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Items: 1 to 50 of 296

1.

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 Oct 14. doi: 10.1002/ana.25620. [Epub ahead of print]

PMID:
31610034
2.

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.

Milev MP, Stanga D, Schänzer A, Nascimento A, Saint-Dic D, Ortez C, Benito DN, Barrios DG, Colomer J, Badosa C, Jou C, Gallano P, Gonzalez-Quereda L, Töpf A, Johnson K, Straub V, Hahn A, Sacher M, Jimenez-Mallebrera C.

Sci Rep. 2019 Oct 1;9(1):14036. doi: 10.1038/s41598-019-50415-6.

3.

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. 2019 Sep 25. doi: 10.1007/s00415-019-09539-y. [Epub ahead of print]

PMID:
31555977
4.

Performance of Upper Limb module for Duchenne muscular dystrophy.

Mayhew AG, Coratti G, Mazzone ES, Klingels K, James M, Pane M, Straub V, Goemans N, Mercuri E; Pul Working Group.

Dev Med Child Neurol. 2019 Sep 19. doi: 10.1111/dmcn.14361. [Epub ahead of print]

PMID:
31538331
5.

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
6.

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
7.

ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.

Jarmula A, Łusakowska A, Fichna JP, Topolewska M, Macias A, Johnson K, Töpf A, Straub V, Rosiak E, Szczepaniak K, Dunin-Horkawicz S, Maruszak A, Kaminska AM, Redowicz MJ.

Sci Rep. 2019 Aug 8;9(1):11533. doi: 10.1038/s41598-019-47849-3.

8.

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.

Lemmers RJLF, van der Stoep N, Vliet PJV, Moore SA, San Leon Granado D, Johnson K, Topf A, Straub V, Evangelista T, Mozaffar T, Kimonis V, Shaw ND, Selvatici R, Ferlini A, Voermans N, van Engelen B, Sacconi S, Tawil R, Lamers M, van der Maarel SM.

J Med Genet. 2019 Oct;56(10):693-700. doi: 10.1136/jmedgenet-2019-106168. Epub 2019 Jun 26.

PMID:
31243061
9.

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.

10.

Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES.

De Ridder W, Nelson I, Asselbergh B, De Paepe B, Beuvin M, Ben Yaou R, Masson C, Boland A, Deleuze JF, Maisonobe T, Eymard B, Symoens S, Schindler R, Brand T, Johnson K, Töpf A, Straub V, De Jonghe P, De Bleecker JL, Bonne G, Baets J.

Neurol Genet. 2019 Apr 1;5(2):e321. doi: 10.1212/NXG.0000000000000321. eCollection 2019 Apr.

11.

Rapid Covalent-Probe Discovery by Electrophile-Fragment Screening.

Resnick E, Bradley A, Gan J, Douangamath A, Krojer T, Sethi R, Geurink PP, Aimon A, Amitai G, Bellini D, Bennett J, Fairhead M, Fedorov O, Gabizon R, Gan J, Guo J, Plotnikov A, Reznik N, Ruda GF, Díaz-Sáez L, Straub VM, Szommer T, Velupillai S, Zaidman D, Zhang Y, Coker AR, Dowson CG, Barr HM, Wang C, Huber KVM, Brennan PE, Ovaa H, von Delft F, London N.

J Am Chem Soc. 2019 Jun 5;141(22):8951-8968. doi: 10.1021/jacs.9b02822. Epub 2019 May 22.

12.

Observational study of clinical outcomes for testosterone treatment of pubertal delay in Duchenne muscular dystrophy.

Wood CL, Cheetham TD, Hollingsworth KG, Guglieri M, Ailins-Sahun Y, Punniyakodi S, Mayhew A, Straub V.

BMC Pediatr. 2019 Apr 25;19(1):131. doi: 10.1186/s12887-019-1503-x.

13.

Fractures and Linear Growth in a Nationwide Cohort of Boys With Duchenne Muscular Dystrophy With and Without Glucocorticoid Treatment: Results From the UK NorthStar Database.

Joseph S, Wang C, Bushby K, Guglieri M, Horrocks I, Straub V, Ahmed SF, Wong SC; UK NorthStar Clinical Network.

