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Items: 1 to 50 of 155

1.

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.

2.

Retrospective natural history of thymidine kinase 2 deficiency.

Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M.

J Med Genet. 2018 Mar 30. pii: jmedgenet-2017-105012. doi: 10.1136/jmedgenet-2017-105012. [Epub ahead of print]

3.

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy.

O'Connor E, Vandrovcova J, Bugiardini E, Chelban V, Manole A, Davagnanam I, Wiethoff S, Pittman A, Lynch DS, Efthymiou S, Marino S, Manzur AY, Roberts M, Hanna MG, Houlden H, Matthews E, Wood NW.

J Neurol Neurosurg Psychiatry. 2018 Feb 22. pii: jnnp-2017-317581. doi: 10.1136/jnnp-2017-317581. [Epub ahead of print] No abstract available.

4.

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
5.

Case of paediatric neuromuscular disease with a surprising clinical outcome: time to challenge the dogma?

Wright M, Manzur A, Bush A.

Thorax. 2018 Aug;73(8):788-790. doi: 10.1136/thoraxjnl-2017-211058. Epub 2018 Jan 30. No abstract available.

6.

Nanotechnologies in Pancreatic Cancer Therapy.

Manzur A, Oluwasanmi A, Moss D, Curtis A, Hoskins C.

Pharmaceutics. 2017 Sep 25;9(4). pii: E39. doi: 10.3390/pharmaceutics9040039. Review.

7.

Diels Alder-mediated release of gemcitabine from hybrid nanoparticles for enhanced pancreatic cancer therapy.

Oluwasanmi A, Al-Shakarchi W, Manzur A, Aldebasi MH, Elsini RS, Albusair MK, Haxton KJ, Curtis ADM, Hoskins C.

J Control Release. 2017 Nov 28;266:355-364. doi: 10.1016/j.jconrel.2017.09.027. Epub 2017 Sep 22.

PMID:
28943195
8.

Teatcups with automatic valves in machine milking of goats.

Manzur A, Díaz JR, Fernández N, Balasch S, Peris C.

J Dairy Res. 2018 Feb;85(1):64-69. doi: 10.1017/S0022029917000565. Epub 2017 Sep 22. No abstract available.

PMID:
28934997
9.

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
10.

Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.

Matthews E, Silwal A, Sud R, Hanna MG, Manzur AY, Muntoni F, Munot P.

J Pediatr. 2017 Sep;188:181-185.e6. doi: 10.1016/j.jpeds.2017.05.081. Epub 2017 Jun 26.

PMID:
28662944
11.

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

Giunta C, Baumann M, Fauth C, Lindert U, Abdalla EM, Brady AF, Collins J, Dastgir J, Donkervoort S, Ghali N, Johnson DS, Kariminejad A, Koch J, Kraenzlin M, Lahiri N, Lozic B, Manzur AY, Morton JEV, Pilch J, Pollitt RC, Schreiber G, Shannon NL, Sobey G, Vandersteen A, van Dijk FS, Witsch-Baumgartner M, Zschocke J, Pope FM, Bönnemann CG, Rohrbach M.

Genet Med. 2018 Jan;20(1):42-54. doi: 10.1038/gim.2017.70. Epub 2017 Jun 15.

12.

Efficacy of β-Lactam/β-Lactamase Inhibitor Combinations for the Treatment of Bloodstream Infection Due to Extended-Spectrum-β-Lactamase-Producing Enterobacteriaceae in Hematological Patients with Neutropenia.

Gudiol C, Royo-Cebrecos C, Abdala E, Akova M, Álvarez R, Maestro-de la Calle G, Cano A, Cervera C, Clemente WT, Martín-Dávila P, Freifeld A, Gómez L, Gottlieb T, Gurguí M, Herrera F, Manzur A, Maschmeyer G, Meije Y, Montejo M, Peghin M, Rodríguez-Baño J, Ruiz-Camps I, Sukiennik TC, Tebe C, Carratalà J; BICAR Study Group.

Antimicrob Agents Chemother. 2017 Jul 25;61(8). pii: e00164-17. doi: 10.1128/AAC.00164-17. Print 2017 Aug.

13.

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

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

Contemp Clin Trials. 2017 Jul;58:34-39. doi: 10.1016/j.cct.2017.04.008. Epub 2017 Apr 24.

PMID:
28450193
14.

Echinocandins Compared to Fluconazole for Candidemia of a Urinary Tract Source: A Propensity Score Analysis.

Cuervo G, Garcia-Vidal C, Puig-Asensio M, Vena A, Meije Y, Fernández-Ruiz M, González-Barberá E, Blanco-Vidal MJ, Manzur A, Cardozo C, Gudiol C, Montejo JM, Pemán J, Ayats J, Aguado JM, Muñoz P, Marco F, Almirante B, Carratalà J; for Grupo de Estudio de Micología Médica (GEMICOMED), Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica (SEIMC); and Red Española de Investigación en Patología Infecciosa (REIPI).

