roos, Carola Oldfors Hedberg, Kittichate Visuttijai, M. Stein, Gittan Kollberg, O. Eliasdottir, C. Lindberg, Niklas Darin, Anders Oldfors
Brain Pathology - 2022 -
Parental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family
resilience
Mattias Krantz, Emma Malm, Niklas Darin, Kalliopi Sofou, Antri Savvidou, Colin Reilly, Petra Boström
Child: Care, Health and Development - 2022 -
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency- results from a nation-wide population-based
study.
Antri Savvidou, Liz Ivarsson, Karin Naess, Erik A Eklund, Johan Lundgren, Maria Dahlin, Deborah Frithiof, Kalliopi Sofou, Niklas Darin
Journal of inherited metabolic disease - 2022 -
Drug-induced hyperthermia with rhabdomyolysis in CLN3
disease
Antri Savvidou, Elizabeth Jennions, S. Wikstrom, M. Olsson-Engman, Kalliopi Sofou, Niklas Darin
European Journal of Paediatric Neurology - 2022 -
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic
myopathy
M. Schwantje, M. S. Ebberink, M. Doolaard, J. P. N. Ruiter, S. A. Fuchs, Niklas Darin, Carola Oldfors Hedberg, L. Regal, L. D. Kaat, H. H. Huidekoper, S. Olpin, D. Cole, S. J. Moat, G. Visser, S. Ferdinandusse
Journal of Inherited Metabolic Disease - 2022 -
Clinical course of patients with single large-scale mtDNA deletions and childhood onset
anemia
Kristoffer Björkman, John Vissing, Elsebet Østergaard, Irenaeus de Coo, Martin Engvall, Omar Hikmat, Pirjo Isohanni, Gittan Kollberg, Karin Naess, Johanna Uusimaa, Laurence A Bindoff, Mar Tulinius, Niklas Darin
14th European Paediatric Neurology Society Congress, Glasgow, UK (ISBN 978-3-00-072065-9) - 2022 -
Renal Phenotype in Mitochondrial Diseases: A Multicenter
Study
M. Parasyri, Per Brandström, J. Uusimaa, E. Ostergaard, O. Hikmat, P. Isohanni, K. Naess, I. F. M. de Coo, A. N. Osorio, M. Nuutinen, C. Lindberg, L. A. Bindoff, Mar Tulinius, Niklas Darin, Kalliopi Sofou
Kidney Diseases - 2022 -
Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like
disease.
Kalliopi Sofou, Kolja Meier, Leslie E Sanderson, Debora Kaminski, Laia Montoliu-Gaya, Emma Samuelsson, Maria K. Blomqvist, Lotta Agholme, Jutta Gärtner, Chris Mühlhausen, Niklas Darin, Tahsin Stefan Barakat, Lars Schlotawa, Tjakko van Ham, Jorge Asin-Cayuela, Fredrik H Sterky
EMBO molecular medicine - 2021 -
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre
study.
