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Items: 1 to 50 of 80

1.

COL4A1-related autosomal recessive encephalopathy in 2 Turkish children.

Yaramis A, Lochmüller H, Töpf A, Sonmezler E, Yilmaz E, Hiz S, Yis U, Gungor S, Ipek Polat A, Edem P, Beltran S, Laurie S, Yaramis A, Horvath R, Oktay Y.

Neurol Genet. 2020 Jan 10;6(1):e392. doi: 10.1212/NXG.0000000000000392. eCollection 2020 Feb.

2.

Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies.

Savarese M, Johari M, Johnson K, Arumilli M, Torella A, Töpf A, Rubegni A, Kuhn M, Giugliano T, Gläser D, Fattori F, Thompson R, Penttilä S, Lehtinen S, Gibertini S, Ruggieri A, Mora M, Maver A, Peterlin B, Mankodi A, Lochmüller H, Santorelli FM, Schoser B, Fajkusová L, Straub V, Nigro V, Hackman P, Udd B.

J Neuromuscul Dis. 2020 Feb 7. doi: 10.3233/JND-190423. [Epub ahead of print]

PMID:
32039858
3.

Exercise-related T-wave oversensing: an underestimated cause of reduced exercise capacity in a pacemaker-dependent patient-a case report and review of the literature.

Topf A, Motloch LJ, Kraus J, Danmayr F, Mirna M, Schernthaner C, Hoppe UC, Strohmer B.

J Interv Card Electrophysiol. 2020 Jan 23. doi: 10.1007/s10840-019-00698-6. [Epub ahead of print] Review.

PMID:
31974858
4.

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.

Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mongini T, Nafissi S, Claeys KG, Grewal RP, Takeuchi M, Hao H, Bönnemann C, Lopes Abath Neto O, Medne L, Brandsema J, Töpf A, Taneva A, Vilchez JJ, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C.

Acta Neuropathol. 2020 Mar;139(3):565-582. doi: 10.1007/s00401-019-02117-6. Epub 2020 Jan 3.

PMID:
31897643
5.

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation: A tale of the unexpected.

De Ridder W, Azmi A, Clemen CS, Eichinger L, Hofmann A, Schröder R, Johnson K, Töpf A, Straub V, De Jonghe P, Maudsley S, De Bleecker JL, Baets J.

Neurology. 2020 Feb 25;94(8):e785-e796. doi: 10.1212/WNL.0000000000008763. Epub 2019 Dec 17.

PMID:
31848255
6.

Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency.

Hedberg-Oldfors C, De Ridder W, Kalev O, Böck K, Visuttijai K, Caravias G, Töpf A, Straub V, Baets J, Oldfors A.

Neuromuscul Disord. 2019 Dec;29(12):951-960. doi: 10.1016/j.nmd.2019.10.002. Epub 2019 Oct 23.

PMID:
31791869
7.

MicroRNAs in Inflammatory Heart Diseases and Sepsis-Induced Cardiac Dysfunction: A Potential Scope for the Future?

Mirna M, Paar V, Rezar R, Topf A, Eber M, Hoppe UC, Lichtenauer M, Jung C.

Cells. 2019 Oct 30;8(11). pii: E1352. doi: 10.3390/cells8111352. Review.

8.

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

Bryen SJ, Ewans LJ, Pinner J, MacLennan SC, Donkervoort S, Castro D, Töpf A, O'Grady G, Cummings B, Chao KR, Weisburd B, Francioli L, Faiz F, Bournazos AM, Hu Y, Grosmann C, Malicki DM, Doyle H, Witting N, Vissing J, Claeys KG, Urankar K, Beleza-Meireles A, Baptista J, Ellard S, Savarese M, Johari M, Vihola A, Udd B, Majumdar A, Straub V, Bönnemann CG, MacArthur DG, Davis MR, Cooper ST.

Hum Mutat. 2019 Oct 29. doi: 10.1002/humu.23938. [Epub ahead of print]

PMID:
31660661
9.

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 Dec;86(6):832-843. doi: 10.1002/ana.25620. Epub 2019 Oct 28.

PMID:
31610034
10.

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.

11.

Severe neurodevelopmental disease caused by a homozygous TLK2 variant.

