Thomas Sejersen

Om mig
Publikationer
Populärvetenskap och samverkan

Om mig

Tomas Sejersen är överläkare på Astrid Lindgrens barnsjukhus och professor i neuropediatrik, särskilt neuromuskulära sjukdomar, vid Karolinska Institutet.

Forskningsbeskrivning

I Sverige finns cirka 200 olika former av ärftliga neuromuskulära sjukdomar. Många av dem är relativt ovanliga, men slår man ihop dem som grupp, drabbas ungefär ett barn på mellan 1000 och 1500. De flesta av dessa sjukdomar debuterar mycket tidigt i barndomen. Men vid lindringare former kan symtomen komma först i 50-årsåldern. Thomas Sejersen bedriver klinisk forskning kring främst spinal muskelatrofi (SMA) och Duchennes muskeldystrofi. Dystrofi innebär sönderfall av muskler.

Artiklar

Article: MOLECULAR THERAPY. 2025;33(6):2842-2850
Pilocytic astrocytoma in a child with spinal muscular atrophy treated with onasemnogene abeparvovec
Holzwarth D; Calaminus G; Friese J; Sejersen T; John-Neek P; Bastone AL; Rothe M; Libertini S; Kuzmiski B; Alecu I; Labik I; Kirschner J
Article: EUROPEAN JOURNAL OF HEALTH ECONOMICS. 2025;26(1):35-48
Healthcare resource utilisation and direct medical cost for individuals with 5q spinal muscular atrophy in Sweden
Sejersen T; Graham S; Ekstrom A-B; Kroksmark A-K; Kwiatkowska M; Ganz ML; Justo N; Gertow K; Simpson A
Article: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2025;54:130-139
Transition of patients with Duchenne muscular dystrophy from paediatric to adult care: An international Delphi consensus study
Castro D; Sejersen T; Bello L; Buccella F; Cairns A; Carranza-del Rio J; Groot IJM; Elman L; Inzani I; Klein A; Mayer OH; Miller H; Onofri A; Araujo APDQC; Schara-Schmidt U; Vanden Wyngaert K; Ward LM; Wilmshurst JM; Quinlivan R
Article: NEUROLOGY. 2024;103(8):e209883
Cancer Risk in Patients With Muscular Dystrophy and Myotonic Dystrophy
Maya-Gonzalez C; Tettamanti G; Taylan F; Nordenvall AS; Sejersen T; Nordgren A
Article: AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY. 2024;327(3):C516-C524
The rRNA epitranscriptome and myonuclear SNORD landscape in skeletal muscle fibers contributes to ribosome heterogeneity and is altered by a hypertrophic stimulus
Cui M; Jannig P; Halladjian M; Figueiredo VC; Wen Y; Vechetti IJ; Krogh N; Jude B; Edman S; Lanner J; Mccarthy J; Murach KA; Sejersen T; Nielsen H; von Walden F
Article: EXPERIMENTAL CELL RESEARCH. 2024;442(1):114174
Flnc expression impacts mitochondrial function, autophagy, and calcium handling in C2C12 cells
Klimenko ES; Sukhareva KS; Vlasova YA; Smolina NA; Fomicheva YV; Knyazeva A; Muravyev AS; Sorokina MY; Gavrilova LS; Boldyreva LV; Medvedeva SS; Sejersen T; Kostareva AA
Article: JOURNAL OF PEDIATRIC REHABILITATION MEDICINE. 2024;17(3):299-306
Experiences of families of children with spinal muscular atrophy and the healthcare professionals supporting them during the COVID-19 pandemic: A nationwide study.
Udo C; Lövgren M; Sejersen T; Kreicbergs U
Article: NEUROLOGY: CLINICAL PRACTICE. 2024;14(4):e200310
Spinal Muscular Atrophy Update in Best Practices
Schroth M; Deans J; Arya K; Castro D; De Vivo DC; Gibbons MA; Ionita C; Kuntz NL; Lakhotia A; Knierbein EN; Scoto M; Sejersen T; Servais L; Tian C; Waldrop MA; Vazquez-Costa JF
Article: SLEEP MEDICINE. 2024;119:574-583
International consensus on sleep problems in pediatric palliative care: Paving the way
Mercante A; Owens J; Bruni O; Nunes ML; Gringras P; Li SX; Papa S; Kreicbergs U; Wolfe J; Zernikow B; Lacerda A; Benini F
Article: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2024;51:73-78
2024 update: European consensus statement on gene therapy for spinal muscular atrophy
Kirschner J; Bernert G; Butoianu N; De Waele L; Fattal-Valevski A; Haberlova J; Moreno T; Klein A; Kostera-Pruszczyk A; Mercuri E; Quijano-Roy S; Sejersen T; Tizzano EF; van der Pol WL; Wallace S; Zafeiriou D; Ziegler A; Muntoni F; Servais L
Article: BMC NEUROLOGY. 2024;24(1):73
The role of ataluren in the treatment of ambulatory and non-ambulatory children with nonsense mutation duchenne muscular dystrophy - a consensus derived using a modified Delphi methodology in Eastern Europe, Greece, Israel and Sweden
Golli T; Jurikova L; Sejersen T; Dixon C
Article: NEUROLOGY. 2024;102(2):e207948
Bisphosphonates in Glucocorticoid-Treated Patients With Duchenne Muscular Dystrophy
Landfeldt E; Phung K; Zaman F; Astrom E; Abner S; Lochmuller H; Sejersen T; Ward LM
Article: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2023;46:67-73
Health-related quality of life of children with spinal muscular atrophy in Sweden: A prospective cohort study in the era of disease-modifying therapy
Landfeldt E; Udo C; Lovgren M; Sejersen T; Kreicbergs U
Article: CELL AND TISSUE RESEARCH. 2023;393(2):357-375
Desmin mutations impact the autophagy flux in C2C12 cell in mutation-specific manner
Sukhareva KS; Smolina NA; Churkina AI; Kalugina KK; Zhuk SV; Khudiakov AA; Khodot AA; Faggian G; Luciani GB; Sejersen T; Kostareva AA
Article: FRONTIERS IN NEUROLOGY. 2023;14:1170005
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders
Ek M; Nilsson D; Engvall M; Malmgren H; Thonberg H; Pettersson M; Anderlid B-M; Hammarsjo A; Helgadottir HT; Arnardottir S; Naess K; Nennesmo I; Paucar M; Hjartarson HT; Press R; Solders G; Sejersen T; Lindstrand A; Kvarnung M
Article: JOURNAL OF MEDICAL ECONOMICS. 2022;25(1):808-816
Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study
Landfeldt E; Zhang R; Childs A-M; Johannsen J; O'Rourke D; Sejersen T; Strautmanis J; Schara-Schmidt U; Tulinius M; Walter MC; Willis T; Buesch K
Journal article: VALUE IN HEALTH. 2022;25(12):s119
EE330 Productivity Losses Associated with Spinal Muscular Atrophy (SMA) in Adult Patients in Sweden Not Treated With Disease Modifying Therapies: A Population-Based Study
Simpson A; Gertow K; Sejersen T; Ekström; Kroksmark A; Graham S; Justo N; Kwiatkowska M; Ganz M; Virtanen O; Ramagopalan S
Article: ORPHANET JOURNAL OF RARE DISEASES. 2022;17(1):358
Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood
Muravyev A; Vershinina T; Tesner P; Sjoberg G; Fomicheva Y; Cajbikova NN; Kozyreva A; Zhuk S; Mamaeva E; Tarnovskaya S; Jornholt J; Sokolnikova P; Pervunina T; Vasichkina E; Sejersen T; Kostareva A
Article: JOURNAL OF CHILD HEALTH CARE. 2022;26(3):407-421
Parents' advice to other parents of children with spinal muscular atrophy: Two nationwide follow-ups
Hjorth E; Kreicbergs U; Sejersen T; Werlauff U; Rahbek J; Lovgren M
Article: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2022;40:57-60
Survival in patients diagnosed with SMA at less than 24 months of age in a population-based setting before, during and after introduction of nusinersen therapy. Experience from Sweden
Berglund A; Berko S; Lampa E; Sejersen T
Article: JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH. 2022;11(3):139-155
Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients.
