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Items: 1 to 50 of 474

1.

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 May 7. pii: jnnp-2017-317488. doi: 10.1136/jnnp-2017-317488. [Epub ahead of print]

2.

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

Bansagi B, Phan V, Baker MR, O'Sullivan J, Jennings MJ, Whittaker RG, Müller JS, Duff J, Griffin H, Miller JAL, Gorman GS, Lochmüller H, Chinnery PF, Roos A, Swan LE, Horvath R.

Neurology. 2018 May 22;90(21):e1842-e1848. doi: 10.1212/WNL.0000000000005566. Epub 2018 May 2.

PMID:
29720545
3.

GNE myopathy: from clinics and genetics to pathology and research strategies.

Pogoryelova O, González Coraspe JA, Nikolenko N, Lochmüller H, Roos A.

Orphanet J Rare Dis. 2018 May 2;13(1):70. doi: 10.1186/s13023-018-0802-x. Review.

4.

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.

Owen D, Töpf A, Preethish-Kumar V, Lorenzoni PJ, Vroling B, Scola RH, Dias-Tosta E, Geraldo A, Polavarapu K, Nashi S, Cox D, Evangelista T, Dawson J, Thompson R, Senderek J, Laurie S, Beltran S, Gut M, Gut I, Nalini A, Lochmüller H.

Am J Med Genet A. 2018 Apr 28. doi: 10.1002/ajmg.a.38707. [Epub ahead of print]

PMID:
29704306
5.

How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features.

Lorenzoni PJ, Scola RH, Kay CSK, Werneck LC, Horvath R, Lochmüller H.

Neuromolecular Med. 2018 Jun;20(2):205-214. doi: 10.1007/s12017-018-8490-1. Epub 2018 Apr 25. Review.

PMID:
29696584
6.

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 Apr 16. doi: 10.1002/jcsm.12304. [Epub ahead of print]

7.

Mutations in glycyl-tRNA-synthetase impair mitochondrial metabolism in neurons.

Boczonadi V, Meyer K, Gonczarowska-Jorge H, Griffin H, Roos A, Bartsakoulia M, Bansagi B, Ricci G, Palinkas F, Zahedi RP, Bruni F, Kaspar B, Lochmüller H, Boycott KM, Müller JS, Horvath R.

Hum Mol Genet. 2018 Apr 10. doi: 10.1093/hmg/ddy127. [Epub ahead of print]

PMID:
29648643
8.

Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome.

Alrohaif H, Töpf A, Evangelista T, Lek M, McArthur D, Lochmüller H.

Neurol Genet. 2018 Mar 19;4(2):e226. doi: 10.1212/NXG.0000000000000226. eCollection 2018 Apr. No abstract available.

9.

222nd ENMC International Workshop:: Myotonic dystrophy, developing a European consortium for care and therapy, Naarden, The Netherlands, 1-2 July 2016.

Wood L, Bassez G, van Engelen B, Lochmüller H, Schoser B; 222nd ENMC workshop participants.

Neuromuscul Disord. 2018 May;28(5):463-469. doi: 10.1016/j.nmd.2018.02.003. Epub 2018 Feb 12. No abstract available.

PMID:
29550152
10.

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmüller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R.

Genet Med. 2018 Mar 8. doi: 10.1038/gim.2017.251. [Epub ahead of print]

PMID:
29517768
11.

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.

Lochmüller H, Badowska DM, Thompson R, Knoers NV, Aartsma-Rus A, Gut I, Wood L, Harmuth T, Durudas A, Graessner H, Schaefer F, Riess O; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium.

Eur J Hum Genet. 2018 Feb 27. doi: 10.1038/s41431-018-0115-5. [Epub ahead of print]

PMID:
29487416
12.

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 Feb 21. doi: 10.1002/mus.26109. [Epub ahead of print]

PMID:
29466827
13.

The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes.

McMacken G, Cox D, Roos A, Müller J, Whittaker R, Lochmüller H.

Hum Mol Genet. 2018 May 1;27(9):1556-1564. doi: 10.1093/hmg/ddy062.

14.

MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion.

O'Connor E, Phan V, Cordts I, Cairns G, Hettwer S, Cox D, Lochmüller H, Roos A.

