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- Niklas Darin
Niklas Darin
Professor/ Chief Physician
Department of-
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 -
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 -
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, Agnel P Joseph, Niccolo E Mencacci, Apostolos Papandreou, Joanne Ng, Serena Barral, Adeline Ngoh, Hilla Ben-Pazi, Michel A Willemsen, David Arkadir, Angela Barnicoat, Hagai Bergman, Sanjay Bhate, Amber Boys, Niklas Darin, Nicola Foulds, Nicholas Gutowski, Alison Hills, Henry Houlden, Jane A Hurst, Zvi Israel, Margaret Kaminska, Patricia Limousin, Daniel Lumsden, Shane McKee, Shibalik Misra, Shekeeb S Mohammed, Vasiliki Nakou, Joost Nicolai, Magnus Nilsson, Hardev Pall, Kathryn J Peall, Gregory B Peters, Prab Prabhakar, Miriam S Reuter, Patrick Rump, Reeval Segel, Margje Sinnema, Martin Smith, Peter Turnpenny, Susan M White, Dagmar Wieczorek, Sarah Wiethoff, Brian T Wilson, Gidon Winter, Christopher Wragg, Simon Pope, Simon J H Heales, Deborah Morrogh, Alan Pittman, Lucinda J Carr, Belen Perez-Dueñas, Jean-Pierre Lin, Andre Reis, William A Gahl, Camilo Toro, Kailash P Bhatia, Nicholas W Wood, Erik-Jan Kamsteeg, Wui K Chong, Paul Gissen, Maya Topf, Russell C Dale, Jonathan R Chubb, F Lucy Raymond, Manju A Kurian
Nature genetics - 2017 -
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome
predictors
J. D. Ortigoza-Escobar, M. Alfadhel, M. Molero-Luis, Niklas Darin, R. Spiegel, I. F. de Coo, M. Gerards, R. W. Taylor, R. Artuch, M. Nashabat, P. Rodríguez-Pombo, B. Tabarki, B. Pérez-Dueñas, F. Distelmaier, A. Hahn, E. Morava, S. Banka, R. Debs, J. L. Fraser, P. Isohanni, T. Lähdesmäki, J. Livingston, Y. Nadjar, E. Schuler, J. Uusimaa, A. Vanderver, J. R. Friedman, M. R. Zimbric, R. McFarland, S. Santra, E. Wassmer, L. Martí-Sanchez, A. Darling
Annals of Neurology - 2017 -
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, Anders Oldfors, Gittan Kollberg, Thomas V O Hansen, Kirstine Ravn, Flemming Wibrand, Elsebet Østergaard
JIMD reports - 2016 -
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent
Epilepsy.
Niklas Darin, Emma Reid, Laurence Prunetti, Lena Samuelsson, Ralf A Husain, Matthew Wilson, Basma El Yacoubi, Emma Footitt, W K Chong, Louise C Wilson, Helen Prunty, Simon Pope, Simon Heales, Karine Lascelles, Mike Champion, Evangeline Wassmer, Pierangelo Veggiotti, Valérie de Crécy-Lagard, Philippa B Mills, Peter T Clayton
American journal of human genetics - 2016 -
Ophthalmological characteristics in children with Leigh syndrome - A long-term
follow-up.
Rebecka Åkebrand, Susann Andersson, Antovan Seyedi Honarvar , Kalliopi Sofou, Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
Acta ophthalmologica - 2016 -
Altered Brain Microstate Dynamics in Adolescents with
Narcolepsy
N. M. Drissi, Attila Szakacs, S. T. Witt, A. Wretman, M. Ulander, H. Stahlbrandt, Niklas Darin, Tove Hallböök, A. M. Landtblom, M. Engstrom
Frontiers in Human Neuroscience - 2016 -
A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY)
deficiency.
Carola Oldfors Hedberg, Niklas Darin, Mia Olsson Engman, Zacharias Orfanos, Christer Thomsen, Peter F M van der Ven, Anders Oldfors
European journal of human genetics : EJHG - 2016 -
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh
syndrome.
