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Items: 1 to 50 of 75

1.

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.

Hum Mutat. 2018 Jun 1. doi: 10.1002/humu.23559. [Epub ahead of print]

PMID:
29858533
2.

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; SMA Care group.

Neuromuscul Disord. 2018 Mar;28(3):197-207. doi: 10.1016/j.nmd.2017.11.004. Epub 2017 Nov 23.

3.

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; SMA Care Group.

Neuromuscul Disord. 2018 Feb;28(2):103-115. doi: 10.1016/j.nmd.2017.11.005. Epub 2017 Nov 23.

4.

Parents' advice to healthcare professionals working with children who have spinal muscular atrophy.

Hjorth E, Kreicbergs U, Sejersen T, Lövgren M.

Eur J Paediatr Neurol. 2018 Jan;22(1):128-134. doi: 10.1016/j.ejpn.2017.10.008. Epub 2017 Nov 13.

PMID:
29146237
5.

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, Stüve B, Weis J, Schara U, Russell MA, Abdul-Rahman OA, Chilton J, Blakely RD, Baple EL, Cirak S, Crosby AH.

Brain. 2017 Nov 1;140(11):2838-2850. doi: 10.1093/brain/awx249.

PMID:
29088354
6.

Cesarean Delivery and Body Mass Index at 6 Months and Into Childhood.

Vinding RK, Sejersen TS, Chawes BL, Bønnelykke K, Buhl T, Bisgaard H, Stokholm J.

Pediatrics. 2017 Jun;139(6). pii: e20164066. doi: 10.1542/peds.2016-4066.

7.

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, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, 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; Clinical Evaluator Training Group; ACT DMD Study Group.

Lancet. 2017 Sep 23;390(10101):1489-1498. doi: 10.1016/S0140-6736(17)31611-2. Epub 2017 Jul 17.

PMID:
28728956
8.

Tattoo Pigments Are Observed in the Kupffer Cells of the Liver Indicating Blood-Borne Distribution of Tattoo Ink.

Sepehri M, Sejersen T, Qvortrup K, Lerche CM, Serup J.

Dermatology. 2017;233(1):86-93. doi: 10.1159/000468149. Epub 2017 May 10.

9.

Assaying Mitochondrial Respiration as an Indicator of Cellular Metabolism and Fitness.

Smolina N, Bruton J, Kostareva A, Sejersen T.

Methods Mol Biol. 2017;1601:79-87. doi: 10.1007/978-1-4939-6960-9_7.

PMID:
28470519
10.

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; ENMC SMA Workshop Study Group.

Neuromuscul Disord. 2017 Jun;27(6):596-605. doi: 10.1016/j.nmd.2017.02.014. Epub 2017 Mar 2. No abstract available.

PMID:
28392274
11.

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.

PLoS One. 2016 Sep 23;11(9):e0163362. doi: 10.1371/journal.pone.0163362. eCollection 2016.

12.

Information and treatment decisions in severe spinal muscular atrophy: A parental follow-up.

Lövgren M, Sejersen T, Kreicbergs U.

Eur J Paediatr Neurol. 2016 Nov;20(6):830-838. doi: 10.1016/j.ejpn.2016.08.008. Epub 2016 Aug 29.

PMID:
27601065
13.

Parents' Experiences and Wishes at End of Life in Children with Spinal Muscular Atrophy Types I and II.

Lövgren M, Sejersen T, Kreicbergs U.

J Pediatr. 2016 Aug;175:201-5. doi: 10.1016/j.jpeds.2016.04.062. Epub 2016 May 27.

PMID:
27241662
14.

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.

Int J Cardiol. 2016 Aug 1;216:188-9. doi: 10.1016/j.ijcard.2016.04.164. Epub 2016 Apr 30. No abstract available.

PMID:
27166992
15.

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.

J Gen Physiol. 2016 Apr;147(4):309-22. doi: 10.1085/jgp.201511452.

16.

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; IBM Guideline Development Group.

Muscle Nerve. 2016 Apr;53(4):503-7. doi: 10.1002/mus.25036. Epub 2016 Feb 22. Review.

17.

Primary Murine Myotubes as a Model for Investigating Muscular Dystrophy.