Hum Mol Genet. 2018 Apr 15;27(8):1434-1446. doi: 10.1093/hmg/ddy054.

PMID:
29462312
15.

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 Feb 3. pii: jnnp-2017-316956. doi: 10.1136/jnnp-2017-316956. [Epub ahead of print]

PMID:
29437916
16.

The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.

Gainotti S, Torreri P, Wang CM, Reihs R, Mueller H, Heslop E, Roos M, Badowska DM, de Paulis F, Kodra Y, Carta C, Martìn EL, Miller VR, Filocamo M, Mora M, Thompson M, Rubinstein Y, Posada de la Paz M, Monaco L, Lochmüller H, Taruscio D.

Eur J Hum Genet. 2018 May;26(5):631-643. doi: 10.1038/s41431-017-0085-z. Epub 2018 Feb 2.

PMID:
29396563
17.

A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.

Estephan EP, Sobreira CFDR, Dos Santos ACJ, Tomaselli PJ, Marques W Jr., Ortega RPM, Costa MCM, da Silva AMS, Mendonça RH, Caldas VM, Zambon AA, Abath Neto O, Marchiori PE, Heise CO, Reed UC, Azuma Y, Töpf A, Lochmüller H, Zanoteli E.

J Neurol. 2018 Mar;265(3):708-713. doi: 10.1007/s00415-018-8736-8. Epub 2018 Jan 30.

PMID:
29383513
18.

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 Jan 29. pii: jnnp-2017-317329. doi: 10.1136/jnnp-2017-317329. [Epub ahead of print] No abstract available.

19.

Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey.

Jiménez-Moreno AC, Raaphorst J, Babačić H, Wood L, van Engelen B, Lochmüller H, Schoser B, Wenninger S.

Neuromuscul Disord. 2018 Mar;28(3):229-235. doi: 10.1016/j.nmd.2017.12.010. Epub 2017 Dec 27.

PMID:
29361394
20.

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.

Bartsakoulia M, Pyle A, Troncoso-Chandía D, Vial-Brizzi J, Paz-Fiblas MV, Duff J, Griffin H, Boczonadi V, Lochmüller H, Kleinle S, Chinnery PF, Grünert S, Kirschner J, Eisner V, Horvath R.

Hum Mol Genet. 2018 Apr 1;27(7):1186-1195. doi: 10.1093/hmg/ddy033.

PMID:
29361167
21.

Clinical and research strategies for limb-girdle congenital myasthenic syndromes.

O'Connor E, Töpf A, Zahedi RP, Spendiff S, Cox D, Roos A, Lochmüller H.

Ann N Y Acad Sci. 2018 Jan;1412(1):102-112. doi: 10.1111/nyas.13520. Epub 2018 Jan 5. Review.

PMID:
29315608
22.

Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.

Pogoryelova O, Cammish P, Mansbach H, Argov Z, Nishino I, Skrinar A, Chan Y, Nafissi S, Shamshiri H, Kakkis E, Lochmüller H.

Neuromuscul Disord. 2018 Feb;28(2):158-168. doi: 10.1016/j.nmd.2017.11.001. Epub 2017 Nov 14.

23.

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.

24.

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. 2017 Dec 18:1-8. doi: 10.1080/09638288.2017.1416501. [Epub ahead of print]

PMID:
29254382
25.

Natural History, Trial Readiness and Gene Discovery: Advances in Patient Registries for Neuromuscular Disease.

Thompson R, Robertson A, Lochmüller H.

Adv Exp Med Biol. 2017;1031:97-124. doi: 10.1007/978-3-319-67144-4_5.

PMID:
29214567
26.

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS.

Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4.

PMID:
29214566
27.

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.

Sernadela P, González-Castro L, Carta C, van der Horst E, Lopes P, Kaliyaperumal R, Thompson M, Thompson R, Queralt-Rosinach N, Lopez E, Wood L, Robertson A, Lamanna C, Gilling M, Orth M, Merino-Martinez R, Posada M, Taruscio D, Lochmüller H, Robinson P, Roos M, Oliveira JL.

Biomed Res Int. 2017;2017:8327980. doi: 10.1155/2017/8327980. Epub 2017 Oct 29.

28.

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.

