Articles and posters

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Natural History of a Steriod Naive Duchenne Muscular Dystrophy Cohort

Birgit F. Steffensen, Jørgen Jeppesen, Ulla Werlauff, Jes Rahbek

Poster

01/10/2021
Ageing with neuromuscular disease: getting lost in transitions

Møller LA, Martinsen B, Werlauff U, Dreyer P

Disabil Rehabil. 2021 Mar 24:1-8.

24/03/2021
Progression or Not – A Small Natural History Study of Genetical Confirmed Congenital Myopathies

Werlauff U, Hansen PD, Witting N, Vissing J

J Neuromuscul Dis. 2021 Feb 19.

19/02/2021
I was worried about not being good enough”. Experiences and perspectives of parents living with a neuromuscular disorder – an exploration of everyday life challenges

Handberg C, Myrup P, Højberg AL

I: Disability and Rehabilitation. 2020

01/08/2020
Working group Sitting in NMDs. 1st Sitting Workshop for neuromuscular disorders Denmark, 30 September – 1 October 2019

Groot IJ, Werlauff U

I: Neuromuscul Disord. 2020 Jul;30(7):616-619

01/07/2020
“Understanding my ALS”. Experiences and reflections of persons with amyotrophic lateral sclerosis and relatives on participation in peer group rehabilitation

Madsen, Louise Sofia, Jeppesen, Jørgen, Handberg, Charlotte.

I: Disability and Rehabilitation, Bind 41, Nr. 12, 2019, s. 1410-1418

01/12/2019
The needs and psychological distress of family caregivers after the death of the ALS patient: A systematic review.

Knudsen, L

Poster præsentation. 30^th International Symposium on ALS/MND. Perth, Western Australia.

01/12/2019
Parents’ Experiences of Information and Decision Making in the Care of Their Child With Severe Spinal Muscular Atrophy

Beernaert K, Lövgren M, Jeppesen J, Werlauff U, Rahbek J, Sejersen T, Kreicbergs U.

J Child Neurol. 2019 Mar;34(4):210-215. doi: 10.1177/0883073818822900. Epub 2019 Jan 15. PMID: 30642225.

01/03/2019
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, Lövgren M

I: J Child Neurol. 2019 Feb;34(2):104-112.

01/02/2019
Evaluation of Dynamic Movement otrhoses (DMO) as a means to rellieve pain and fatigue in patients with facio-scapulo-humeral muscular dystrophy (FSHD)

Pia Z. Drivsholm, Torben Nybro, Lene Busk, Ulla Werlauff

Poster

01/10/2018
Activity and participation in young adults with Duchenne muscular dystrophy

Ann-Lisbeth Højberg

Poster

01/10/2018
How Narrative Journalistic Stories Can Communicate the Individual’s Challenges of Daily Living with Amyotrophic Lateral Sclerosis.

Jeppesen J1, Rahbek J, Gredal O, Hansen

I: HP.Patient;2014 Sep 18.

01/09/2018
Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts

Witting N, Krag T, Werlauff U, Duno M, Oestergaard ST, Dahlqvist JR, Vissing J.

I: Muscle Nerve. 2018 Jun; 57(6):1026-1030.

01/06/2018
Congenital titinopathy: Comprehensive characterisation and pathogenic insights.

Oates EC et al.

I: Ann Neurol. 2018 Apr 25.

01/04/2018
Identifying missing links within rehabilitation services for DM1 patients with adult onset in a Danish population

Asger Frost, Bente Kristensen

Poster

01/10/2017
Adolescent and female with a neuromuscular disorder: An unexplored issue

Ann-Lisbeth Højberg, Jørgen Jeppesen

I: Treat-NMD Newsletter, September 2017

01/08/2017
Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark

Witting N, Werlauff U, Duno M, Vissing J

I: Neurol Genet. 2017 Mar 21;3(2):e140.

01/03/2017
Upper Limb Clinical Outcome Group. Development of a patient-reported outcome measure for upper limb function in Duchenne muscular dystrophy: DMD Upper Limb PROM

Klingels K, Mayhew AG, Mazzone ES, Duong T, Decostre V, Werlauff U, Vroom E, Mercuri E, Goemans NM, Dev

I: Med Child Neurol. 2017 Feb;59(2):224-231

01/02/2017
Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries

Otto C, Steffensen BF, Højberg AL, Barkmann C, Rahbek J, Ravens-Sieberer U, Mahoney A, Vry J, Gramsch K, Thompson R, Rodger S, Bushby K, Lochmüller H, Kirschner J.

I: J Neurol. 2017 Apr;264(4):709-723. doi: 10.1007/s00415-017-8406-2. Epub 2017 Feb 7. PMID: 28175989.

01/02/2017
Patients with long-term Myasthenia Gravis

Asger Frost

Poster

01/01/2017
Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations

Witting N, Werlauff U, Duno M, Vissing J,

I: Muscle Nerve. 2016 Mar;53(3):388-93

01/03/2016
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy

Zaharieva IT et al.

