Carola Hedberg: search on Z-Library

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1

Severe occupational chromium allergy despite cement legislation

Hedberg, Yolanda S., Gumulka, Martin, Lind, Marie-Louise, Matura, Mihály, Lidén, Carola

Journal:

Contact Dermatitis

Year:

2014

Language:

english

File:

PDF, 158 KB

english, 2014

2

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

3

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

4

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

5

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

6

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

7

SKY analysis revealed recurrent numerical and structural chromosome changes in BDII rat endometrial carcinomas

Eva Falck, Carola Hedberg, Karin Klinga-Levan, Afrouz Behboudi

Journal:

Cancer Cell International

Year:

2011

Language:

english

File:

PDF, 2.67 MB

english, 2011

8

Corrigendum to “Correlation between bulk- and surface chemistry of Cr-tanned leather and the release of Cr(III) and Cr(VI)” [J. Hazard. Mater. 280 (2014) 654–661]

Hedberg, Yolanda, Lidén, Carola, Odnevall Wallinder, Inger

Journal:

Journal of Hazardous Materials

Year:

2015

Language:

english

File:

PDF, 126 KB

english, 2015

9

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

10

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

11

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

12

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

13

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

14

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

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

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

17

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

18

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

19

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

20

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

21

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

22

Correlation between bulk- and surface chemistry of Cr-tanned leather and the release of Cr(III) and Cr(VI)

Hedberg, Yolanda S., Lidén, Carola, Odnevall Wallinder, Inger

Journal:

Journal of Hazardous Materials

Year:

2014

Language:

english

File:

PDF, 1.75 MB

english, 2014

23

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

24

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

25

Chromium(III) and chromium(VI) release from leather during 8 months of simulated use

Hedberg, Yolanda S., Lidén, Carola

Journal:

Contact Dermatitis

Year:

2016

Language:

english

File:

PDF, 501 KB

english, 2016

26

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

27

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

28

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

29

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

30

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

31

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

32

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

33

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

34

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

35

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

36

Non-oxidative hair dye products on the European market: What do they contain?

Hedberg, Yolanda S., Uter, Wolfgang, Banerjee, Piu, Lind, Marie-Louise, Skovvang Steengaard, Sanne, Teo, Ying, Lidén, Carola

Journal:

Contact Dermatitis

Year:

2018

Language:

english

File:

PDF, 1.05 MB

english, 2018

37

Chromium released from leather - I: exposure conditions that govern the release of chromium(III) and chromium(VI)

Hedberg, Yolanda S., Lidén, Carola, Odnevall Wallinder, Inger

Journal:

Contact Dermatitis

Year:

2015

Language:

english

File:

PDF, 671 KB

english, 2015

38

Chromium(III) release from chromium-tanned leather elicits allergic contact dermatitis: a use test study

Hedberg, Yolanda S., Erfani, Behnaz, Matura, Mihály, Lidén, Carola

Journal:

Contact Dermatitis

Year:

2018

Language:

english

File:

PDF, 442 KB

english, 2018

39

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

40

Polyglucosan storage myopathies

Hedberg-Oldfors, Carola, Oldfors, Anders

Journal:

Molecular Aspects of Medicine

Year:

2015

Language:

english

File:

PDF, 9.12 MB

english, 2015

41

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

42

Chromium released from leather - II: the importance of environmental parameters

Mathiason, Frederik, Lidén, Carola, Hedberg, Yolanda S.

Journal:

Contact Dermatitis

Year:

2015

Language:

english

File:

PDF, 1.16 MB

english, 2015

43

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

44

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

45

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

46

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

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