Juan Darío Ortigoza-Escobar, Marta Molero-Luis, Angela Arias, Alfonso Oyarzabal, Niklas Darin, Mercedes Serrano, Angels Garcia-Cazorla, Mireia Tondo, María Hernández, Judit Garcia-Villoria, Mercedes Casado, Laura Gort, Johannes A Mayr, Pilar Rodríguez-Pombo, Antonia Ribes, Rafael Artuch, Belén Pérez-Dueñas
Brain : a journal of neurology - 2016 -
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71
patients.
Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, Rene de Coo, Hernan Amartino, Marzia Bianchi, Daniela Buhas, Samir Mesli, Karin Naess, Alfred Peter Born, Berit Woldseth, Paolo Prontera, Mustafa Batbayli, Kirstine Ravn, Fróði Joensen, Duccio M Cordelli, Filippo Maria Santorelli, Mar Tulinius, Niklas Darin, Morten Duno, Philippe Jouvencel, Alberto Burlina, Gabriela Stangoni, Enrico Bertini, Isabelle Redonnet-Vernhet, Flemming Wibrand, Carlo Dionisi-Vici, Johanna Uusimaa, Paivi Vieira, Andrés Nascimento Osorio, Robert McFarland, Robert W Taylor, Elisabeth Holme, Elsebet Ostergaard
Journal of inherited metabolic disease - 2016 -
Ophthalmologic involvement in Leigh
syndrome.
Marita Andersson Grönlund, Susann Andersson, Rebecka Åkebrand, Antovan Seyedi Honarvar , Kalliopi Sofou, Niklas Darin, Mar Tulinius
Acta Ophthalmologica - 2016 -
Ophthalmological and genetic findings in children with Leigh syndrome - a long-term
follow-up
Susann Andersson, Rebecka Åkebrand, Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
WSPOS, Barcelona, Spanien, 2015 - 2015 -
Ophthalmological and genetic findings in children with Leigh syndrome - a long-term
follow-up
Susann Andersson, R Åkebrand, Antovan Seyedi Honarvar , Kalliopi Sofou, Niklas Darin, Mar Tulinius
WSPOS (World Society of Paediatric Ophthalmology and Strabismus), Barcelona, Spanien, 3-5 sept 2015. - 2015 -
Ophthalmological findings in children with Leigh syndrome - a long-term
follow-up
Susann Andersson, R Åkebrand, Antovan Seyedi Honarvar , Kalliopi Sofou, Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
NPOG, Åland, Finland, 10-12 juni 2015. Föredrag. - 2015 -
Neuronal Antibodies in Children with or without Narcolepsy following H1N1-AS03
Vaccination
S. Thebault, P. Waters, M. D. Snape, D. Cottrell, Niklas Darin, Tove Hallböök, A. Huutoniemi, M. Partinen, A. J. Pollard, A. Vincent
Plos One - 2015 -
Psychiatric comorbidity and cognitive profile in children with narcolepsy with or without association to the H1N1 influensa
vaccination.
Attila Szakacs, Tove Hallböök, Pontus Tideman, Niklas Darin, Elisabet Wentz
Sleep - 2015 -
Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and
NDUFV1.
Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, Elisabeth Holme, Gittan Kollberg, Jorge Asin-Cayuela, Karin M Holmberg Dahle, Anders Oldfors, Ali-Reza Moslemi, Mar Tulinius
Mitochondrion - 2015 -
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers
syndrome.
Kalliopi Sofou, Gittan Kollberg, Maria Holmström, Marcela Davila Lopez, Niklas Darin, Claes M Gustafsson, Elisabeth Holme, Anders Oldfors, Mar Tulinius, Jorge Asin-Cayuela
Molecular genetics & genomic medicine - 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, Friederike Hörster, Mahmut Coker, Sema Kalkan Ucar, Zita Krumina, Karin Naess, Lock H Ngu, Ewa Pronicka, Gilian Riordan, Rene Santer, Evangeline Wassmer, Johannes Zschocke, Manuel Schiff, Linda De Meirleir, Mohammed A Alowain, Jan A M Smeitink, Eva Morava, Tamas Kozicz, Ron A Wevers, Nicole I Wolf, Michel A Willemsen
Neuropediatrics - 2015 -
Genotype-phenotype correlations in patients with complex I deficiency due to mutations in NDUFS1 and
NDUFV1
Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, Elisabeth Holme, Gittan Kollberg, Jorge Asin-Cayuela, Karin M Holmberg Dahle, Anders Oldfors, Mar Tulinius, Ali-Reza Moslemi
Euromit 2014, 15-19 juni, Tampere, Finland - 2014 -
Epidemiology of lysosomal storage diseases in
Sweden.
