Oldfors, A.: search on Z-Library

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1

Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas

Dr. Nils-Göran Larsson, Dr. Mar H. Tulinius, Dr. Elisabeth Holme, Dr. Anders Oldfors

Journal:

Year:

1995

Language:

english

File:

PDF, 466 KB

english, 1995

2

Inclusion body myositis: morphological clues to correct diagnosis

K. Dahlbom, C. Lindberg, A. Oldfors

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 314 KB

english, 2002

3

Myopathology in the times of modern genetics

Schuelke, M., Øien, N. C., Oldfors, A.

Journal:

Neuropathology and Applied Neurobiology

Year:

2017

Language:

english

File:

PDF, 2.26 MB

english, 2017

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

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

6

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

7

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7

Homa Tajsharghi, Lars-Eric Thornell, Christopher Lindberg, Björn Lindvall, Karl-Gösta Henriksson, Anders Oldfors

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 636 KB

english, 2003

8

Premature ageing in mice expressing defective mitochondrial DNA polymerase

Trifunovic, Aleksandra, Wredenberg, Anna, Falkenberg, Maria, Spelbrink, Johannes N., Rovio, Anja T., Bruder, Carl E., Bohlooly-Y, Mohammad, Gidlöf, Sebastian, Oldfors, Anders, Wibom, Rolf

Journal:

Year:

2004

Language:

english

File:

PDF, 528 KB

english, 2004

9

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

10

Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism

Atle Melberg, Henrik Arnell, Niklas Dahl, Erik Stålberg, Raili Raininko, Anders Oldfors, Benjamin Bakall, Per Olov Lundberg, Elisabeth Holme

Journal:

Year:

1996

Language:

english

File:

PDF, 892 KB

english, 1996

11

Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing

HedbergâOldfors, Carola, Lindgren, Ulrika, Basu, Swaraj, Visuttijai, Kittichate, Lindberg, Christopher, Falkenberg, Maria, Larsson Lekholm, Erik, Oldfors, Anders

Journal:

Brain Pathology

Year:

2020

File:

PDF, 54.34 MB

2020

12

Prognosis and prognostic factors in sporadic inclusion body myositis

C. Lindberg, A. Oldfors

Journal:

Acta Neurologica Scandinavica

Year:

2012

Language:

english

File:

PDF, 252 KB

english, 2012

13

Hypoxic cardiac fibroblasts from failing human hearts decrease cardiomyocyte beating frequency in an ALOX15 dependent manner

Sandstedt, Mikael, Rotter Sopasakis, Victoria, Lundqvist, Annika, Vukusic, Kristina, Oldfors, Anders, Dellgren, Göran, Sandstedt, Joakim, Hultén, Lillemor Mattsson, Minamino, Tohru

Journal:

Year:

2018

Language:

english

File:

PDF, 5.19 MB

english, 2018

14

De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring

Már H. Tulinius, Massoud Houshmand, Nils-Göran Larsson, Elisabeth Holme, Anders Oldfors, Eva Holmberg, Jan Wahlström

Journal:

Year:

1995

Language:

english

File:

PDF, 434 KB

english, 1995

15

Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: clinical and molecular genetic study

Petri Luoma, Atle Melberg, Juha O Rinne, Jyrki A Kaukonen, Nina N Nupponen, Richard M Chalmers, Anders Oldfors, Ilkka Rautakorpi, Leena Peltonen, Kari Majamaa, Hannu Somer, Anu Suomalainen

Journal:

Year:

2004

Language:

english

File:

PDF, 470 KB

english, 2004

16

Effects of growth hormone on muscle regeneration and IGF-I concentration in old rats

M. ULLMAN, A. ULLMAN, H. SOMMERLAND, A. SKOTTNER, A. OLDFORS

Journal:

Acta Physiologica

Year:

1990

Language:

english

File:

PDF, 388 KB

english, 1990

17

P1.35 Amphiphysin 2 (BIN1) and triad defects in several forms of centronuclear myopathies

A. Toussaint, M. Maurer, B.S. Cowling, K. Hnia, M. Mohr, A. Oldfors, Y. Schwab, U. Yis, T. Maisonobe, T. Stojkovic, V. Laugel, A. Echaniz-Laguna, S. Blot, J.L. Mandel, L. Tiret, I. Nishino, J. Laporte

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 40 KB

english, 2010

18

Reply

Elisabeth Holme, Nils-Göran Larsson, Anders Oldfors, Már Tulinius

Journal:

The Journal of Pediatrics

Year:

1992

Language:

english

File:

PDF, 199 KB

english, 1992

19

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

20

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

21

P.15.8 Hereditary myopathy with early respiratory failure (HMERF) – Rapid increase of identified titinopathy families worldwide

Palmio, J., Evila, A., Tasca, G., Edstrom, L., Oldfors, A., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

22

G.P.184

Roos, S., Lindgren, U., Ehrstedt, C., Moslemi, A.R., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 43 KB

english, 2014

23

New morphologic and genetic findings in cap disease associated with -tropomyosin (TPM2) mutations

Ohlsson, M., Quijano-Roy, S., Darin, N., Brochier, G., Lacene, E., Avila-Smirnow, D., Fardeau, M., Oldfors, A., Tajsharghi, H.

Journal:

Year:

2008

Language:

english

File:

PDF, 832 KB

english, 2008

24

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

25

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations

Olivé, Montse, Abdul-Hussein, Saba, Oldfors, Anders, González-Costello, José, van der Ven, Peter F.M., Fürst, Dieter O., González, Laura, Moreno, Dolores, Torrejón-Escribano, Benjamín, Alió, Josefina,

Journal:

Human Molecular Genetics

Year:

2015

File:

PDF, 36 KB

2015

26

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

27

5698Parvovirus B19 in endomyocardial biopsy of patients with idiopathic dilated cardiomyopathy: foe or bystander?