Clin Infect Dis. 2017 May 15;64(10):1374-1379. doi: 10.1093/cid/cix033.

PMID:
28329281
15.

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.

Salpietro V, Lin W, Delle Vedove A, Storbeck M, Liu Y, Efthymiou S, Manole A, Wiethoff S, Ye Q, Saggar A, McElreavey K, Krishnakumar SS; SYNAPS Study Group, Pitt M, Bello OD, Rothman JE, Basel-Vanagaite L, Hubshman MW, Aharoni S, Manzur AY, Wirth B, Houlden H.

Ann Neurol. 2017 Apr;81(4):597-603. doi: 10.1002/ana.24905. Epub 2017 Mar 29.

16.

The Clinical Significance of Specific Antibody Deficiency (SAD) Severity in Chronic Rhinosinusitis (CRS).

Keswani A, Dunn NM, Manzur A, Kashani S, Bossuyt X, Grammer LC, Conley DB, Tan BK, Kern RC, Schleimer RP, Peters AT.

J Allergy Clin Immunol Pract. 2017 Jul - Aug;5(4):1105-1111. doi: 10.1016/j.jaip.2016.11.033. Epub 2017 Jan 26.

17.

Clinical efficacy of β-lactam/β-lactamase inhibitor combinations for the treatment of bloodstream infection due to extended-spectrum β-lactamase-producing Enterobacteriaceae in haematological patients with neutropaenia: a study protocol for a retrospective observational study (BICAR).

Gudiol C, Royo-Cebrecos C, Tebe C, Abdala E, Akova M, Álvarez R, Maestro-de la Calle G, Cano A, Cervera C, Clemente WT, Martín-Dávila P, Freifeld A, Gómez L, Gottlieb T, Gurguí M, Herrera F, Manzur A, Maschmeyer G, Meije Y, Montejo M, Peghin M, Rodríguez-Baño J, Ruiz-Camps I, Sukiennik TC, Carratalà J; BICAR study group.

BMJ Open. 2017 Jan 23;7(1):e013268. doi: 10.1136/bmjopen-2016-013268.

18.

Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.

Bachmann C, Jungbluth H, Muntoni F, Manzur AY, Zorzato F, Treves S.

Hum Mol Genet. 2017 Jan 15;26(2):320-332. doi: 10.1093/hmg/ddw388.

PMID:
28007904
19.

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.

Horga A, Tomaselli PJ, Gonzalez MA, Laurà M, Muntoni F, Manzur AY, Hanna MG, Blake JC, Houlden H, Züchner S, Reilly MM.

Neurology. 2016 Oct 11;87(15):1607-1612. Epub 2016 Sep 14. Review.

20.

Evidence for obtaining a second successive semen sample for intrauterine insemination in selected patients: results from 32 consecutive cases.

Ortiz A, Ortiz R, Soto E, Hartmann J, Manzur A, Marconi M.

Clin Exp Reprod Med. 2016 Jun;43(2):102-5. doi: 10.5653/cerm.2016.43.2.102. Epub 2016 Jun 23.

21.

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.

Scalco RS, Gardiner AR, Pitceathly RD, Hilton-Jones D, Schapira AH, Turner C, Parton M, Desikan M, Barresi R, Marsh J, Manzur AY, Childs AM, Feng L, Murphy E, Lamont PJ, Ravenscroft G, Wallefeld W, Davis MR, Laing NG, Holton JL, Fialho D, Bushby K, Hanna MG, Phadke R, Jungbluth H, Houlden H, Quinlivan R.

Neuromuscul Disord. 2016 Aug;26(8):504-10. doi: 10.1016/j.nmd.2016.05.006. Epub 2016 May 11.

PMID:
27312022
22.

Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels?

Alshaikh N, Brunklaus A, Davis T, Robb SA, Quinlivan R, Munot P, Sarkozy A, Muntoni F, Manzur AY; Dubowitz Neuromuscular Team.

Arch Dis Child. 2016 Oct;101(10):957-61. doi: 10.1136/archdischild-2015-308825. Epub 2016 May 31.

PMID:
27246070
23.

Corticosteroids for the treatment of Duchenne muscular dystrophy.

Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY.

Cochrane Database Syst Rev. 2016 May 5;(5):CD003725. doi: 10.1002/14651858.CD003725.pub4. Review.

PMID:
27149418
24.

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H.

Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393.

25.

Thickening of the optic nerves in metachromatic leucodystrophy: A new MRI finding.

Roi D, Mankad K, Kaliakatsos M, Cleary M, Manzur A, D'Arco F.

