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

por Hedberg-Oldfors, Carola, Lindberg, Christopher, Oldfors, Anders
Publicado 2018

Inclusion body myositis with early onset: a population-based study

por Lindgren, Ulrika, Hedberg-Oldfors, Carola, Pullerits, Rille, Lindberg, Christopher, Oldfors, Anders
Publicado 2023

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 2020

Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2

por Hedberg-Oldfors, Carola, Elíasdóttir, Ólöf, Geijer, Mats, Lindberg, Christopher, Oldfors, Anders
Publicado 2022

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 2020

Respiratory chain dysfunction in perifascicular muscle fibres in patients with dermatomyositis is associated with mitochondrial DNA depletion

por Hedberg‐Oldfors, Carola, Lindgren, Ulrika, Visuttijai, Kittichate, Lööf, Daniel, Roos, Sara, Thomsen, Christer, Oldfors, Anders
Publicado 2022

Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia

por Hedberg-Oldfors, Carola, Mitra, Sanhita, Molinaro, Angela, Visuttijai, Kittichate, Fogelstrand, Linda, Oldfors, Anders, Sterky, Fredrik H., Darin, Niklas
Publicado 2023

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 2015

Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing

por Hedberg‐Oldfors, Carola, Lindgren, Ulrika, Basu, Swaraj, Visuttijai, Kittichate, Lindberg, Christopher, Falkenberg, Maria, Larsson Lekholm, Erik, Oldfors, Anders
Publicado 2021

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
Publicado 2021

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 2020

Four Swedish cases of CSF1R‐related leukoencephalopathy: Visualization of clinical phenotypes

por Rosenstein, Igal, Andersen, Oluf, Victor, Daniel, Englund, Elisabet, Granberg, Tobias, Hedberg‐Oldfors, Carola, Jood, Katarina, Fitrah, Yusran Ady, Ikeuchi, Takeshi, Danylaité Karrenbauer, Virginija
Publicado 2022

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 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 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 2016

The Swedish COG6‐CDG experience and a comprehensive literature review

por Xia, Zhi‐Jie, Ng, Bobby G., Jennions, Elizabeth, Blomqvist, Maria, Sandqvist Wiklund, Anneli, Hedberg‐Oldfors, Carola, Gonzalez, Carlos Rodriguez, Freeze, Hudson H., Ygberg, Sofia, Eklund, Erik A.
Publicado 2022

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 2020

Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy

por Schwantje, Marit, Ebberink, Merel S., Doolaard, Mirjam, Ruiter, Jos P. N., Fuchs, Sabine A., Darin, Niklas, Hedberg‐Oldfors, Carola, Régal, Luc, Donker Kaat, Laura, Huidekoper, Hidde H., Olpin, Simon, Cole, Duncan, Moat, Stuart J., Visser, Gepke, Ferdinandusse, Sacha
Publicado 2022

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 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 2020