McDonald CM; Muntoni F; Penematsa V; Jiang J; Kristensen A; Bibbiani F; Goodwin E; Gordish-Dressman H; Morgenroth L; Werner C; Li J; Able R; Trifillis P; Tulinius M; Study 019 investigators
Article: JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH. 2021;10(18):1337-1347
Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy.
Shieh PB; Elfring G; Trifillis P; Santos C; Peltz SW; Parsons JA; Apkon S; Darras BT; Campbell C; McDonald CM; Members of the Ataluren Phase IIb Study Group; Members of the Ataluren Phase IIb Study Clinical E; Members of the ACT DMD Study Group; Members of the ACT DMD Clinical Evaluator Training
Article: INTERNATIONAL JOURNAL OF QUALITATIVE STUDIES ON HEALTH AND WELL-BEING. 2021;16(1):1904722
"Suddenly we have hope that there is a future": two families' narratives when a child with spinal muscular atrophy receives a new drug
Hjorth E; Lovgren M; Kreicbergs U; Sejersen T; Asaba E
Article: GENES. 2020;11(11):E1343-1343
FLNC Expression Level Influences the Activity of TEAD-YAP/TAZ Signaling
Knyazeva A; Khudiakov A; Vaz R; Muravyev A; Sukhareva K; Sejersen T; Kostareva A
Article: GENES. 2020;11(10):E1201-1201
Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants
Jorholt J; Formicheva Y; Vershinina T; Kiselev A; Muravyev A; Demchenko E; Fedotov P; Zlotina A; Rygkov A; Vasichkina E; Sejersen T; Kostareva A
Article: JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH. 2020;9(14):973-984
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy
Campbell C; Barohn RJ; Bertini E; Chabrol B; Comi GP; Darras BT; Finkel RS; Flanigan KM; Goemans N; Iannaccone ST; Jones KJ; Kirschner J; Mah JK; Mathews KD; McDonald CM; Mercuri E; Nevo Y; Pereon Y; Ben Renfroe J; Ryan MM; Sampson JB; Schara U; Sejersen T; Selby K; Tulinius M; Vilchez JJ; Voit T; Wei L-J; Wong BL; Elfring G; Souza M; McIntosh J; Trifillis P; Peltz SW; Muntoni F
Article: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2020;28:38-43
European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy
Kirschner J; Butoianu N; Goemans N; Haberlova J; Kostera-Pruszczyk A; Mercuri E; van der Pol WL; Quijano-Roy S; Sejersen T; Tizzano EF; Ziegler A; Servais L; Muntoni F
Article: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 2020;1866(6):165745
Desmin mutations result in mitochondrial dysfunction regardless of their aggregation properties
Smolina N; Khudiakov A; Knyazeva A; Zlotina A; Sukhareva K; Kondratov K; Gogvadze V; Zhivotovsky B; Sejersen T; Kostareva A
Article: PLOS ONE. 2020;15(3):e0229227
Infantile restrictive cardiomyopathy: cTnI-R170G/W impair the interplay of sarcomeric proteins and the integrity of thin filaments
Cimiotti D; Fujita-Becker S; Moehner D; Smolina N; Budde H; Wies A; Morgenstern L; Gudkova A; Sejersen T; Sjoeberg G; Muegge A; Nowaczyk MM; Reusch P; Pfitzer G; Stehle R; Schroder RR; Mannherz HG; Kostareva A; Jaquet K
Article: MUSCLE & NERVE. 2020;61(3):363-368
Improvements in health status and utility associated with ataluren for the treatment of nonsense mutation Duchenne muscular dystrophy
Landfeldt E; Lindberg C; Sejersen T
Article: CARDIOLOGY. 2020;145(11):746-756
Genetic Spectrum of Left Ventricular Non-Compaction in Paediatric Patients
Vershinina T; Fomicheva Y; Muravyev A; Jorholt J; Kozyreva A; Kiselev A; Gordeev M; Vasichkina E; Segrushichev A; Pervunina T; Sjoberg G; Skyttner-Rahmani S; Sejersen T; Kostareva A
Article: MUSCLE & NERVE. 2020;61(1):26-35
Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta-analysis of disease progression rates in recent multicenter clinical trials.
McDonald CM; Sajeev G; Yao Z; McDonnell E; Elfring G; Souza M; Peltz SW; Darras BT; Shieh PB; Cox DA; Landry J; Signorovitch J; ACT DMD Study Group and the Tadalafil DMD Study Gr
Article: JOURNAL OF PHARMACOKINETICS AND PHARMACODYNAMICS. 2019;46(5):441-455
Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy.
Conrado DJ; Larkindale J; Berg A; Hill M; Burton J; Abrams KR; Abresch RT; Bronson A; Chapman D; Crowther M; Duong T; Gordish-Dressman H; Harnisch L; Henricson E; Kim S; McDonald CM; Schmidt S; Vong C; Wang X; Wong BL; Yong F; Romero K; Duchenne Muscular Dystrophy Regulatory Science Con
Article: FRONTIERS IN GENETICS. 2019;10:608
Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy
Kiselev A; Vaz R; Knyazeva A; Sergushichev A; Dmitrieva R; Khudiakov A; Jorholt J; Smolina N; Sukhareva K; Fomicheva Y; Mikhaylov E; Mitrofanova L; Predeusu A; Sjoberg G; Rudenko D; Sejersen T; Lindstrand A; Kostareva A
Article: NATURE COMMUNICATIONS. 2019;10(1):1396
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
Olive M; Engvall M; Ravenscroft G; Cabrera-Serrano M; Jiao H; Bortolotti CA; Pignataro M; Lambrughi M; Jiang H; Forrest ARR; Benseny-Cases N; Hofbauer S; Obinger C; Battistuzzi G; Bellei M; Borsari M; Di Rocco G; Viola HM; Hoo LC; Cladera J; Lagerstedt-Robinson K; Xiang F; Wredenberg A; Miralles F; Jose Baiges J; Malfatti E; Romero NB; Streichenberger N; Via C; Claeys KG; Straathof CSM; Goris A; Freyer C; Lammens M; Bassez G; Kere J; Clemente P; Sejersen T; Udd B; Vidal N; Ferrer I; Edstrom L; Wedell A; Laing NG
Article: JOURNAL OF CHILD NEUROLOGY. 2019;34(4):210-215
Parents' Experiences of Information and Decision Making in the Care of Their Child With Severe Spinal Muscular Atrophy: A Population Survey
Beernaert K; Lovgren M; Jeppesen J; Werlauff U; Rahbek J; Sejersen T; Kreicbergs U
Article: JOURNAL OF CHILD NEUROLOGY. 2019;34(2):104-112
Bereaved Parents More Satisfied With the Care Given to Their Child With Severe Spinal Muscular Atrophy Than Nonbereaved
Hjorth E; Kreicbergs U; Sejersen T; Jeppesen J; Werlauff U; Rahbek J; Lovgren M
Article: FRONTIERS IN GENETICS. 2019;9:684
Time- and Ventricular-Specific Expression Profiles of Genes Encoding Z-Disk Proteins in Pressure Overload Model of Left Ventricular Hypertrophy
Knyazeva A; Krutikov A; Golovkin A; Mishanin A; Pavlov G; Smolina N; Hushkina A; Sejersen T; Sjoberg G; Galagudza M; Kostareva A
Article: NEUROLOGY. 2018;91(13):e1215-e1219
The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy.
