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Items: 1 to 50 of 311

1.

Titrating a modified ketogenic diet for patients with McArdle disease: a pilot study.

Løkken N, Hansen KK, Storgaard JH, Ørngreen MC, Quinlivan R, Vissing J.

J Inherit Metab Dis. 2020 Feb 15. doi: 10.1002/jimd.12223. [Epub ahead of print]

PMID:
32060930
2.

Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophies.

Verdú-Díaz J, Alonso-Pérez J, Nuñez-Peralta C, Tasca G, Vissing J, Straub V, Fernández-Torrón R, Llauger J, Illa I, Díaz-Manera J.

Neurology. 2020 Feb 6. pii: 10.1212/WNL.0000000000009068. doi: 10.1212/WNL.0000000000009068. [Epub ahead of print]

PMID:
32029545
3.

Exercise therapy for muscle and lower motor neuron diseases.

Sheikh AM, Vissing J.

Acta Myol. 2019 Dec 1;38(4):215-232. eCollection 2019 Dec.

4.

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy (MOTOR trial).

Madsen KL, Buch AE, Cohen BH, Falk MJ, Goldsberry A, Goldstein A, Karaa A, Koenig MK, Muraresku CC, Meyer C, O'Grady M, Scaglia F, Shieh PB, Vockley J, Zolkipli-Cunningham Z, Haller RG, Vissing J.

Neurology. 2020 Jan 2. pii: 10.1212/WNL.0000000000008861. doi: 10.1212/WNL.0000000000008861. [Epub ahead of print]

PMID:
31896620
5.

Absence of p.R50X Pygm read-through in McArdle disease cellular models.

Tarrasó G, Real-Martinez A, Parés M, Romero-Cortadellas L, Puigros L, Moya L, de Luna N, Brull A, Martín MA, Arenas J, Lucia A, Andreu AL, Barquinero J, Vissing J, Krag TO, Pinós T.

Dis Model Mech. 2020 Jan 13;13(1). pii: dmm043281. doi: 10.1242/dmm.043281.

6.

MYO-MRI diagnostic protocols in genetic myopathies.

Warman Chardon J, Díaz-Manera J, Tasca G, Bönnemann CG, Gómez-Andrés D, Heerschap A, Mercuri E, Muntoni F, Pichiecchio A, Ricci E, Walter MC, Hanna M, Jungbluth H, Morrow JM, Fernández-Torrón R, Udd B, Vissing J, Yousry T, Quijano-Roy S, Straub V, Carlier RY; MYO-MRI Working Group.

Neuromuscul Disord. 2019 Nov;29(11):827-841. doi: 10.1016/j.nmd.2019.08.011. Epub 2019 Sep 16. Review.

PMID:
31727541
7.

Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy.

Poulsen NS, Madsen KL, Hornsyld TM, Eisum AV, Fornander F, Buch AE, Stemmerik MG, Ruiz-Ruiz C, Krag TO, Vissing J.

Mitochondrion. 2020 Jan;50:35-41. doi: 10.1016/j.mito.2019.10.005. Epub 2019 Oct 26.

PMID:
31669236
8.

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.

Laforêt P, Inoue M, Goillot E, Lefeuvre C, Cagin U, Streichenberger N, Leonard-Louis S, Brochier G, Madelaine A, Labasse C, Hedberg-Oldfors C, Krag T, Jauze L, Fabregue J, Labrune P, Milisenda J, Nadaj-Pakleza A, Sacconi S, Mingozzi F, Ronzitti G, Petit F, Schoser B, Oldfors A, Vissing J, Romero NB, Nishino I, Malfatti E.

Acta Neuropathol Commun. 2019 Oct 28;7(1):167. doi: 10.1186/s40478-019-0815-2.

9.

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

Bryen SJ, Ewans LJ, Pinner J, MacLennan SC, Donkervoort S, Castro D, Töpf A, O'Grady G, Cummings B, Chao KR, Weisburd B, Francioli L, Faiz F, Bournazos AM, Hu Y, Grosmann C, Malicki DM, Doyle H, Witting N, Vissing J, Claeys KG, Urankar K, Beleza-Meireles A, Baptista J, Ellard S, Savarese M, Johari M, Vihola A, Udd B, Majumdar A, Straub V, Bönnemann CG, MacArthur DG, Davis MR, Cooper ST.

Hum Mutat. 2019 Oct 29. doi: 10.1002/humu.23938. [Epub ahead of print]

PMID:
31660661
10.

POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.