JAMA Neurol. 2019 Jun 1;76(6):701-709. doi: 10.1001/jamaneurol.2019.0242. Erratum in: JAMA Neurol. 2019 Apr 15;:. JAMA Neurol. 2019 Jun 1;76(6):732.

PMID:
30855644
14.

Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study.

Ricotti V, Selby V, Ridout D, Domingos J, Decostre V, Mayhew A, Eagle M, Butler J, Guglieri M, Van der Holst M, Jansen M, Verschuuren JJGM, de Groot IJM, Niks EH, Servais L, Straub V, Voit T, Hogrel JY, Muntoni F.

Neuromuscul Disord. 2019 Apr;29(4):261-268. doi: 10.1016/j.nmd.2019.02.002. Epub 2019 Feb 19.

PMID:
30852071
15.

236th ENMC International Workshop Bone protective therapy in Duchenne muscular dystrophy: Determining the feasibility and standards of clinical trials Hoofddorp, The Netherlands, 1-3 June 2018.

Wong SC, Straub V, Ward LM, Quinlivan R; 236th ENMC workshop participants.

Neuromuscul Disord. 2019 Mar;29(3):251-259. doi: 10.1016/j.nmd.2019.01.002. Epub 2019 Jan 12. No abstract available.

PMID:
30803852
16.

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.

17.

Exploration of New Contrasts, Targets, and MR Imaging and Spectroscopy Techniques for Neuromuscular Disease - A Workshop Report of Working Group 3 of the Biomedicine and Molecular Biosciences COST Action BM1304 MYO-MRI.

Strijkers GJ, Araujo ECA, Azzabou N, Bendahan D, Blamire A, Burakiewicz J, Carlier PG, Damon B, Deligianni X, Froeling M, Heerschap A, Hollingsworth KG, Hooijmans MT, Karampinos DC, Loudos G, Madelin G, Marty B, Nagel AM, Nederveen AJ, Nelissen JL, Santini F, Scheidegger O, Schick F, Sinclair C, Sinkus R, de Sousa PL, Straub V, Walter G, Kan HE.

J Neuromuscul Dis. 2019;6(1):1-30. doi: 10.3233/JND-180333.

18.

Revised upper limb module for spinal muscular atrophy: 12 month changes.

Pera MC, Coratti G, Mazzone ES, Montes J, Scoto M, De Sanctis R, Main M, Mayhew A, Muni Lofra R, Dunaway Young S, Glanzman AM, Duong T, Pasternak A, Ramsey D, Darras B, Day JW, Finkel RS, De Vivo DC, Sormani MP, Bovis F, Straub V, Muntoni F, Pane M, Mercuri E; iSMAC Consortium Group.

Muscle Nerve. 2019 Apr;59(4):426-430. doi: 10.1002/mus.26419. Epub 2019 Feb 7.

PMID:
30677148
19.

Assessment of disease progression in dysferlinopathy: A 1-year cohort study.

Moore U, Jacobs M, James MK, Mayhew AG, Fernandez-Torron R, Feng J, Cnaan A, Eagle M, Bettinson K, Rufibach LE, Lofra RM, Blamire AM, Carlier PG, Mittal P, Lowes LP, Alfano L, Rose K, Duong T, Berry KM, Montiel-Morillo E, Pedrosa-Hernández I, Holsten S, Sanjak M, Ashida A, Sakamoto C, Tateishi T, Yajima H, Canal A, Ollivier G, Decostre V, Mendez JB, Sánchez-Aguilera Praxedes N, Thiele S, Siener C, Shierbecker J, Florence JM, Vandevelde B, DeWolf B, Hutchence M, Gee R, Prügel J, Maron E, Hilsden H, Lochmüller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Díaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium.

Neurology. 2019 Jan 9. pii: 10.1212/WNL.0000000000006858. doi: 10.1212/WNL.0000000000006858. [Epub ahead of print]

20.

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
21.

Noninvasive quantification of fibrosis in skeletal and cardiac muscle in mdx mice using EP3533 enhanced magnetic resonance imaging.

Murphy AP, Greally E, O'Hogain D, Blamire A, Caravan P, Straub V.

Magn Reson Med. 2019 Apr;81(4):2728-2735. doi: 10.1002/mrm.27578. Epub 2018 Nov 5.