Thangarajh M; Elfring GL; Trifillis P; McIntosh J; Peltz SW; Ataluren Phase 2b Study Group
Article: HUMAN MUTATION. 2018;39(9):1161-1172
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy
Kiselev A; Vaz R; Knyazeva A; Khudiakov A; Tarnovskaya S; Liu J; Sergushichev A; Kazakov S; Frishman D; Smolina N; Pervunina T; Jorholt J; Sjoberg G; Vershinina T; Rudenko D; Arner A; Sejersen T; Lindstrand A; Kostareva A
Article: NEUROMUSCULAR DISORDERS. 2018;28(3):197-207
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics
Finkel RS; Mercuri E; Meyer OH; Simonds AK; Schroth MK; Graham RJ; Kirschner J; Iannaccone ST; Crawford TO; Woods S; Muntoni F; Wirth B; Montes J; Main M; Mazzone ES; Vitale M; Snyder B; Quijano-Roy S; Bertini E; Davis RH; Qian Y; Sejersen T
Article: NEUROMUSCULAR DISORDERS. 2018;28(2):103-115
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
Mercuri E; Finkel RS; Muntoni F; Wirth B; Montes J; Main M; Mazzone ES; Vitale M; Snyder B; Quijano-Roy S; Bertini E; Davis RH; Meyer OH; Simonds AK; Schroth MK; Graham RJ; Kirschner J; Iannaccone ST; Crawford TO; Woods S; Qian Y; Sejersen T
Article: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2018;22(1):128-134
Parents' advice to healthcare professionals working with children who have spinal muscular atrophy
Hjorth E; Kreicbergs U; Sejersen T; Lovgren M
Article: BRAIN. 2017;140(11):2838-2850
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Wang H; Salter CG; Refai O; Hardy H; Barwick KES; Akpulat U; Kvarnung M; Chioza BA; Harlalka G; Taylan F; Sejersen T; Wright J; Zimmerman HH; Karakaya M; Stueve B; Weis J; Schara U; Russell MA; Abdul-Rahman OA; Chilton J; Blakely RD; Baple EL; Cirak S; Crosby AH
Article: LANCET. 2017;390(10101):1489-1498
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
McDonald CM; Campbell C; Erazo Torricelli R; Finkel RS; Flanigan KM; Goemans N; Heydemann P; Kaminska A; Kirschner J; Muntoni F; Nascimento Osorio A; Schara U; Sejersen T; Shieh PB; Sweeney HL; Topaloglu H; Tulinius M; Vilchez JJ; Voit T; Wong B; Elfring G; Kroger H; Luo X; McIntosh J; Ong T; Riebling P; Souza M; Spiegel RJ; Peltz SW; Mercuri E
Journal article: EUROPEAN HEART JOURNAL. 2017;38(suppl_1):ehx502.p1606
P1606Mutation in MYOF gene is associated with ventricular arrhythmias and limb girdle muscle phenotype
Kiselev A; Dmitrieva R; Smolina N; Khudiakov A; Sergushichev A; Mikhailov E; Mitrophanova L; Rudenko D; Jornholt J; Sjoberg G; Sejersen T; Kostareva A
Journal article: EUROPEAN HEART JOURNAL. 2017;38(suppl_1):ehx493.p5404
P5404Hotspot mutation in FLNC gene as a cause of restrictive cardiomyopathy associated with congenital myopathy development
Kiselev A; Knyazeva A; Sergushichev A; Hudiakov A; Pervunina T; Vershinina T; Nikitina I; Rudenko D; Vasichkina E; Jornholt J; Sjoberg G; Sejersen T; Kostareva A
Article: NEUROMUSCULAR DISORDERS. 2017;27(6):596-605
218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016
Finkel RS; Sejersen T; Mercuri E
Article: NEUROMUSCULAR DISORDERS. 2017;27(4):307-314
Characterization of pulmonary function in 10-18 year old patients with Duchenne muscular dystrophy.
Meier T; Rummey C; Leinonen M; Spagnolo P; Mayer OH; Buyse GM; DELOS Study Group
Article: METHODS IN MOLECULAR BIOLOGY. 2017;1601:79-87
Assaying Mitochondrial Respiration as an Indicator of Cellular Metabolism and Fitness.
Smolina N; Bruton J; Kostareva A; Sejersen T
Article: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2016;20(6):830-838
Information and treatment decisions in severe spinal muscular atrophy: A parental follow-up
Lovgren M; Sejersen T; Kreicbergs U
Article: PLOS ONE. 2016;11(9):e0163362
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing
Kostareva A; Kiselev A; Gudkova A; Frishman G; Ruepp A; Frishman D; Smolina N; Tarnovskaya S; Nilsson D; Zlotina A; Khodyuchenko T; Vershinina T; Pervunina T; Klyushina A; Kozlenok A; Sjoberg G; Golovljova I; Sejersen T; Shlyakhto E
Journal article: BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS. 2016;1857:e32
Aggregate-prone desmin mutations confine mitochondrial metabolism
Smolina N; Khudiakov A; Gogvadze V; Kostareva A; Sejersen T
Article: JOURNAL OF PEDIATRICS. 2016;175:201-205
Parents' Experiences and Wishes at End of Life in Children with Spinal Muscular Atrophy Types I and II
Lovgren M; Sejersen T; Kreicbergs U
Article: NEUROMUSCULAR DISORDERS. 2016;26(8):473-480
Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy
McDonald CM; Meier T; Voit T; Schara U; Straathof CSM; D'Angelo MG; Bernert G; Cuisset J-M; Finkel RS; Goemans N; Rummey C; Leinonen M; Spagnolo P; Buyse GM
Journal article: JOURNAL OF EXPERIMENTAL MEDICINE. 2016;213(5):2135oia36
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
Journal article: JOURNAL OF CELL BIOLOGY. 2016;213(2):2132oia87
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
Article: JOURNAL OF GENERAL PHYSIOLOGY. 2016;147(4):309-322
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
Article: MUSCLE & NERVE. 2016;53(4):503-507
A PROTOCOL TO DEVELOP CLINICAL GUIDELINES FOR INCLUSION-BODY MYOSITIS
Jones KL; Sejersen T; Amato AA; Hilton-Jones D; Schmidt J; Wallace AC; Badrising UA; Rose MR
Journal article: KARDIOLOGIYA. 2016;17(4):278-286
Genetic variants of cardiomyopathies with the neuromuscular phenotype
Kostareva AA; Pervunina TM; Moiseeva OM; Vershinina TL; Gudkova AY; Romanova EI; Kozlova SN; Rudenko DI; Sejersen T; Sjoberg G; Shlyakhto EV
Article: NEUROMUSCULAR DISORDERS. 2015;25(7):593-602
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
Article: MOLECULAR GENETICS AND METABOLISM. 2015;115(2-3):118-127
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; Fedorov A; Dmitrieva R; Sjoberg G; Sejersen T; Kostareva A
Article: LANCET. 2015;385(9979):1748-1757
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 CSM; D'Angelo MG; Bernert G; Cuisset J-M; Finkel RS; Goemans N; McDonald CM; Rummey C; Meier T
Journal article: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2015;19:s65
PP09.3 – 2846: Parents' perspective on the care of their child with severe form of spinal muscular atrophy: A 10-year nationwide follow-up
