The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965–2014

per Ohlsson, Annika, Bruhn, Helene, Nordenström, Anna, Zetterström, Rolf H., Wedell, Anna, von Döbeln, Ulrika
Publicat a JIMD Rep (2016)

Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome

per Naess, Karin, Barbaro, Michela, Bruhn, Helene, Wibom, Rolf, Nennesmo, Inger, von Döbeln, Ulrika, Larsson, Nils-Göran, Nemeth, Antal, Lesko, Nicole
Publicat 2011

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)

per Engvall, Martin, Kawasaki, Aki, Carelli, Valerio, Wibom, Rolf, Bruhn, Helene, Lesko, Nicole, Schober, Florian A., Wredenberg, Anna, Wedell, Anna, Träisk, Frank
Publicat a Front Neurol (2021)

Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy

per Bruhn, Helene, Samuelsson, Kristin, Schober, Florian A., Engvall, Martin, Lesko, Nicole, Wibom, Rolf, Nennesmo, Inger, Calvo-Garrido, Javier, Press, Rayomand, Stranneheim, Henrik, Freyer, Christoph, Wedell, Anna, Wredenberg, Anna
Publicat a Neurol Genet (2021)

SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation

per Calvo-Garrido, Javier, Maffezzini, Camilla, Schober, Florian A., Clemente, Paula, Uhlin, Elias, Kele, Malin, Stranneheim, Henrik, Lesko, Nicole, Bruhn, Helene, Svenningsson, Per, Falk, Anna, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna
Publicat a Stem Cell Reports (2019)

Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

per Tuppen, Helen AL, Naess, Karin, Kennaway, Nancy G, Al-Dosary, Mazhor, Lesko, Nicole, Yarham, John W, Bruhn, Helene, Wibom, Rolf, Nennesmo, Inger, Weleber, Richard G, Blakely, Emma L, Taylor, Robert W, McFarland, Robert
Publicat 2012

Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

per Tuppen, Helen AL, Naess, Karin, Kennaway, Nancy G, Al-Dosary, Mazhor, Lesko, Nicole, Yarham, John W, Bruhn, Helene, Wibom, Rolf, Nennesmo, Inger, Weleber, Richard G, Blakely, Emma L, Taylor, Robert W, McFarland, Robert
Publicat 2012

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma

per Siibak, Triinu, Clemente, Paula, Bratic, Ana, Bruhn, Helene, Kauppila, Timo E.S., Macao, Bertil, Rosenberger, Florian A., Lesko, Nicole, Wibom, Rolf, Naess, Karin, Nennesmo, Inger, Wedell, Anna, Peter, Bradley, Freyer, Christoph, Falkenberg, Maria, Wredenberg, Anna
Publicat a Hum Mol Genet (2017)

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

per Stranneheim, Henrik, Engvall, Martin, Naess, Karin, Lesko, Nicole, Larsson, Pontus, Dahlberg, Mats, Andeer, Robin, Wredenberg, Anna, Freyer, Chris, Barbaro, Michela, Bruhn, Helene, Emahazion, Tesfail, Magnusson, Måns, Wibom, Rolf, Zetterström, Rolf H, Wirta, Valtteri, von Döbeln, Ulrika, Wedell, Anna
Publicat a BMC Genomics (2014)

Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy

per Gineste, Charlotte, Hernandez, Andres, Ivarsson, Niklas, Cheng, Arthur J., Naess, Karin, Wibom, Rolf, Lesko, Nicole, Bruhn, Helene, Wedell, Anna, Freyer, Christoph, Zhang, Shi-Jin, Carlström, Mattias, Lanner, Johanna T., Andersson, Daniel C., Bruton, Joseph D., Wredenberg, Anna, Westerblad, Håkan
Publicat a Hum Mol Genet (2015)

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid

per Freyer, Christoph, Stranneheim, Henrik, Naess, Karin, Mourier, Arnaud, Felser, Andrea, Maffezzini, Camilla, Lesko, Nicole, Bruhn, Helene, Engvall, Martin, Wibom, Rolf, Barbaro, Michela, Hinze, Yvonne, Magnusson, Måns, Andeer, Robin, Zetterström, Rolf H, von Döbeln, Ulrika, Wredenberg, Anna, Wedell, Anna
Publicat a J Med Genet (2015)

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

per Tegelberg, Saara, Tomašić, Nikica, Kallijärvi, Jukka, Purhonen, Janne, Elmér, Eskil, Lindberg, Eva, Nord, David Gisselsson, Soller, Maria, Lesko, Nicole, Wedell, Anna, Bruhn, Helene, Freyer, Christoph, Stranneheim, Henrik, Wibom, Rolf, Nennesmo, Inger, Wredenberg, Anna, Eklund, Erik A., Fellman, Vineta
Publicat a Orphanet J Rare Dis (2017)

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

per Rendtorff, Nanna D., Lodahl, Marianne, Boulahbel, Houda, Johansen, Ida R., Pandya, Arti, Welch, Katherine O., Norris, Virginia W., Arnos, Kathleen S., Bitner-Glindzicz, Maria, Emery, Sarah B., Mets, Marilyn B., Fagerheim, Toril, Eriksson, Kristina, Hansen, Lars, Bruhn, Helene, Möller, Claes, Lindholm, Sture, Ensgård, Stefan, Lesperance, Marci M., Tranebjærg, Lisbeth
Publicat 2011

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

per Kishita, Yoshihito, Pajak, Aleksandra, Bolar, Nikhita Ajit, Marobbio, Carlo M.T., Maffezzini, Camilla, Miniero, Daniela V., Monné, Magnus, Kohda, Masakazu, Stranneheim, Henrik, Murayama, Kei, Naess, Karin, Lesko, Nicole, Bruhn, Helene, Mourier, Arnaud, Wibom, Rolf, Nennesmo, Inger, Jespers, Ann, Govaert, Paul, Ohtake, Akira, Van Laer, Lut, Loeys, Bart L., Freyer, Christoph, Palmieri, Ferdinando, Wredenberg, Anna, Okazaki, Yasushi, Wedell, Anna
Publicat a Am J Hum Genet (2015)

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

per Stranneheim, Henrik, Lagerstedt-Robinson, Kristina, Magnusson, Måns, Kvarnung, Malin, Nilsson, Daniel, Lesko, Nicole, Engvall, Martin, Anderlid, Britt-Marie, Arnell, Henrik, Johansson, Carolina Backman, Barbaro, Michela, Björck, Erik, Bruhn, Helene, Eisfeldt, Jesper, Freyer, Christoph, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjö, Anna, Hellström-Pigg, Maritta, Iwarsson, Erik, Jemt, Anders, Laaksonen, Mikael, Enoksson, Sara Lind, Malmgren, Helena, Naess, Karin, Nordenskjöld, Magnus, Oscarson, Mikael, Pettersson, Maria, Rasi, Chiara, Rosenbaum, Adam, Sahlin, Ellika, Sardh, Eliane, Stödberg, Tommy, Tesi, Bianca, Tham, Emma, Thonberg, Håkan, Töhönen, Virpi, von Döbeln, Ulrika, Vassiliou, Daphne, Vonlanthen, Sofie, Wikström, Ann-Charlotte, Wincent, Josephine, Winqvist, Ola, Wredenberg, Anna, Ygberg, Sofia, Zetterström, Rolf H., Marits, Per, Soller, Maria Johansson, Nordgren, Ann, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna
Publicat a Genome Med (2021)