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Items: 50

1.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium, Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE.

Acta Neuropathol. 2019 Aug 29. doi: 10.1007/s00401-019-02059-z. [Epub ahead of print]

PMID:
31463572
2.

Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.

Ross JA, Levy Y, Ripolone M, Kolb JS, Turmaine M, Holt M, Lindqvist J, Claeys KG, Weis J, Monforte M, Tasca G, Moggio M, Figeac N, Zammit PS, Jungbluth H, Fiorillo C, Vissing J, Witting N, Granzier H, Zanoteli E, Hardeman EC, Wallgren-Pettersson C, Ochala J.

Acta Neuropathol. 2019 Sep;138(3):477-495. doi: 10.1007/s00401-019-02034-8. Epub 2019 Jun 19.

3.

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.

Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, van Engelen BG, Bulk S, Verschuuren-Bemelmans CC, Gerkes EH, de Geus C, van der Zwaag PA, Chan S, Chung B, Barge-Schaapveld DQCM, Kriek M, Sznajer Y, van Spaendonck-Zwarts K, van der Kooi AJ, Krause A, Schönewolf-Greulich B, de Die-Smulders C, Sallevelt SCEH, Krapels IPC, Rasmussen M, Maystadt I, Kievit AJA, Witting N, Pennings M, Meijer R, Gillissen C, Kamsteeg EJ, Voermans NC.

J Neuromuscul Dis. 2019;6(2):241-258. doi: 10.3233/JND-180376.

PMID:
31127727
4.

Congenital myopathies are mainly associated with a mild cardiac phenotype.

Petri H, Wahbi K, Witting N, Køber L, Bundgaard H, Kamoun E, Vellieux G, Stojkovic T, Béhin A, Laforet P, Vissing J.

J Neurol. 2019 Jun;266(6):1367-1375. doi: 10.1007/s00415-019-09267-3. Epub 2019 Mar 14.

PMID:
30874888
5.

Role of neuronal nitric oxide synthase (nNOS) in Duchenne and Becker muscular dystrophies - Still a possible treatment modality?

Dombernowsky NW, Ölmestig JNE, Witting N, Kruuse C.

Neuromuscul Disord. 2018 Nov;28(11):914-926. doi: 10.1016/j.nmd.2018.09.001. Epub 2018 Sep 11. Review.

PMID:
30352768
6.

Altered somatosensory neurovascular response in patients with Becker muscular dystrophy.

Lindberg U, Kruuse C, Witting N, Jørgensen SL, Vissing J, Rostrup E, Larsson HBW.

Brain Behav. 2018 Jun;8(6):e00985. doi: 10.1002/brb3.985. Epub 2018 Apr 24.

7.

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Johnson K, Bertoli M, Phillips L, Töpf A, Van den Bergh P, Vissing J, Witting N, Nafissi S, Jamal-Omidi S, Łusakowska A, Kostera-Pruszczyk A, Potulska-Chromik A, Deconinck N, Wallgren-Pettersson C, Strang-Karlsson S, Colomer J, Claeys KG, De Ridder W, Baets J, von der Hagen M, Fernández-Torrón R, Zulaica Ijurco M, Espinal Valencia JB, Hahn A, Durmus H, Willis T, Xu L, Valkanas E, Mullen TE, Lek M, MacArthur DG, Straub V.

Skelet Muscle. 2018 Jul 30;8(1):23. doi: 10.1186/s13395-018-0170-1.

8.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.

9.

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.

Witting N, Laforêt P, Voermans NC, Roux-Buisson N, Bompaire F, Rendu J, Duno M, Feillet F, Kamsteeg EJ, Poulsen NS, Dahlqvist JR, Romero NB, Fauré J, Vissing J, Behin A.

Acta Neurol Scand. 2018 May;137(5):452-461. doi: 10.1111/ane.12885. Epub 2017 Dec 29.

PMID:
29635721
10.

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.

Muscle Nerve. 2018 Jun;57(6):1026-1030. doi: 10.1002/mus.26067. Epub 2018 Feb 5.

PMID:
29342313
11.

The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study.

Andersen G, Hedermann G, Witting N, Duno M, Andersen H, Vissing J.

Brain. 2017 Sep 1;140(9):2295-2305. doi: 10.1093/brain/awx192.

PMID:
29050397
12.

Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.

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

Neurol Genet. 2017 Mar 21;3(2):e140. doi: 10.1212/NXG.0000000000000140. eCollection 2017 Apr.

13.

Reliability of the 2- and 6-minute walk tests in neuromuscular diseases.

Knak KL, Andersen LK, Witting N, Vissing J.

J Rehabil Med. 2017 Apr 6;49(4):362-366. doi: 10.2340/16501977-2222.

14.

Effects of Sildenafil on Cerebrovascular Reactivity in Patients with Becker Muscular Dystrophy.

Lindberg U, Witting N, Jørgensen SL, Vissing J, Rostrup E, Larsson HB, Kruuse C.