PMID:
30394578
22.

Bones and muscular dystrophies: what do we know?

Wood CL, Straub V.

Curr Opin Neurol. 2018 Oct;31(5):583-591. doi: 10.1097/WCO.0000000000000603. Review.

PMID:
30080716
23.

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
24.

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.

25.

229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.

Straub V, Murphy A, Udd B; LGMD workshop study group.

Neuromuscul Disord. 2018 Aug;28(8):702-710. doi: 10.1016/j.nmd.2018.05.007. Epub 2018 May 24. No abstract available.

PMID:
30055862
26.

Report on the workshop: Meaningful outcome measures for Duchenne muscular dystrophy, London, UK, 30-31 January 2017.

Straub V, Mercuri E; DMD outcome measure study group.

Neuromuscul Disord. 2018 Aug;28(8):690-701. doi: 10.1016/j.nmd.2018.05.013. Epub 2018 Jun 6. No abstract available.

PMID:
30033203
27.

A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement.

Gonzalez-Quereda L, Gallardo E, Töpf A, Alonso-Jimenez A, Straub V, Rodriguez MJ, Lleixa C, Illa I, Gallano P, Diaz-Manera J.

Neuromuscul Disord. 2018 Aug;28(8):633-638. doi: 10.1016/j.nmd.2018.06.002. Epub 2018 Jul 13.

PMID:
30007747
28.

The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

Bugiardini E, Morrow JM, Shah S, Wood CL, Lynch DS, Pitmann AM, Reilly MM, Houlden H, Matthews E, Parton M, Hanna MG, Straub V, Yousry TA.

Front Neurol. 2018 Jun 26;9:456. doi: 10.3389/fneur.2018.00456. eCollection 2018.

29.

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, Graham JM Jr, Lin AE, Brand H, Moore SA, Johnson K, Evangelista T, Töpf A, Straub V, Kapetanovic García S, Sacconi S, Tawil R, Tapscott SJ, Voermans NC, van Engelen BGM, Horlings CGC, Shaw ND, van der Maarel SM.

Neurology. 2018 Aug 7;91(6):e562-e570. doi: 10.1212/WNL.0000000000005958. Epub 2018 Jul 6.

30.

Exposure to multiple career pathways by biomedical doctoral students at a public research university.

Mathur A, Chow CS, Feig AL, Kenaga H, Moldenhauer JA, Muthunayake NS, Ouellett ML, Pence LE, Straub V.

PLoS One. 2018 Jun 22;13(6):e0199720. doi: 10.1371/journal.pone.0199720. eCollection 2018.

31.

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population.

Johnson K, De Ridder W, Töpf A, Bertoli M, Phillips L, De Jonghe P, Baets J, Deconinck T, Rakocevic Stojanovic V, Perić S, Durmus H, Jamal-Omidi S, Nafissi S, Mongini T, Łusakowska A, Busby M, Miller J, Norwood F, Hudson J, Barresi R, Lek M, MacArthur DG, Straub V.

J Neurol Neurosurg Psychiatry. 2019 Apr;90(4):490-493. doi: 10.1136/jnnp-2018-318288. Epub 2018 Jun 19. No abstract available.

32.

Peptide-conjugated phosphodiamidate oligomer-mediated exon skipping has benefits for cardiac function in mdx and Cmah-/-mdx mouse models of Duchenne muscular dystrophy.

Blain AM, Greally E, McClorey G, Manzano R, Betts CA, Godfrey C, O'Donovan L, Coursindel T, Gait MJ, Wood MJ, MacGowan GA, Straub VW.

PLoS One. 2018 Jun 18;13(6):e0198897. doi: 10.1371/journal.pone.0198897. eCollection 2018.

33.

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair.

Strang-Karlsson S, Johnson K, Töpf A, Xu L, Lek M, MacArthur DG, Casar-Borota O, Williams M, Straub V, Wallgren-Pettersson C.

Neuromuscul Disord. 2018 Jul;28(7):614-618. doi: 10.1016/j.nmd.2018.04.012. Epub 2018 May 16.

PMID:
29910097
34.

A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.

Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M.

Trials. 2018 May 10;19(1):291. doi: 10.1186/s13063-018-2645-0. Review.