Vissing J, Johnson K, Töpf A, Nafissi S, Díaz-Manera J, French VM, Schindler RF, Sarathchandra P, Løkken N, Rinné S, Freund M, Decher N, Müller T, Duno M, Krag T, Brand T, Straub V.

Ann Neurol. 2019 Dec;86(6):832-843. doi: 10.1002/ana.25620. Epub 2019 Oct 28.

PMID:
31610034
11.

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).

Barp A, Laforet P, Bello L, Tasca G, Vissing J, Monforte M, Ricci E, Choumert A, Stojkovic T, Malfatti E, Pegoraro E, Semplicini C, Stramare R, Scheidegger O, Haberlova J, Straub V, Marini-Bettolo C, Løkken N, Diaz-Manera J, Urtizberea JA, Mercuri E, Kynčl M, Walter MC, Carlier RY.

J Neurol. 2020 Jan;267(1):45-56. doi: 10.1007/s00415-019-09539-y. Epub 2019 Sep 25.

PMID:
31555977
12.

No effect of triheptanoin on exercise performance in McArdle disease.

Madsen KL, Laforêt P, Buch AE, Stemmerik MG, Ottolenghi C, Hatem SN, Raaschou-Pedersen DT, Poulsen NS, Atencio M, Luton MP, Ceccaldi A, Haller RG, Quinlivan R, Mochel F, Vissing J.

Ann Clin Transl Neurol. 2019 Oct;6(10):1949-1960. doi: 10.1002/acn3.50863. Epub 2019 Sep 14.

13.

Fat oxidation is impaired during exercise in lipin-1 deficiency.

Raaschou-Pedersen D, Madsen KL, Stemmerik MG, Eisum AV, Straub V, Vissing J.

Neurology. 2019 Oct 8;93(15):e1433-e1438. doi: 10.1212/WNL.0000000000008240. Epub 2019 Sep 6.

PMID:
31492716
14.

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 Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29.

15.

Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial.

Hanna MG, Badrising UA, Benveniste O, Lloyd TE, Needham M, Chinoy H, Aoki M, Machado PM, Liang C, Reardon KA, de Visser M, Ascherman DP, Barohn RJ, Dimachkie MM, Miller JAL, Kissel JT, Oskarsson B, Joyce NC, Van den Bergh P, Baets J, De Bleecker JL, Karam C, David WS, Mirabella M, Nations SP, Jung HH, Pegoraro E, Maggi L, Rodolico C, Filosto M, Shaibani AI, Sivakumar K, Goyal NA, Mori-Yoshimura M, Yamashita S, Suzuki N, Katsuno M, Murata K, Nodera H, Nishino I, Romano CD, Williams VSL, Vissing J, Auberson LZ, Wu M, de Vera A, Papanicolaou DA, Amato AA; RESILIENT Study Group.

Lancet Neurol. 2019 Sep;18(9):834-844. doi: 10.1016/S1474-4422(19)30200-5.

PMID:
31397289
16.

Hydroxylated Long-Chain Acylcarnitines are Biomarkers of Mitochondrial Myopathy.

Vissing CR, Dunø M, Wibrand F, Christensen M, Vissing J.

J Clin Endocrinol Metab. 2019 Dec 1;104(12):5968-5976. doi: 10.1210/jc.2019-00721.

PMID:
31294795
17.

[Fatal cachexia caused by mitochondrial neuro-gastro-intestinal encephalomyopathy].

Hoei-Hansen CE, Scheie D, Lund EL, Kondziella D, Vissing J, Christiansen I.

Ugeskr Laeger. 2019 Jun 10;181(24). pii: V01190070. Danish.

PMID:
31267951
18.

Impaired fat oxidation during exercise in multiple acyl-CoA dehydrogenase deficiency.

Madsen KL, Preisler N, Buch AE, Stemmerik MG, Laforêt P, Vissing J.

JIMD Rep. 2019 Mar 14;46(1):79-84. doi: 10.1002/jmd2.12024. eCollection 2019 Mar.

19.

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.

20.

Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints.

Murphy AP, Morrow J, Dahlqvist JR, Stojkovic T, Willis TA, Sinclair CDJ, Wastling S, Yousry T, Hanna MS, James MK, Mayhew A, Eagle M, Lee LE, Hogrel JY, Carlier PG, Thornton JS, Vissing J, Hollingsworth KG, Straub V.

Ann Clin Transl Neurol. 2019 May 16;6(6):1033-1045. doi: 10.1002/acn3.774. eCollection 2019 Jun. Erratum in: Ann Clin Transl Neurol. 2019 Jul;6(7):1358.

21.

