Hedberg-Oldfors: search on Z-Library

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

Don't use scam websites

1

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

2

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

3

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

4

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

5

Polyglucosan storage myopathies

Hedberg-Oldfors, Carola, Oldfors, Anders

Journal:

Molecular Aspects of Medicine

Year:

2015

Language:

english

File:

PDF, 9.12 MB

english, 2015

6

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

7

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

8

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

9

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

10

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

11

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

12

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

13

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

14

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

15

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

16

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

17

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

18

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

19

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

20

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

21

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

22

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

23

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

24

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

25

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

26

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

27

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

28

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

29

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

30

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

31

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

32

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

33

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES

Malfatti, E., Avila-Polo, R., Lornage, X., Nelson, I., Nectoux, J., Bohm, J., Hedberg-Oldfors, C., Eymard, B., Monges, S., Lubieniecki, F., Brochier, G., Madelaine, A., Labasse, C., Taratuto, A., Udd,

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 107 KB

english, 2018

34

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

35

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

Laforêt, Pascal, Inoue, Michio, Goillot, Evelyne, Lefeuvre, Claire, Cagin, Umut, Streichenberger, Nathalie, Leonard-Louis, Sarah, Brochier, Guy, Madelaine, Angeline, Labasse, Clemence, Hedberg-Oldfors

Journal:

Acta Neuropathologica Communications

Year:

2019

Language:

english

File:

PDF, 2.22 MB

english, 2019

36

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

37

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

38

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

39

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

40

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

41

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

42

AUTOIMMUNE MYOPATHIES

Oldfors, A., Hedberg-Oldfors, C., Basu, S., Lindgren, U., Lindberg, C., Larsson, E., Falkenberg, M.

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 49 KB

2020

43

AUTOPHAGIC MYOPATHIES / MYOFIBRILLAR MYOPATHIES / DISTAL MYOPATHIES / POMPE DISEASE

Hedberg-Oldfors, C., Study Group, Supervillin

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 63 KB

2020

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