I: Brain. 2016 Mar;139(Pt 3):674-91

01/03/2016
Orofacial problems in patients with Duchenne muscular dystrophy and spinal muscular atrophy

Ulla Werlauff, Birgit Fynbo Steffensen, Jes Rahbek

Poster

01/02/2016
Problems in participation experienced by teenage girls with NMD

Ann-Lisbeth Højberg

Poster

01/10/2015
Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years

Werlauff U, Petri, H, Witting N, Vissing, J

I: Neuromuscular Diseases 2 (2015) 167–174

01/02/2015
Parents’ Experiences of Information and Decision Making in the Care of Their Child With Severe Spinal Muscular Atrophy: A Population Survey

Beernaert K, Lövgren M, Jeppesen J, Werlauff U, Rahbek J, Sejersen T, Kreicbergs U

I: J Child Neurol. 2019 Jan 15.

01/01/2015
Fatigue in patients with spinal muscular atrophy type II and congenital myopathies: evaluation of the fatigue severity scale

Werlauff U, Højberg A, Firla-Holme R, Steffensen BF, Vissing J.

Qual Life Res. 2014 Jun;23(5):1479-88. doi: 10.1007/s11136-013-0565-8. Epub 2013 Nov 9. PMID: 24214178.

23/06/2014
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy

Citirak G, Witting N, Duno M, Werlauff U, Petri H, Vissing J.

Neuromuscul Disord. 2014 Apr;24(4):325-30. doi: 10.1016/j.nmd.2013.12.008. Epub 2014 Jan 3. PMID: 24507666.

24/04/2014
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy

Citirak G, Witting N, Duno M, Werlauff U, Petri H, Vissing J

I: Neuromuscul Disord. 2014 Apr;24(4):325-30

01/04/2014
International Coordinating Committee for SMA Clinical Trials Rasch Task Force. Rasch analysis of clinical outcome measures in spinal muscular atrophy

Cano SJ, Mayhew A, Glanzman AM, Krosschell KJ, Swoboda KJ, Main M, Steffensen BF et al.

I: Muscle Nerve. 2014 Mar;49(3):422-30.

01/03/2014
Fatigue in patients with spinal muscular atrophy type II and congenital myopathies: evaluation of the fatigue severity scale

Werlauff U, Højberg A, Firla-Holme R, Steffensen BF

I: Qual life Res 2014; 23 (5)1479-88

01/01/2014
The applicability of four clinical methods to evaluate arm and hand function in all stages of spinal muscular atrophy type II

Werlauff U, Fynbo Steffensen B

I: Disabil Rehabil. 2014;36(25):2120-6

01/01/2014
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 et al.

I: J Neurol. 2014 Jan;261(1):152-63.

01/01/2014
Physical characteristics and applicability of standard assessment methods in a total population of spinal muscular atrophy type II patients

Werlauff U, Steffensen BF, Bertelsen S, Fløytrup I, Kristensen B, Werge B.

Neuromuscul Disord. 2010 Jan;20(1):34-43

09/11/2013
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

Bladen CL et al.

I: Hum Mutat. 2013 Nov;34(11):1449-57

01/11/2013
Age-period-cohort analysis of trends in amyotrophic lateral sclerosis in Denmark, 1970-2009.

Seals RM, Hansen J, Gredal O, Weisskopf MG.

I: Am J Epidemiol. 2013 Oct 15;178(8):1265-71.

01/10/2013
Rehabilitering med historier. En socio-narratologisk undersøgelse af journalistisk fortælling som metode til at forstå patienten som medmenneske

Jeppesen J. Ph.d.-afhandling

Syddansk Universitet, Det Sundhedsvidenskabelige Fakultet, 2013

01/01/2013
Change in muscle strength over time in spinal muscular atrophy types II and III. A long-term follow-up study

Werlauff U, Vissing J, Steffensen BF

I: Neuromuscul Disord 2012,12:(1069-74)

01/12/2012
Examining the effect of networks for students with special educational needs

Højberg, Ann-Lisbeth, Jeppesen, Jørgen

I: Journal of Disability Research, Vol. 14, No 2, 2012, p.126-147.

01/06/2012
Novel TARDBP mutations in Nordic ALS patients

Chiang HH, Andersen PM, Tysnes OB, Gredal O, Christensen PB, Graff C.

I: J Hum Genet. 2012 May;57(5):316-9.

01/05/2012
Journalistisk fortælling kan øge sundhedsprofessionel indsigt i rehabilitering.

Jeppesen J, Gredal O, Rahbek J, Hansen H.P. (2012).

I: Ugeskrift for Læger, 174: 2079-2081.

01/01/2012
Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

Tümer Z, Bertelsen B, Gredal O, Magyari M, Nielsen KC, Lucamp, Grønskov K, Brøndum-Nielsen K.

I: Neurobiol Aging. 2012 Jan;33(1):208.

