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Items: 1 to 50 of 660

1.

Exome sequencing in Crisponi/CISS-like individuals reveals unpredicted alternative diagnoses.

Angius A, Uva P, Oppo M, Buers I, Persico I, Onano S, Cuccuru G, Van Allen MI, Hulait G, Aubertin G, Muntoni F, Fry AE, Annerén G, Stattin EL, Palomares-Bralo M, Santos-Simarro F, Cucca F, Crisponi G, Rutsch F, Crisponi L.

Clin Genet. 2019 Mar 12. doi: 10.1111/cge.13532. [Epub ahead of print]

PMID:
30859550
2.

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 Feb 19. pii: S0960-8966(18)31379-8. doi: 10.1016/j.nmd.2019.02.002. [Epub ahead of print]

PMID:
30852071
3.

Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.

Elbaz M, Ruiz A, Eckhardt J, Pelczar P, Muntoni F, Boncompagni S, Treves S, Zorzato F.

Hum Mol Genet. 2019 Jan 25. doi: 10.1093/hmg/ddz025. [Epub ahead of print]

PMID:
30689883
4.

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
5.

Clinical features of facioscapulohumeral muscular dystrophy 1 in childhood.

Steel D, Main M, Manzur A, Muntoni F, Munot P.

Dev Med Child Neurol. 2019 Jan 20. doi: 10.1111/dmcn.14142. [Epub ahead of print]

PMID:
30663041
6.

A Phase 1b Trial to Assess the Pharmacokinetics of Ezutromid in Pediatric Duchenne Muscular Dystrophy Patients on a Balanced Diet.

Muntoni F, Tejura B, Spinty S, Roper H, Hughes I, Layton G, Davies KE, Harriman S, Tinsley J.

Clin Pharmacol Drug Dev. 2019 Jan 16. doi: 10.1002/cpdd.642. [Epub ahead of print]

PMID:
30650257
7.

Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology.

Aartsma-Rus A, Morgan J, Lonkar P, Neubert H, Owens J, Binks M, Montolio M, Phadke R, Datson N, Van Deutekom J, Morris GE, Rao VA, Hoffman EP, Muntoni F, Arechavala-Gomeza V; workshop participants.

J Neuromuscul Dis. 2019;6(1):147-159. doi: 10.3233/JND-180357.

8.

Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol study.

Bourke JP, Watson G, Muntoni F, Spinty S, Roper H, Guglieri M, Speed C, McColl E, Chikermane A, Jayawant S, Adwani S, Willis T, Wilkinson J, Bryant A, Chadwick T, Wood R, Bushby K; DMD Heart Protection study group.

BMJ Open. 2018 Dec 19;8(12):e022572. doi: 10.1136/bmjopen-2018-022572.

9.

Electromyography and muscle biopsy in paediatric neuromuscular disorders - Evaluation of current practice and literature review.

Hafner P, Phadke R, Manzur A, Smith R, Jaiser S, Schutz P, Sewry C, Muntoni F, Pitt M.

Neuromuscul Disord. 2019 Jan;29(1):14-20. doi: 10.1016/j.nmd.2018.10.003. Epub 2018 Oct 31.

PMID:
30559040
10.

Publisher Correction: Necroptosis mediates myofibre death in dystrophin-deficient mice.

Morgan JE, Prola A, Mariot V, Pini V, Meng J, Hourde C, Dumonceaux J, Conti F, Relaix F, Authier FJ, Tiret L, Muntoni F, Bencze M.

Nat Commun. 2018 Oct 2;9(1):4107. doi: 10.1038/s41467-018-06636-w.

11.

A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures.

Hiller M, Falzarano MS, Garcia-Jimenez I, Sardone V, Verheul RC, Popplewell L, Anthony K, Ruiz-Del-Yerro E, Osman H, Goeman JJ, Mamchaoui K, Dickson G, Ferlini A, Muntoni F, Aartsma-Rus A, Arechavala-Gomeza V, Datson NA, Spitali P.

PLoS One. 2018 Oct 2;13(10):e0204485. doi: 10.1371/journal.pone.0204485. eCollection 2018.

12.

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network.

Orphanet J Rare Dis. 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x.

13.

Bi-allelic mutations in MYL1 cause a severe congenital myopathy.

Ravenscroft G, Zaharieva IT, Bortolotti CA, Lambrughi M, Pignataro M, Borsari M, Sewry CA, Phadke R, Haliloglu G, Ong R, Goullée H, Whyte T, Consortium UK, Manzur A, Talim B, Kaya U, Osborn DPS, Forrest ARR, Laing NG, Muntoni F.