Malin Hult, Niklas Darin, Ulrika von Döbeln, Jan-Eric Månsson
Acta paediatrica (Oslo, Norway : 1992) - 2014 -
Electrophysiological, genetic, and ophthalmological findings in
children
Susann Andersson, Åkebrand R, Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
ISCEV, Boston, USA, 20-24 juli 2014. Poster. - 2014 -
B3GALNT2 is a gene associated with congenital muscular dystrophy with brain
malformations.
Carola Hedberg, Anders Oldfors, Niklas Darin
European Journal of Human Genetics - 2014 -
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, Linda De Meirleir, Charalampos Tzoulis, Johanna Uusimaa, Isabell B De Angst, Tuula Lönnqvist, Helena Pihko, Katariina Mankinen, Laurence A Bindoff, Mar Tulinius, Niklas Darin
Orphanet journal of rare diseases - 2014 -
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, Abhijit Dixit, Joel Fluss, Nicola Foulds, Darren Fowler, Tibor Hortobágyi, Thomas Jacques, Mary D King, Periklis Makrythanasis, Adrienn Máté, James Ar Nicoll, Declan O Rourke, Sue Price, Andrew N Williams, Louise Wilson, Mohnish Suri, Laszlo Sztriha, Marit B Dijns-de Wissel, Mia T van Meegen, Fred van Ruissen, Eleonora Aronica, Dirk Troost, Charles Blm Majoie, Henk A Marquering, Bwee Tien Poll-Thé, Frank Baas
Orphanet journal of rare diseases - 2014 -
Cerebrospinal fluid brain injury biomarkers in children: a multicenter
study.
Pashtun Shahim, Niklas Darin, Ulf Andreasson, Kaj Blennow, Elizabeth Jennions, Johan Lundgren, Jan-Eric Månsson, Karin Naess, Carl-Johan Törnhage, Henrik Zetterberg, niklas Mattsson
Pediatric neurology - 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 - 2013 -
Isolated complex I deficiency and atypical clinical courses in three patients due to novel mutations in NDUFS1 and
NDUFV1
Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, Gittan Kollberg, Elisabeth Holme, Mar Tulinius, Anders Oldfors, Ali-Reza Moslemi
European Journal of Paediatric Neurology. 10th EPNS Congress 25-28 September 2013, Brussels, Belgium - 2013 -
Ophthalmological long-term follow-up in children and young adults with Kearns-Sayre
Syndrome
Antovan Seyedi Honarvar , Susann Andersson, Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
Nordic Pediatric Ophthalmology Group - NPOG, Göteborg, 15-17 sept, 2013. Poster. - 2013 -
Ophthalmological long-term follow-up in children and young adults with Kearns-Sayre
Syndrome
Marita Andersson Grönlund, Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, Susann Andersson
ARVO, Seattle, USA, 5-9 maj 2013. Poster. - 2013 -
Development of a mnemonic screening tool for identifying subjects with Hunter
syndrome.
Gabriel M Cohn, Isabelle Morin, David A H Whiteman, Niklas Darin
European journal of pediatrics - 2013 -
The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey
(HOS).
Simon A Jones, Rossella Parini, Paul Harmatz, Roberto Giugliani, Juanzhi Fang, Nancy J Mendelsohn, Niklas Darin
Molecular genetics and metabolism - 2013 -
MRI of the brain in childhood-onset mitochondrial disorders with central nervous system
involvement.
Kalliopi Sofou, Karin Steneryd, Lars-Martin Wiklund, Mar Tulinius, Niklas Darin
Mitochondrion - 2013 -
Increased childhood incidence of narcolepsy in western Sweden after H1N1 influenza
vaccination
A. Szakacs, Niklas Darin, Tove Hallböök
Neurology - 2013 -
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial
encephalomyopathy.
