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Thomas Sejersen

Professor/senior physician

Visiting address : Karolinska Universitetssjukhuset, Q2:07 17176 Stockholm, Sweden
Postal address : Department of Women's and Children's Health (KBH), K6, Division of Pediatric Neurology, Karolinska Universitetssjukhuset, Q2:07 17176 Stockholm, Sweden
Delivery address : Karolinska Universitetssjukhuset, Q2:07 17176 Stockholm, Sweden

Publications

A protocol to develop clinical guidelines for inclusion-body myositis
Jones Kl, Sejersen T, Amato Aa, Hilton-jones D, Schmidt J, Wallace Ac, et al
Muscle & nerve 2016;53(4):503-7

Desmin mutations depress mitochondrial metabolism
Smolina N, Gogvadze V, Sejersen T, Kostareva A
CARDIOVASCULAR RESEARCH 2016;:S110-S110

Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing
Kostareva A, Kiselev A, Gudkova A, Frishman G, Ruepp A, Frishman D, et al
PLOS ONE 2016;11(9):e0163362-

Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy
Mcdonald Cm, Meier T, Voit T, Schara U, Straathof Cs, D'angelo Mg, et al
Neuromuscular disorders : NMD 2016;26(8):473-80

Information and treatment decisions in severe spinal muscular atrophy: A parental follow-up
Lövgren M, Sejersen T, Kreicbergs U
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2016;20(6):830-838

Knockdown of fast skeletal myosin-binding protein C in zebrafish results in a severe skeletal myopathy
Li M, Andersson-lendahl M, Sejersen T, Arner A
The Journal of general physiology 2016;147(4):309-22

Parents' Experiences and Wishes at End of Life in Children with Spinal Muscular Atrophy Types I and II
Lövgren M, Sejersen T, Kreicbergs U
The Journal of pediatrics 2016;175():201-5

Progressive cardiac conduction disease associated with a DSP gene mutation
Kiselev A, Mikhaylov E, Parmon E, Sjoberg G, Sejersen T, Tarnovskaya S, et al
International journal of cardiology 2016;216():188-9

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands
Finkel R, Bertini E, Muntoni F, Mercuri E, Enmc Sma Workshop Study Group
Neuromuscular disorders : NMD 2015;25(7):593-602

Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial
Buyse Gm, Voit T, Schara U, Straathof Cs, D'angelo Mg, Bernert G, et al
Lancet (London, England) 2015;385(9979):1748-57

Primary Murine Myotubes as a Model for Investigating Muscular Dystrophy
Smolina N, Kostareva A, Bruton J, Karpushev A, Sjoberg G, Sejersen T
BioMed research international 2015;2015():594751-

TREAT-NMD (translational research in Europe, assessment and treatment for neuromuscular disorders)
Aartsma-rus A, Hoffman E, Bucella F, Flanigan K, Kirschner J, Kole A, et al
NEUROMUSCULAR DISORDERS 2015;:S271-S271

Various lamin A/C mutations alter expression profile of mesenchymal stem cells in mutation specific manner
Malashicheva A, Bogdanova M, Zabirnyk A, Smolina N, Ignatieva E, Freilikhman O, et al
Molecular genetics and metabolism 2015;115(2-3):118-27

Aggregate-prone desmin mutations impair mitochondrial calcium uptake in primary myotubes
Smolina N, Bruton J, Sjoberg G, Kostareva A, Sejersen T
Cell calcium 2014;56(4):269-75

Aggregate prone desmin mutations reduced mitochondrial calcium uptake in primary myotubes upon electrical stimulation
Smolina N, Bruton J, Sjoberg G, Kostareva A, Sejersen T
CARDIOVASCULAR RESEARCH 2014;:-

Aggregate prone desmin mutations reduced mitochondrial calcium uptake in primary myotubes upon electrical stimulation
Kostareva A, Smolina N, Bruton J, Sjoberg G, Sejersen T
EUROPEAN HEART JOURNAL 2014;:109-109

Approach to the diagnosis of congenital myopathies
Int Stand Care Comm Congenital Myo, North Kn, Wang Ch, Clarke N, Jungbluth H, Vainzof M, et al
NEUROMUSCULAR DISORDERS 2014;24(2):97-116

ATALUREN TREATMENT OF PATIENTS WITH NONSENSE MUTATION DYSTROPHINOPATHY
Ptc124-gd-007-dmd Study Grp, Bushby K, Finkel R, Wong B, Barohn R, Campbell C, et al
MUSCLE & NERVE 2014;50(4):477-87

