Gangfuß A - Search Results

1

Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants.

Unger A, Roos A, Gangfuß A, Hentschel A, Gläser D, Krause K, Doering K, Schara-Schmidt U, Hoffjan S, Vorgerd M, Güttsches AK. Unger A, et al. Among authors: gangfuss a. Int J Mol Sci. 2023 Apr 6;24(7):6808. doi: 10.3390/ijms24076808. Int J Mol Sci. 2023. PMID: 37047781 Free PMC article.

2

Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy.

Fouarge E, Monseur A, Boulanger B, Annoussamy M, Seferian AM, De Lucia S, Lilien C, Thielemans L, Paradis K, Cowling BS, Freitag C, Carlin BP, Servais L; NatHis-MTM Study Group. Fouarge E, et al. Orphanet J Rare Dis. 2021 Jan 6;16(1):3. doi: 10.1186/s13023-020-01663-7. Orphanet J Rare Dis. 2021. PMID: 33407688 Free PMC article.

3

Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience.

Gangfuss A, Schmitt D, Roos A, Braun F, Annoussamy M, Servais L, Schara-Schmidt U. Gangfuss A, et al. J Neuromuscul Dis. 2021;8(1):79-90. doi: 10.3233/JND-200539. J Neuromuscul Dis. 2021. PMID: 33164942 Free PMC article.

4

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.

Gangfuß A, Yigit G, Altmüller J, Nürnberg P, Czeschik JC, Wollnik B, Bögershausen N, Burfeind P, Wieczorek D, Kaiser F, Roos A, Kölbel H, Schara-Schmidt U, Kuechler A. Gangfuß A, et al. Am J Med Genet A. 2021 Apr;185(4):1216-1221. doi: 10.1002/ajmg.a.62070. Epub 2021 Jan 11. Am J Med Genet A. 2021. PMID: 33427397

5

Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.

Braun F, Gangfuß A, Stöbe P, Haack TB, Schweiger B, Roos A, Schara U. Braun F, et al. Among authors: gangfuss a. Mol Genet Genomic Med. 2021 Dec;9(12):e1767. doi: 10.1002/mgg3.1767. Epub 2021 Jul 20. Mol Genet Genomic Med. 2021. PMID: 34288564 Free PMC article.

6

A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents.

Gangfuß A, Lochmüller H, Töpf A, O'Heir E, Horvath R, Kölbel H, Schweiger B, Schara-Schmidt U, Roos A. Gangfuß A, et al. Am J Med Genet A. 2022 Jan;188(1):283-291. doi: 10.1002/ajmg.a.62494. Epub 2021 Sep 14. Am J Med Genet A. 2022. PMID: 34519148

7

Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.

Gangfuß A, Czech A, Hentschel A, Münchberg U, Horvath R, Töpf A, O'Heir E, Lochmüller H, Stehling F, Kiewert C, Sickmann A, Kuechler A, Kaiser FJ, Kölbel H, Christiansen J, Schara-Schmidt U, Roos A. Gangfuß A, et al. J Pathol. 2022 Jan;256(1):93-107. doi: 10.1002/path.5812. Epub 2021 Nov 18. J Pathol. 2022. PMID: 34599609

8

[Genomics and proteomics in the research of neuromuscular diseases].

Gangfuß A, Schara-Schmidt U, Roos A. Gangfuß A, et al. Nervenarzt. 2022 Feb;93(2):114-121. doi: 10.1007/s00115-021-01201-1. Epub 2021 Oct 7. Nervenarzt. 2022. PMID: 34622318 Review. German.

9

Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3.

Della Marina A, Arlt A, Schara-Schmidt U, Depienne C, Gangfuß A, Kölbel H, Sickmann A, Freier E, Kohlschmidt N, Hentschel A, Weis J, Czech A, Grüneboom A, Roos A. Della Marina A, et al. Among authors: gangfuss a. Cells. 2021 Dec 9;10(12):3481. doi: 10.3390/cells10123481. Cells. 2021. PMID: 34943989 Free PMC article.

10

Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.

Gangfuß A, Hentschel A, Rademacher N, Sickmann A, Stüve B, Horvath R, Gross C, Kohlschmidt N, Förster F, Abicht A, Schänzer A, Schara-Schmidt U, Roos A, Della Marina A. Gangfuß A, et al. Hum Mutat. 2022 Apr;43(4):477-486. doi: 10.1002/humu.24338. Epub 2022 Feb 16. Hum Mutat. 2022. PMID: 35112411

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