Hum Mol Genet. 2018 Dec 15;27(24):4263-4272. doi: 10.1093/hmg/ddy320.

PMID:
30215711
14.

Necroptosis mediates myofibre death in dystrophin-deficient mice.

Morgan JE, Prola A, Mariot V, Pini V, Meng J, Hourde C, Dumonceaux J, Conti F, Relaix F, Authier FJ, Tiret L, Muntoni F, Bencze M.

Nat Commun. 2018 Sep 7;9(1):3655. doi: 10.1038/s41467-018-06057-9. Erratum in: Nat Commun. 2018 Oct 2;9(1):4107.

15.

Morpholino-Mediated Exon Inclusion for SMA.

Zhou H, Muntoni F.

Methods Mol Biol. 2018;1828:467-477. doi: 10.1007/978-1-4939-8651-4_29.

PMID:
30171560
16.

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.

Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C, Williams G, Holder M, Yum S, Medne L, Quijano-Roy S, Romero NB, Fauré J, Feng L, Bastaki L, Davis MR, Phadke R, Sewry CA, Bönnemann CG, Jungbluth H, Bachmann C, Treves S, Muntoni F.

Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11.

PMID:
30168660
17.

ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.

Ullmann U, D'Argenzio L, Mathur S, Whyte T, Quinlivan R, Longman C, Farrugia ME, Manzur A, Willis T, Jungbluth H, Pitt M, Cirak S; UK10K consortium, Feng L, Stewart W, Mein R, Phadke R, Sewry C, Sarkozy A, Muntoni F.

Neuromuscul Disord. 2018 Sep;28(9):741-749. doi: 10.1016/j.nmd.2018.05.012. Epub 2018 Jun 30.

PMID:
30131190
18.

Genetic therapies for inherited neuromuscular disorders.

Scoto M, Finkel R, Mercuri E, Muntoni F.

Lancet Child Adolesc Health. 2018 Aug;2(8):600-609. doi: 10.1016/S2352-4642(18)30140-8. Epub 2018 Jun 27. Review.

PMID:
30119719
19.

Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy.

Silwal A, Pitt M, Phadke R, Mankad K, Davison JE, Rossor A, DeVile C, Reilly MM, Manzur AY, Muntoni F, Munot P.

Neuromuscul Disord. 2018 Sep;28(9):757-765. doi: 10.1016/j.nmd.2018.06.001. Epub 2018 Jun 12.

PMID:
30072201
20.

Ambulatory function in spinal muscular atrophy: Age-related patterns of progression.

Montes J, McDermott MP, Mirek E, Mazzone ES, Main M, Glanzman AM, Duong T, Young SD, Salazar R, Pasternak A, Gee R, De Sanctis R, Coratti G, Forcina N, Fanelli L, Ramsey D, Milev E, Civitello M, Pane M, Pera MC, Scoto M, Day JW, Tennekoon G, Finkel RS, Darras BT, Muntoni F, De Vivo DC, Mercuri E.

PLoS One. 2018 Jun 26;13(6):e0199657. doi: 10.1371/journal.pone.0199657. eCollection 2018.

21.

Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function.

Salazar R, Montes J, Dunaway Young S, McDermott MP, Martens W, Pasternak A, Quigley J, Mirek E, Glanzman AM, Civitello M, Gee R, Duong T, Mazzone ES, Main M, Mayhew A, Ramsey D, Muni Lofra R, Coratti G, Fanelli L, De Sanctis R, Forcina N, Chiriboga C, Darras BT, Tennekoon GI, Scoto M, Day JW, Finkel R, Muntoni F, Mercuri E, De Vivo DC.

Pediatr Phys Ther. 2018 Jul;30(3):209-215. doi: 10.1097/PEP.0000000000000515.

PMID:
29924070
22.

Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients.

Lochmüller H, Evans D, Farwell W, Finkel R, Goemans N, de Lemus M, Matyushenko V, Muntoni F, Ouillade MC, Schwersenz I, Wilson P.

J Neuromuscul Dis. 2018;5(2):131-133. doi: 10.3233/JND-180325. No abstract available.

23.

CD133+ cells derived from skeletal muscles of Duchenne muscular dystrophy patients have a compromised myogenic and muscle regenerative capability.

Meng J, Muntoni F, Morgan J.

Stem Cell Res. 2018 Jul;30:43-52. doi: 10.1016/j.scr.2018.05.004. Epub 2018 May 12.