Diagnostic approach to the congenital muscular dystrophies
Int Stand Care Comm Congenital Mus, Bonnemann Cg, Wang Ch, Quijano-roy S, Deconinck N, Bertini E, et al
NEUROMUSCULAR DISORDERS 2014;24(4):289-311

Genetic spectrum of idiopathic restrictive cardiomyopathy uncovered by new generation sequencing
Kostareva A, Gudkova A, Kiselev A, Zlotina A, Smolina N, Klyushina A, et al
CARDIOVASCULAR RESEARCH 2014;:-

Genetic spectrum of idiopathic restrictive cardiomyopathy uncovered by NGS
Kostareva A, Gudkova A, Kiselev A, Zlotina A, Klyushina A, Hodyuchenko T, et al
EUROPEAN HEART JOURNAL 2014;:534-534

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
Bladen Cl, Thompson R, Jackson Jm, Garland C, Wegel C, Ambrosini A, et al
Journal of neurology 2014;261(1):152-63

Muscle dysfunction and structural defects of dystrophin-null sapje mutant zebrafish larvae are rescued by ataluren treatment
Li M, Andersson-lendahl M, Sejersen T, Arner A
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2014;28(4):1593-9

188th ENMC International Workshop: Inclusion Body Myositis, 2-4 December 2011, Naarden, The Netherlands
Enmc Ibm Working Grp, Rose Mr
NEUROMUSCULAR DISORDERS 2013;23(12):1044-55

Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes
Gudkova A, Kostareva A, Sjoberg G, Smolina N, Turalchuk M, Kuznetsova I, et al
Pediatric cardiology 2013;34(2):467-70

Genetic spectrum of cardiomyopathies with neuromuscular phenotype
Kostareva A, Sejersen T, Sjoberg G
Frontiers in bioscience (Scholar edition) 2013;5():325-40

Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational
Mccormack P, Woods S, Aartsma-rus A, Hagger L, Herczegfalvi A, Heslop E, et al
PLoS currents 2013;5():-

Knockdown of desmin in zebrafish larvae affects interfilament spacing and mechanical properties of skeletal muscle
Li M, Andersson-lendahl M, Sejersen T, Arner A
The Journal of general physiology 2013;141(3):335-45

The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study
Mcdonald Cm, Henricson Ek, Abresch Rt, Florence J, Eagle M, Gappmaier E, et al
Muscle & nerve 2013;48(3):357-68

The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study
Mcdonald Cm, Henricson Ek, Abresch Rt, Florence Jm, Eagle M, Gappmaier E, et al
Muscle & nerve 2013;48(3):343-56

Consensus Statement on Standard of Care for Congenital Myopathies
Wang Ch, Dowling Jj, North K, Schroth Mk, Sejersen T, Shapiro F, et al
JOURNAL OF CHILD NEUROLOGY 2012;27(3):363-82

Effect of lamin A/C mutations on differentiation properties of adipose derived stromal cells
Zabirnik A, Smolina N, Malashicheva A, Omelchenko E, Sejersen T, Kostareva A
CARDIOVASCULAR RESEARCH 2012;:S14-S14

Standards of care in neuromuscular disorders
Sejersen T
NEUROMUSCULAR DISORDERS 2012;22(9-10):872-872

Desmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins
Kostareva A, Sjoberg G, Gudkova A, Smolina N, Semernin E, Shlyakhto E, et al
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2011;30(1):42-5

Individual patient (n=1) "trials" in Duchenne dystrophy Response
Lumc Duchenne Team, Aartsma-rus A, Furlong P, Vroom E, Van Ommen Gj, Niks E, et al
NEUROMUSCULAR DISORDERS 2011;21(7):527-528

A213V desmin substitution represents a rare polymorphism rather than disease-causing mutation and is more prevalent in patients with heart dilation of various origins.
Kostareva A, Malashicheva A, Sjoberg G, Gudkova A, Semernin E, Shlyakhto E, et al
CARDIOVASCULAR RESEARCH 2010;:S72-S72

Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies
Abbs S, Tuffery-giraud S, Bakker E, Ferlini A, Sejersen T, Mueller Cr
Neuromuscular disorders : NMD 2010;20(6):422-7

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies
Wang Ch, Bonnemann Cg, Rutkowski A, Sejersen T, Bellini J, Battista V, et al
JOURNAL OF CHILD NEUROLOGY 2010;25(12):1559-81

Desmin L345P transgenic mice exhibit morphological and biochemical features of amyloidosis of two distinct types
Klingstedt T, Kostareva A, Sjoberg G, Gudkova A, Nilsson P, Hammarstrom P, et al
EUROPEAN HEART JOURNAL 2010;:924-925