Mitochondrial mutation m.3243A>G associates with insulin resistance in non-diabetic carriers.

Langdahl JH, Frederiksen AL, Vissing J, Frost M, Yderstræde KB, Andersen PH.

Endocr Connect. 2019 Jul;8(7):829-837. doi: 10.1530/EC-19-0118.

22.

Moderate-intensity aerobic exercise improves physical fitness in bethlem myopathy.

Vissing CR, Hedermann G, Vissing J.

Muscle Nerve. 2019 Aug;60(2):183-188. doi: 10.1002/mus.26498. Epub 2019 May 9.

PMID:
31026058
23.

High-intensity training in patients with spinal and bulbar muscular atrophy.

Heje K, Andersen G, Buch A, Andersen H, Vissing J.

J Neurol. 2019 Jul;266(7):1693-1697. doi: 10.1007/s00415-019-09316-x. Epub 2019 Apr 19.

PMID:
31004213
24.

Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose.

Madsen KL, Stemmerik MG, Buch AE, Poulsen NS, Lund AM, Vissing J.

J Clin Endocrinol Metab. 2019 Sep 1;104(9):3610-3613. doi: 10.1210/jc.2019-00453.

PMID:
30990523
25.

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

Bachmann C, Noreen F, Voermans NC, Schär PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, Mathews KD, Meyer M, Genetti CA, Meola G, Cardani R, Mathews E, Jungbluth H, Muntoni F, Zorzato F, Treves S.

Hum Mutat. 2019 Jul;40(7):962-974. doi: 10.1002/humu.23745. Epub 2019 Apr 1.

PMID:
30932294
26.

Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model.

Real-Martinez A, Brull A, Huerta J, Tarrasó G, Lucia A, Martin MA, Arenas J, Andreu AL, Nogales-Gadea G, Vissing J, Krag TO, de Luna N, Pinós T.

Sci Rep. 2019 Mar 26;9(1):5116. doi: 10.1038/s41598-019-41414-8.

27.

Muscle contractility in spinobulbar muscular atrophy.

Dahlqvist JR, Oestergaard ST, Poulsen NS, Knak KL, Thomsen C, Vissing J.

Sci Rep. 2019 Mar 18;9(1):4680. doi: 10.1038/s41598-019-41240-y.

28.

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
29.

Adaptations in Mitochondrial Enzymatic Activity Occurs Independent of Genomic Dosage in Response to Aerobic Exercise Training and Deconditioning in Human Skeletal Muscle.

Fritzen AM, Thøgersen FB, Thybo K, Vissing CR, Krag TO, Ruiz-Ruiz C, Risom L, Wibrand F, Høeg LD, Kiens B, Duno M, Vissing J, Jeppesen TD.

Cells. 2019 Mar 12;8(3). pii: E237. doi: 10.3390/cells8030237.

30.

Relationship between muscle inflammation and fat replacement assessed by MRI in facioscapulohumeral muscular dystrophy.

Dahlqvist JR, Andersen G, Khawajazada T, Vissing C, Thomsen C, Vissing J.

J Neurol. 2019 May;266(5):1127-1135. doi: 10.1007/s00415-019-09242-y. Epub 2019 Feb 18.

PMID:
30778707
31.

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study.

Pena LDM, Barohn RJ, Byrne BJ, Desnuelle C, Goker-Alpan O, Ladha S, Laforêt P, Mengel KE, Pestronk A, Pouget J, Schoser B, Straub V, Trivedi J, Van Damme P, Vissing J, Young P, Kacena K, Shafi R, Thurberg BL, Culm-Merdek K, van der Ploeg AT; NEO1 Investigator Group.

Neuromuscul Disord. 2019 Mar;29(3):167-186. doi: 10.1016/j.nmd.2018.12.004. Epub 2018 Dec 17.

32.

Long-term safety and efficacy of eculizumab in generalized myasthenia gravis.

Muppidi S, Utsugisawa K, Benatar M, Murai H, Barohn RJ, Illa I, Jacob S, Vissing J, Burns TM, Kissel JT, Nowak RJ, Andersen H, Casasnovas C, de Bleecker JL, Vu TH, Mantegazza R, O'Brien FL, Wang JJ, Fujita KP, Howard JF Jr; Regain Study Group.

Muscle Nerve. 2019 Jul;60(1):14-24. doi: 10.1002/mus.26447. Epub 2019 Mar 8.

33.

Paternal comeback in mitochondrial DNA inheritance.

Vissing J.

Proc Natl Acad Sci U S A. 2019 Jan 29;116(5):1475-1476. doi: 10.1073/pnas.1821192116. Epub 2019 Jan 11. No abstract available.