24.

Acetazolamide can improve symptoms and signs in ion channel-related congenital myopathy.

Matthews E, Hartley L, Sud R, Hanna MG, Muntoni F, Munot P.

J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):243-245. doi: 10.1136/jnnp-2017-317849. Epub 2018 May 16. No abstract available.

PMID:
29769250
25.

Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients.

Suman M, Sharpe JA, Bentham RB, Kotiadis VN, Menegollo M, Pignataro V, Molgó J, Muntoni F, Duchen MR, Pegoraro E, Szabadkai G.

Hum Mol Genet. 2018 Jul 1;27(13):2367-2382. doi: 10.1093/hmg/ddy149.

26.

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.

27.

A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples.

Sardone V, Ellis M, Torelli S, Feng L, Chambers D, Eastwood D, Sewry C, Phadke R, Morgan JE, Muntoni F.

PLoS One. 2018 Mar 26;13(3):e0194540. doi: 10.1371/journal.pone.0194540. eCollection 2018.

28.

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
29.

NINDS Common Data Elements for Congenital Muscular Dystrophy Clinical Research: A National Institute for Neurological Disorders and Stroke Project.

Lawlor MW, Iannaccone ST, Mathews K, Muntoni F, Alai-Hansen S, Odenkirchen JC, S Feldman R; CMD Working Group.

J Neuromuscul Dis. 2018;5(1):75-84. doi: 10.3233/JND-170248.

PMID:
29480213
30.

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
31.

Semi-Automated Analysis of Diaphragmatic Motion with Dynamic Magnetic Resonance Imaging in Healthy Controls and Non-Ambulant Subjects with Duchenne Muscular Dystrophy.

Bishop CA, Ricotti V, Sinclair CDJ, Evans MRB, Butler JW, Morrow JM, Hanna MG, Matthews PM, Yousry TA, Muntoni F, Thornton JS, Newbould RD, Janiczek RL.

Front Neurol. 2018 Jan 26;9:9. doi: 10.3389/fneur.2018.00009. eCollection 2018.

32.

Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.

Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C, Phadke R, Gautel M, Muntoni F.

Nat Rev Neurol. 2018 Mar;14(3):151-167. doi: 10.1038/nrneurol.2017.191. Epub 2018 Feb 2. Review.

PMID:
29391587
33.

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.

34.

Severe persistent injection site reactions after subcutaneous 2'-O-methyl phosphorothioate oligonucleotide therapy for Duchenne muscular dystrophy.

Domingos J, Ricotti V, Martinez AE, Muntoni F.

Neuromuscul Disord. 2018 Feb;28(2):176-177. doi: 10.1016/j.nmd.2017.11.015. Epub 2017 Nov 28. No abstract available.

PMID:
29305134
35.

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.

36.

Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne.

Lourbakos A, Yau N, de Bruijn P, Hiller M, Kozaczynska K, Jean-Baptiste R, Reza M, Wolterbeek R, Koeks Z, Ayoglu B, de Klerk D, Campion G, Zaharieva I, Nadarajah VD, Nilsson P, Al-Khalili Szigyarto C, Muntoni F, Lochmüller H, Verschuuren JJ, Goemans N, Tulinius M, Niks EH, de Kimpe S, Aartsma-Rus A, 't Hoen PAC, Spitali P.

Sci Rep. 2017 Dec 20;7(1):17888. doi: 10.1038/s41598-017-17982-y.

37.

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches.

Mariot V, Joubert R, Hourdé C, Féasson L, Hanna M, Muntoni F, Maisonobe T, Servais L, Bogni C, Le Panse R, Benvensite O, Stojkovic T, Machado PM, Voit T, Buj-Bello A, Dumonceaux J.

Nat Commun. 2017 Nov 30;8(1):1859. doi: 10.1038/s41467-017-01486-4.

38.

Outcome measures in Duchenne muscular dystrophy: sensitivity to change, clinical meaningfulness, and implications for clinical trials.

Domingos J, Muntoni F.

Dev Med Child Neurol. 2018 Feb;60(2):117. doi: 10.1111/dmcn.13634. Epub 2017 Nov 27. No abstract available.

39.

In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology.

Bernabò P, Tebaldi T, Groen EJN, Lane FM, Perenthaler E, Mattedi F, Newbery HJ, Zhou H, Zuccotti P, Potrich V, Shorrock HK, Muntoni F, Quattrone A, Gillingwater TH, Viero G.