Sejersen T; Lövgren M; Hjorth E; Renlund C; Kreicbergs U
Article: BIOMED RESEARCH INTERNATIONAL. 2015;2015:594751-12
Primary Murine Myotubes as a Model for Investigating Muscular Dystrophy
Smolina N; Kostareva A; Bruton J; Karpushev A; Sjoberg G; Sejersen T
Article: CELL CALCIUM. 2014;56(4):269-275
Aggregate-prone desmin mutations impair mitochondrial calcium uptake in primary myotubes
Smolina N; Bruton J; Sjoberg G; Kostareva A; Sejersen T
Article: MUSCLE & NERVE. 2014;50(4):477-487
ATALUREN TREATMENT OF PATIENTS WITH NONSENSE MUTATION DYSTROPHINOPATHY
Bushby K; Finkel R; Wong B; Barohn R; Campbell C; Comi GP; Connolly AM; Day JW; Flanigan KM; Goemans N; Jones KJ; Mercuri E; Quinlivan R; Renfroe JB; Russman B; Ryan MM; Tulinius M; Voit T; Moore SA; Sweeney HL; Abresch RT; Coleman KL; Eagle M; Florence J; Gappmaier E; Glanzman AM; Henricson E; Barth J; Elfring GL; Reha A; Spiegel RJ; O'Donnell MW; Peltz SW; McDonald CM
Article: NEUROMUSCULAR DISORDERS. 2014;24(4):289-311
Diagnostic approach to the congenital muscular dystrophies
Boennemann CG; Wang CH; Quijano-Roy S; Deconinck N; Bertini E; Ferreiro A; Muntoni F; Sewry C; Beroud C; Mathews KD; Moore SA; Bellini J; Rutkowski A; North KN
Article: FASEB JOURNAL. 2014;28(4):1593-1599
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
Article: NEUROMUSCULAR DISORDERS. 2014;24(2):97-116
Approach to the diagnosis of congenital myopathies
North KN; Wang CH; Clarke N; Jungbluth H; Vainzof M; Dowling JJ; Amburgey K; Quijano-Roy S; Beggs AH; Sewry C; Laing NG; Boennemann CG
Journal article: ORPHANET JOURNAL OF RARE DISEASES. 2014;9(Suppl 1):o14
RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases
Taruscio D; Morciano C; Laricchiuta P; Mincarone P; Palazzo F; Leo C; Sabina S; Guarino R; Auld J; Sejersen T; Gavhed D; Ritchie K; Hilton-Boon M; Manson J; Kanavos P; Tordrup D; Tzouma V; Le Cam Y; Senecat J; Filippini G; Minozzi S; Del Giovane C; Schünemann H; Meerpohl J; Prediger B; Schell L; Stefanov R; Iskrov G; Miteva-Katrandzhieva T; Serrano-Aguilar P; Perestelo-Perez L; Trujillo-Martín M; Pérez-Ramos J; Rivero-Santana A; Brand A; van Kranen H; Bushby K; Atalaia A; Ramet J; Siderius L; Posada M; Abaitua-Borda I; Ferreira VA; Hens-Pérez M; Manzanares F
Article: JOURNAL OF NEUROLOGY. 2014;261(1):152-163
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; Pisano P; Walter MC; Schreiber O; Lusakowska A; Jedrzejowska M; Kostera-Pruszczyk A; van der Pol L; Wadman RI; Gredal O; Karaduman A; Topaloglu H; Yilmaz O; Matyushenko V; Rasic VM; Kosac A; Karcagi V; Garami M; Herczegfalvi A; Monges S; Moresco A; Chertkoff L; Chamova T; Guergueltcheva V; Butoianu N; Craiu D; Korngut L; Campbell C; Haberlova J; Strenkova J; Alejandro M; Jimenez A; Gabriel Ortiz G; Gonzalez Enriquez GV; Rodrigues M; Roxburgh R; Dawkins H; Youngs L; Lahdetie J; Angelkova N; Saugier-Veber P; Cuisset J-M; Bloetzer C; Jeannet P-Y; Klein A; Nascimento A; Tizzano E; Salgado D; Mercuri E; Sejersen T; Kirschner J; Rafferty K; Straub V; Bushby K; Verschuuren J; Beroud C; Lochmueller H
Article: NEUROMUSCULAR DISORDERS. 2013;23(12):1044-1055
188th ENMC International Workshop: Inclusion Body Myositis, 2-4 December 2011, Naarden, The Netherlands
Rose MR
Article: MUSCLE & NERVE. 2013;48(3):343-356
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; Glanzman AM; Spiegel R; Barth J; Elfring G; Reha A; Peltz S
Article: MUSCLE & NERVE. 2013;48(3):357-368
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; Glanzman AM; Spiegel R; Barth J; Elfring G; Reha A; Peltz SW
Journal article: BMJ QUALITY & SAFETY. 2013;22(Suppl 1):57
P119 The Rare-Best practices Project: An Overview
Taruscio D; Morciano C; Laricchiuta P; Vincenti G; Agresta L; Mincarone P; Palazzo F; Leo C; Sabina S; Guarino R; Auld J; Sejersen T
Journal article: JOURNAL OF CELL BIOLOGY. 2013;200(5):i12
Knockdown of desmin in zebrafish larvae affects interfilament spacing and mechanical properties of skeletal muscle
Li M; Andersson-Lendahl M; Sejersen T; Arner A
Article: JOURNAL OF GENERAL PHYSIOLOGY. 2013;141(3):335-345
Knockdown of desmin in zebrafish larvae affects interfilament spacing and mechanical properties of skeletal muscle
Li M; Andersson-Lendahl M; Sejersen T; Arner A
Article: PEDIATRIC CARDIOLOGY. 2013;34(2):467-470
Diagnostic Challenge in Desmin Cardiomyopathy With Transformation of Clinical Phenotypes
Gudkova A; Kostareva A; Sjoberg G; Smolina N; Turalchuk M; Kuznetsova I; Rybakova M; Edstrom L; Shlyakhto E; Sejersen T
Article: PLOS CURRENTS. 2013;5:ecurrents.md.f90b49429fa8
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; Irwin J; Kirschner J; Moeschen P; Muntoni F; Ouillade M-C; Rahbek J; Rehmann-Sutter C; Rouault F; Sejersen T; Vroom E; Straub V; Bushby K; Ferlini A
Article: JOURNAL OF CHILD NEUROLOGY. 2012;27(3):363-382
Consensus Statement on Standard of Care for Congenital Myopathies
Wang CH; Dowling JJ; North K; Schroth MK; Sejersen T; Shapiro F; Bellini J; Weiss H; Guillet M; Amburgey K; Apkon S; Bertini E; Bonnemann C; Clarke N; Connolly AM; Estournet-Mathiaud B; Fitzgerald D; Florence JM; Gee R; Gurgel-Giannetti J; Glanzman AM; Hofmeister B; Jungbluth H; Koumbourlis AC; Laing NG; Main M; Morrison LA; Munns C; Rose K; Schuler PM; Sewry C; Storhaug K; Vainzof M; Yuan N
Article: ACTA MYOLOGICA. 2011;30(1):42-45
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; Sejersen T
Article: JOURNAL OF CHILD NEUROLOGY. 2010;25(12):1559-1581
Consensus Statement on Standard of Care for Congenital Muscular Dystrophies
Wang CH; Bonnemann CG; Rutkowski A; Sejersen T; Bellini J; Battista V; Florence JM; Schara U; Schuler PM; Wahbi K; Aloysius A; Bash RO; Beroud C; Bertini E; Bushby K; Cohn RD; Connolly AM; Deconinck N; Desguerre I; Eagle M; Estournet-Mathiaud B; Ferreiro A; Fujak A; Goemans N; Iannaccone ST; Jouinot P; Main M; Melacini P; Mueller-Felber W; Muntoni F; Nelson LL; Rahbek J; Quijano-Roy S; Sewry C; Storhaug K; Simonds A; Tseng B; Vajsar J; Vianello A; Zeller R
Article: ACTA MYOLOGICA. 2009;28(3):91-93
Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation.