Töpf A, Oktay Y, Balaraju S, Yilmaz E, Sonmezler E, Yis U, Laurie S, Thompson R, Roos A, MacArthur DG, Yaramis A, Güngör S, Lochmüller H, Hiz S, Horvath R.

Eur J Hum Genet. 2020 Mar;28(3):383-387. doi: 10.1038/s41431-019-0519-x.

12.

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.

Balaraju S, Töpf A, McMacken G, Kumar VP, Pechmann A, Roper H, Vengalil S, Polavarapu K, Nashi S, Mahajan NP, Barbosa IA, Deshpande C, Taylor RW, Cossins J, Beeson D, Laurie S, Kirschner J, Horvath R, McFarland R, Nalini A, Lochmüller H.

Eur J Hum Genet. 2020 Mar;28(3):373-377. doi: 10.1038/s41431-019-0506-2. Epub 2019 Sep 16.

PMID:
31527857
13.

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 Dec;138(6):1013-1031. doi: 10.1007/s00401-019-02059-z. Epub 2019 Aug 29.

14.

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.

15.

Clinical presentation and proteomic signature of patients with TANGO2 mutations.

Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Waddell L, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero D, Jou C, Nascimento A, Ortez C, García-Cazorla A, Gross C, O'Callaghan M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero R, Sarquella G, Lochmüller H, Jiménez-Mallebrera C, Taylor RW, Artuch R, Kirschner J, Grünert SC, Roos A, Horvath R.

J Inherit Metab Dis. 2019 Jul 24. doi: 10.1002/jimd.12156. [Epub ahead of print]

PMID:
31339582
16.

Transcatheter aortic valve implantation in a patient with suspected hereditary von Willebrand disease and severe gastrointestinal bleeding - a case report.

Mirna M, Lichtenauer M, Theurl T, Ausserwinkler M, Topf A, Westphal T, Gampenrieder SP, Pretsch I, Greil R, Hoppe UC.

Scott Med J. 2019 Nov;64(4):142-147. doi: 10.1177/0036933019862155. Epub 2019 Jul 19.

PMID:
31324129
17.

Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome.

Gatz C, Hathazi D, Münchberg U, Buchkremer S, Labisch T, Munro B, Horvath R, Töpf A, Weis J, Roos A.

Front Neurol. 2019 Jun 14;10:562. doi: 10.3389/fneur.2019.00562. eCollection 2019.

18.

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.

19.

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.

Thompson R, Papakonstantinou Ntalis A, Beltran S, Töpf A, de Paula Estephan E, Polavarapu K, 't Hoen PAC, Missier P, Lochmüller H.

Hum Mutat. 2019 Oct;40(10):1797-1812. doi: 10.1002/humu.23792. Epub 2019 Jun 23.

PMID:
31231902
20.

Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family.

Yiş U, Hiz S, Güneş S, Diniz G, Baydan F, Töpf A, Sonmezler E, Lochmüller H, Horvath R, Oktay Y.

J Neuromuscul Dis. 2019;6(3):377-384. doi: 10.3233/JND-190383.

21.

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.

22.

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.

Rodríguez Cruz PM, Cossins J, Estephan EP, Munell F, Selby K, Hirano M, Maroofin R, Mehrjardi MYV, Chow G, Carr A, Manzur A, Robb S, Munot P, Wei Liu W, Banka S, Fraser H, De Goede C, Zanoteli E, Conti Reed U, Sage A, Gratacos M, Macaya A, Dusl M, Senderek J, Töpf A, Hofer M, Knight R, Ramdas S, Jayawant S, Lochmüller H, Palace J, Beeson D.

Brain. 2019 Jun 1;142(6):1547-1560. doi: 10.1093/brain/awz107.

23.

MACF1 links Rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses.

Oury J, Liu Y, Töpf A, Todorovic S, Hoedt E, Preethish-Kumar V, Neubert TA, Lin W, Lochmüller H, Burden SJ.

J Cell Biol. 2019 May 6;218(5):1686-1705. doi: 10.1083/jcb.201810023. Epub 2019 Mar 6.

24.

Clinical implications of fetuin-A.

Jirak P, Stechemesser L, Moré E, Franzen M, Topf A, Mirna M, Paar V, Pistulli R, Kretzschmar D, Wernly B, Hoppe UC, Lichtenauer M, Salmhofer H.