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management
Dmd Care Considerations Working, Bushby K, Finkel R, Birnkrant Dj, Case Le, Clemens Pr, et al
LANCET NEUROLOGY 2010;9(1):77-93

Hereditary Myopathy with Early Respiratory Failure (HMERF) - A Uniform Clinical Phenotype with Several Possible Genotypes
Edstrom Lg, Isberg B, Xiang Fq, Dahlbom K, Sejersen T, Udd B
NEUROLOGY 2010;74(9):A517-A518

Deletion in TNNI3 gene is associated with restrictive cardiomyopathy
Kostareva A, Gudkova A, Sjoberg G, Morner S, Semernin E, Krutikov A, et al
INTERNATIONAL JOURNAL OF CARDIOLOGY 2009;131(3):410-2

Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation
Mejaddam Ay, Nennesmo I, Sejersen T
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2009;28(3):91-3

Standards of Care for Duchenne Muscular Dystrophy: Brief Treat-NMD Recommendations
Treat Nmd Eu Network Excellence, Sejerson T, Bushby K
INHERITED NEUROMUSCULAR DISEASES: TRANSLATION FROM PATHMECHANISMS TO THERAPIES 2009;:13-21

Treat-NMD - An European network for neuromuscular diseases
Baumeister S, Scholz C, Straub V, Muller-reible C, Sejersen T, Lochmuller H, et al
MEDIZINISCHE GENETIK 2009;21(3):375-380

L345P desmin transgenic mice exhibit changes in mitochondrial Ca2+ handling
Kostareva A, Bruton J, Sjoberg G, Gudkova A, Westerblad H, Sejersen T
EUROPEAN JOURNAL OF CELL BIOLOGY 2008;87(7):449-450

Mice expressing L345P mutant desmin exhibit morphological and functional changes of skeletal and cardiac mitochondria
Kostareva A, Sjoberg G, Bruton J, Zhang Sj, Balogh J, Gudkova A, et al
JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY 2008;29(1):25-36

TREAT-NMD work on standards of diagnosis and care of NMDs
Sejersen Ts
NEUROMUSCULAR DISORDERS 2008;18(9-10):795-796

L345P desmin transgenic mice exhibit changes in mitochondrial Ca2+ handling
Kostareva A, Bruton J, Sjoberg G, Gudkova A, Westerblad H, Sejersen T
EUROPEAN HEART JOURNAL 2007;:795-795

Long-term follow-up of children with obstetric brachial plexus palsy I: functional aspects
Strombeck C, Krumlinde-sundholm L, Remahl S, Sejersen T
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY 2007;49(3):198-203

Long-term follow-up of children with obstetric brachial plexus palsy II: neurophysiological aspects
Strombeck C, Remahl S, Krumlinde-sundholm L, Sejersen T
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY 2007;49(3):204-9

Sustained favorable effects of cognitive training in children with acquired brain injuries
Van 't Hooft I, Andersson K, Bergman B, Sejersen T, Von Wendt L, Bartfai A
NEUROREHABILITATION 2007;22(2):109-16

Deletion in the cardiac troponin I gene, resulting in premature stop codon, causes restrictive cardiomyopathy
Kostareva A, Gudkova A, Sjoberg G, Morner S, Semernin E, Krutikov A, et al
EUROPEAN HEART JOURNAL 2006;:542-542

Desmin mutations in a St. Petersburg cohort of cardiomyopathies
Kostareva A, Gudkova A, Sjoberg G, Kiselev I, Moiseeva O, Karelkina E, et al
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2006;25(3):109-15

Forced expression of desmin and desmin mutants in cultured cells: Impact of myopathic missense mutations in the central coiled-coil domain on network formation
Bar H, Kostareva A, Sjoberg G, Sejersen T, Katus Ha, Herrmann H
EXPERIMENTAL CELL RESEARCH 2006;312(9):1554-65

Variable pathogenic potentials of mutations located in the desmin alpha-helical domain
Goudeau B, Rodrigues-lima F, Fischer D, Casteras-simon M, Sambuughin N, De Visser M, et al
HUMAN MUTATION 2006;27(9):906-13

Beneficial effect from a cognitive training programme on children with acquired brain injuries demonstrated in a controlled study
Hooft Iv, Andersson K, Bergman B, Sejersen T, Von Wendt L, Bartfai A
Brain injury 2005;19(7):511-8

[Hereditary cardiomyopathies: a review. Mutation of structural proteins a common cause of hereditary cardiomyopathy]
Sjöberg G, Kostareva A, Sejersen T
Lakartidningen 2005;102(11):845-7