Kristoffer Björkman, John Vissing, Elsebet Østergaard, Laurence A Bindoff, Irenaeus F M de Coo, Martin Engvall, Omar Hikmat, Pirjo Isohanni, Gittan Kollberg, Christopher Lindberg, Kari Majamaa, Karin Naess, Johanna Uusimaa, Mar Tulinius, Niklas Darin
Journal of Medical Genetics - 2021 -
Expanding the phenotypic spectrum of BCS1L-related mitochondrial
disease
O. Hikmat, P. Isohanni, N. Keshavan, M. P. Ferla, E. Fassone, M. A. Abbott, M. Bellusci, Niklas Darin, D. Dimmock, D. Ghezzi, H. Houlden, F. Invernizzi, N. B. K. Jaman, M. A. Kurian, E. Morava, K. Naess, J. D. Ortigoza-Escobar, S. Parikh, A. Pennisi, G. Barcia, K. B. Tylleskar, D. Brackman, S. B. Wortmann, J. C. Taylor, L. A. Bindoff, V. Fellman, S. Rahman
Annals of Clinical and Translational Neurology - 2021 -
Endocrine and metabolic aspects of narcolepsy type 1 in
children
Attila Szakacs, Jovanna Dahlgren, J. Eklund, A. S. Aronson, Tove Hallböök, Niklas Darin
European Journal of Paediatric Neurology - 2021 -
Functional analysis of a novel POL gamma A mutation associated with a severe perinatal mitochondrial
encephalomyopathy
Niklas Darin, Triinu Siibak, Bradley Peter, Carola Oldfors Hedberg, Gittan Kollberg, Vassili Kalbin, Ali-Reza Moslemi, Bertil Macao, Anders Oldfors, Maria Falkenberg
Neuromuscular Disorders - 2021 -
Diagnostic value of serum biomarkersFGF21andGDF15compared to muscle sample in mitochondrial
disease
J. M. Lehtonen, M. Auranen, Niklas Darin, Kalliopi Sofou, L. Bindoff, O. Hikmat, J. Uusimaa, P. Vieira, Mar Tulinius, T. Lonnqvist, I. F. de Coo, A. Suomalainen, P. Isohanni
Journal of Inherited Metabolic Disease - 2021 -
Genetic and phenotypic spectrum associated with IFIH1
gain-of-function
G. I. Rice, S. Park, F. Gavazzi, L. A. Adang, L. A. Ayuk, L. Van Eyck, L. Seabra, C. Barrea, R. Battini, A. Belot, S. Berg, T. B. de Villemeur, A. E. Bley, L. Blumkin, O. Boespflug-Tanguy, T. A. Briggs, E. Brimble, R. C. Dale, Niklas Darin, F. G. Debray, V. De Giorgis, J. Denecke, D. Doummar, G. D. af Hagelsrum, D. Eleftheriou, M. Estienne, E. Fazzi, F. Feillet, J. Galli, N. Hartog, J. Harvengt, B. Heron, D. Heron, D. A. Kelly, D. Lev, V. Levrat, J. H. Livingston, I. Marti, C. Mignot, F. Mochel, M. C. Nougues, I. Oppermann, B. Perez-Duenas, B. Popp, M. P. Rodero, D. Rodriguez, V. Saletti, C. Sharpe, D. Tonduti, G. Vadlamani, K. Van Haren, M. T. Vila, J. Vogt, E. Wassmer, A. Wiedemann, C. J. Wilson, A. Zerem, C. Zweier, S. M. Zuberi, S. Orcesi, A. L. Vanderver, S. Hur, Y. J. Crow
Human Mutation - 2020 -
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric
Cores
S. Donkervoort, C. E. Kutzner, Y. Hu, X. Lornage, J. Rendu, T. Stojkovic, J. Baets, S. B. Neuhaus, J. Tanboon, R. Maroofian, V. Bolduc, M. Mroczek, S. Conijn, N. L. Kuntz, A. Topf, S. Monges, F. Lubieniecki, R. M. McCarty, K. R. Chao, S. Governali, J. Bohm, K. Boonyapisit, E. Malfatti, T. Sangruchi, I. Horkayne-Szakaly, Carola Oldfors Hedberg, S. Efthymiou, S. Noguchi, S. Djeddi, A. Iida, G. di Rosa, C. Fiorillo, V. Salpietro, Niklas Darin, J. Faure, H. Houlden, Anders Oldfors, I. Nishino, W. de Ridder, V. Straub, W. Pokrzywa, J. Laporte, A. R. Foley, N. B. Romero, C. Ottenheijm, T. Hoppe, C. G. Bonnemann
American Journal of Human Genetics - 2020 -
COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8
mutation