35.

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.

Diaz-Manera J, Fernandez-Torron R, LLauger J, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Rico Gala S, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero H, Foster SL, Peduto A, Sawyer AM, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium.

J Neurol Neurosurg Psychiatry. 2018 Oct;89(10):1071-1081. doi: 10.1136/jnnp-2017-317488. Epub 2018 May 7.

36.

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.

37.

Tracking disease progression non-invasively in Duchenne and Becker muscular dystrophies.

Spitali P, Hettne K, Tsonaka R, Charrout M, van den Bergen J, Koeks Z, Kan HE, Hooijmans MT, Roos A, Straub V, Muntoni F, Al-Khalili-Szigyarto C, Koel-Simmelink MJA, Teunissen CE, Lochmüller H, Niks EH, Aartsma-Rus A.

J Cachexia Sarcopenia Muscle. 2018 Aug;9(4):715-726. doi: 10.1002/jcsm.12304. Epub 2018 Apr 16.

38.

Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients.

Catapano F, Domingos J, Perry M, Ricotti V, Phillips L, Servais L, Seferian A, Groot I, Krom YD, Niks EH, Verschuuren JJ, Straub V, Voit T, Morgan J, Muntoni F.

Epigenomics. 2018 Jul;10(7):875-889. doi: 10.2217/epi-2018-0022. Epub 2018 Mar 22.

PMID:
29564913
39.

Psychometric analysis of the pediatric quality of life inventory 3.0 neuromuscular module administered to patients with duchenne muscular dystrophy: A rasch analysis.

Landfeldt E, Mayhew A, Straub V, Lochmüller H, Bushby K, Lindgren P.

Muscle Nerve. 2018 Sep;58(3):367-373. doi: 10.1002/mus.26109. Epub 2018 Mar 25.

PMID:
29466827
40.

Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.

Sarkozy A, Torelli S, Mein R, Henderson M, Phadke R, Feng L, Sewry C, Ala P, Yau M, Bertoli M, Willis T, Hammans S, Manzur A, Sframeli M, Norwood F, Rakowicz W, Radunovic A, Vaidya SS, Parton M, Walker M, Marino S, Offiah C, Farrugia ME, Mamutse G, Marini-Bettolo C, Wraige E, Beeson D, Lochmüller H, Straub V, Bushby K, Barresi R, Muntoni F.

J Neurol Neurosurg Psychiatry. 2018 Jul;89(7):762-768. doi: 10.1136/jnnp-2017-316956. Epub 2018 Feb 3.

PMID:
29437916
41.

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.

Moore UR, Jacobs M, Fernandez-Torron R, Jang J, James MK, Mayhew A, Rufibach L, Mittal P, Eagle M, Cnaan A, Carlier PG, Blamire A, Hilsden H, Lochmüller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Diaz-Manera J, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V.

J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1224-1226. doi: 10.1136/jnnp-2017-317329. Epub 2018 Jan 29. No abstract available.

42.

The effects of ageing on mouse muscle microstructure: a comparative study of time-dependent diffusion MRI and histological assessment.

Porcari P, Hall MG, Clark CA, Greally E, Straub V, Blamire AM.

NMR Biomed. 2018 Mar;31(3). doi: 10.1002/nbm.3881. Epub 2018 Jan 9.

PMID:
29315904
43.

Psychometric properties of the Zarit Caregiver Burden Interview administered to caregivers to patients with Duchenne muscular dystrophy: a Rasch analysis.

Landfeldt E, Mayhew A, Straub V, Bushby K, Lochmüller H, Lindgren P.

Disabil Rehabil. 2019 Apr;41(8):966-973. doi: 10.1080/09638288.2017.1416501. Epub 2017 Dec 18.

PMID:
29254382
44.

Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046].

Van den Bergh PYK, Sznajer Y, Van Parys V, van Tol W, Wevers RA, Lefeber DJ, Xu L, Lek M, MacArthur DG, Johnson K, Phillips L, Töpf A, Straub V.

Neuromuscul Disord. 2018 Jan;28(1):101. doi: 10.1016/j.nmd.2017.11.012. Epub 2017 Dec 12. No abstract available.

PMID:
29246662
45.

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