Mejaddam AY; Nennesmo I; Sejersen T
Article: MEDIZINISCHE GENETIK. 2009;21(3):375-380
Treat-NMD - An European network for neuromuscular diseases
Baumeister S; Scholz C; Straub V; Mueller-Reible C; Sejersen T; Lochmueller H; Korinthenberg R; Vorgerd M; Walter M
Article: JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY. 2008;29(1):25-36
Mice expressing L345P mutant desmin exhibit morphological and functional changes of skeletal and cardiac mitochondria
Kostareva A; Sjoberg G; Bruton J; Zhang S-J; Balogh J; Gudkova A; Hedberg B; Edstrom L; Westerblad H; Sejersen T
Article: NEUROREHABILITATION. 2007;22(2):109-116
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
Article: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY. 2007;49(3):204-209
Long-term follow-up of children with obstetric brachial plexus palsy II:: neurophysiological aspects
Strombeck C; Remahl S; Krumlinde-Sundholm L; Sejersen T
Article: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY. 2007;49(3):198-203
Long-term follow-up of children with obstetric brachial plexus palsy I:: functional aspects
Strombeck C; Krumlinde-Sundholm L; Remahl S; Sejersen T
Article: ACTA MYOLOGICA. 2006;25(3):109-115
Desmin mutations in a St. Petersburg cohort of cardiomyopathies.
Kostareva A; Gudkova A; Sjoberg G; Kiselev I; Moiseeva O; Karelkina E; Goldfarb L; Schlyakhto E; Sejersen T
Article: HUMAN MUTATION. 2006;27(9):906-913
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; Laforet P; Ferrer X; Chapon F; Sjoberg G; Kostareva A; Sejersen T; Dalakas MC; Goldfarb LG; Vicart P
Article: EXPERIMENTAL CELL RESEARCH. 2006;312(9):1554-1565
Forced expression of desmin and desmin mutants in cultured cells:: Impact of myopathic missense mutations in the central coiled-coil domain on network formation
Baer H; Kostareva A; Sjoeberg G; Sejersen T; Katus HA; Herrmann H
Article: BRAIN INJURY. 2005;19(7):511-518
Beneficial effect from a cognitive training programme on children with acquired brain injuries demonstrated in a controlled study
Van't Hooft I; Andersson K; Bergman B
Article: SCIENCE. 2005;308(5728):1599-1603
The kinase domain of titin controls muscle gene expression and protein turnover
Lange S; Xiang FQ; Yakovenko A; Vihola A; Hackman P; Rostkova E; Kristensen J; Brandmeier B; Franzen G; Hedberg B; Gunnarsson LG; Hughes SM; Marchand S; Sejersen T; Richard I; Edström L; Ehler E; Udd B; Gautel M
Journal article: EUROPEAN JOURNAL OF HEART FAILURE, SUPPLEMENT. 2005;4(1):25
107 Desmin mutations in patients with cardiomyopathies
Kostareva A; Sjoberg G; Gudkova A; Kiselev I; Schlyakhto E; Sejersen T
Article: ACTA PAEDIATRICA. 2003;92(8):935-940
Attention and memory training in children with acquired brain injuries
van't Hooft I; Andersson K; Sejersen T; Bartfai A; von Wendt L
Journal article: EUROPEAN JOURNAL OF HEART FAILURE, SUPPLEMENT. 2003;2(1):15-16
113 Morphological features of cardiomyopathy in L345P desmin transgenic mice
Kostareva A; Sjoberg G; Amineva KH; Gudkova A; Sejersen T; Shlyakhto E
Article: ACTA NEUROPATHOLOGICA. 2002;104(5):493-504
Cytoskeletal derangements in hereditary myopathy with a desmin L345P mutation
Carlsson L; Fischer C; Sjöberg G; Robson RM; Sejersen T; Thornell LE
Article: EXPERIMENTAL LUNG RESEARCH. 2001;27(6):469-484
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; Mattsson E
Article: HUMAN MOLECULAR GENETICS. 1999;8(12):2191-2198
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation
Sjöberg G; Saavedra-Matiz CA; Rosen DR; Wijsman EM; Borg K; Horowitz SH; Sejersen T
Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 1999;274(36):25735-25742
cDNA cloning and chromosomal localization of human α₁₁ integrin -: A collagen-binding, I domain-containing, β_1-associated integrin α-chain present in muscle tissues
Velling T; Kusche-Gullberg M; Sejersen T; Gullberg D
Article: PEDIATRIC RESEARCH. 1998;43(3):386-392
Pediatric rhabdomyosarcomas express the intermediate filament nestin
Kobayashi M; Sjöberg G; Söderhäll S; Lendahl U; Sandstedt B; Sejersen T
Article: DIFFERENTIATION. 1997;61(3):151-159
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
Article: NEUROMUSCULAR DISORDERS. 1997;7(1):39-54
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; Edstrom L; Sejersen T
Article: LAKARTIDNINGEN. 1996;93(17):1637-1638
[Children with poliomyelitis in Sweden 1996].
Borg K; Sejersen T; Stålberg E; Wessgren A
Article: EXPERIMENTAL CELL RESEARCH. 1995;220(1):112-123
ANALYSIS OF FIBRONECTIN AND VITRONECTIN RECEPTORS ON HUMAN FETAL SKELETAL-MUSCLE CELLS UPON DIFFERENTIATION
GULLBERG D; SJOBERG G; VELLING T; SEJERSEN T
Article: DEVELOPMENTAL DYNAMICS. 1995;204(1):57-65
UP-REGULATION OF A NOVEL INTEGRIN ALPHA-CHAIN (ALPHA(MT)) ON HUMAN FETAL MYOTUBES
GULLBERG D; VELLING T; SJOBERG G; SEJERSEN T
Journal article: EXPERIMENTAL CELL RESEARCH. 1994;214(2):447-458
COLOCALIZATION OF NESTIN AND VIMENTIN/DESMIN IN SKELETAL-MUSCLE CELLS DEMONSTRATED BY 3-DIMENSIONAL FLUORESCENCE DIGITAL IMAGING MICROSCOPY
SJOBERG G; JIANG WQ; RINGERTZ NR; LENDAHL U; SEJERSEN T
Journal article: JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY. 1994;53(4):416-423
MYOFIBERS FROM DUCHENNE/BECKER MUSCULAR-DYSTROPHY AND MYOSITIS EXPRESS THE INTERMEDIATE FILAMENT NESTIN
SJOBERG G; EDSTROM L; LENDAHL U; SEJERSEN T
Journal article: JOURNAL OF CELL SCIENCE. 1993;106:1291-1300
TRANSIENT EXPRESSION OF THE INTERMEDIATE FILAMENT NESTIN DURING SKELETAL-MUSCLE DEVELOPMENT
SEJERSEN T; LENDAHL U
Journal article: DIFFERENTIATION. 1993;54(3):47-54
Proliferation and differentiation of human fetal myoblasts is regulated by PDGF-BB
Jin P; Farmer K; Ringertz NR; Sejersen T
Journal article: DIFFERENTIATION. 1993;54(1):47-54
PROLIFERATION AND DIFFERENTIATION OF HUMAN FETAL MYOBLASTS IS REGULATED BY PDGF-BB
JIN P; FARMER K; RINGERTZ NR; SEJERSEN T
Journal article: PEDIATRIC RESEARCH. 1991;29(3):263-267
SERUM FACTORS INDUCE C-FOS EXPRESSION AND RAPID CELL-PROLIFERATION IN ADOLESCENT BUT NOT IN INFANT RAT PROXIMAL TUBULE CELLS
LARSSON SH; HULTGARDHNILSSON A; KOLARE S; LUTHMAN J; SEJERSEN T; APERIA A
Journal article: JOURNAL OF BIOLOGICAL CHEMISTRY. 1991;266(2):1245-1249