Neurotherapeutics. 2017 Jan;14(1):182-190. doi: 10.1007/s13311-016-0467-x.

15.

A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.

Vissing J, Barresi R, Witting N, Van Ghelue M, Gammelgaard L, Bindoff LA, Straub V, Lochmüller H, Hudson J, Wahl CM, Arnardottir S, Dahlbom K, Jonsrud C, Duno M.

Brain. 2016 Aug;139(Pt 8):2154-63. doi: 10.1093/brain/aww133. Epub 2016 Jun 3.

PMID:
27259757
16.

Aerobic Training in Patients with Congenital Myopathy.

Hedermann G, Vissing CR, Heje K, Preisler N, Witting N, Vissing J.

PLoS One. 2016 Jan 11;11(1):e0146036. doi: 10.1371/journal.pone.0146036. eCollection 2016.

17.

Two- and 6-minute walk tests assess walking capability equally in neuromuscular diseases.

Andersen LK, Knak KL, Witting N, Vissing J.

Neurology. 2016 Feb 2;86(5):442-5. doi: 10.1212/WNL.0000000000002332. Epub 2016 Jan 6.

PMID:
26740680
18.

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F.

Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22.

19.

Axial myopathy: an overlooked feature of muscle diseases.

Witting N, Andersen LK, Vissing J.

Brain. 2016 Jan;139(Pt 1):13-22. doi: 10.1093/brain/awv332. Epub 2015 Dec 14. Review.

PMID:
26667281
20.

Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.

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

Muscle Nerve. 2016 Mar;53(3):388-93. doi: 10.1002/mus.24765. Epub 2015 Aug 13.

PMID:
26172852
21.

Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years.

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

J Neuromuscul Dis. 2015 Jun 4;2(2):167-174.

22.

Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.

Semplicini C, Vissing J, Dahlqvist JR, Stojkovic T, Bello L, Witting N, Duno M, Leturcq F, Bertolin C, D'Ambrosio P, Eymard B, Angelini C, Politano L, Laforêt P, Pegoraro E.

Neurology. 2015 Apr 28;84(17):1772-81. doi: 10.1212/WNL.0000000000001519. Epub 2015 Apr 10.

23.

Clinical and neurophysiological response to pharmacological treatment of DOK7 congenital myasthenia in an older patient.

Witting N, Crone C, Duno M, Vissing J.

Clin Neurol Neurosurg. 2015 Mar;130:168-70. doi: 10.1016/j.clineuro.2015.01.010. Epub 2015 Jan 15. No abstract available.

PMID:
25625551
24.

Progression of cardiac involvement in patients with limb-girdle type 2 and Becker muscular dystrophies: a 9-year follow-up study.

Petri H, Sveen ML, Thune JJ, Vissing C, Dahlqvist JR, Witting N, Bundgaard H, Køber L, Vissing J.

Int J Cardiol. 2015 Mar 1;182:403-11. doi: 10.1016/j.ijcard.2014.12.090. Epub 2014 Dec 27.

PMID:
25596466
25.

Decreased variability of the 6-minute walk test by heart rate correction in patients with neuromuscular disease.

Prahm KP, Witting N, Vissing J.

PLoS One. 2014 Dec 5;9(12):e114273. doi: 10.1371/journal.pone.0114273. eCollection 2014.

26.

Endocrine function over time in patients with myotonic dystrophy type 1.

Dahlqvist JR, Ørngreen MC, Witting N, Vissing J.

Eur J Neurol. 2015 Jan;22(1):116-22. doi: 10.1111/ene.12542. Epub 2014 Aug 25.

PMID:
25155546
27.

Myocardial fibrosis in patients with myotonic dystrophy type 1: a cardiovascular magnetic resonance study.

Petri H, Ahtarovski KA, Vejlstrup N, Vissing J, Witting N, Køber L, Bundgaard H.

J Cardiovasc Magn Reson. 2014 Aug 1;16:59. doi: 10.1186/s12968-014-0059-z.

28.

Effect of sildenafil on skeletal and cardiac muscle in Becker muscular dystrophy.

Witting N, Kruuse C, Nyhuus B, Prahm KP, Citirak G, Lundgaard SJ, von Huth S, Vejlstrup N, Lindberg U, Krag TO, Vissing J.

Ann Neurol. 2014 Oct;76(4):550-7. doi: 10.1002/ana.24216. Epub 2014 Jul 15.

PMID:
25042931
29.

High prevalence of cardiac involvement in patients with myotonic dystrophy type 1: a cross-sectional study.

Petri H, Witting N, Ersbøll MK, Sajadieh A, Dunø M, Helweg-Larsen S, Vissing J, Køber L, Bundgaard H.

Int J Cardiol. 2014 Jun 1;174(1):31-6. doi: 10.1016/j.ijcard.2014.03.088. Epub 2014 Mar 20.

PMID:
24704412
30.

Ocular, bulbar, limb, and cardiopulmonary involvement in oculopharyngeal muscular dystrophy.