Adv Clin Chem. 2019;89:79-130. doi: 10.1016/bs.acc.2018.12.003. Epub 2019 Feb 8. Review.

PMID:
30797472
25.

Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.

Page DJ, Miossec MJ, Williams SG, Monaghan RM, Fotiou E, Cordell HJ, Sutcliffe L, Topf A, Bourgey M, Bourque G, Eveleigh R, Dunwoodie SL, Winlaw DS, Bhattacharya S, Breckpot J, Devriendt K, Gewillig M, Brook JD, Setchfield KJ, Bu'Lock FA, O'Sullivan J, Stuart G, Bezzina CR, Mulder BJM, Postma AV, Bentham JR, Baron M, Bhaskar SS, Black GC, Newman WG, Hentges KE, Lathrop GM, Santibanez-Koref M, Keavney BD.

Circ Res. 2019 Feb 15;124(4):553-563. doi: 10.1161/CIRCRESAHA.118.313250.

26.

Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil.

Estephan EP, Zambon AA, Marchiori PE, da Silva AMS, Caldas VM, Moreno CAM, Reed UC, Horvath R, Töpf A, Lochmüller H, Zanoteli E.

Neuromuscul Disord. 2018 Nov;28(11):961-964. doi: 10.1016/j.nmd.2018.08.007. Epub 2018 Sep 5.

PMID:
30266223
27.

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.

28.

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
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.

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.

31.

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
32.

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 Jul;176(7):1594-1601. doi: 10.1002/ajmg.a.38707. Epub 2018 Apr 28.

PMID:
29704306
33.

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.

34.

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.

35.

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
36.

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
37.

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
38.

Limb girdle muscular dystrophy due to mutations in POMT2.

Østergaard ST, Johnson K, Stojkovic T, Krag T, De Ridder W, De Jonghe P, Baets J, Claeys KG, Fernández-Torrón R, Phillips L, Topf A, Colomer J, Nafissi S, Jamal-Omidi S, Bouchet-Seraphin C, Leturcq F, MacArthur DG, Lek M, Xu L, Nelson I, Straub V, Vissing J.

J Neurol Neurosurg Psychiatry. 2018 May;89(5):506-512. doi: 10.1136/jnnp-2017-317018. Epub 2017 Nov 24.

PMID:
29175898
39.

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

Johnson K, Töpf A, Bertoli M, Phillips L, Claeys KG, Stojanovic VR, Perić S, Hahn A, Maddison P, Akay E, Bastian AE, Łusakowska A, Kostera-Pruszczyk A, Lek M, Xu L, MacArthur DG, Straub V.

Orphanet J Rare Dis. 2017 Nov 17;12(1):173. doi: 10.1186/s13023-017-0722-1.

40.

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, Polvikoski 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. Review.

PMID:
29128256
41.

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
42.

MicroScale Thermophoresis (MST) for studying actin polymerization kinetics.

Topf A, Franz P, Tsiavaliaris G.

Biotechniques. 2017 Oct 1;63(4):187-190. doi: 10.2144/000114599.

43.

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.

44.

A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.

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. 2017 Nov;27(11):1043-1046. doi: 10.1016/j.nmd.2017.07.006. Epub 2017 Jul 17. Erratum in: Neuromuscul Disord. 2017 Dec 12;:.

PMID:
28803818
45.

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
46.

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

Harris E, Burki U, Marini-Bettolo C, Neri M, Scotton C, Hudson J, Bertoli M, Evangelista T, Vroling B, Polvikoski T, Roberts M, Töpf A, Bushby K, McArthur D, Lochmüller H, Ferlini A, Straub V, Barresi R.

Neuromuscul Disord. 2017 Sep;27(9):861-872. doi: 10.1016/j.nmd.2017.05.002. Epub 2017 May 4.

PMID:
28624464
47.

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes.

Azuma Y, Töpf A, Evangelista T, Lorenzoni PJ, Roos A, Viana P, Inagaki H, Kurahashi H, Lochmüller H.

Neurol Genet. 2017 May 3;3(3):e152. doi: 10.1212/NXG.0000000000000152. eCollection 2017 Jun.

48.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

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PMID:
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