RECOMBINANT PLATELET-DERIVED GROWTH FACTOR-BB STIMULATES GROWTH AND INHIBITS DIFFERENTIATION OF RAT L6 MYOBLASTS
JIN P; SEJERSEN T; RINGERTZ NR
Journal article: FEBS JOURNAL. 1990;194(2):527-532
NEUROKININ-A INDUCES EXPRESSION OF THE C-FOS, C-JUN, AND C-MYC GENES IN RAT SMOOTH-MUSCLE CELLS
HULTGARDHNILSSON A; LARSSON SH; JIN P; SEJERSEN T; RINGERTZ NR
Journal article: CELL BIOLOGY INTERNATIONAL. 1990;14:96
Neurokinin a induces increase in pHi and elevated expression of c-fos in rat aortic smooth muscle cells
Hultgârdh-Nilsson A; Larsson S; Östlund E; Jin P; Sejersen T
Journal article: JOURNAL OF CELLULAR PHYSIOLOGY. 1990;143(3):475-482
INTRACELLULAR-DISTRIBUTION OF THE C-FOS ANTIGEN DURING THE CELL-CYCLE
RAHM M; HULTGARDHNILSSON A; JIANG WQ; SEJERSEN T; RINGERTZ NR
Journal article: JOURNAL OF CELL BIOLOGY. 1990;110(5):1665-1672
EXPRESSION OF PDGF A-CHAIN AND BETA-RECEPTOR GENES DURING RAT MYOBLAST DIFFERENTIATION
JIN P; RAHM M; CLAESSONWELSH L; HELDIN CH; SEJERSEN T
Journal article: JOURNAL OF CELLULAR PHYSIOLOGY. 1990;142(2):352-358
C-FOS REDUCES GROWTH-FACTOR REQUIREMENTS FOR MITOGENIC STIMULATION OF L6 RAT MYOBLASTS
RAHM M; SEJERSEN T
Journal article: GROWTH FACTORS. 1990;3(3):191-203
Expression of PDGF α- and β-receptors in Rat Arterial Smooth Muscle Cells is Phenotype and Growth State Dependent
Sjolund M; Rahm M; Claesson-Welsh L; Sejersen T; Heldin C-H; Thyberg J
Journal article: JOURNAL OF CELLULAR PHYSIOLOGY. 1989;139(2):237-244
ELEVATED C-FOS EXPRESSION INHIBITS DIFFERENTIATION OF L6 RAT MYOBLASTS
RAHM M; JIN P; SUMEGI J; SEJERSEN T
Journal article: ENVIRONMENTAL HEALTH PERSPECTIVES. 1989;80:247-256
CHANGES IN C-ONC EXPRESSION DURING EMBRYONAL CARCINOMA CELL-DIFFERENTIATION
SEJERSEN T; JIN P; RAHM M; RINGERTZ NR
Journal article: ONCOGENE. 1988;3(6):679-685
CHROMOSOME LOCALIZATION AND EXPRESSION PATTERN OF LMYC AND BMYC IN MURINE EMBRYONAL CARCINOMA-CELLS
INGVARSSON S; SUNDARESAN S; JIN P; FRANCKE U; ASKER C; SUMEGI J; KLEIN G; SEJERSEN T
Journal article: JOURNAL OF CELL BIOLOGY. 1988;106(2):403-413
ARTERIAL SMOOTH-MUSCLE CELLS EXPRESS PLATELET-DERIVED GROWTH-FACTOR (PDGF) A CHAIN MESSENGER-RNA, SECRETE A PDGF-LIKE MITOGEN, AND BIND EXOGENOUS PDGF IN A PHENOTYPE AND GROWTH STATE-DEPENDENT MANNER
SJOLUND M; HEDIN U; SEJERSEN T; HELDIN CH; THYBERG J
Journal article: EXPERIMENTAL CELL RESEARCH. 1987;172(2):304-317
SIMILARITIES AND DIFFERENCES IN THE REGULATION OF N-MYC AND C-MYC GENES IN MURINE EMBRYONAL CARCINOMA-CELLS
SEJERSEN T; RAHM M; SZABO G; INGVARSSON S; SUMEGI J
Journal article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 1986;83(18):6844-6848
RAT SKELETAL MYOBLASTS AND ARTERIAL SMOOTH-MUSCLE CELLS EXPRESS THE GENE FOR THE A-CHAIN BUT NOT THE GENE FOR THE B-CHAIN (C-SIS) OF PLATELET-DERIVED GROWTH-FACTOR (PDGF) AND PRODUCE A PDGF-LIKE PROTEIN
SEJERSEN T; BETSHOLTZ C; SJOLUND M; HELDIN CH; WESTERMARK B; THYBERG J
Journal article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 1986;137(1):167-174
DNA-SYNTHESIS INDUCED BY THE NEUROPEPTIDE SUBSTANCE-K CORRELATES TO THE LEVEL OF MYC-GENE TRANSCRIPTS
NILSSON J; SEJERSEN T; NILSSON AH; DALSGAARD CJ
Journal article: JOURNAL OF CELLULAR PHYSIOLOGY. 1986;127(2):274-280
N-MYC AND C-SRC GENES ARE DIFFERENTIALLY REGULATED IN PCC7 EMBRYONAL CARCINOMA-CELLS UNDERGOING NEURONAL DIFFERENTIATION
SEJERSEN T; BJORKLUND H; SUMEGI J; RINGERTZ NR
Journal article: NANOPARTICLES FOR RATIONAL VACCINE DESIGN. 1986;132:297-304
DIFFERENTIAL EXPRESSION OF N-MYC, C-MYC AND C-SRC PROTOONCOGENES DURING THE COURSE OF INDUCED-DIFFERENTIATION OF MURINE EMBRYONAL CARCINOMA-CELLS
SUMEGI J; SEJERSEN T; BJORKLUND H; KLEIN G; RINGERTZ NR
Journal article: JOURNAL OF CELLULAR PHYSIOLOGY. 1985;125(3):465-470
DENSITY-DEPENDENT ARREST OF DNA-REPLICATION IS ACCOMPANIED BY DECREASED LEVELS OF C-MYC MESSENGER-RNA IN MYOGENIC BUT NOT IN DIFFERENTIATION-DEFECTIVE MYOBLASTS
SEJERSEN T; SUMEGI J; RINGERTZ NR
Journal article: EXPERIMENTAL CELL RESEARCH. 1985;160(1):19-30
EXPRESSION OF CELLULAR ONCOGENES IN TERATOMA-DERIVED CELL-LINES
SEJERSEN T; SUMEGI J; RINGERTZ NR
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:523-524
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with neuromuscular disorders
Ek M; Nilsson D; Engvall M; Malmgren H; Thonberg H; Pettersson M; Anderlid B-M; Hammarsjo A; Helgadottir H; Arnardottir S; Naess K; Nennesemo I; Paucar M; Hjartarson HT; Press R; Solders G; Sejersen T; Lindstrand A; Kvarnung M
Editorial comment: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2024;48:a2
Editorial commentary on "myotonic dystrophy type 1 (Steinert disease): 29 years of experience at a tertiary pediatric hospital "
Sejersen T
Review: DRUG DESIGN DEVELOPMENT AND THERAPY. 2023;16:1865-1883
Disease Modifying Therapies for the Management of Children with Spinal Muscular Atrophy (5q SMA): An Update on the Emerging Evidence
Hjartarson HT; Nathorst-Boos K; Sejersen T
Review: PHARMACOECONOMICS. 2023;41(3):275-293
Caregiver Burden of Spinal Muscular Atrophy: A Systematic Review
Landfeldt E; Abner S; Pechmann A; Sejersen T; McMillan HJ; Lochmueller H; Kirschner J
Conference publication: VALUE IN HEALTH. 2022;25(12):S119
PRODUCTIVITY LOSSES ASSOCIATED WITH SPINAL MUSCULAR ATROPHY (SMA) IN ADULT PATIENTS IN SWEDEN NOT TREATED WITH DISEASE MODIFYING THERAPIES: A POPULATION-BASED STUDY
Simpson A; Gertow K; Sejersen T; Ekstrom AB; Kroksman AK; Graham S; Justo N; Kwiatkowska M; Ganz M; Virtanen O; Ramagopalan S
Review: APPLIED HEALTH ECONOMICS AND HEALTH POLICY. 2021;19(4):501-520
Costs of Illness of Spinal Muscular Atrophy: A Systematic Review
Landfeldt E; Pechmann A; McMillan HJ; Lochmueller H; Sejersen T
Letter: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2021;30:103-104
Response to letter: A decision for life - Treatment decisions in newly diagnosed families with spinal muscular atrophy
Kirschner J; Butoianu N; Goemans N; Haberlova J; Kostera-Pruszczyk A; Mercuri E; van der Pol WL; Quijano-Roy S; Sejersen T; Tizzano EF; Ziegler A; Servais L; Muntoni F
Book chapter: THE ETHICAL CHALLENGES OF EMERGING MEDICAL TECHNOLOGIES. 2020;p. 259-275