Hjalmarsson, C., Liljeqvist, J.Å., Lindh, M., Karason, K., Bollano, E., Oldfors, A., Andersson, B.

Journal:

European Heart Journal

Year:

2017

Language:

english

File:

PDF, 500 KB

english, 2017

28

The atrioventricular junction - a potential niche region for progenitor cells in the adult human heart

Vukusic, Kristina, Sandstedt, Mikael, Jonsson, Marianne, Jansson, Märta, Oldfors, Anders, Jeppson, Anders, Dellgren, Göran, Lindahl, Anders, Sandstedt, Joakim

Journal:

Stem Cells and Development

Year:

2019

Language:

english

File:

PDF, 2.02 MB

english, 2019

29

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

30

T cell receptor β-chain repertoire in inclusion body myositis

Ing-Marie Fyhr, Ali-Reza Moslemi, Christopher Lindberg, Anders Oldfors

Journal:

Journal of Neuroimmunology

Year:

1998

Language:

english

File:

PDF, 515 KB

english, 1998

31

G.P.14.10 Myalgia and exercise-induced myoglobinuria is frequent in LGMD 2I

C. Lindberg, C. Sixt, A. Oldfors

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 45 KB

english, 2008

32

D.I.2 Myosin myopathies and distal arthrogryposis syndromes

A. Oldfors, H. Tajsharghi, E. Kimber, N. Darin, C. Lindberg

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 35 KB

english, 2010

33

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

34

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

35

A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy

Roos, Sara, Darin, Niklas, Kollberg, Gittan, Andersson Grönlund, Marita, Tulinius, Mar, Holme, Elisabeth, Moslemi, Ali-Reza, Oldfors, Anders

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 507 KB

english, 2013

36

Mitochondrial Myopathy and Rhabdomyolysis Associated with a Novel Nonsense Mutation in the Gene Encoding Cytochrome c Oxidase Subunit I

Kollberg, Gittan, Moslemi, Ali-Reza, Lindberg, Christopher, Holme, Elisabeth, Oldfors, Anders

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2005

Language:

english

File:

PDF, 761 KB

english, 2005

37

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

38

Analysis of multiple mitochondrial DNA deletions in inclusion body myositis

Ali-Reza Moslemi, Christopher Lindberg, Anders Oldfors

Journal:

Year:

1997

Language:

english

File:

PDF, 238 KB

english, 1997

39

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

Nicot, Anne-Sophie, Toussaint, Anne, Tosch, Valérie, Kretz, Christine, Wallgren-Pettersson, Carina, Iwarsson, Erik, Kingston, Helen, Garnier, Jean-Marie, Biancalana, Valérie, Oldfors, Anders

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 561 KB

english, 2007

40

Episodes of exercise-induced dark urine and myalgia in LGMD 2I

C. Lindberg, C. Sixt, A. Oldfors

Journal:

Acta Neurologica Scandinavica

Year:

2012

Language:

english

File:

PDF, 136 KB

english, 2012

41

Inheritance and expression of mitochondrial DNA point mutations

Elisabeth Holme, Már H. Tulinius, Nils-Göran Larrson, Anders Oldfors

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

1995

Language:

english

File:

PDF, 346 KB

english, 1995

42

G.P.9.09 Autophagic vacuolar myopathy in a female patient

M. Ohlsson, C. Lindberg, A. Oldfors

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 45 KB

english, 2008

43

P.P.5 04 Regulation of muscle contraction in a novel myopathy associated with a mutation in the beta-tropomyosin (TPM2) gene

J. Ochala, E. Kimber, H. Tajshargi, M. Tulinius, A. Oldfors, L. Larsson

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 44 KB

english, 2006

44

Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function

Guillemette Fayet, Monica Jansson, Damien Sternberg, Ali-Reza Moslemi, Patricia Blondy, Anne Lombès, Michel Fardeau, Anders Oldfors

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 340 KB

english, 2002

45

New insights in the field of muscle glycogenoses

Oldfors, Anders, DiMauro, Salvatore

Journal:

Current Opinion in Neurology

Year:

2013

Language:

english

File:

PDF, 997 KB

english, 2013

46

Down-Regulation of Mitochondrial Transcription Factor a During Spermatogenesis in Humans

Larsson, N.-G., Oldfors, A., David Garman, J., Barsh, G. S., Clayton, D. A.

Journal:

Human Molecular Genetics

Year:

1997

Language:

english

File:

PDF, 367 KB

english, 1997

47

ANATOMICAL STUDY OF THE STRUCTURES AT THE ROOF OF THE ORBIT WITH SPECIAL REFERENCE TO THE CHECK LIGAMENT OF THE SUPERIOR FORNIX

Holmström, Hans, Bernström-Lundberg, Christina, Oldfors, Anders

Journal:

Scandinavian Journal of Plastic and Reconstructive Surgery and Hand Surgery

Year:

2002

Language:

english

File:

PDF, 843 KB

english, 2002

48

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

49

55 GASTROINTESTINAL INVOLVEMENT IN TWO GIRLS WITH LARGE DELETIONS OF mtDNA

Kristiansson, Bengt, Tulinius, Mar, Oldfors, Anders, Larsson, Nils-Göran, Holme, Elisabeth

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

1994

File:

PDF, 121 KB

1994

50

Proteomic characterization of polyglucosan bodies in patients with RBCK1 deficiency

Thomsen, C., Malfatti, E., Jovanovic, A., Roberts, M., Kalev, O., Lindberg, C., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

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