Topf A - Search Results

1

A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology.

Kadhim H, El-Howayek E, Coppens S, Duff J, Topf A, Kaleeta JP, Simoni P, Boitsios G, Remiche G, Straub V, Vilain C, Deconinck N. Kadhim H, et al. Among authors: topf a. Neuromuscul Disord. 2023 May;33(5):410-416. doi: 10.1016/j.nmd.2023.03.007. Epub 2023 Mar 22. Neuromuscul Disord. 2023. PMID: 37037050

2

22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia.

van Engelen K, Topf A, Keavney BD, Goodship JA, van der Velde ET, Baars MJ, Snijder S, Moorman AF, Postma AV, Mulder BJ. van Engelen K, et al. Among authors: topf a. Heart. 2010 Apr;96(8):621-4. doi: 10.1136/hrt.2009.182642. Heart. 2010. PMID: 20357389

3

Holocene elephant seal distribution implies warmer-than-present climate in the Ross Sea.

Hall BL, Hoelzel AR, Baroni C, Denton GH, Le Boeuf BJ, Overturf B, Töpf AL. Hall BL, et al. Among authors: topf al. Proc Natl Acad Sci U S A. 2006 Jul 5;103(27):10213-10217. doi: 10.1073/pnas.0604002103. Epub 2006 Jun 26. Proc Natl Acad Sci U S A. 2006. PMID: 16801535 Free PMC article.

4

Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation.

Howey R, Mamasoula C, Töpf A, Nudel R, Goodship JA, Keavney BD, Cordell HJ. Howey R, et al. Among authors: topf a. Am J Hum Genet. 2015 Sep 3;97(3):419-34. doi: 10.1016/j.ajhg.2015.07.016. Epub 2015 Aug 27. Am J Hum Genet. 2015. PMID: 26320892 Free PMC article.

5

Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot.

Palomino Doza J, Topf A, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Bu'Lock FA, O'Sullivan J, Stuart AG, Parsons J, Relton C, Goodship J, Henderson DJ, Keavney B. Palomino Doza J, et al. Among authors: topf a. BMC Genet. 2013 Jun 19;14:57. doi: 10.1186/1471-2156-14-57. BMC Genet. 2013. PMID: 23782575 Free PMC article.

6

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. Van den Bergh PYK, et al. Among authors: topf a. Neuromuscul Disord. 2017 Nov;27(11):1043-1046. doi: 10.1016/j.nmd.2017.07.006. Epub 2017 Jul 17. Neuromuscul Disord. 2017. PMID: 28803818

7

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. Van den Bergh PYK, et al. Among authors: topf a. Neuromuscul Disord. 2018 Jan;28(1):101. doi: 10.1016/j.nmd.2017.11.012. Epub 2017 Dec 12. Neuromuscul Disord. 2018. PMID: 29246662 No abstract available.

8

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. Hedberg-Oldfors C, et al. Among authors: topf a. Neuromuscul Disord. 2019 Dec;29(12):951-960. doi: 10.1016/j.nmd.2019.10.002. Epub 2019 Oct 23. Neuromuscul Disord. 2019. PMID: 31791869

9

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. De Ridder W, et al. Among authors: topf a. Neurology. 2020 Feb 25;94(8):e785-e796. doi: 10.1212/WNL.0000000000008763. Epub 2019 Dec 17. Neurology. 2020. PMID: 31848255

10

Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients.

Mroczek M, Durmus H, Bijarnia-Mahay S, Töpf A, Ghaoui R, Bryen S, Duff J, England E, Cooper ST, MacArthur DG, Straub V. Mroczek M, et al. Among authors: topf a. Neuromuscul Disord. 2020 Apr;30(4):310-314. doi: 10.1016/j.nmd.2020.02.006. Epub 2020 Feb 14. Neuromuscul Disord. 2020. PMID: 32331917

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