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; Irwin J; Kirschner J; Moeschen P; Muntoni F; Ouillade M-C; Rahbek J; Rehmann-Sutter C; Rouault F; Sejersen T; Vroom E; Straub V; Bushby K; Ferlini A
Review: EUROPEAN JOURNAL OF EPIDEMIOLOGY. 2020;35(7):643-653
Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis
Landfeldt E; Thompson R; Sejersen T; McMillan HJ; Kirschner J; Lochmueller H
Review: PHARMACOECONOMICS. 2020;38(7):715-728
Economic Costs of Myasthenia Gravis: A Systematic Review
Landfeldt E; Pogoryelova O; Sejersen T; Zethraeus N; Breiner A; Lochmueller H
Review: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. 2019;23(3):347-356
Quality of life of patients with spinal muscular atrophy: A systematic review
Landfeldt E; Edstrom J; Sejersen T; Tulinius M; Lochmueller H; Kirschner J
Review: ACTA PAEDIATRICA. 2019;108(2):224-230
A mini-review and implementation model for using ataluren to treat nonsense mutation Duchenne muscular dystrophy
Landfeldt E; Sejersen T; Tulinius M
Review: JOURNAL OF PEDIATRICS. 2019;204:305-313.e14
Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy
Aartsma-Rus A; Hegde M; Ben-Omran T; Buccella F; Ferlini A; Gallano P; Howell RR; Leturcq F; Martin AS; Potulska-Chromik A; Saute JA; Schmidt WM; Sejersen T; Tuffery-Giraud S; Uyguner ZO; Witcomb LA; Yau S; Nelson SF
Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:677
Experiences from whole genome sequencing in diagnostics - broad in silico panels and introducing structural variant detection
Nilsson D; Robinson KL; Malmgren H; Karlsson M; Gustavsson P; Hammarsjo A; Grigelioniene G; Arce MP; Tham E; Pigg MH; Anderlid B; Nordgren A; Jorholt J; Kvarnung M; Sejersen T; Lieden A; Lundin J; Eisfeldt J; Lindstrand A; Wirta V; Nordenskjold M
Meeting abstract: CARDIOVASCULAR RESEARCH. 2018;114:S22
Desmin mutations impair mitochondrial function by promoting mtDNA release
Smolina N; Khudiakov A; Sjoberg G; Sejersen T; Kostareva A
Meeting abstract: CARDIOVASCULAR RESEARCH. 2018;114:S19
New variant in CMYA5 gene is associated with early-onset restrictive cardiomyopathy and autism-spectrum disorder
Kiselev A; Kornishina T; Sergushichev A; Smolina N; Klyushina A; Pervunina T; Bang ML; Sjoberg G; Sejersen T; Kostareva A
Meeting abstract: NEUROMUSCULAR DISORDERS. 2017;27:S220-S221
Recessively-acting choline transporter mutations associated with severe congenital myasthenia disrupt transporter surface trafficking in vitro and in vivo
Wang H; Salter S; Refai O; Hardy H; Sejersen T; Wright J; Zimmerman H; Weis J; Schara U; Russell M; Abdul-Rahman O; Chilton J; Blakely R; Baple E; Crosby A; Cirak S
Meeting abstract: NEUROMUSCULAR DISORDERS. 2017;27:S138
Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies
Dabaj I; Ben Yaou R; Bonnemann C; Nascimento A; Rutkowski A; Erazo Torricelli R; Muntoni F; Lagrue E; Dowling J; Bushby K; Casteglioni C; Kleinsteuber K; Lorenzo M; Ishiyama A; Sejersen T; Gurgel-Giannetti J; Monges S; Bonne G; Quijano-roy S
Conference publication: EUROPEAN HEART JOURNAL. 2017;38:1145
Hotspot mutation in FLNC gene as a cause of restrictive cardiomyopathy associated with congenital myopathy development
Kiselev A; Knyazeva A; Sergushichev A; Hudiakov A; Pervunina T; Vershinina T; Nikitina I; Rudenko D; Vasichkina E; Jornholt J; Sjoberg G; Sejersen T; Kostareva A
Conference publication: EUROPEAN HEART JOURNAL. 2017;38:344
Mutation in MYOF gene is associated with ventricular arrhythmias and limb girdle muscle phenotype
Kiselev A; Dmitrieva R; Smolina N; Khudiakov A; Sergushichev A; Mikhailov E; Mitrophanova L; Rudenko D; Jornholt J; Sjoberg G; Sejersen T; Kostareva A
Conference publication: HUMAN GENE THERAPY. 2016;27(11):A57
Vangl2 overexpression/silencing increases apoptosis and effects inflammation in C2C12 myoblast cells
Lindqvist M; Koho S; Lindholm D; Sejersen T
Letter: INTERNATIONAL JOURNAL OF CARDIOLOGY. 2016;216:188-189
Progressive cardiac conduction disease associated with a DSP gene mutation
Kiselev A; Mikhaylov E; Parmon E; Sjoberg G; Sejersen T; Tarnovskaya S; Nugnyi P; Mitrofanova L; Lebedev D; Kostareva A
Conference publication: CARDIOVASCULAR RESEARCH. 2016;111:S110
Desmin mutations depress mitochondrial metabolism
Smolina N; Gogvadze V; Sejersen T; Kostareva A
Conference publication: NEUROLOGY. 2016;86
Safety and Tolerability of Ataluren in a Phase 3 Study of Patients with Nonsense Mutation Duchenne Muscular Dystrophy
Campbell C; Shieh P; Sejersen T; Luo X; Elfring G; Kroger H; Riebling P; Ong T; Spiegel R; Peltz S; Wong B
Meeting abstract: NEUROMUSCULAR DISORDERS. 2015;25:S271
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; Mercuri E; Nishino I; North K; Alonso AP; Rahbek J; Sejersen T; Wood M; Lynn S; Robertson A; Lochmueller H; Straub V; Bushby K
Conference publication: EUROPEAN HEART JOURNAL. 2014;35:534
Genetic spectrum of idiopathic restrictive cardiomyopathy uncovered by NGS
Kostareva A; Gudkova A; Kiselev A; Zlotina A; Klyushina A; Hodyuchenko T; Smolina N; Sjoberg G; Sejersen T; Shlyakhto E
Conference publication: EUROPEAN HEART JOURNAL. 2014;35:109
Aggregate prone desmin mutations reduced mitochondrial calcium uptake in primary myotubes upon electrical stimulation
Kostareva A; Smolina N; Bruton J; Sjoberg G; Sejersen T
Meeting abstract: CARDIOVASCULAR RESEARCH. 2014;103:s104-s105
Genetic spectrum of idiopathic restrictive cardiomyopathy uncovered by new generation sequencing
Kostareva A; Gudkova A; Kiselev A; Zlotina A; Smolina N; Klyushina A; Hodyuchenko T; Sjoberg G; Sejersen T; Shlyakhto E
Meeting abstract: CARDIOVASCULAR RESEARCH. 2014;103:s73
Aggregate prone desmin mutations reduced mitochondrial calcium uptake in primary myotubes upon electrical stimulation
Smolina N; Bruton J; Sjoberg G; Kostareva A; Sejersen T
Book chapter: ACUTE PEDIATRIC NEUROLOGY. 2014;p. 271-286
Management of Acute Neuromuscular Disorders
Wang CH; Sejersen T
Book chapter: ACUTE PEDIATRIC NEUROLOGY. 2014;p. 53-74
Acute Disturbance of Motor Function
Sejersen T; Wang CH
Review: FRONTIERS IN BIOSCIENCE - SCHOLAR. 2013;5(1):325-340
Genetic spectrum of cardiomyopathies with neuromuscular phenotype.