McMacken G, Whittaker RG, Evangelista T, Abicht A, Dusl M, Lochmüller H.

J Neurol. 2018 Jan;265(1):194-203. doi: 10.1007/s00415-017-8689-3. Epub 2017 Nov 30.

29.

Cytokine Profiling of Serum Allows Monitoring of Disease Progression in Inclusion Body Myositis.

Badrising UA, Tsonaka R, Hiller M, Niks EH, Evangelista T, Lochmüller H, Verschuuren JJ, Aartsma-Rus A, Spitali P.

J Neuromuscul Dis. 2017;4(4):327-335. doi: 10.3233/JND-170234.

PMID:
29172005
30.

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.

Lochmüller H, Torrent I Farnell J, Le Cam Y, Jonker AH, Lau LP, Baynam G, Kaufmann P, Dawkins HJ, Lasko P, Austin CP, Boycott KM; IRDiRC Consortium Assembly.

Eur J Hum Genet. 2017 Dec;25(12):1293-1302. doi: 10.1038/s41431-017-0008-z. Epub 2017 Nov 20.

31.

MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes.

Harris E, Marini-Bettolo C, Töpf A, Barresi R, Polvikovski T, Bailey G, Charlton R, Tellez J, MacArthur D, Guglieri M, Lochmüller H, Bushby K, Straub V.

Neuromuscul Disord. 2018 Jan;28(1):48-53. doi: 10.1016/j.nmd.2017.09.017. Epub 2017 Oct 12.

PMID:
29128256
32.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H.

J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280.

33.

Patient Preferences for Treatments of Neuromuscular Diseases: A Systematic Literature Review.

Landfeldt E, Edström J, Lindgren P, Lochmüller H.

J Neuromuscul Dis. 2017;4(4):285-292. doi: 10.3233/JND-170271.

PMID:
29125503
34.

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions.

Nicole S, Azuma Y, Bauché S, Eymard B, Lochmüller H, Slater C.

J Neuromuscul Dis. 2017;4(4):269-284. doi: 10.3233/JND-170257.

35.

Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink.

Wang Y, Pfeiffer RM, Alsaggaf R, Meeraus W, Gage JC, Anderson LA, Bremer RC, Nikolenko N, Lochmuller H, Greene MH, Gadalla SM.

Int J Cancer. 2018 Mar 15;142(6):1174-1181. doi: 10.1002/ijc.31143. Epub 2017 Nov 20.

PMID:
29114849
36.

Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases.

Roos A, Thompson R, Horvath R, Lochmüller H, Sickmann A.

Proteomics Clin Appl. 2018 Mar;12(2). doi: 10.1002/prca.201700073. Epub 2017 Oct 23.

PMID:
29059504
37.

Molecular characterization of congenital myasthenic syndromes in Spain.

Natera-de Benito D, Töpf A, Vilchez JJ, González-Quereda L, Domínguez-Carral J, Díaz-Manera J, Ortez C, Bestué M, Gallano P, Dusl M, Abicht A, Müller JS, Senderek J, García-Ribes A, Muelas N, Evangelista T, Azuma Y, McMacken G, Paipa Merchan A, Rodríguez Cruz PM, Camacho A, Jiménez E, Miranda-Herrero MC, Santana-Artiles A, García-Campos O, Dominguez-Rubio R, Olivé M, Colomer J, Beeson D, Lochmüller H, Nascimento A.

Neuromuscul Disord. 2017 Dec;27(12):1087-1098. doi: 10.1016/j.nmd.2017.08.003. Epub 2017 Aug 18.

PMID:
29054425
38.

Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.

Morís G, Wood L, FernáNdez-Torrón R, González Coraspe JA, Turner C, Hilton-Jones D, Norwood F, Willis T, Parton M, Rogers M, Hammans S, Roberts M, Househam E, Williams M, Lochmüller H, Evangelista T.

Muscle Nerve. 2018 Mar;57(3):380-387. doi: 10.1002/mus.25991. Epub 2017 Nov 7.

39.

Co-presentation of adult-onset systemic lupus erythematosus and nemaline myopathy.

Hindocha A, Klimiuk P, Roberts M, Pal P, Evangelista T, Lochmüller H, Chinoy H.