34.

Refining the spinobulbar muscular atrophy phenotype by quantitative MRI and clinical assessments.

Dahlqvist JR, Oestergaard ST, Poulsen NS, Thomsen C, Vissing J.

Neurology. 2019 Feb 5;92(6):e548-e559. doi: 10.1212/WNL.0000000000006887. Epub 2019 Jan 4.

PMID:
30610091
35.

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.

Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J.

J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8.

PMID:
30530568
36.

Muscle Strength and Aerobic Capacity in Patients with CIDP One Year after Participation in an Exercise Trial.

Markvardsen LK, Carstens AR, Knak KL, Overgaard K, Vissing J, Andersen H.

J Neuromuscul Dis. 2019;6(1):93-97. doi: 10.3233/JND-180344.

PMID:
30507584
37.

Expanding the phenotype of filamin-C-related myofibrillar myopathy.

Borch JS, Eisum AV, Krag T, Vissing J.

Clin Neurol Neurosurg. 2019 Jan;176:30-33. doi: 10.1016/j.clineuro.2018.11.013. Epub 2018 Nov 19.

PMID:
30496909
38.

Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial.

Grunseich C, Miller R, Swan T, Glass DJ, El Mouelhi M, Fornaro M, Petricoul O, Vostiar I, Roubenoff R, Meriggioli MN, Kokkinis A, Guber RD, Budron MS, Vissing J, Soraru G, Mozaffar T, Ludolph A, Kissel JT, Fischbeck KH; BVS857 study group.

Lancet Neurol. 2018 Dec;17(12):1043-1052. doi: 10.1016/S1474-4422(18)30320-X. Epub 2018 Oct 15.

39.

Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression.

Sloth CK, Denti F, Schmitt N, Bentzen BH, Fagerberg C, Vissing J, Gaist D.

Neurol Genet. 2018 Sep 19;4(5):e267. doi: 10.1212/NXG.0000000000000267. eCollection 2018 Oct. No abstract available.

40.

Disease progression and outcome measures in spinobulbar muscular atrophy.

Dahlqvist JR, Fornander F, de Stricker Borch J, Oestergaard ST, Poulsen NS, Vissing J.

Ann Neurol. 2018 Nov;84(5):754-765. doi: 10.1002/ana.25345. Epub 2018 Oct 25.

PMID:
30255951
41.

L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency.

Madsen KL, Preisler N, Rasmussen J, Hedermann G, Olesen JH, Lund AM, Vissing J.

J Clin Endocrinol Metab. 2018 Dec 1;103(12):4580-4588. doi: 10.1210/jc.2018-00953.

PMID:
30219858
42.

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency.

Vissing J, Akman HO, Aasly J, Kahler SG, Bacino CA, DiMauro S, Haller RG.

Neurology. 2018 Sep 11;91(11):e1077-e1082. doi: 10.1212/WNL.0000000000006165. Epub 2018 Aug 15.

PMID:
30111548
43.

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.

44.

BAG3 myopathy is not always associated with cardiomyopathy.

Andersen AG, Fornander F, Schrøder HD, Krag T, Straub V, Duno M, Vissing J.

Neuromuscul Disord. 2018 Sep;28(9):798-801. doi: 10.1016/j.nmd.2018.06.019. Epub 2018 Jul 5.

PMID:
30061062
45.

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.

46.

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.

Abu Bakar N, Voermans NC, Marquardt T, Thiel C, Janssen MCH, Hansikova H, Crushell E, Sykut-Cegielska J, Bowling F, MØrkrid L, Vissing J, Morava E, van Scherpenzeel M, Lefeber DJ.

Transl Res. 2018 Sep;199:62-76. doi: 10.1016/j.trsl.2018.04.008. Epub 2018 May 10.

47.

Muscle contractility of leg muscles in patients with mitochondrial myopathies.

Poulsen NS, Dahlqvist JR, Hedermann G, Løkken N, Vissing J.

Mitochondrion. 2019 May;46:221-227. doi: 10.1016/j.mito.2018.07.001. Epub 2018 Jul 11.

PMID:
30017555
48.

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.

49.
50.

Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform.

Vaeth S, Christensen R, Dunø M, Lildballe DL, Thorsen K, Vissing J, Svenstrup K, Hertz JM, Andersen H, Jensen UB.

Eur J Med Genet. 2019 Jan;62(1):1-8. doi: 10.1016/j.ejmg.2018.04.003. Epub 2018 Apr 11.

PMID:
29653220

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