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1

Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation

Carola Hedberg, Christopher Lindberg, Gyöngyvér Máthé, Ali-Reza Moslemi, Anders Oldfors

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 1.18 MB

english, 2012

2

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

Hedberg, Carola, Melberg, Atle, Kuhl, Angelika, Jenne, Dieter, Oldfors, Anders

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 124 KB

english, 2012

3

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

Hedberg, Carola, Niceta, Marcello, Fattori, Fabiana, Lindvall, Björn, Ciolfi, Andrea, D’Amico, Adele, Tasca, Giorgio, Petrini, Stefania, Tulinius, Mar, Tartaglia, Marco, Oldfors, Anders, Bertini, Enri

Journal:

Journal of Neurology

Year:

2014

Language:

english

File:

PDF, 1.88 MB

english, 2014

4

B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations

Hedberg, Carola, Oldfors, Anders, Darin, Niklas

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 907 KB

english, 2014

5

Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain

Hedberg, Carola, Toledo, Alejandro Gomez, Gustafsson, Claes M., Larson, Göran, Oldfors, Anders, Macao, Bertil

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 861 KB

english, 2014

6

A new muscle glycogen storage disease associated with glycogenin-1 deficiency

Malfatti, Edoardo, Nilsson, Johanna, Hedberg-Oldfors, Carola, Hernandez-Lain, Aurelio, Michel, Fabrice, Dominguez-Gonzalez, Cristina, Viennet, Gabriel, Akman, H. Orhan, Kornblum, Cornelia, Van den Ber

Journal:

Annals of Neurology

Year:

2014

Language:

english

File:

PDF, 1.14 MB

english, 2014

7

A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres

Casar-Borota, Olivera, Jacobsson, Johan, Libelius, Rolf, Oldfors, Carola Hedberg, Malfatti, Edoardo, Romero, Norma Beatriz, Oldfors, Anders

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.79 MB

english, 2015

8

Mitochondrial pathology in inclusion body myositis

Lindgren, Ulrika, Roos, Sara, Hedberg Oldfors, Carola, Moslemi, Ali-Reza, Lindberg, Christopher, Oldfors, Anders

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.86 MB

english, 2015

9

Early onset cardiomyopathy in females with Danon disease

Hedberg Oldfors, Carola, Máthé, Gyöngyvér, Thomson, Kate, Tulinius, Mar, Karason, Kristjan, Östman-Smith, Ingegerd, Oldfors, Anders

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 6.19 MB

english, 2015

10

Reply to Brodehl et al

Hedberg, Carola, Melberg, Atle, Kuhl, Angelika, Jenne, Dieter, Oldfors, Anders

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 75 KB

english, 2013

11

Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation

Luo, Sushan, Zhu, Wenhua, Yue, Dongyue, Lin, Jie, Wang, Yin, Zhu, Zhen, Qiu, Wenjuan, Lu, Jiahong, Hedberg-Oldfors, Carola, Oldfors, Anders, Zhao, Chongbo

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 2.73 MB

english, 2015

12

Polyglucosan storage myopathies

Hedberg-Oldfors, Carola, Oldfors, Anders

Journal:

Molecular Aspects of Medicine

Year:

2015

Language:

english

File:

PDF, 9.12 MB

english, 2015

13

A novelMYH2mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness

Willis, Tracey, Hedberg-Oldfors, Carola, Alhaswani, Zoya, Kulshrestha, Richa, Sewry, Caroline, Oldfors, Anders

Journal:

Journal of Neurology

Year:

2016

Language:

english

File:

PDF, 1.68 MB

english, 2016

14

Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation

Topa, Alexandra, Tulinius, Mar, Oldfors, Anders, Hedberg-Oldfors, Carola

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 2.29 MB

english, 2016

15

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle

Malfatti, Edoardo, Barnerias, Christine, Hedberg-Oldfors, Carola, Gitiaux, Cyril, Benezit, Audrey, Oldfors, Anders, Carlier, Robert-Yves, Quijano-Roy, Susana, Romero, Norma B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 701 KB

english, 2016

16

A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency

Hedberg-Oldfors, Carola, Darin, Niklas, Olsson Engman, Mia, Orfanos, Zacharias, Thomsen, Christer, van der Ven, Peter F M, Oldfors, Anders

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 4.03 MB

english, 2016

17

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

Hedberg-Oldfors, Carola, Glamuzina, Emma, Ruygrok, Peter, Anderson, Lisa J., Elliott, Perry, Watkinson, Oliver, Occleshaw, Chris, Abernathy, Malcolm, Turner, Clinton, Kingston, Nicola, Murphy, Elaine,

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 4.13 MB

english, 2017

18

Start codon mutation ofGYG1causing late-onset polyglucosan body myopathy with nemaline rods

Tasca, Giorgio, Fattori, Fabiana, Monforte, Mauro, Hedberg-Oldfors, Carola, Sabatelli, Mario, Udd, Bjarne, Boldrini, Renata, Bertini, Enrico, Ricci, Enzo, Oldfors, Anders

Journal:

Journal of Neurology

Year:

2016

Language:

english

File:

PDF, 1.07 MB

english, 2016

19

Muscle pathology in Vici syndrome–A case study with a novel mutation in EPG5 and a summary of the literature

Hedberg-Oldfors, Carola, Darin, Niklas, Oldfors, Anders

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 4.36 MB

english, 2017

20

Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male

Hedberg-Oldfors, Carola, Visuttijai, Kittichate, Topa, Alexandra, Tulinius, Mar, Oldfors, Anders

