Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy

Por Hedberg-Oldfors, Carola, Lindberg, Christopher, Oldfors, Anders
Publicado no Neurol Genet (2018)

COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation

Por Hedberg-Oldfors, Carola, Darin, Niklas, Thomsen, Christer, Lindberg, Christopher, Oldfors, Anders
Publicado no Neurol Genet (2020)

Progressive external ophthalmoplegia associated with novel MT‐TN mutations

Por Visuttijai, Kittichate, Hedberg‐Oldfors, Carola, Lindgren, Ulrika, Nordström, Sara, Elíasdóttir, Ólöf, Lindberg, Christopher, Oldfors, Anders
Publicado no Acta Neurol Scand (2020)

Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile

Por Roos, Sara, Sofou, Kalliopi, Hedberg-Oldfors, Carola, Kollberg, Gittan, Lindgren, Ulrika, Thomsen, Christer, Tulinius, Mar, Oldfors, Anders
Publicado no Eur J Hum Genet (2018)

Analysis of an independent tumor suppressor locus telomeric to Tp53 suggested Inpp5k and Myo1c as novel tumor suppressor gene candidates in this region

Por Hedberg Oldfors, Carola, Dios, Diego Garcia, Linder, Anna, Visuttijai, Kittichate, Samuelson, Emma, Karlsson, Sandra, Nilsson, Staffan, Behboudi, Afrouz
Publicado no BMC Genet (2015)

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
Publicado no Eur J Hum Genet (2016)

Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO

Por Hedberg-Oldfors, Carola, Macao, Bertil, Basu, Swaraj, Lindberg, Christopher, Peter, Bradley, Erdinc, Direnis, Uhler, Jay P., Larsson, Erik, Falkenberg, Maria, Oldfors, Anders
Publicado no Neurol Genet (2020)

Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage

Por Visuttijai, Kittichate, Hedberg-Oldfors, Carola, Thomsen, Christer, Glamuzina, Emma, Kornblum, Cornelia, Tasca, Giorgio, Hernandez-Lain, Aurelio, Sandstedt, Joakim, Dellgren, Göran, Roach, Peter, Oldfors, Anders
Publicado no J Clin Endocrinol Metab (2019)

An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids

Por Sundal, Christina, Carmona, Susana, Yhr, Maria, Almström, Odd, Ljungberg, Maria, Hardy, John, Hedberg-Oldfors, Carola, Fred, Åsa, Brás, José, Oldfors, Anders, Andersen, Oluf, Guerreiro, Rita
Publicado no Acta Neuropathol Commun (2019)

Cardiomyopathy as presenting sign of glycogenin-1 deficiency—report of three cases and review of the literature

Por Hedberg-Oldfors, Carola, Glamuzina, Emma, Ruygrok, Peter, Anderson, Lisa J., Elliott, Perry, Watkinson, Oliver, Occleshaw, Chris, Abernathy, Malcolm, Turner, Clinton, Kingston, Nicola, Murphy, Elaine, Oldfors, Anders
Publicado no J Inherit Metab Dis (2016)

A New Muscle Glycogen Storage Disease Associated with Glycogenin-1 Deficiency

Por Malfatti, Edoardo, Nilsson, Johanna, Hedberg-Oldfors, Carola, Hernandez-Lain, Aurelio, Michel, Fabrice, Dominguez-Gonzalez, Cristina, Viennet, Gabriel, Akman, H. Orhan, Kornblum, Cornelia, den Bergh, Peter Van, Romero, Norma B., Engel, Andrew G., DiMauro, Salvatore, Oldfors, Anders
Publicado no Ann Neurol (2014)

Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing

Por Basu, Swaraj, Xie, Xie, Uhler, Jay P., Hedberg-Oldfors, Carola, Milenkovic, Dusanka, Baris, Olivier R., Kimoloi, Sammy, Matic, Stanka, Stewart, James B., Larsson, Nils-Göran, Wiesner, Rudolf J., Oldfors, Anders, Gustafsson, Claes M., Falkenberg, Maria, Larsson, Erik
Publicado no PLoS Genet (2020)