Carola Oldfors Hedberg, Niklas Darin, Christer Thomsen, C. Lindberg, Anders Oldfors
Neurology-Genetics - 2020 -
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, C. M. E. Tallaksen, E. Brodtkorb, E. Ostergaard, I. F. M. de Coo, L. Pias-Peleteiro, P. Isohanni, J. Uusimaa, Niklas Darin, S. Rahman, L. A. Bindoff
Journal of Inherited Metabolic Disease - 2020 -
The impact of gender, puberty, and pregnancy in patients with POLG
disease
O. Hikmat, K. Naess, M. Engvall, C. Klingenberg, M. Rasmussen, C. M. E. Tallaksen, C. Samsonsen, E. Brodtkorb, E. Ostergaard, R. de Coo, L. Pias-Peleteiro, P. Isohanni, J. Uusimaa, Niklas Darin, S. Rahman, L. A. Bindoff
Annals of Clinical and Translational Neurology - 2020 -
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, Y. J. Vos, M. A. J. Tijssen, D. Sival, Niklas Darin, E. K. Vanhoutte, M. Oosterloo, M. Pennings, B. P. van de Warrenburg, E. J. Kamsteeg
European Journal of Human Genetics - 2020 -
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, M. Scarpa, G. Matthijs, M. C. Nassogne, F. G. Debray, D. Roland, T. Chamova, V. Kozich, J. Pavel, M. Zenker, C. Lampe, A. M. Das, J. Hennermann, S. Kolker, N. Weinhold, K. Mohnike, S. Gruenert, A. M. Lund, M. Morales-Conejo, M. del Toro-Riera, L. Aldamiz-Echevarria, M. T. Garcia-Silva, M. Schiff, L. Gouya, P. Labrune, P. de Lonlay, N. Belmatoug, D. P. Germain, A. Cano, D. Dobbelaere, S. Jones, C. Dawson, P. Deegan, S. Santra, S. Vijay, D. P. Ramadza, I. Baric, T. Aigman, G. Pflieger, K. Szakszon, R. Kaposta, S. Gasperini, A. Burlina, G. Parenti, P. Strisciuglio, G. Ceccarini, A. Federico, A. Simonati, B. Tumiene, H. Huidekoper, F. van Spronsen, A. Bosch, M. E. Rubio-Gozalbo, G. Visser, T. Tangeraas, A. Aarsand, B. Kiec-Wilk, Amsm Gaspar, D. Quelhas, E. Leao-Teles, O. Azevedo, Emfr Silva, Lmdfd Matos, E. Martins, S. Lajic, Niklas Darin, U. Groselj, M. Z. Tansek
Orphanet Journal of Rare Diseases - 2020 -
Research activity and capability in the European reference network
MetabERN
Jean-Michel Heard, Cinzia Bellettato, Corine van Lingen, Maurizio Scarpa, Francois-Guillaume Debray, Marie-Cecile Nassogne, Rudy van Coster, Linda De Meirleir, Francois Eyskens, Eva Morava, Ivo Baric, Viktor Kozich, Allan Meldgaard Lund, Dominique Germain, Nadia Belmatoug, Nathalie Guffon, Philippe Labrune, Laurent Gouya, Pascale De Lonlay, Manuel Schiff, Dries Dobbelaere, Brigitte Chabrol, Ursula Ploeckinger, Anihb Martin Das, Ute Spiekerkoetter, Frank Rutsch, Klaus Mohnike, Andreas Hahn, Stefan Kolker, Kurt Ullrich, Julia Hennermann, Istvan Balogh, Bruno Bembi, Maria Alice Donati, Serena Gasperini, Giancarlo Parenti, Alessandro Salviati, Carlo-Dionisi Vici, Maja Di Rocco, Graziella Cefalo, Alberto Burlina, Giovanni Ceccarini, Antonio Federico, Ans Van der Ploeg, Maria-Estela Rubio-Gozalbo, Francian Van Spronsen, Gepke Visser, Annet Bosch, Trine Tangeraas, Sverre Sanderberg, Beata Kiec-Wilk, Ana-Maria Simoes Mendes Gaspar, Esmeralda Martins, Esmeralda-Maria Ferreira Rodrigues Silva, Luisa-Maria De Abreu Freire Diogo Matos, Olga Azevedo, Mojca-Zerjav Tansek, Maria-Luz Couce-Pico, Angeles Garcia Cazorla, Luis Aldamiz-Echevarria Azuara, Mireia Del Toro-Riera, Maria-Teresa Garcia Silva, Svetlana Lajic, Niklas Darin, Patrick Deegan, Suresh Vijay, Efstathia Chronopolou, Simon Jones, Anupanm Chakrapani, Tarekegn Hiwot
ORPHANET JOURNAL OF RARE DISEASES - 2019 -
Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3
mutations
Eva Michael, Carola Oldfors Hedberg, Philip Wilmar, Kittichate Visuttijai, Anders Oldfors, Niklas Darin
Neuromuscular Disorders - 2019 -
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, Tove Hallböök, A. M. Landtblom, H. Gauffin, M. Engström
NeuroImage: Clinical - 2019 -
A population-based and case-controlled study of children and adolescents with narcolepsy: Health-related quality of life, adaptive behavior and parental
stress
Attila Szakacs, John Chaplin, P. Tideman, Ulf Strömberg, J. Nilsson, Tove Hallböök, Niklas Darin
European Journal of Paediatric Neurology - 2019 -
Cerebrospinal fluid neurofilament light is associated with survival in mitochondrial disease
patients.
Kalliopi Sofou, Pashtun Shahim, Mar Tulinius, Kaj Blennow, Henrik Zetterberg, Niklas Mattsson, Niklas Darin
Mitochondrion - 2019 -
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, Mette Christensen, Mads Bak, Jakob Ek, Camilla Gøbel Madsen, Niklas Darin, Sabine Grønborg
JIMD reports - 2019 -
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy
metabolism.
Elizabeth Jennions, Carola Oldfors Hedberg, Anna-Karin Berglund, Gittan Kollberg, Carl-Johan Törnhage, Erik A Eklund, Anders Oldfors, Patrick Verloo, Arnaud V Vanlander, Linda De Meirleir, Sara Seneca, Fredrik H Sterky, Niklas Darin
Journal of inherited metabolic disease - 2019 -
Corrigendum: Altered Brain Microstate Dynamics in Adolescents With
Narcolepsy.
Natasha M Drissi, Attila Szakacs, Suzanne T Witt, Anna Wretman, Martin Ulander, Henriettae Ståhlbrandt, Niklas Darin, Tove Hallböök, Anne-Marie Landtblom, Maria Engström
Frontiers in human neuroscience - 2019 -
Unexpected Fat Distribution in Adolescents With
Narcolepsy
N. M. Drissi, T. Romu, A. M. Landtblom, A. Szakacs, Tove Hallböök, Niklas Darin, M. Borga, O. D. Leinhard, M. Engstrom
Frontiers in Endocrinology - 2018 -
Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic
implications.
Omar Hikmat, Karin Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen, Chantal M E Tallaksen, Eylert Brodtkorb, Torunn Fiskerstrand, Pirjo Isohanni, Johanna Uusimaa, Niklas Darin, Shamima Rahman, Laurence A Bindoff
Epilepsia - 2018 -
Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96
patients.
Kalliopi Sofou, Irenaeus F M de Coo, Elsebet Ostergaard, Pirjo Isohanni, Karin Naess, Linda De Meirleir, Charalampos Tzoulis, Johanna Uusimaa, Tuula Lönnqvist, Laurence Albert Bindoff, Mar Tulinius, Niklas Darin
Journal of medical genetics - 2018 -
γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in
GGT1.
Niklas Darin, Karin Leckström, Per Sikora, Julia Lindgren, Gabriella Almén, Jorge Asin-Cayuela
European journal of human genetics : EJHG - 2018 -
Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial
disease.
Emil Westerlund, Sigurður E Marelsson, Johannes K Ehinger, Fredrik Sjövall, Saori Morota, Eleonor Åsander Frostner, Anders Oldfors, Niklas Darin, Johan Lundgren, Magnus J Hansson, Vineta Fellman, Eskil Elmér
Pediatric research - 2018 -
The development of a health-related quality-of-life instrument for young people with narcolepsy:
NARQoL-21
John Chaplin, Attila Szakacs, Tove Hallböök, Niklas Darin
Health and Quality of Life Outcomes - 2017 -
Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in
MTTL1.