The kinase domain of titin controls muscle gene expression and protein turnover
Lange S, Xiang Fq, Yakovenko A, Vihola A, Hackman P, Rostkova E, et al
SCIENCE 2005;308(5728):1599-603

Intermediate filaments of muscle and related myopathies
Sejersen T
NEUROMUSCULAR DISORDERS 2004;14(8-9):561-561

Morphological features of cardiomyopathy in L345P desmin transgenic mice
Kostareva A, Sjoberg G, Gudkova A, Zhang S, Westerblad H, Sejersen T
NEUROMUSCULAR DISORDERS 2004;14(8-9):594-594

Attention and memory training in children with acquired brain injuries
Van't Hooft I, Andersson K, Sejersen T, Bartfai A, Von Wendt L
ACTA PAEDIATRICA 2003;92(8):935-40

Functional analyses of L345P desmin mutation associated with familial myopathy and cardiomyopathy
Kostareva A, Sjoberg G, Gudkova A, Sejersen T
NEUROMUSCULAR DISORDERS 2003;13(7-8):629-629

Morphological features of cardiomyopathy in L345P desmin mutation
Kostareva A, Sjoberg G, Gudkova A, Rybakova M, Sejersen T, Shlyakhto E
EUROPEAN HEART JOURNAL 2003;:695-695

Cytoskeletal derangements in hereditary myopathy with a desmin L345P mutation
Carlsson L, Fischer C, Sjoberg G, Robson Rm, Sejersen T, Thornell Le
ACTA NEUROPATHOLOGICA 2002;104(5):493-504

Lung clearance in children with Duchenne muscular dystrophy or spinal muscular atrophy with and without CPAP (continuous positive airway pressure)
Klefbeck B, Svartengren K, Camner P, Philipson K, Svartengren M, Sejersen T, et al
EXPERIMENTAL LUNG RESEARCH 2001;27(6):469-84

A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation
Sjoberg G, Saavedra-matiz Ca, Rosen Dr, Wijsman Em, Borg K, Horowitz Sh, et al
HUMAN MOLECULAR GENETICS 1999;8(12):2191-8

cDNA cloning and chromosomal localization of human alpha(11) integrin - A collagen-binding, I domain-containing, beta(1-)associated integrin alpha-chain present in muscle tissues
Velling T, Kusche-gullberg M, Sejersen T, Gullberg D
JOURNAL OF BIOLOGICAL CHEMISTRY 1999;274(36):25735-42

Pediatric rhabdomyosarcomas express the intermediate filament nestin
Kobayashi M, Sjoberg G, Soderhall S, Lendahl U, Sandstedt B, Sejersen T
PEDIATRIC RESEARCH 1998;43(3):386-92

Distribution of nestin in the developing mouse limb bud in vivo and in micro-mass cultures of cells isolated from limb buds
Wroblewski J, Engstrom M, Edwallarvidsson C, Sjoberg G, Sejersen T, Lendahl U
DIFFERENTIATION 1997;61(3):151-9

Nestin forms obligate heteropolymers with desmin and vimentin in vivo.
Sjoberg G, Meng Jj, Sejersen T, Ip W
MOLECULAR BIOLOGY OF THE CELL 1997;:2272-2272

Tenascin-C expression correlates with macrophage invasion in Duchenne muscular dystrophy and in myositis
Gullberg D, Velling T, Sjoberg G, Salmivirta K, Gaggero B, Tiger Cf, et al
NEUROMUSCULAR DISORDERS 1997;7(1):39-54

[Children with poliomyelitis in Sweden 1996]
Borg K, Sejersen T, Stålberg E, Wessgren A
Lakartidningen 1996;93(17):1637-8

Nestin distribution in the developing limb bud in vivo and in vitro
Wroblewski J, Engstrom M, Edwallarvidsson C, Sjoberg G, Sejersen T, Lendahl U
MOLECULAR AND DEVELOPMENTAL BIOLOGY OF CARTILAGE 1996;:353-5

ANALYSIS OF FIBRONECTIN AND VITRONECTIN RECEPTORS ON HUMAN FETAL SKELETAL-MUSCLE CELLS UPON DIFFERENTIATION
Gullberg D, Sjoberg G, Velling T, Sejersen T
EXPERIMENTAL CELL RESEARCH 1995;220(1):112-23

UP-REGULATION OF A NOVEL INTEGRIN ALPHA-CHAIN (ALPHA(MT)) ON HUMAN FETAL MYOTUBES
Gullberg D, Velling T, Sjoberg G, Sejersen T
DEVELOPMENTAL DYNAMICS 1995;204(1):57-65

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