Cell Rep. 2017 Oct 24;21(4):953-965. doi: 10.1016/j.celrep.2017.10.010.

40.

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.

Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, Pope S, Pandraud A, Horga A, Scalco RS, Li A, Ashokkumar B, Lourenço CM, Heales S, Horvath R, Chinnery PF, Toro C, Singleton AB, Jacques TS, Abramov AY, Muntoni F, Hanna MG, Reilly MM, Revesz T, Kullmann DM, Jepson JEC, Houlden H.

Brain. 2017 Nov 1;140(11):2820-2837. doi: 10.1093/brain/awx231.

41.

Lancet Commission: Stem cells and regenerative medicine.

Cossu G, Birchall M, Brown T, De Coppi P, Culme-Seymour E, Gibbon S, Hitchcock J, Mason C, Montgomery J, Morris S, Muntoni F, Napier D, Owji N, Prasad A, Round J, Saprai P, Stilgoe J, Thrasher A, Wilson J.

Lancet. 2018 Mar 3;391(10123):883-910. doi: 10.1016/S0140-6736(17)31366-1. Epub 2017 Oct 4. Review. No abstract available. Erratum in: Lancet. 2018 Mar 10;391(10124):e8.

PMID:
28987452
42.

Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy.

Marrosu E, Ala P, Muntoni F, Zhou H.

Mol Ther Nucleic Acids. 2017 Sep 15;8:416-427. doi: 10.1016/j.omtn.2017.07.006. Epub 2017 Jul 8.

43.

MRI in sarcoglycanopathies: a large international cohort study.

Tasca G, Monforte M, Díaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Løkken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlová J, Magnano G, Walter MC, Quijano-Roy S, Carlier RY, van Engelen BGM, Vissing J, Straub V, Bönnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C.

J Neurol Neurosurg Psychiatry. 2018 Jan;89(1):72-77. doi: 10.1136/jnnp-2017-316736. Epub 2017 Sep 9.

PMID:
28889091
44.

MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide.

Reza M, Cox D, Phillips L, Johnson D, Manoharan V, Grieves M, Davis B, Roos A, Morgan J, Hanna MG, Muntoni F, Lochmüller H.

Neuromuscul Disord. 2017 Nov;27(11):1054-1064. doi: 10.1016/j.nmd.2017.07.001. Epub 2017 Jul 10.

45.

Erratum: Lentiviral vectors can be used for full-length dystrophin gene therapy.

Counsell JR, Asgarian Z, Meng J, Ferrer V, Vink CA, Howe SJ, Waddington SN, Thrasher AJ, Muntoni F, Morgan JE, Danos O.

Sci Rep. 2017 Aug 29;7:46880. doi: 10.1038/srep46880.

46.

Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues.

Aartsma-Rus A, Straub V, Hemmings R, Haas M, Schlosser-Weber G, Stoyanova-Beninska V, Mercuri E, Muntoni F, Sepodes B, Vroom E, Balabanov P.

Nucleic Acid Ther. 2017 Oct;27(5):251-259. doi: 10.1089/nat.2017.0682. Epub 2017 Aug 10. Review.

47.

Natural history of Charcot-Marie-Tooth disease during childhood.

Cornett KMD, Menezes MP, Shy RR, Moroni I, Pagliano E, Pareyson D, Estilow T, Yum SW, Bhandari T, Muntoni F, Laura M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Bray P, Halaki M, Shy ME, Burns J; CMTPedS Study Group.

Ann Neurol. 2017 Sep;82(3):353-359. doi: 10.1002/ana.25009.

PMID:
28796392
48.

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
49.

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.

Sframeli M, Sarkozy A, Bertoli M, Astrea G, Hudson J, Scoto M, Mein R, Yau M, Phadke R, Feng L, Sewry C, Fen ANS, Longman C, McCullagh G, Straub V, Robb S, Manzur A, Bushby K, Muntoni F.

Neuromuscul Disord. 2017 Sep;27(9):793-803. doi: 10.1016/j.nmd.2017.06.008. Epub 2017 Jun 16.

PMID:
28688748
50.

Autoantibodies in juvenile-onset myositis: Their diagnostic value and associated clinical phenotype in a large UK cohort.

Tansley SL, Simou S, Shaddick G, Betteridge ZE, Almeida B, Gunawardena H, Thomson W, Beresford MW, Midgley A, Muntoni F, Wedderburn LR, McHugh NJ.

J Autoimmun. 2017 Nov;84:55-64. doi: 10.1016/j.jaut.2017.06.007. Epub 2017 Jun 26.

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