Thomas Sejersen

Publications
Public outreach and news

Articles

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: 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: 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: 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: EUROPEAN JOURNAL OF HEALTH ECONOMICS. 2024;:1-14
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: 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: 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 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: 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 & 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: MUSCLE AND 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: 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 AND 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: 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;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: 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: FRONTIERS IN GENETICS. 2018;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: 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: THE 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: 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: 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
Journal article: JOURNAL OF EXPERIMENTAL MEDICINE (JEM). 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: MUSCLE AND 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
Article: THE 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: 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: 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: THE 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: MUSCLE AND 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: 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: 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: THE 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 AND 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
Article: MUSCLE AND 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
Journal article: BMJ QUALITY AND 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: THE 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, INTERNATIONAL JOURNAL OF PAEDIATRICS. 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: THE 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: CURRENT TOPICS IN MICROBIOLOGY AND IMMUNOLOGY. 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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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: PHARMACOECONOMICS (AUCKLAND). 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: DRUG DESIGN, DEVELOPMENT AND THERAPY. 2022;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: 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 (EJE). 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 (AUCKLAND). 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, INTERNATIONAL JOURNAL OF PAEDIATRICS. 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
Meeting abstract: CARDIOVASCULAR RESEARCH (CVR). 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: CARDIOVASCULAR RESEARCH (CVR). 2018;114:S22
Desmin mutations impair mitochondrial function by promoting mtDNA release
Smolina N; Khudiakov A; Sjoberg G; Sejersen T; Kostareva A
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: 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;38:344
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: 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
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: 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
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
Conference publication: CARDIOVASCULAR RESEARCH (CVR). 2016;111:S110
Desmin mutations depress mitochondrial metabolism
Smolina N; Gogvadze V; Sejersen T; Kostareva A
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
Meeting abstract: CARDIOVASCULAR RESEARCH (CVR). 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 (CVR). 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
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
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
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
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 (CVR). 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
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
Conference publication: CARDIOVASCULAR RESEARCH (CVR). 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
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
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: ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY. 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
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: 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
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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