Resultados de procura - Darin, Niklas

B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations por Hedberg, Carola, Oldfors, Anders, Darin, Niklas

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The development of a health-related quality-of-life instrument for young people with narcolepsy: NARQoL-21 por Chaplin, John E., Szakács, Attila, Hallböök, Tove, Darin, Niklas

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Psychiatric Comorbidity and Cognitive Profile in Children with Narcolepsy with or without Association to the H1N1 Influenza Vaccination por Szakács, Attila, Hallböök, Tove, Tideman, Pontus, Darin, Niklas, Wentz, Elisabet

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COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation por Hedberg-Oldfors, Carola, Darin, Niklas, Thomsen, Christer, Lindberg, Christopher, Oldfors, Anders

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Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes por Sofou, Kalliopi, Dahlin, Maria, Hallböök, Tove, Lindefeldt, Marie, Viggedal, Gerd, Darin, Niklas

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γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1 por Darin, Niklas, Leckström, Karin, Sikora, Per, Lindgren, Julia, Almén, Gabriella, Asin-Cayuela, Jorge

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Autosomal dominant myopathy: Missense mutation (Glu-706 → Lys) in the myosin heavy chain IIa gene por Martinsson, Tommy, Oldfors, Anders, Darin, Niklas, Berg, Kerstin, Tajsharghi, Homa, Kyllerman, Mårten, Wahlström, Jan

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Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis por Darin, Niklas, Kadhom, Norman, Brière, Jean-Jacques, Chretien, Dominique, Bébéar, Cécile M, Rötig, Agnès, Munnich, Arnold, Rustin, Pierre

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A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy por Roos, Sara, Darin, Niklas, Kollberg, Gittan, Andersson Grönlund, Marita, Tulinius, Mar, Holme, Elisabeth, Moslemi, Ali-Reza, Oldfors, Anders

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Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant por Roos, Sara, Hedberg‐Oldfors, Carola, Visuttijai, Kittichate, Stein, My, Kollberg, Gittan, Elíasdóttir, Ólöf, Lindberg, Christopher, Darin, Niklas, Oldfors, Anders

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A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency por Hedberg-Oldfors, Carola, Darin, Niklas, Olsson Engman, Mia, Orfanos, Zacharias, Thomsen, Christer, van der Ven, Peter F M, Oldfors, Anders

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Structural anomaly in the reticular formation in narcolepsy type 1, suggesting lower levels of neuromelanin por Drissi, Natasha Morales, Warntjes, Marcel, Wessén, Alexander, Szakacs, Attila, Darin, Niklas, Hallböök, Tove, Landtblom, Anne-Marie, Gauffin, Helena, Engström, Maria

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Unexpected Fat Distribution in Adolescents With Narcolepsy por Morales Drissi, Natasha, Romu, Thobias, Landtblom, Anne-Marie, Szakács, Attilla, Hallböök, Tove, Darin, Niklas, Borga, Magnus, Leinhard, Olof Dahlqvist, Engström, Maria

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Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome por Sofou, Kalliopi, Kollberg, Gittan, Holmström, Maria, Dávila, Marcela, Darin, Niklas, Gustafsson, Claes M, Holme, Elisabeth, Oldfors, Anders, Tulinius, Már, Asin-Cayuela, Jorge

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Neuronal Antibodies in Children with or without Narcolepsy following H1N1-AS03 Vaccination por Thebault, Simon, Waters, Patrick, Snape, Matthew D., Cottrell, Dominic, Darin, Niklas, Hallböök, Tove, Huutoniemi, Anne, Partinen, Markku, Pollard, Andrew J., Vincent, Angela

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Altered Brain Microstate Dynamics in Adolescents with Narcolepsy por Drissi, Natasha M., Szakács, Attila, Witt, Suzanne T., Wretman, Anna, Ulander, Martin, Ståhlbrandt, Henriettae, Darin, Niklas, Hallböök, Tove, Landtblom, Anne-Marie, Engström, Maria

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Corrigendum: Altered Brain Microstate Dynamics in Adolescents With Narcolepsy por Drissi, Natasha M., Szakács, Attila, Witt, Suzanne T., Wretman, Anna, Ulander, Martin, Ståhlbrandt, Henriettae, Darin, Niklas, Hallböök, Tove, Landtblom, Anne-Marie, Engström, Maria

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Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene por Jensen, Kristian Vestergaard, Frid, Maria, Stödberg, Tommy, Barbaro, Michela, Wedell, Anna, Christensen, Mette, Bak, Mads, Ek, Jakob, Madsen, Camilla Gøbel, Darin, Niklas, Grønborg, Sabine

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The In-Depth Evaluation of Suspected Mitochondrial Disease: The Mitochondrial Medicine Society's Committee on Diagnosis por Haas, Richard H., Parikh, Sumit, Falk, Marni J., Saneto, Russell P., Wolf, Nicole I., Darin, Niklas, Wong, Lee-Jun, Cohen, Bruce H., Naviaux, Robert K.

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Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling por Grønborg, Sabine, Darin, Niklas, Miranda, Maria J., Damgaard, Bodil, Cayuela, Jorge Asin, Oldfors, Anders, Kollberg, Gittan, Hansen, Thomas V. O., Ravn, Kirstine, Wibrand, Flemming, Østergaard, Elsebet

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