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Items: 1 to 50 of 678

1.

Longitudinal natural history in young boys with Duchenne muscular dystrophy.

Coratti G, Brogna C, Norcia G, Ricotti V, Abbott L, D'Amico A, Berardinelli A, Vita GL, Lucibello S, Messina S, Sansone V, Albamonte E, Colia G, Salmin F, Gardani A, Manzur A, Main M, Baranello G, Arnoldi MT, Parsons J, Carry T, Connolly AM, Bertini E, Muntoni F, Pane M, Mercuri E.

Neuromuscul Disord. 2019 Sep 26. pii: S0960-8966(19)31130-7. doi: 10.1016/j.nmd.2019.09.010. [Epub ahead of print]

PMID:
31629611
2.

Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development.

Krieger TG, Moran CM, Frangini A, Visser WE, Schoenmakers E, Muntoni F, Clark CA, Gadian D, Chong WK, Kuczynski A, Dattani M, Lyons G, Efthymiadou A, Varga-Khadem F, Simons BD, Chatterjee K, Livesey FJ.

Proc Natl Acad Sci U S A. 2019 Oct 18. pii: 201908762. doi: 10.1073/pnas.1908762116. [Epub ahead of print]

3.

A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycan.

Kim J, Lana B, Torelli S, Ryan D, Catapano F, Ala P, Luft C, Stevens E, Konstantinidis E, Louzada S, Fu B, Paredes-Redondo A, Chan AE, Yang F, Stemple DL, Liu P, Ketteler R, Selwood DL, Muntoni F, Lin YY.

EMBO Rep. 2019 Sep 30:e47967. doi: 10.15252/embr.201947967. [Epub ahead of print]

4.

Development of an academic disease registry for spinal muscular atrophy.

Mercuri E, Finkel R, Scoto M, Hall S, Eaton S, Rashid A, Balashkina J, Coratti G, Pera MC, Samsuddin S, Civitello M, Muntoni F; iSMAC Group.

Neuromuscul Disord. 2019 Aug 29. pii: S0960-8966(19)31105-8. doi: 10.1016/j.nmd.2019.08.014. [Epub ahead of print]

PMID:
31558335
5.

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.

Graham RJ, Muntoni F, Hughes I, Yum SW, Kuntz NL, Yang ML, Byrne BJ, Prasad S, Alvarez R, Genetti CA, Haselkorn T, James ES, LaRusso LB, Noursalehi M, Rico S, Beggs AH.

Arch Dis Child. 2019 Sep 4. pii: archdischild-2019-317910. doi: 10.1136/archdischild-2019-317910. [Epub ahead of print]

PMID:
31484632
6.

Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy.

Muntoni F, Domingos J, Manzur AY, Mayhew A, Guglieri M; UK NorthStar Network, Sajeev G, Signorovitch J, Ward SJ.

PLoS One. 2019 Sep 3;14(9):e0221097. doi: 10.1371/journal.pone.0221097. eCollection 2019.

7.

240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25-27 January 2019, Hoofddorp, The Netherlands.

Morgan J, Butler-Browne G, Muntoni F, Patel K; skeletal muscle stem cells involvement in pathology study group.

Neuromuscul Disord. 2019 Sep;29(9):704-715. doi: 10.1016/j.nmd.2019.07.003. Epub 2019 Jul 16. No abstract available.

PMID:
31447279
8.

Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry.

Muntoni F, Desguerre I, Guglieri M, Osorio AN, Kirschner J, Tulinius M, Buccella F, Elfring G, Werner C, Schilling T, Trifillis P, Zhang O, Delage A, Santos CL, Mercuri E.

J Comp Eff Res. 2019 Aug 15. doi: 10.2217/cer-2019-0086. [Epub ahead of print]

9.

Muscle biopsies in clinical trials for Duchenne muscular dystrophy - Patients' and caregivers' perspective.

Verhaart IEC, Johnson A, Thakrar S, Vroom E, De Angelis F, Muntoni F, Aartsma-Rus AM, Niks EH.

Neuromuscul Disord. 2019 Aug;29(8):576-584. doi: 10.1016/j.nmd.2019.06.004. Epub 2019 Jun 12.

10.

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.

Brogna C, Coratt G, Pane M, Ricotti V, Messina S, D'Amico A, Bruno C, Vita G, Berardinelli A, Mazzone E, Magri F, Ricci F, Mongini T, Battini R, Bello L, Pegoraro E, Baranello G, Previtali SC, Politano L, Comi GP, Sansone VA, Donati A, Bertini E, Muntoni F, Goemans N, Mercuri E; on behalf on the International DMD group.