Niklas Darin, Carola Oldfors Hedberg, Anna-Karin Kroksmark, Ali-Reza Moslemi, Gittan Kollberg, Anders Oldfors
European journal of neurology - 2017 -
Progressive deafness–dystonia due to SERAC1 mutations: A study of 67
cases
R. R. Maas, K. Iwanicka-Pronicka, S. Kalkan Ucar, B. Alhaddad, M. AlSayed, M. A. Al-Owain, H. I. Al-Zaidan, S. Balasubramaniam, I. Barić, D. K. Bubshait, A. Burlina, J. Christodoulou, W. K. Chung, R. Colombo, Niklas Darin, P. Freisinger, M. T. Garcia Silva, S. Grunewald, T. B. Haack, P. M. van Hasselt, O. Hikmat, F. Hörster, P. Isohanni, K. Ramzan, R. Kovacs-Nagy, Z. Krumina, E. Martin-Hernandez, J. A. Mayr, P. McClean, L. De Meirleir, K. Naess, L. H. Ngu, M. Pajdowska, S. Rahman, G. Riordan, L. Riley, B. Roeben, F. Rutsch, R. Santer, M. Schiff, M. Seders, S. Sequeira, W. Sperl, C. Staufner, M. Synofzik, R. W. Taylor, J. Trubicka, K. Tsiakas, O. Unal, E. Wassmer, Y. Wedatilake, T. Wolff, H. Prokisch, E. Morava, E. Pronicka, R. A. Wevers, A. P. de Brouwer, S. B. Wortmann
Annals of Neurology - 2017 -
Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the
literature.
Carola Oldfors Hedberg, Niklas Darin, Anders Oldfors
Neuromuscular disorders : NMD - 2017 -
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, Maria Luisa Carpanelli, Alfredo M Cerisola, Cindy Colson, Russell C Dale, Federica Rachele Danti, Niklas Darin, Begoña De Azua, Valentina De Giorgis, Christian G L De Goede, Isabelle Desguerre, Corinne De Laet, Atieh Eslahi, Michael C Fahey, Penny Fallon, Alex Fay, Elisa Fazzi, Mark P Gorman, Nirmala Rani Gowrinathan, Marie Hully, Manju A Kurian, Nicolas Leboucq, Jean-Pierre S-M Lin, Matthew A Lines, Soe S Mar, Reza Maroofian, Laura Martí-Sanchez, Gary McCullagh, Majid Mojarrad, Vinodh Narayanan, Simona Orcesi, Juan Dario Ortigoza-Escobar, Belén Pérez-Dueñas, Florence Petit, Keri M Ramsey, Magnhild Rasmussen, François Rivier, Pilar Rodríguez-Pombo, Agathe Roubertie, Tommy I Stödberg, Mehran Beiraghi Toosi, Annick Toutain, Florence Uettwiller, Nicole Ulrick, Adeline Vanderver, Amy Waldman, John H Livingston, Yanick J Crow
Neuropediatrics - 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, L Franzén, V Azhary, M Maeurer, N Feltelius, Niklas Darin, Tove Hallböök, L Arnheim-Dahlström, I Kockum, T Olsson
Genes and immunity - 2017 -
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage
disease.
Maja Tarailo-Graovac, Britt I Drögemöller, Wyeth W Wasserman, Colin J D Ross, Ans M W van den Ouweland, Niklas Darin, Gittan Kollberg, Clara D M van Karnebeek, Maria K. Blomqvist
Orphanet journal of rare diseases - 2017 -
Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term
outcomes.
Kalliopi Sofou, Maria Dahlin, Tove Hallböök, Marie Lindefeldt, Gerd Viggedal, Niklas Darin
Journal of inherited metabolic disease - 2017
More publications
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