Sara Roos, Niklas Darin, Gittan Kollberg, Marita Andersson Grönlund, Mar Tulinius, Elisabeth Holme, Ali-Reza Moslemi, Anders Oldfors
European journal of human genetics : EJHG - 2013 -
Clinical and electrophysiological findings in children with Leigh
Syndrome
Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
ARVO, Fort Lauderdale, USA, 6-10 maj 2012. Poster. - 2012 -
Phenotypic and genotypic variability in Alpers
syndrome.
Kalliopi Sofou, Ali-Reza Moslemi, Gittan Kollberg, Ingibjörg Bjarnadottir, Anders Oldfors, Inger Nennesmo, Elisabeth Holme, Mar Tulinius, Niklas Darin
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 2012 -
Fortskridande
hjärnsjukdomar
Niklas Darin, Jan-Eric Månsson
Barnmedicin, (red) K.Hanseus, H.Lagercrantz, T. Lindberg. - 2012 -
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic
study.
Anu Suomalainen, Jenni M Elo, Kirsi H Pietiläinen, Anna H Hakonen, Ksenia Sevastianova, Mari Korpela, Pirjo Isohanni, Sanna K Marjavaara, Tiina Tyni, Sari Kiuru-Enari, Helena Pihko, Niklas Darin, Katrin Ounap, Leo Aj Kluijtmans, Anders Paetau, Jana Buzkova, Laurence A Bindoff, Johanna Annunen-Rasila, Johanna Uusimaa, Aila Rissanen, Hannele Yki-Järvinen, Michio Hirano, Mar Tulinius, Jan Smeitink, Henna Tyynismaa
Lancet neurology - 2011 -
Corneal thickness in children and adolescents with mitochondrial
disorders
Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, E. Rudholm, Marita Andersson Grönlund
Nordiska barnögonläkarmöte (NPOG), Selfors, Island, 28-29 sept, 2011. Föredrag. - 2011 -
Increased central corneal thickness in children and adolescents with Kearns-Sayre
syndrome
Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
ARVO, Fort Lauderdale, USA, 1-5 maj 2011. Poster. - 2011 -
Muscular dystrophies and congenital myopathies in
childhood
Brynja Kristin Thorarinsdottir, Mar Tulinius, Niklas Darin
Neuromuscular Disorders - 2011 -
Systemic administration of PRO051 in Duchenne's muscular
dystrophy.
Nathalie M Goemans, Mar Tulinius, Johanna T van den Akker, Brigitte E Burm, Peter F Ekhart, Niki Heuvelmans, Tjadine Holling, Anneke A Janson, Gerard J Platenburg, Jessica A Sipkens, J M Ad Sitsen, Annemieke Aartsma-Rus, Gert-Jan B van Ommen, Gunnar Buyse, Niklas Darin, Jan J Verschuuren, Giles V Campion, Sjef J de Kimpe, Judith C van Deutekom
The New England journal of medicine - 2011 -
Ophthalmological findings in children and young adults with genetically verified mitochondrial
disease
Marita Andersson Grönlund, Antovan Seyedi Honarvar , Susann Andersson, Ali-Reza Moslemi, Anders Oldfors, Elisabeth Holme, Mar Tulinius, Niklas Darin
British Journal of Ophthalmology - 2010 -
Ophthalmological findings in patients with mitochondrial diseases divided into infantile or juvenile
onset
Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
Svenska Läkarsällskapets Riksstämma, Göteborg, Sverige, 1-3 dec 2010. Föredrag. - 2010 -
Ophthalmological findings in patients with mitochondrial diseases divided into infantile or juvenile
onset
Antovan Seyedi Honarvar , Niklas Darin, Mar Tulinius, Marita Andersson Grönlund
EVER, Kreta, Grekland, 3-6 okt 2010. Poster. - 2010 -
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, Per Söderberg, Magnus Påhlman, Niklas Darin, Mårten Kyllerman, Eva Holmberg, Henry Engler, Urban Eriksson, Niklas Dahl
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics - 2009 -
A population-based study of genotypic and phenotypic variability in children with spinal muscular
atrophy.
Eva L Arkblad, Mar Tulinius, Anna-Karin Kroksmark, M Henricsson, Niklas Darin
Acta Paediatrica - 2009 -
Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency
myopathy.