Smolina N, Kostareva A, Bruton J, Karpushev A, Sjoberg G, Sejersen T.

Biomed Res Int. 2015;2015:594751. doi: 10.1155/2015/594751. Epub 2015 Aug 24.

18.

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, Sjöberg G, Sejersen T, Kostareva A.

Mol Genet Metab. 2015 Jun-Jul;115(2-3):118-27. doi: 10.1016/j.ymgme.2015.04.006. Epub 2015 May 6.

PMID:
25982065
19.

Aggregate-prone desmin mutations impair mitochondrial calcium uptake in primary myotubes.

Smolina N, Bruton J, Sjoberg G, Kostareva A, Sejersen T.

Cell Calcium. 2014 Oct;56(4):269-75. doi: 10.1016/j.ceca.2014.08.001. Epub 2014 Aug 10.

PMID:
25171807
20.

Muscle dysfunction and structural defects of dystrophin-null sapje mutant zebrafish larvae are rescued by ataluren treatment.

Li M, Andersson-Lendahl M, Sejersen T, Arner A.

FASEB J. 2014 Apr;28(4):1593-9. doi: 10.1096/fj.13-240044. Epub 2013 Dec 26.

PMID:
24371125
21.

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, Ortiz GG, Enriquez GV, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C, Lochmüller H.

J Neurol. 2014 Jan;261(1):152-63. doi: 10.1007/s00415-013-7154-1. Epub 2013 Oct 27.

PMID:
24162038
22.

Knockdown of desmin in zebrafish larvae affects interfilament spacing and mechanical properties of skeletal muscle.

Li M, Andersson-Lendahl M, Sejersen T, Arner A.

J Gen Physiol. 2013 Mar;141(3):335-45. doi: 10.1085/jgp.201210915.

23.

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 MC, Rahbek J, Rehmann-Sutter C, Rouault F, Sejersen T, Vroom E, Straub V, Bushby K, Ferlini A.

PLoS Curr. 2013 Jan 10;5. pii: ecurrents.md.f90b49429fa814bd26c5b22b13d773ec. doi: 10.1371/currents.md.f90b49429fa814bd26c5b22b13d773ec.

24.

Genetic spectrum of cardiomyopathies with neuromuscular phenotype.

Kostareva A, Sejersen T, Sjoberg G.

Front Biosci (Schol Ed). 2013 Jan 1;5:325-40. Review.

PMID:
23277054
25.

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.

Pediatr Cardiol. 2013 Feb;34(2):467-70. doi: 10.1007/s00246-012-0312-x. Epub 2012 Apr 7.

PMID:
22484823
26.

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.

J Child Neurol. 2012 Mar;27(3):363-82. doi: 10.1177/0883073812436605.

27.

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.

Acta Myol. 2011 Jun;30(1):42-5.

28.

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, Béroud 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; International Standard of Care Committee for Congenital Muscular Dystrophy.

J Child Neurol. 2010 Dec;25(12):1559-81. doi: 10.1177/0883073810381924. Epub 2010 Nov 15. Review.

29.
30.

Best practice guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies.

Abbs S, Tuffery-Giraud S, Bakker E, Ferlini A, Sejersen T, Mueller CR.

Neuromuscul Disord. 2010 Jun;20(6):422-7. doi: 10.1016/j.nmd.2010.04.005. Epub 2010 May 13. No abstract available.

PMID:
20466545
31.

Mice expressing L345P mutant desmin exhibit morphological and functional changes of skeletal and cardiac mitochondria.

Kostareva A, Sjöberg G, Bruton J, Zhang SJ, Balogh J, Gudkova A, Hedberg B, Edström L, Westerblad H, Sejersen T.

J Muscle Res Cell Motil. 2008;29(1):25-36. doi: 10.1007/s10974-008-9139-8. Epub 2008 Jun 19.

PMID:
18563598
32.

Deletion in TNNI3 gene is associated with restrictive cardiomyopathy.

Kostareva A, Gudkova A, Sjöberg G, Mörner S, Semernin E, Krutikov A, Shlyakhto E, Sejersen T.

Int J Cardiol. 2009 Jan 24;131(3):410-2. Epub 2007 Nov 14.

PMID:
18006163
33.

Sustained favorable effects of cognitive training in children with acquired brain injuries.

van 't Hooft I, Andersson K, Bergman B, Sejersen T, von Wendt L, Bartfai A.

NeuroRehabilitation. 2007;22(2):109-16.

PMID:
17656836
34.

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.

Acta Myol. 2006 Dec;25(3):109-15.

PMID:
17626518
35.

Long-term follow-up of children with obstetric brachial plexus palsy II: neurophysiological aspects.

Strömbeck C, Remahl S, Krumlinde-Sundholm L, Sejersen T.

Dev Med Child Neurol. 2007 Mar;49(3):204-9.

36.

Long-term follow-up of children with obstetric brachial plexus palsy I: functional aspects.

Strömbeck C, Krumlinde-Sundholm L, Remahl S, Sejersen T.

Dev Med Child Neurol. 2007 Mar;49(3):198-203.

37.

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, Sjöberg G, Kostareva A, Sejersen T, Dalakas MC, Goldfarb LG, Vicart P.

Hum Mutat. 2006 Sep;27(9):906-13.

PMID:
16865695
38.

Forced expression of desmin and desmin mutants in cultured cells: impact of myopathic missense mutations in the central coiled-coil domain on network formation.

Bär H, Kostareva A, Sjöberg G, Sejersen T, Katus HA, Herrmann H.

Exp Cell Res. 2006 May 15;312(9):1554-65. Epub 2006 Mar 7.

PMID:
16519886
39.

Beneficial effect from a cognitive training programme on children with acquired brain injuries demonstrated in a controlled study.

Hooft IV, Andersson K, Bergman B, Sejersen T, Von Wendt L, Bartfai A.

Brain Inj. 2005 Jul;19(7):511-8.

PMID:
16134739
40.

[Hereditary cardiomyopathies: a review. Mutation of structural proteins a common cause of hereditary cardiomyopathy].

Sjöberg G, Kostareva A, Sejersen T.

Lakartidningen. 2005 Mar 14-20;102(11):845-7, 850-3. Review. Swedish.

PMID:
15835520
41.

The kinase domain of titin controls muscle gene expression and protein turnover.

Lange S, Xiang F, 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.

Science. 2005 Jun 10;308(5728):1599-603. Epub 2005 Mar 31.

42.

Attention and memory training in children with acquired brain injuries.

van't Hooft I, Andersson K, Sejersen T, Bartfai A, von Wendt L.

Acta Paediatr. 2003 Aug;92(8):935-40.

PMID:
12948069
43.

Cytoskeletal derangements in hereditary myopathy with a desmin L345P mutation.

Carlsson L, Fischer C, Sjöberg G, Robson RM, Sejersen T, Thornell LE.

Acta Neuropathol. 2002 Nov;104(5):493-504. Epub 2002 Jul 3.

PMID:
12410397
44.

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.

Exp Lung Res. 2001 Sep;27(6):469-84.

PMID:
11558965
45.

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.

Hum Mol Genet. 1999 Nov;8(12):2191-8.

PMID:
10545598
47.

Pediatric rhabdomyosarcomas express the intermediate filament nestin.

Kobayashi M, Sjöberg G, Söderhäll S, Lendahl U, Sandstedt B, Sejersen T.

Pediatr Res. 1998 Mar;43(3):386-92.

PMID:
9505279
48.

Distribution of nestin in the developing mouse limb bud in vivo and in micro-mass cultures of cells isolated from limb buds.

Wroblewski J, Engström M, Edwall-Arvidsson C, Sjöberg G, Sejersen T, Lendahl U.

Differentiation. 1997 Feb;61(3):151-9.

PMID:
9084133
49.

Tenascin-C expression correlates with macrophage invasion in Duchenne muscular dystrophy and in myositis.

Gullberg D, Velling T, Sjöberg G, Salmivirta K, Gaggero B, Tiger CF, Edström L, Sejersen T.

Neuromuscul Disord. 1997 Jan;7(1):39-54.

PMID:
9132139
50.

Nestin distribution in the developing limb bud in vivo and in vitro.

Wroblewski J, Engström M, Edwall-Arvidsson C, Sjöberg G, Sejersen T, Lendahl U.

Ann N Y Acad Sci. 1996 Jun 8;785:353-5. No abstract available.

PMID:
8702179

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