Neuroradiol J. 2016 Apr;29(2):134-6. doi: 10.1177/1971400916633479. Epub 2016 Feb 25.

26.

Breakthrough candidaemia in the era of broad-spectrum antifungal therapies.

Cuervo G, Garcia-Vidal C, Nucci M, Puchades F, Fernández-Ruiz M, Obed M, Manzur A, Gudiol C, Pemán J, Aguado JM, Ayats J, Carratalà J.

Clin Microbiol Infect. 2016 Feb;22(2):181-188. doi: 10.1016/j.cmi.2015.09.029. Epub 2015 Oct 13.

27.

A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy.

Kiiski K, Lehtokari VL, Manzur AY, Sewry C, Zaharieva I, Muntoni F, Pelin K, Wallgren-Pettersson C.

J Neuromuscul Dis. 2015 Sep 21;2(4):433-438.

28.

Infantile-onset LMNA-associated Muscular Dystrophy Mimicking Juvenile Idiopathic Inflammatory Myopathy.

Moraitis E, Foley AR, Pilkington CA, Manzur AY, Quinlivan R, Jacques TS, Phadke R, Compeyrot-Lacassagne S.

J Rheumatol. 2015 Jun;42(6):1064-6. doi: 10.3899/jrheum.140554. Review. No abstract available.

PMID:
26034236
29.

The value of cardiac MRI versus echocardiography in the pre-operative assessment of patients with Duchenne muscular dystrophy.

Brunklaus A, Parish E, Muntoni F, Scuplak S, Tucker SK, Fenton M, Hughes ML, Manzur AY.

Eur J Paediatr Neurol. 2015 Jul;19(4):395-401. doi: 10.1016/j.ejpn.2015.03.008. Epub 2015 Mar 24.

PMID:
25843299
30.

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials.

Ricotti V, Ridout DA, Pane M, Main M, Mayhew A, Mercuri E, Manzur AY, Muntoni F; UK NorthStar Clinical Network.

J Neurol Neurosurg Psychiatry. 2016 Feb;87(2):149-55. doi: 10.1136/jnnp-2014-309405. Epub 2015 Mar 2.

31.

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY, Martínez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, Connolly AM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C, Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F.

Neurology. 2015 Feb 17;84(7):668-79. doi: 10.1212/WNL.0000000000001269. Epub 2015 Jan 21.

32.

Congenital myopathies: Natural history of a large pediatric cohort.

Colombo I, Scoto M, Manzur AY, Robb SA, Maggi L, Gowda V, Cullup T, Yau M, Phadke R, Sewry C, Jungbluth H, Muntoni F.

Neurology. 2015 Jan 6;84(1):28-35. doi: 10.1212/WNL.0000000000001110. Epub 2014 Nov 26.

33.

Efficacy of clarithromycin in pityriasis rosea.

Ahmed N, Iftikhar N, Bashir U, Rizvi SD, Sheikh ZI, Manzur A.

J Coll Physicians Surg Pak. 2014 Nov;24(11):802-5. doi: 11.2014/JCPSP.802805.

PMID:
25404436
34.

Updating the knowledge of hepatitis E: new variants and higher prevalence of anti-HEV in Argentina.

Munné MS, Altabert NR, Otegui M LO, Vladimirsky SN, Moreiro R, Espul MP, Espul C, Manzur A, Soto SS, Brajterman LS, González JE.

Ann Hepatol. 2014 Sep-Oct;13(5):496-502.

35.

RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine.

Illingworth MA, Main M, Pitt M, Feng L, Sewry CA, Gunny R, Vorstman E, Beeson D, Manzur A, Muntoni F, Robb SA.

Neuromuscul Disord. 2014 Aug;24(8):707-12. doi: 10.1016/j.nmd.2014.05.003. Epub 2014 May 23.

PMID:
24951453
36.

PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.

Illingworth MA, Meyer E, Chong WK, Manzur AY, Carr LJ, Younis R, Hardy C, McDonald F, Childs AM, Stewart B, Warren D, Kneen R, King MD, Hayflick SJ, Kurian MA.

Mol Genet Metab. 2014 Jun;112(2):183-9. doi: 10.1016/j.ymgme.2014.03.008. Epub 2014 Mar 29.

37.

Psychological reactivity to laboratory stress is associated with hormonal responses in postmenopausal women.

Fang CY, Egleston BL, Manzur AM, Townsend RR, Stanczyk FZ, Spiegel D, Dorgan JF.

J Int Med Res. 2014 Apr;42(2):444-56. doi: 10.1177/0300060513504696. Epub 2014 Mar 4.

38.