Gittan Kollberg, Mar Tulinius, Atle Melberg, Niklas Darin, Oluf Andersen, Daniel Holmgren, Anders Oldfors, Elisabeth Holme
Brain : a journal of neurology - 2009 -
A novel homozygous RRM2B missense mutation in association with severe mtDNA
depletion.
Gittan Kollberg, Niklas Darin, Karin Benan, Ali-Reza Moslemi, Sigurd Lindal, Mar Tulinius, Anders Oldfors, Elisabeth Holme
Neuromuscular disorders : NMD - 2009 -
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, Marita Andersson Grönlund
Svenska Läkarsällskapets Riksstämma, Göteborg, Sverige, 26-28 nov 2008. Poster - 2008 -
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, Marita Andersson Grönlund
The 7th European Meeting on Mitochondrial Pathology, Stockholm, 11-14 juni 2008. Poster - 2008 -
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, D Avila-Smirnow, M Fardeau, Anders Oldfors, Homa Tajsharghi
Neurology - 2008 -
The in-depth evaluation of suspected mitochondrial
disease
R. H. Haas, S. Parikh, M. J. Falk, R. P. Saneto, N. I. Wolf, Niklas Darin, L. J. Wong, B. H. Cohen, R. K. Naviaux
Molecular Genetics and Metabolism - 2008 -
Juvenile galactosialidosis with attacks of neuropathic pain and absence of
sialyloligosacchariduria
Niklas Darin, Mårten Kyllerman, Anna-Lena Hård, Claes Nordborg, Jan-Eric Månsson
European Journal of Paediatric Neurology - 2008 -
Progressive encephalopathy and complex I deficiency associated with mutations in
MTND1.
Ali-Reza Moslemi, Niklas Darin, Mar Tulinius, L. M. Wiklund, Elisabeth Holme, Anders Oldfors
Neuropediatrics - 2008 -
3-methylcrotonyl-CoA carboxylase deficiency and severe multiple
sclerosis.
Niklas Darin, Oluf Andersen, Lars-Martin Wiklund, Daniel Holmgren, Elisabeth Holme
Pediatric neurology - 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. - 2007 -
Ophthalmologic findings in children and young adults with mitochondrial encephalomyopathies with known DNA
mutation
Marita Andersson Grönlund, Antovan Seyedi Honarvar , E. Rudholm, Niklas Darin, Mar Tulinius, Susann Andersson
ARVO, Fort Lauderdale, USA, 6-10 maj 2007. Poster. - 2007 -
Ophthalmologic findings in 40 patients with mitochondrial diseases with known DNA
mutation
Marita Andersson Grönlund, Antovan Seyedi Honarvar , E. Rudholm, Niklas Darin, Mar Tulinius, Susann Andersson
American Association of Pediatric Ophthalmology and Strabismus (AAPOS), Seattle, Washington, USA, 11-15 april 2007. Poster. - 2007 -
Inflammation and response to steroid treatment in limb-girdle muscular dystrophy
2I
Niklas Darin, Anna-Karin Kroksmark, Anne-Christine Åhlander, Ali-Reza Moslemi, Anders Oldfors, Mar Tulinius
Eur J Paediatr Neurol - 2007 -
New skeletal myopathy and cardiomyopathy associated with a missense mutation in
MYH7
Niklas Darin, Homa Tajsharghi, Ingegerd Östman-Smith, Thomas Gilljam, Anders Oldfors
Neurology - 2007 -
Mitochondrial disease: a practical approach for primary care
physicians.
Richard H Haas, Sumit Parikh, Marni J Falk, Russell P Saneto, Nicole I Wolf, Niklas Darin, Bruce H Cohen
Pediatrics - 2007 -
Molecular genetic and clinical aspects of mitochondrial disorders in
childhood
Ali-Reza Moslemi, Niklas Darin
MITOCHONDRION - 2007 -
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, Niklas Darin
The European Pediatric Ophthalmology Society (EPOS), Viamora, Portugal, 6-7 okt 2006. Poster. - 2006 -
Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe)
gene
Niklas Darin, Gittan Kollberg, Ali-Reza Moslemi, Mar Tulinius, Elisabeth Holme, Marita Andersson Grönlund, S Andersson, Anders Oldfors
Neuromuscular disorders : NMD - 2006 -
POLG1 mutations associated with progressive encephalopathy in
childhood.