01/01/2012
Does muscle strength deteriorate in spinal muscular atrophy type 2 and 3

Ulla Werlauff, John Vissing, Birgit F. Steffensen

Poster

01/10/2011
Longitudinal data analysis: an application to construction of a natural history profile of Duchenne muscular dystrophy

Hyde SA, Steffensen BF, Fløytrup I, Glent S, Kroksmark AK, Salling B, Werlauff U, Erlandsen M

I: Neuromuscul Disord. 2001 Mar;11(2):165-70

01/03/2011
Narrative journalism as complementary inquiry

Jeppesen, J & Hansen, H.P.

I: Qualitative Studies 2011:2 (2): 98-117

01/02/2011
Consensus statement on standard of care for congenital muscular dystrophies

Wang CH et al. International Standard of Care Committee for Congenital Muscular Dystrophy.

I: J Child Neurol. 2010 Dec;25(12):1559-81.

01/12/2010
Living with severe physical impairment, Duchenne’s muscular dystrophy and home mechanical ventilation

Dreyer PS, Steffensen BF, Pedersen BD.

I: Int J Qual Stud Health Well-being. 2010 Aug 2;5.

01/08/2010
A randomized comparative study of two methods for controlling Tendo Achilles contracture in Duchenne muscular dystrophy

Hyde SA, Fløytrup I, Glent S, Kroksmark AK, Salling B, Steffensen BF, Werlauff U, Erlandsen M

I: Neuromuscul Disord. 2000 Jun;10(4-5):257-63

01/06/2010
Respiratorbehandling til patienter med motor neuron disease – hvad har betydning for patientens til- og fravalg

Møller J, Timm H, Felding M.

I: OMSORG, Nordisk Tidsskrift for Palliativ Medicin nr. 4/2010.

01/04/2010
Life with home mechanical ventilation for young men with Duchenne muscular dystrophy

Dreyer PS, Steffensen BF, Pedersen BD.

I: J Adv Nurs. 2010 Apr;66(4):753-62.

01/04/2010
Living and ageing with spinal muscular atrophy type 2: observations among an unexplored patient population

Jeppesen J, Madsen A, Marquardt J, Rahbek

I: J. Dev Neurorehabil. 2010 Feb;13(1):10-8.

01/02/2010
Physical characteristics and applicability of standard assessment methods in a total population of spinal muscular atrophy type II patients

Werlauff U, Steffensen BF, Bertelsen S, Floytrup I, Kristensen B, Werge B

I: Neuromuscul Disord. 2010, 20(34-43)

01/01/2010
Developing and maintaining of user-defined personal competencies among young adults with congenital physical disability

Ann-Lisbeth Højberg, Birgit Fynbo Steffensen

Developmental Neurorehabilitation, 11 March 2008

01/03/2008
Adult life with Duchenne muscular dystrophy: observations among an emerging and unforeseen patient population

Rahbek J, Werge B, Madsen A, Marquardt J, Steffensen BF, Jeppesen

I: J. Pediatr Rehabil. 2005 Jan-Mar;8(1):17-28.

01/01/2005
The Duchenne muscular dystrophy population in Denmark, 1977-2001: prevalence, incidence and survival in relation to the introduction of ventilator use

Jeppesen J, Green A, Steffensen BF, Rahbek J.

I: Neuromuscul Disord. 2003 Dec;13(10):804-12.

01/12/2003
Physical capacity in non-ambulatory people with Duchenne muscular dystrophy or spinal muscular atrophy: a longitudinal study

Steffensen BF, Lyager S, Werge B, Rahbek J, Mattsson E. Dev

I: Med Child Neurol. 2002 Sep;44(9):623-32

01/09/2002
Fracture risk in patients with muscular dystrophy and spinal muscular atrophy

Vestergaard P, Glerup H, Steffensen BF, Rejnmark L, Rahbek J, Moseklide L.

I: J Rehabil Med. 2001 Jul;33(4):150-5.

01/07/2001
Tilværelsen for permanente respiratorbrugere med muskelsvind, set med brugerøjne. Information, valg og livskvalitet

Jørs E, Steffensen B.

I: Ugeskrift for Læger 1992; 154: 783-88.

01/01/1992
Muscular dystrophy and exercise

Andersen R, Mälkiä E, Steffensen BF.

I: Ugeskr Laeger. 1989 Jun 5;151(23):1483-4.

05/06/1989
Virkning af respirationsmuskeltræning hos normale og patienter med nedsat respirationsmuskelkraft

Estrup C, Lyager S, Næraa N, Olsen C.

I: Ugeskrift for Læger 1986; 148/22: 1345-1349.

01/01/1986
Effect of Respiratory Muscle Training in Patients with Neuromuscular Diseases and in Normals

Estrup C, Lyager S, Næraa N, Olsen C.

I: Respiration 1986; 50:36-43.

01/01/1986
Cardiopulmonary Response to Exercise in Patients with Neuromuscular Diseases

Lyager S, Næraa N, Pedersen OF.

I: Respiration 1984; 45: 89-99.

01/01/1984
Alle publikationer af Charlotte Handberg

31/12/1980
Alle publikationer af Lone Knudsen

31/12/1980

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