Kostareva A; Sejersen T; Sjoberg G
Meeting abstract: NEUROMUSCULAR DISORDERS. 2012;22(9-10):872
Standards of care in neuromuscular disorders
Sejersen T
Conference publication: CARDIOVASCULAR RESEARCH. 2012;93:S14
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
Letter: NEUROMUSCULAR DISORDERS. 2011;21(7):527-528
Individual patient (n=1) "trials" in Duchenne dystrophy Response
Aartsma-Rus A; Furlong P; Vroom E; van Ommen G-J; Niks E; Straathof C; Verschuuren J; Hagger L; Heslop E; Karcagi V; Kirschner J; Ouillade M-C; Rahbeck J; Rehmann-Sutter C; Rouault F; Sejersen T; Vroom E; Woods S
Conference publication: EUROPEAN HEART JOURNAL. 2010;31:924-925
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; Sejersen T
Conference publication: CARDIOVASCULAR RESEARCH. 2010;87:S72
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; Sejersen T
Other: NEUROMUSCULAR DISORDERS. 2010;20(6):422-427
Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies.
Abbs S; Tuffery-Giraud S; Bakker E; Ferlini A; Sejersen T; Mueller CR
Review: LANCET NEUROLOGY. 2010;9(1):77-93
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management
Bushby K; Finkel R; Birnkrant DJ; Case LE; Clemens PR; Cripe L; Kaul A; Kinnett K; McDonald C; Pandya S; Poysky J; Shapiro F; Tomezsko J; Constantin C
Letter: INTERNATIONAL JOURNAL OF CARDIOLOGY. 2009;131(3):410-412
Deletion in TNNI3 gene is associated with restrictive cardiomyopathy
Kostareva A; Gudkova A; Sjoberg G; Morner S; Semernin E; Krutikov A; Shlyakhto E; Sejersen T
Published conference paper: CELL BIOLOGY AND TRANSLATIONAL MEDICINE, VOL 14: STEM CELLS IN LINEAGE SPECIFIC DIFFERENTIATION AND DISEASE. 2009;652:13-21
Standards of Care for Duchenne Muscular Dystrophy: Brief Treat-NMD Recommendations
Sejerson T; Bushby K
Meeting abstract: NEUROMUSCULAR DISORDERS. 2008;18(9-10):795-796
TREAT-NMD work on standards of diagnosis and care of NMDs
Sejersen TS
Conference publication: EUROPEAN JOURNAL OF CELL BIOLOGY. 2008;87(7):449-450
L345P desmin transgenic mice exhibit changes in mitochondrial Ca²⁺ handling
Kostareva A; Bruton J; Sjoberg G; Gudkova A; Westerblad H; Sejersen T
Conference publication: EUROPEAN HEART JOURNAL. 2007;28:795
L345P desmin transgenic mice exhibit changes in mitochondrial Ca²⁺ handling
Kostareva A; Bruton J; Sjoberg G; Gudkova A; Westerblad H; Sejersen T
Conference publication: EUROPEAN HEART JOURNAL. 2006;27:542
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; Schlyakhto E; Sejersen TH
Review: LAKARTIDNINGEN. 2005;102(11):845-853
[Hereditary cardiomyopathies: a review. Mutation of structural proteins a common cause of hereditary cardiomyopathy].
Sjöberg G; Kostareva A; Sejersen T
Conference publication: NEUROMUSCULAR DISORDERS. 2004;14(8-9):594
Morphological features of cardiomyopathy in L345P desmin transgenic mice
Kostareva A; Sjöberg G; Gudkova A; Zhang S; Westerblad H; Sejersen T
Conference publication: NEUROMUSCULAR DISORDERS. 2004;14(8-9):561
Intermediate filaments of muscle and related myopathies
Sejersen T
Conference publication: NEUROMUSCULAR DISORDERS. 2003;13(7-8):629
Functional analyses of L345P desmin mutation associated with familial myopathy and cardiomyopathy
Kostareva A; Sjöberg G; Gudkova A; Sejersen T
Meeting abstract: EUROPEAN HEART JOURNAL. 2003;24:695
Morphological features of cardiomyopathy in L345P desmin mutation
Kostareva A; Sjoberg G; Gudkova A; Rybakova M; Sejersen T; Shlyakhto E
Conference publication: MOLECULAR BIOLOGY OF THE CELL. 1997;8:2272
Nestin forms obligate heteropolymers with desmin and vimentin in vivo.
Sjoberg G; Meng JJ; Sejersen T; Ip W
Published conference paper: ANNALS OF THE NEW YORK ACADEMY OF SCIENCES. 1996;785:353-355
Nestin distribution in the developing limb bud in vivo and in vitro
Wroblewski J; Engstrom M; EdwallArvidsson C; Sjoberg G; Sejersen T; Lendahl U
Conference publication: JOURNAL OF CELLULAR BIOCHEMISTRY. 1994;:511
INTERMEDIATE FILAMENT NESTIN EXPRESSION DURING MYOGENESIS AND IN MUSCLE DISORDERS
SEJERSEN T; LENDAHL U; SJOBERG G; EDSTROM L
Book chapter: MOLECULAR BASIS OF HUMAN CANCER: NATO SCIENCE SERIES A:. 1991;p. 115-126
Expression of C-MYC, C-FOS and C-JUN Proto-Oncogenes During Muscle Differentiation in Vitro
Ringertz N; Rahm M; Hultgardh-Nilsson A; Jin P; Sejersen T
Conference publication: JOURNAL OF CELLULAR BIOCHEMISTRY. 1987;:41
MITOGENIC EFFECT OF SUBSTANCE-K CORRELATES TO MYC EXPRESSION
SEJERSEN T; NILSSON J; NILSSON AH; DALSGAARD CJ
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