Gittan Kollberg, Ali-Reza Moslemi, Niklas Darin, Inger Nennesmo, Ingibjörg Bjarnadottir, Paul Uvebrant, Elisabeth Holme, Atle Melberg, Mar Tulinius, Anders Oldfors
Journal of neuropathology and experimental neurology - 2006 -
Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular
atrophy
Eva L Arkblad, Niklas Darin, Kerstin Berg, Eva Kimber, Göran Brandberg, Christopher Lindberg, Eva Holmberg, Mar Tulinius, Margareta Nordling
Neuromuscular disorders : NMD - 2006 -
Utredning av barn med miokondriell sjukdom med inriktning på ögon- och
synfunktion
S. Andersson, Mar Tulinius, Niklas Darin, Marita Andersson Grönlund
Nordisk Barnoftalmologisk Kongress, Åbo, Finland, 2-4 sept 2005. Föredrag. - 2005 -
Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA
depletion.
Mar Tulinius, Ali-Reza Moslemi, Niklas Darin, Elisabeth Holme, Anders Oldfors
Neuromuscular disorders : NMD - 2005 -
A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha
gene.
Mar Tulinius, Niklas Darin, Lars-Martin Wiklund, Eva Holmberg, Jan Erik Eriksson, Willy Lissens, Linda De Meirleir, Elisabeth Holme
European journal of pediatrics - 2005 -
Two new mutations in the MTATP6 gene associated with Leigh
syndrome.
Ali-Reza Moslemi, Niklas Darin, Mar Tulinius, Anders Oldfors, Elisabeth Holme
Neuropediatrics - 2005 -
Early onset myopathy with a novel mutation in the Selenoprotein N gene
(SEPN1)
Homa Tajsharghi, Niklas Darin, Mar Tulinius, Anders Oldfors
Neuromuscul Disord - 2005 -
Mutations and sequence variation in the human myosin heavy chain IIa gene
(MYH2)
Homa Tajsharghi, Niklas Darin, Elham Rekabdar, Mårten Kyllerman, Jan Wahlström, Tommy Martinsson, Anders Oldfors
Eur J Hum Genet - 2005 -
The effects of endurance training in persons with a hereditary myosin
myopathy
Katharina Stibrant Sunnerhagen, Niklas Darin, Homa Tajsharghi, Anders Oldfors
Acta Neurol Scand - 2004 -
Induced shift in myosin heavy chain expression in myosin myopathy by endurance
training
Homa Tajsharghi, Katharina Stibrant Sunnerhagen, Niklas Darin, Mårten Kyllerman, Anders Oldfors
J Neurol - 2004 -
Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene
(ACTA1)
Monica Ohlsson, Homa Tajsharghi, Niklas Darin, Mårten Kyllerman, Anders Oldfors
Neuromuscul Disord - 2004 -
Myopathies associated with myosin heavy chain
mutations
Anders Oldfors, Homa Tajsharghi, Niklas Darin, Christopher Lindberg
Acta Myol - 2004 -
Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with
age.
Homa Tajsharghi, Lars-Eric Thornell, Niklas Darin, Tommy Martinsson, Mårten Kyllerman, Jan Wahlström, Anders Oldfors
Neurology - 2002 -
Neuromuscular disorders in childhood. Epidemiology and characterization of a new
myopathy
Niklas Darin
2000 -
Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa
gene.
Tommy Martinsson, Anders Oldfors, Niklas Darin, Kerstin Berg, Homa Tajsharghi, Mårten Kyllerman, J. Wahlstrom
Proceedings of the National Academy of Sciences of the United States of America - 2000 -
Changes in prevalence, aetiology, age at detection, and associated disabilities in preschool children with hearing impairment born in
Göteborg.
Niklas Darin, P Hanner, K Thiringer
Developmental medicine and child neurology - 1997 -
Clinical, serological and PCR evidence of cytomegalovirus infection in the central nervous system in infancy and
childhood.
Niklas Darin, T Bergström, A Fast, M Kyllerman
Neuropediatrics - 1994 -
Cortisol secretion in relation to body fat distribution in obese premenopausal
women.
Per Mårin, Niklas Darin, T Amemiya, B Andersson, S Jern, P Björntorp
Metabolism: clinical and experimental - 1992