Rheumatology (Oxford). 2017 Nov 1;56(11):2034-2035. doi: 10.1093/rheumatology/kex252. No abstract available.

PMID:
28977494
40.

Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome.

Shields MC, Bowers MR, Fulcer MM, Bollig MK, Rock PJ, Sutton BR, Vrailas-Mortimer AD, Lochmüller H, Whittaker RG, Horvath R, Reist NE.

PLoS One. 2017 Sep 27;12(9):e0184817. doi: 10.1371/journal.pone.0184817. eCollection 2017.

41.

Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.

Unger A, Beckendorf L, Böhme P, Kley R, von Frieling-Salewsky M, Lochmüller H, Schröder R, Fürst DO, Vorgerd M, Linke WA.

Acta Neuropathol Commun. 2017 Sep 15;5(1):72. doi: 10.1186/s40478-017-0474-0.

42.

Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.

Harris E, Topf A, Barresi R, Hudson J, Powell H, Tellez J, Hicks D, Porter A, Bertoli M, Evangelista T, Marini-Betollo C, Magnússon Ó, Lek M, MacArthur D, Bushby K, Lochmüller H, Straub V.

Orphanet J Rare Dis. 2017 Sep 6;12(1):151. doi: 10.1186/s13023-017-0699-9.

43.

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.

44.

A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis.

Takeuchi F, Komaki H, Yamagata Z, Maruo K, Rodger S, Kirschner J, Kubota T, Kimura E, Takeda S, Gramsch K, Vry J, Bushby K, Lochmüller H, Wada K, Nakamura H.

Neuromuscul Disord. 2017 Oct;27(10):894-904. doi: 10.1016/j.nmd.2017.06.557. Epub 2017 Jul 6.

45.

Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.

Austin CP, Cutillo CM, Lau LPL, Jonker AH, Rath A, Julkowska D, Thomson D, Terry SF, de Montleau B, Ardigò D, Hivert V, Boycott KM, Baynam G, Kaufmann P, Taruscio D, Lochmüller H, Suematsu M, Incerti C, Draghia-Akli R, Norstedt I, Wang L, Dawkins HJS; International Rare Diseases Research Consortium (IRDiRC).

Clin Transl Sci. 2018 Jan;11(1):21-27. doi: 10.1111/cts.12500. Epub 2017 Oct 23. Review. No abstract available.

46.

Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.

Dawkins HJS, Draghia-Akli R, Lasko P, Lau LPL, Jonker AH, Cutillo CM, Rath A, Boycott KM, Baynam G, Lochmüller H, Kaufmann P, Le Cam Y, Hivert V, Austin CP; International Rare Diseases Research Consortium (IRDiRC).

Clin Transl Sci. 2018 Jan;11(1):11-20. doi: 10.1111/cts.12501. Epub 2017 Oct 23. Review. No abstract available.

47.

A 'second truncation' in TTN causes early onset recessive muscular dystrophy.

Harris E, Töpf A, Vihola A, Evilä A, Barresi R, Hudson J, Hackman P, Herron B, MacArthur D, Lochmüller H, Bushby K, Udd B, Straub V.

Neuromuscul Disord. 2017 Nov;27(11):1009-1017. doi: 10.1016/j.nmd.2017.06.013. Epub 2017 Jun 22.

PMID:
28716623
48.

Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.

Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, Cook SF, Lochmüller H.

Orphanet J Rare Dis. 2017 Jul 4;12(1):124. doi: 10.1186/s13023-017-0671-8. Review.

49.

Benign and malignant tumors in the UK myotonic dystrophy patient registry.

Alsaggaf R, Wang Y, Marini-Bettolo C, Wood L, Nikolenko N, Lochmüller H, Greene MH, Gadalla SM.

Muscle Nerve. 2018 Feb;57(2):316-320. doi: 10.1002/mus.25736. Epub 2017 Jul 24.

PMID:
28662292
50.

A multi-source approach to determine SMA incidence and research ready population.

Verhaart IEC, Robertson A, Leary R, McMacken G, König K, Kirschner J, Jones CC, Cook SF, Lochmüller H.

J Neurol. 2017 Jul;264(7):1465-1473. doi: 10.1007/s00415-017-8549-1. Epub 2017 Jun 20.

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