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

Piras R, Chiappe F, Torraca IL, Buers I, Usala G, Angius A, Akin MA, Basel-Vanagaite L, Benedicenti F, Chiodin E, El Assy O, Feingold-Zadok M, Guibert J, Kamien B, Kasapkara CS, Kiliç E, Boduroğlu K, Kurtoglu S, Manzur AY, Onal EE, Paderi E, Roche CH, Tümer L, Unal S, Utine GE, Zanda G, Zankl A, Zampino G, Crisponi G, Crisponi L, Rutsch F.

Hum Mutat. 2014 Apr;35(4):424-33. doi: 10.1002/humu.22522. Epub 2014 Mar 6.

PMID:
24488861
39.

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H.

Brain. 2014 Jan;137(Pt 1):44-56. doi: 10.1093/brain/awt315. Epub 2013 Nov 19.

40.

Effect of statin use on outcomes of adults with candidemia.

Cuervo G, Garcia-Vidal C, Nucci M, Puchades F, Fernández-Ruiz M, Mykietiuk A, Manzur A, Gudiol C, Pemán J, Viasus D, Ayats J, Carratalà J.

PLoS One. 2013 Oct 14;8(10):e77317. doi: 10.1371/journal.pone.0077317. eCollection 2013.

41.

Multiple disseminated pyogenic granulomas.

Qadir SN, Manzur A, Raza N.

J Coll Physicians Surg Pak. 2013 Aug;23(8):588-9. doi: 08.2013/JCPSP.588589.

PMID:
23930879
42.

Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy.

Mayhew AG, Cano SJ, Scott E, Eagle M, Bushby K, Manzur A, Muntoni F; North Star Clinical Network for Neuromuscular Disease.

Dev Med Child Neurol. 2013 Nov;55(11):1046-52. doi: 10.1111/dmcn.12220. Epub 2013 Aug 5.

43.

DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.

Klein A, Pitt MC, McHugh JC, Niks EH, Sewry CA, Phadke R, Feng L, Manzur AY, Tirupathi S, Devile C, Jayawant S, Finlayson S, Palace J, Muntoni F, Beeson D, Robb SA.

Neuromuscul Disord. 2013 Nov;23(11):883-91. doi: 10.1016/j.nmd.2013.06.002. Epub 2013 Jul 3.

PMID:
23831158
44.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG.

Am J Hum Genet. 2013 Jul 11;93(1):6-18. doi: 10.1016/j.ajhg.2013.05.004. Epub 2013 Jun 6.

45.

Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report.

Jethwa H, Jacques TS, Gunny R, Wedderburn LR, Pilkington C, Manzur AY.

Pediatr Rheumatol Online J. 2013 May 3;11(1):19. doi: 10.1186/1546-0096-11-19.

46.

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.

Dlamini N, Voermans NC, Lillis S, Stewart K, Kamsteeg EJ, Drost G, Quinlivan R, Snoeck M, Norwood F, Radunovic A, Straub V, Roberts M, Vrancken AF, van der Pol WL, de Coo RI, Manzur AY, Yau S, Abbs S, King A, Lammens M, Hopkins PM, Mohammed S, Treves S, Muntoni F, Wraige E, Davis MR, van Engelen B, Jungbluth H.

Neuromuscul Disord. 2013 Jul;23(7):540-8. doi: 10.1016/j.nmd.2013.03.008. Epub 2013 Apr 28.

PMID:
23628358
47.

RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.

Zhou H, Rokach O, Feng L, Munteanu I, Mamchaoui K, Wilmshurst JM, Sewry C, Manzur AY, Pillay K, Mouly V, Duchen M, Jungbluth H, Treves S, Muntoni F.

Hum Mutat. 2013 Jul;34(7):986-96. doi: 10.1002/humu.22326. Epub 2013 Apr 17.

PMID:
23553787
48.

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.

Scoto M, Cullup T, Cirak S, Yau S, Manzur AY, Feng L, Jacques TS, Anderson G, Abbs S, Sewry C, Jungbluth H, Muntoni F.

Eur J Hum Genet. 2013 Nov;21(11):1249-52. doi: 10.1038/ejhg.2013.31. Epub 2013 Feb 27.

49.

Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

Maggi L, Scoto M, Cirak S, Robb SA, Klein A, Lillis S, Cullup T, Feng L, Manzur AY, Sewry CA, Abbs S, Jungbluth H, Muntoni F.

Neuromuscul Disord. 2013 Mar;23(3):195-205. doi: 10.1016/j.nmd.2013.01.004. Epub 2013 Feb 8.

PMID:
23394784
50.

Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy.

Ricotti V, Ridout DA, Scott E, Quinlivan R, Robb SA, Manzur AY, Muntoni F; NorthStar Clinical Network.

J Neurol Neurosurg Psychiatry. 2013 Jun;84(6):698-705. doi: 10.1136/jnnp-2012-303902. Epub 2012 Dec 18.

PMID:
23250964

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