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 2.09 MB

english, 2017

21

Distinctive cerebral neuropathology in an adult case of SANDO syndrome

Kirschenbaum, Daniel, Hedberg-Oldfors, Carola, Oldfors, Anders, Scherer, Eduard, Budka, Herbert

Journal:

Neuropathology and Applied Neurobiology

Year:

2017

Language:

english

File:

PDF, 345 KB

english, 2017

22

Tubular aggregates in congenital myasthenic syndrome

Feresiadou, Amalia, Casar-Borota, Olivera, Dragomir, Anca, Oldfors, Carola Hedberg, Stålberg, Erik, Oldfors, Anders

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 699 KB

english, 2017

23

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

Hedberg-Oldfors, Carola, Lindberg, Christopher, Oldfors, Anders

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 788 KB

english, 2018

24

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

Roos, Sara, Sofou, Kalliopi, Hedberg-Oldfors, Carola, Kollberg, Gittan, Lindgren, Ulrika, Thomsen, Christer, Tulinius, Mar, Oldfors, Anders

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 2.47 MB

english, 2018

25

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

Ávila-Polo, Rainiero, Malfatti, Edoardo, Lornage, Xavière, Cheraud, Chrystel, Nelson, Isabelle, Nectoux, Juliette, Böhm, Johann, Schneider, Raphaël, Hedberg-Oldfors, Carola, Eymard, Bruno, Monges, Sol

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2018

Language:

english

File:

PDF, 2.13 MB

english, 2018

26

Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations

Michael, Eva, Hedberg-Oldfors, Carola, Wilmar, Philip, Visuttijai, Kittichate, Oldfors, Anders, Darin, Niklas

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 1.32 MB

english, 2018

27

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24

Hedberg-Oldfors, Carola, Abramsson, Alexandra, Osborn, Daniel P S, Danielsson, Olof, Fazlinezhad, Afsoon, Nilipour, Yalda, Hübbert, Laila, Nennesmo, Inger, Visuttijai, Kittichate, Bharj, Jaipreet, Pet

Journal:

Human Molecular Genetics

Year:

2019

File:

PDF, 9.59 MB

2019

28

Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene

Meinert, Monika, Englund, Elisabet, Hedberg-Oldfors, Carola, Oldfors, Anders, Kornhall, Björn, Lundin, Catarina, Wittström, Elisabeth

Journal:

Ophthalmic Genetics

Year:

2019

Language:

english

File:

PDF, 1.98 MB

english, 2019

29

TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism

Jennions, Elizabeth, Hedberg‐Oldfors, Carola, Berglund, Anna‐Karin, Kollberg, Gittan, Törnhage, Carl‐Johan, Eklund, Erik A., Oldfors, Anders, Verloo, Patrick, Vanlander, Arnaud V., Meirleir, Linda De,

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 10.43 MB

english, 2019

30

Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene

Meinert, Monika, Englund, Elisabet, Hedberg-Oldfors, Carola, Oldfors, Anders, Kornhall, Björn, Lundin, Catarina, Wittström, Elisabeth

Journal:

Ophthalmic Genetics

Year:

2019

File:

PDF, 1.98 MB

2019

31

Glycogenin is dispensable for glycogen synthesis in human muscle and glycogenin deficiency causes polyglucosan storage

Visuttijai, Kittichate, Carola, Hedberg-Oldfors, Thomsen, Christer, Glamuzina, Emma, Kornblum, Cornelia, Tasca, Giorgio, Hernandez-Lain, Aurelio, Sandstedt, Joakim, Dellgren, Göran, Roach, Peter, Oldf

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2019

File:

PDF, 1.81 MB

2019

32

Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency

Hedberg-Oldfors, Carola, De Ridder, Willem, Kalev, Ognian, Böck, Klaus, Visuttijai, Kittichate, Caravias, Georg, Töpf, Ana, Straub, Volker, Baets, Jonathan, Oldfors, Anders

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 1.52 MB

english, 2019

33

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

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

Journal:

Acta Neuropathologica Communications

Year:

2019

File:

PDF, 1.58 MB

2019

34

RBCK1 -related disease: A rare multisystem disorder with polyglucosan storage, autoinflammation, recurrent infections, skeletal and cardiac myopathy - four additional patients and a review of the current literature

Phadke, Rahul, Hedberg-Oldfors, Carola, Scalco, Renata S., Lowe, David M., Ashworth, Michael, Novelli, Marco, Vara, Roshni, Merwick, Aine, Amer, Halima, Sofat, Reecha, Sugarman, Max, Jovanovic, Ana, R

Journal:

Journal of Inherited Metabolic Disease

Year:

2020

Language:

english

File:

PDF, 2.13 MB

english, 2020

35

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

Hedberg-Oldfors, Carola, Macao, Bertil, Basu, Swaraj, Lindberg, Christopher, Peter, Bradley, Erdinc, Direnis, Uhler, Jay P., Larsson, Erik, Falkenberg, Maria, Oldfors, Anders

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 949 KB

2020

36

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

Hedberg-Oldfors, Carola, Darin, Niklas, Thomsen, Christer, Lindberg, Christopher, Oldfors, Anders

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 747 KB

2020

37

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles

Hedberg-Oldfors, Carola, Meyer, Robert, Nolte, Kay, Abdul Rahim, Yassir, Lindberg, Christopher, Karason, Kristjan, Thuestad, Inger Johanne, Visuttijai, Kittichate, Geijer, Mats, Begemann, Matthias, Kr

Journal:

Year:

2020

File:

PDF, 2.11 MB

2020