Witting N, Mensah A, Køber L, Bundgaard H, Petri H, Duno M, Milea D, Vissing J.

Acta Neurol Scand. 2014 Aug;130(2):125-30. doi: 10.1111/ane.12244. Epub 2014 Mar 10.

PMID:
24611576
31.

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
32.

Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome.

Witting N, Vissing J.

JAMA Neurol. 2014 Mar;71(3):350-4. doi: 10.1001/jamaneurol.2013.5590. Review.

PMID:
24425145
33.

Severe axial myopathy in McArdle disease.

Witting N, Duno M, Piraud M, Vissing J.

JAMA Neurol. 2014 Jan;71(1):88-90. doi: 10.1001/jamaneurol.2013.3209.

PMID:
24216972
34.

Delayed diagnosis of oculopharyngeal muscular dystrophy in Denmark: from initial ptosis to genetic testing.

Mensah A, Witting N, Duno M, Milea D, Vissing J.

Acta Ophthalmol. 2014 May;92(3):e247-9. doi: 10.1111/aos.12243. Epub 2013 Jul 15. No abstract available.

35.

Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.

Witting N, Duno M, Petri H, Krag T, Bundgaard H, Kober L, Vissing J.

J Neurol. 2013 Aug;260(8):2084-93. doi: 10.1007/s00415-013-6934-y. Epub 2013 May 14.

PMID:
23670307
36.

Response.

Witting N, Duno M, Vissing J.

Neuromuscul Disord. 2013 Feb;23(2):193. doi: 10.1016/j.nmd.2012.12.006. Epub 2013 Jan 26. No abstract available.

PMID:
23357682
37.

Response letter to "Cardiac involvement in myotonic dystrophy type 1--do not forget the loop recorder!".

Petri H, Vissing J, Witting N, Bundgaard H, Køber L.

Int J Cardiol. 2013 Sep 30;168(2):1541. doi: 10.1016/j.ijcard.2012.12.033. Epub 2012 Dec 29. No abstract available.

PMID:
23276392
38.

LGMD2L with bone affection: overlapping phenotype of dominant and recessive ANO5-induced disease.

Witting N, Duno M, Born AP, Vissing J.

Muscle Nerve. 2012 Nov;46(5):829-30. doi: 10.1002/mus.23440. No abstract available.

PMID:
23055322
39.

Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2.

Witting N, Duno M, Vissing J.

Neuromuscul Disord. 2013 Jan;23(1):25-8. doi: 10.1016/j.nmd.2012.07.004. Epub 2012 Aug 28.

PMID:
22939275
40.
41.

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J.

Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067. Epub 2012 Apr 4.

42.

Cardiac manifestations of myotonic dystrophy type 1.

Petri H, Vissing J, Witting N, Bundgaard H, Køber L.

Int J Cardiol. 2012 Oct 4;160(2):82-8. doi: 10.1016/j.ijcard.2011.08.037. Epub 2011 Sep 13. Review.

PMID:
21917328
43.

A PET activation study of brush-evoked allodynia in patients with nerve injury pain.

Witting N, Kupers RC, Svensson P, Jensen TS.

Pain. 2006 Jan;120(1-2):145-54. Epub 2005 Dec 20.

PMID:
16368192
44.

Differential recruitment of endogenous pain inhibitory systems in neuropathic pain patients.

Witting N, Svensson P, Jensen TS.

Pain. 2003 May;103(1-2):75-81.

PMID:
12749961
45.

Experimental brush-evoked allodynia activates posterior parietal cortex.

Witting N, Kupers RC, Svensson P, Arendt-Nielsen L, Gjedde A, Jensen TS.

Neurology. 2001 Nov 27;57(10):1817-24.

PMID:
11723270
46.

Has basic research contributed to chronic pain treatment?

Jensen TS, Gottrup H, Kasch H, Nikolajsen L, Terkelsen AJ, Witting N.

Acta Anaesthesiol Scand. 2001 Oct;45(9):1128-35. Review.

PMID:
11683664
47.

Repetitive intradermal capsaicin: differential effect on pain and areas of allodynia and punctate hyperalgesia.

Witting N, Svensson P, Arendt-Nielsen L, Jensen TS.

Somatosens Mot Res. 2000;17(1):5-12.

PMID:
10833080
48.

Intramuscular and intradermal injection of capsaicin: a comparison of local and referred pain.

Witting N, Svensson P, Gottrup H, Arendt-Nielsen L, Jensen TS.

Pain. 2000 Feb;84(2-3):407-12.

PMID:
10666547
49.

Differential effect of painful heterotopic stimulation on capsaicin-induced pain and allodynia.

Witting N, Svensson P, Arendt-Nielsen L, Jensen TS.

Brain Res. 1998 Aug 10;801(1-2):206-10.

PMID:
9729389
50.

[The dermatological clinic--a new training hospital].

Hallenborg U, Witting NO.

Lakartidningen. 1965 Nov 17;62(46):3849-55. Swedish. No abstract available.

PMID:
5869320

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