Hedberg Oldfors, C.: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

Hedberg, C., Melberg, A., Dahlbom, K., Oldfors, A.

Journal:

Year:

2014

Language:

english

File:

PDF, 163 KB

english, 2014

2

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

Ohlsson, M., Hedberg, C., Bradvik, B., Lindberg, C., Tajsharghi, H., Danielsson, O., Melberg, A., Udd, B., Martinsson, T., Oldfors, A.

Journal:

Year:

2012

Language:

english

File:

PDF, 1.36 MB

english, 2012

3

MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES

Roos, S., Hedberg-Oldfors, C., Visuttijai, K., Kollberg, G., Lindberg, C., Darin, N., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 58 KB

2020

4

MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES

Phadke, R., Hedberg-Oldfors, C., Scalco, R., Lowe, D., Ashworth, M., Novelli, M., Vara, R., Merwick, A., Amer, H., Sofat, R., Sugarman, M., Jovanovic, A., Roberts, M., Nakou, V., King, A., Bodi, I., J

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 65 KB

2020

5

P3.40 Myopathy in a woman and her daughter associated with a novel MTM1 mutation

C. Hedberg, C. Lindberg, M. Máthé, A.R. Moslemi, A. Oldfors

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 48 KB

english, 2011

6

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

7

C.P.9 A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with unusual clinical presentation and necklace fibres

Casar-Borota, O., Jacobsson, J., Libelius, R., Moslemi, A.R., Hedberg, C., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

8

G.O.2 Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

Hedberg, C., Ohlsson, M., Brådvik, B., Lindberg, C., Tajsharghi, H., Danielsson, O., Melberg, A., Udd, B., Martinsson, T., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

9

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

10

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

11

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

12

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

13

P.15.12 Tubular aggregate myopathy caused by a heterozygous missense mutation in STIM1

Oldfors, A., Hedberg, C., Lindvall, B., Tulinius, M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

14

P.16.13 Myopathy with typical OPMD morphology without association with the PABPN1 gene locus

Hedberg, C., Chinnery, P., Lindberg, C., Martinsson, T., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

15

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

16

A.P.7

Hedberg, C., Toledo, A. Gomez, Gustafsson, C.M., Larson, G., Oldfors, A., Macao, B.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 45 KB

english, 2014

17

A.P.15

Máthé, G., Hedberg, C., Thomson, K., Karason, K., Östman-Smith, I., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 48 KB

english, 2014

18

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

19

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

20

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

21

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

22

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

23

Polyglucosan storage myopathies

Hedberg-Oldfors, Carola, Oldfors, Anders

Journal:

Molecular Aspects of Medicine

Year:

2015

Language:

english

File:

PDF, 9.12 MB

english, 2015

24

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

C. Hedberg Oldfors, D. G. Dios, A. Linder, K. Visuttijai, E. Samuelson, S. Karlsson, S. Nilsson, A. Behboudi

Year:

2015

Language:

english

File:

PDF, 1.35 MB

english, 2015

25

A novel neuromuscular form of glycogen storage disease type IV characterized by spinal stiffness, arthrogrypotic features, and rare polyglucosan bodies in muscle biopsy

Malfatti, E., Barnerias, C., Hedberg-Oldfors, C., Gitiaux, C., Allamand, V., Carlier, R., Oldfors, A., Quijano-Roy, S., Romero, N.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 226 KB

english, 2015

26

Mitochondrial pathology in inclusion body myositis

Lindgren, U., Roos, S., Hedberg Oldfors, C., Moslemi, A., Lindberg, C., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 218 KB

english, 2015

27

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

Hedberg Oldfors, C., Topa, A., Tulinius, M., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

28

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

29

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

30

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

31

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

32

Novel GYG1 mutation causing late-onset polyglucosan body myopathy with nemaline rods

Tasca, G., Fattori, F., Monforte, M., Hedberg-Oldfors, C., Sabatelli, M., Udd, B., Boldrini, R., Bertini, E., Ricci, E., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 208 KB

english, 2016

33

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

34

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

35

Hypertrophic cardiomyopathy and abnormal glycogen storage in heart and skeletal muscle associated with inactivation of KLHL24

Hedberg-Oldfors, C., Danielsson, O., Hübbert, L., Nennesmo, I., Abramsson, A., Banote, R., Edling, M., Zetterberg, H., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

36

Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1

Darin, N., Hedberg-Oldfors, C., Kroksmark, A.-K., Moslemi, A.-R., Kollberg, G., Oldfors, A.

Journal:

European Journal of Neurology

Year:

2017

Language:

english

File:

PDF, 778 KB

english, 2017

37

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

38

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

39

A novel mutation in EPG5 cause Vici syndrome with vacuolar myopathy

Hedberg-Oldfors, C., Darin, N., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 207 KB

english, 2016

40

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

41

Exercise intolerance in a large multigeneration family associated with a homoplasmic mitochondrial DNA mutation in MT-TL1

Darin, N., Hedberg-Oldfors, C., Kroksmark, A., Moslemi, A., Kollberg, G., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 238 KB

english, 2017

42

Acylcarnitine profile mimicking multiple acyl-CoA dehydrogenase deficiency in a patient with mitochondrial myopathy and a mutation in MT-CO2

Roos, S., Sofou, K., Hedberg-Oldfors, C., Kollberg, G., Lindgren, U., Thomsen, C., Asin-Cayuela, J., Tulinius, M., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 238 KB

english, 2017

43

Severe X-linked myotubular myopathy with unexpected inheritance from the grandfather and identification of necklace fibers in an asymptomatic male

Hedberg-Oldfors, C., Visuttijai, K., Topa, A., Tulinius, M., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 228 KB

english, 2017

44

Polyglucosan myopathy and functional characterization of a novel GYG1 mutation

Hedberg-Oldfors, C., Mensch, A., Visuttijai, K., Stoltenburg, G., Stoevesandt, D., Kraya, T., Oldfors, A., Zierz, S.

Journal:

Acta Neurologica Scandinavica

Year:

2017

Language:

english

File:

PDF, 1.26 MB

english, 2017

45

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

46

Cover Image

Hedberg-Oldfors, C., Mensch, A., Visuttijai, K., Stoltenburg, G., Stoevesandt, D., Kraya, T., Oldfors, A., Zierz, S.

Journal:

Acta Neurologica Scandinavica

Year:

2018

File:

PDF, 685 KB

2018

47

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

48

CONGENITAL MYOPATHIES: GENERAL AND RYR1

Hedberg-Oldfors, C., Lindberg, C., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

49

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

50

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

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски