Haack T - Search Results

1

First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report.

Weisschuh N, Mazzola P, Heinrich T, Haack T, Wissinger B, Tonagel F, Kelbsch C. Weisschuh N, et al. Among authors: haack t. BMC Med Genet. 2020 Nov 26;21(1):236. doi: 10.1186/s12881-020-01166-z. BMC Med Genet. 2020. PMID: 33243194 Free PMC article.

2

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.

Koch J, Feichtinger RG, Freisinger P, Pies M, Schrödl F, Iuso A, Sperl W, Mayr JA, Prokisch H, Haack TB. Koch J, et al. J Med Genet. 2016 Apr;53(4):270-8. doi: 10.1136/jmedgenet-2015-103500. Epub 2016 Jan 18. J Med Genet. 2016. PMID: 26783368

3

Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.

Milev MP, Graziano C, Karall D, Kuper WFE, Al-Deri N, Cordelli DM, Haack TB, Danhauser K, Iuso A, Palombo F, Pippucci T, Prokisch H, Saint-Dic D, Seri M, Stanga D, Cenacchi G, van Gassen KLI, Zschocke J, Fauth C, Mayr JA, Sacher M, van Hasselt PM. Milev MP, et al. Among authors: haack tb. J Med Genet. 2018 Nov;55(11):753-764. doi: 10.1136/jmedgenet-2018-105441. Epub 2018 Aug 17. J Med Genet. 2018. PMID: 30120216

4

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.

Park J, Flores BR, Scherer K, Kuepper H, Rossi M, Rupprich K, Rautenberg M, Deininger N, Weichselbaum A, Grimm A, Sturm M, Grasshoff U, Delpire E, Haack TB. Park J, et al. J Med Genet. 2020 Apr;57(4):283-288. doi: 10.1136/jmedgenet-2019-106273. Epub 2019 Aug 22. J Med Genet. 2020. PMID: 31439721 Free PMC article.

5

Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?

Laugwitz L, Buchert R, Groeschel S, Riess A, Grimmel M, Beck-Wödl S, Sturm M, Gohla G, Döbler-Neumann M, Krägeloh-Mann I, Haack TB. Laugwitz L, et al. Eur J Med Genet. 2020 Jul;63(7):103938. doi: 10.1016/j.ejmg.2020.103938. Epub 2020 Apr 28. Eur J Med Genet. 2020. PMID: 32360255

6

Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome.

Binder G, Ziegler J, Schweizer R, Habhab W, Haack TB, Heinrich T, Eggermann T. Binder G, et al. Among authors: haack tb. Clin Epigenetics. 2020 Oct 19;12(1):152. doi: 10.1186/s13148-020-00945-y. Clin Epigenetics. 2020. PMID: 33076988 Free PMC article.

7

Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.

Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S. Kuehlewein L, et al. Among authors: haack tb. Int J Mol Sci. 2021 Feb 27;22(5):2374. doi: 10.3390/ijms22052374. Int J Mol Sci. 2021. PMID: 33673512 Free PMC article.

8

Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants.

Weisschuh N, Mazzola P, Bertrand M, Haack TB, Wissinger B, Kohl S, Stingl K. Weisschuh N, et al. Int J Mol Sci. 2021 May 20;22(10):5396. doi: 10.3390/ijms22105396. Int J Mol Sci. 2021. PMID: 34065499 Free PMC article.

9

Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms.

Weisschuh N, Marino V, Schäferhoff K, Richter P, Park J, Haack TB, Dell'Orco D. Weisschuh N, et al. Hum Mol Genet. 2022 Mar 3;31(5):761-774. doi: 10.1093/hmg/ddab286. Hum Mol Genet. 2022. PMID: 34559197 Free PMC article.

10

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.

Falb RJ, Müller AJ, Klein W, Grimmel M, Grasshoff U, Spranger S, Stöbe P, Gauck D, Kuechler A, Dikow N, Schwaibold EMC, Schmidt C, Averdunk L, Buchert R, Heinrich T, Prodan N, Park J, Kehrer M, Sturm M, Kelemen O, Hartmann S, Horn D, Emmerich D, Hirt N, Neumann A, Kristiansen G, Gembruch U, Haen S, Siebert R, Hentze S, Hoopmann M, Ossowski S, Waldmüller S, Beck-Wödl S, Gläser D, Tekesin I, Distelmaier F, Riess O, Kagan KO, Dufke A, Haack TB. Falb RJ, et al. Among authors: haack tb. J Med Genet. 2023 Jan;60(1):48-56. doi: 10.1136/jmedgenet-2021-108064. Epub 2021 Nov 5. J Med Genet. 2023. PMID: 34740919 Free PMC article.

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