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24

Por Hedberg-Oldfors, Carola, Abramsson, Alexandra, Osborn, Daniel P S, Danielsson, Olof, Fazlinezhad, Afsoon, Nilipour, Yalda, Hübbert, Laila, Nennesmo, Inger, Visuttijai, Kittichate, Bharj, Jaipreet, Petropoulou, Evmorfia, Shoreim, Azza, Vona, Barbara, Ahangari, Najmeh, López, Marcela Dávila, Doosti, Mohammad, Banote, Rakesh Kumar, Maroofian, Reza, Edling, Malin, Taherpour, Mehdi, Zetterberg, Henrik, Karimiani, Ehsan Ghayoor, Oldfors, Anders, Jamshidi, Yalda
Publicado no Hum Mol Genet (2019)

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles

Por Hedberg-Oldfors, Carola, Meyer, Robert, Nolte, Kay, Abdul Rahim, Yassir, Lindberg, Christopher, Karason, Kristjan, Thuestad, Inger Johanne, Visuttijai, Kittichate, Geijer, Mats, Begemann, Matthias, Kraft, Florian, Lausberg, Eva, Hitpass, Lea, Götzl, Rebekka, Luna, Elizabeth J, Lochmüller, Hanns, Koschmieder, Steffen, Gramlich, Michael, Gess, Burkhard, Elbracht, Miriam, Weis, Joachim, Kurth, Ingo, Oldfors, Anders, Knopp, Cordula
Publicado no Brain (2020)

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

Por Laforêt, Pascal, Inoue, Michio, Goillot, Evelyne, Lefeuvre, Claire, Cagin, Umut, Streichenberger, Nathalie, Leonard-Louis, Sarah, Brochier, Guy, Madelaine, Angeline, Labasse, Clemence, Hedberg-Oldfors, Carola, Krag, Thomas, Jauze, Louisa, Fabregue, Julien, Labrune, Philippe, Milisenda, Jose, Nadaj-Pakleza, Aleksandra, Sacconi, Sabrina, Mingozzi, Federico, Ronzitti, Giuseppe, Petit, François, Schoser, Benedikt, Oldfors, Anders, Vissing, John, Romero, Norma B., Nishino, Ichizo, Malfatti, Edoardo
Publicado no Acta Neuropathol Commun (2019)

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

Por Donkervoort, Sandra, Kutzner, Carl E., Hu, Ying, Lornage, Xavière, Rendu, John, Stojkovic, Tanya, Baets, Jonathan, Neuhaus, Sarah B., Tanboon, Jantima, Maroofian, Reza, Bolduc, Véronique, Mroczek, Magdalena, Conijn, Stefan, Kuntz, Nancy L., Töpf, Ana, Monges, Soledad, Lubieniecki, Fabiana, McCarty, Riley M., Chao, Katherine R., Governali, Serena, Böhm, Johann, Boonyapisit, Kanokwan, Malfatti, Edoardo, Sangruchi, Tumtip, Horkayne-Szakaly, Iren, Hedberg-Oldfors, Carola, Efthymiou, Stephanie, Noguchi, Satoru, Djeddi, Sarah, Iida, Aritoshi, di Rosa, Gabriella, Fiorillo, Chiara, Salpietro, Vincenzo, Darin, Niklas, Fauré, Julien, Houlden, Henry, Oldfors, Anders, Nishino, Ichizo, de Ridder, Willem, Straub, Volker, Pokrzywa, Wojciech, Laporte, Jocelyn, Foley, A. Reghan, Romero, Norma B., Ottenheijm, Coen, Hoppe, Thorsten, Bönnemann, Carsten G.
Publicado no Am J Hum Genet (2020)