A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype von Jennions, E., Olsson‐Engman, M., Visuttijai, K., Wiksell, Å., Fluriach Dominguez, N., Kollberg, G., Oldfors, A., Hedberg‐Oldfors, C.

Volltext

Distinctive cerebral neuropathology in an adult case of sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) syndrome von Kirschenbaum, D., Hedberg‐Oldfors, C., Oldfors, A., Scherer, E., Budka, H.

Volltext

Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1 von Darin, N., Hedberg‐Oldfors, C., Kroksmark, A.‐K., Moslemi, A.‐R., Kollberg, G., Oldfors, A.

Volltext

A novel mutation in EPG5 cause Vici syndrome with vacuolar myopathy von Hedberg-Oldfors, C, Darin, N, Oldfors, A

Volltext

Novel myopathy in a newborn with severe thoracic dysplasia caused by mutations in the SBDS gene: Further delineation of the phenotypic spectrum of Shwachman–Diamond syndrome von Hedberg Oldfors, C, Topa, A, Tulinius, M, Oldfors, A

Volltext

Mitochondrial pathology in inclusion body myositis von Lindgren, U, Roos, S, Hedberg Oldfors, C, Moslemi, A, Lindberg, C, Oldfors, A

Volltext

Hypertrophic cardiomyopathy and abnormal glycogen storage in heart and skeletal muscle associated with inactivation of KLHL24 von Hedberg-Oldfors, C, Danielsson, O, Hübbert, L, Nennesmo, I, Abramsson, A, Banote, R, Edling, M, Zetterberg, H, Oldfors, A

Volltext

A novel neuromuscular form of glycogen storage disease type IV characterized by spinal stiffness, arthrogrypotic features, and rare polyglucosan bodies in muscle biopsy von Malfatti, E, Barnerias, C, Hedberg-Oldfors, C, Gitiaux, C, Allamand, V, Carlier, R, Oldfors, A, Quijano-Roy, S, Romero, N

Volltext

Accurate mapping of mitochondrial DNA deletions and duplications using deep sequencing von Basu, Swaraj, Xie, Xie, Uhler, Jay P., Hedberg-Oldfors, Carola, Milenkovic, Dusanka, Baris, Olivier R., Kimoloi, Sammy, Matic, Stanka, Stewart, James B., Larsson, Nils-Goran, Wiesner, Rudolf J., Oldfors, Anders, Gustafsson, Claes M., Falkenberg, Maria, Larsson, Erik

Volltext

Novel GYG1 mutation causing late-onset polyglucosan body myopathy with nemaline rods von Tasca, G, Fattori, F, Monforte, M, Hedberg-Oldfors, C, Sabatelli, M, Udd, B, Boldrini, R, Bertini, E, Ricci, E, Oldfors, A

Volltext

Four Swedish cases of CSF1R-related leukoencephalopathy : Visualization of clinical phenotypes von Rosenstein, Igal, Andersen, Oluf, Victor, Daniel, Englund, Elisabet, Granberg, Tobias, Hedberg-Oldfors, Carola, Jood, Katarina, Fitrah, Yusran Ady, Ikeuchi, Takeshi, Danylaité Karrenbauer, Virginija

Volltext

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 von 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

Volltext

The Swedish COG6‐CDG experience and a comprehensive literature review von 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.

Volltext

AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE: P.12 Mutations in the supervillin gene cause myopathy with myofibrillar disorganization and aut... von Hedberg-Oldfors, C., Study Group, Supervillin

Volltext

AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE von Hedberg-Oldfors, C., Study Group, Supervillin

Volltext

518P Proteomic characterization of polyglucosan bodies in skeletal muscle in glycogenin-1 deficiency von Visuttijai, K., Hedberg-Oldfors, C., Costello, D., Bermingham, N., Oldfors, A.

Volltext

26P Is oral salbutamol a possible treatment for congenital myopathies? von Michael, E., Hedberg-Oldfors, C., Gudmundsson, M., Weichbrodt, J., Oldfors, A., Darin, N.

Volltext

P322 Inclusion body myositis with early onset – a population-based study von Lindgren, U., Hedberg-Oldfors, C., Pullerits, R., Lindberg, C., Oldfors, A.

Volltext

P413 Dominantly inherited myosin IIa myopathy without ophthalmoplegia caused by aberrant splicing of MYH2 von Hedberg-Oldfors, C., Elíasdóttir, Ó, Geijer, M., Lindberg, C., Oldfors, A.

Volltext

P344 Immunohistochemical characterization of polyglucosan in heart and muscle in glycogenin-1 deficiency von Visuttijai, K., Hedberg-Oldfors, C., Bermingham, N., Costello, D., Englund, E., Braun, O., Oldfors, A.

Volltext