PLoS One. 2019 Jul 31;14(7):e0220714. doi: 10.1371/journal.pone.0220714. eCollection 2019.

11.

Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy.

Montes J, Dunaway Young S, Mazzone ES, Pasternak A, Glanzman AM, Finkel RS, Darras BT, Muntoni F, Mercuri E, De Vivo DC, Bishop KM, Schneider E, Bennett CF, Foster R, Farwell W; CS2 and CS12 Study Groups.

Muscle Nerve. 2019 Oct;60(4):409-414. doi: 10.1002/mus.26633. Epub 2019 Jul 27.

12.

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.

Brogna C, Coratti G, Pane M, Ricotti V, Messina S, D'Amico A, Bruno C, Vita G, Berardinelli A, Mazzone E, Magri F, Ricci F, Mongini T, Battini R, Bello L, Pegoraro E, Baranello G, Previtali SC, Politano L, Comi GP, Sansone VA, Donati A, Bertini E, Muntoni F, Goemans N, Mercuri E; on behalf on the International DMD group.

PLoS One. 2019 Jun 25;14(6):e0218683. doi: 10.1371/journal.pone.0218683. eCollection 2019. Erratum in: PLoS One. 2019 Jul 31;14(7):e0220714.

13.

Neurofilament as a potential biomarker for spinal muscular atrophy.

Darras BT, Crawford TO, Finkel RS, Mercuri E, De Vivo DC, Oskoui M, Tizzano EF, Ryan MM, Muntoni F, Zhao G, Staropoli J, McCampbell A, Petrillo M, Stebbins C, Fradette S, Farwell W, Sumner CJ.

Ann Clin Transl Neurol. 2019 Apr 17;6(5):932-944. doi: 10.1002/acn3.779. eCollection 2019 May.

14.

A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement.

Ardicli D, Sarkozy A, Zaharieva I, Deshpande C, Bodi I, Siddiqui A, U-King-Im JM, Selfe A, Phadke R, Jungbluth H, Muntoni F.

Neuromuscul Disord. 2019 Jun;29(6):448-455. doi: 10.1016/j.nmd.2019.03.011. Epub 2019 Mar 27.

PMID:
31130378
15.

Therapeutic Aspects in Congenital Myopathies.

Jungbluth H, Muntoni F.

Semin Pediatr Neurol. 2019 Apr;29:71-82. doi: 10.1016/j.spen.2019.01.004. Epub 2019 Jan 16.

PMID:
31060727
16.

Balance impairment in pediatric charcot-marie-tooth disease.

Estilow T, Glanzman AM, Burns J, Harrington A, Cornett K, Menezes MP, Shy R, Moroni I, Pagliano E, Pareyson D, Bhandari T, Muntoni F, Laurá M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Troutman G, Bray P, Halaki M, Shy ME, Yum SW; CMTPedS STUDY GROUP.

Muscle Nerve. 2019 Sep;60(3):242-249. doi: 10.1002/mus.26500. Epub 2019 May 15.

PMID:
31026080
17.

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
18.

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.

Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Chen GS, Sizov K, Nalls M, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou C, Jimenez-Mallebrera C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E; COL6A1 Intron 11 Study Group, Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F, Bönnemann CG.

JCI Insight. 2019 Mar 21;4(6). pii: 124403. doi: 10.1172/jci.insight.124403. eCollection 2019 Mar 21.

19.

Exome sequencing in Crisponi/cold-induced sweating syndrome-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 May;95(5):607-614. doi: 10.1111/cge.13532. Epub 2019 Mar 28.

PMID:
30859550
20.

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
21.

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 Jun 1;28(11):1872-1884. doi: 10.1093/hmg/ddz025.

PMID:
30689883
22.

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
23.

Clinical features of facioscapulohumeral muscular dystrophy 1 in childhood.

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

Dev Med Child Neurol. 2019 Aug;61(8):964-971. doi: 10.1111/dmcn.14142. Epub 2019 Jan 20.

PMID:
30663041
24.

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 Oct;8(7):922-933. doi: 10.1002/cpdd.642. Epub 2019 Jan 16.

PMID:
30650257
25.

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.

26.

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.

27.

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
28.

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.

29.

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.

30.

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.

31.

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
32.

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.

33.

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
34.

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
35.

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
36.

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
37.

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.

38.

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.

39.

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
40.

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.

41.

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.

42.

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
43.

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.

44.

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.

45.

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.

46.

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
47.

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
48.

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
49.

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.

50.

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

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