Neidhardt J - Search Results

1

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.

Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hörtnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, De Jonghe P, Biskup S, Weckhuysen S. Lemke JR, et al. Among authors: neidhardt j. Ann Neurol. 2014 Jan;75(1):147-54. doi: 10.1002/ana.24073. Epub 2014 Jan 2. Ann Neurol. 2014. PMID: 24272827 Free PMC article.

2

ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.

Poloschek CM, Bach M, Lagrèze WA, Glaus E, Lemke JR, Berger W, Neidhardt J. Poloschek CM, et al. Among authors: neidhardt j. Invest Ophthalmol Vis Sci. 2010 Aug;51(8):4253-65. doi: 10.1167/iovs.09-4655. Epub 2010 Mar 24. Invest Ophthalmol Vis Sci. 2010. PMID: 20335603 Free article.

3

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J. Glöckle N, et al. Among authors: neidhardt j. Eur J Hum Genet. 2014 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17. Eur J Hum Genet. 2014. PMID: 23591405 Free PMC article.

4

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.

Tiwari A, Lemke J, Altmueller J, Thiele H, Glaus E, Fleischhauer J, Nürnberg P, Neidhardt J, Berger W. Tiwari A, et al. Among authors: neidhardt j. PLoS One. 2016 Jul 8;11(7):e0158692. doi: 10.1371/journal.pone.0158692. eCollection 2016. PLoS One. 2016. PMID: 27391102 Free PMC article.

5

Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.

Owczarek-Lipska M, Mulahasanovic L, Obermaier CD, Hörtnagel K, Neubauer BA, Korenke GC, Biskup S, Neidhardt J. Owczarek-Lipska M, et al. Among authors: neidhardt j. Mol Biol Rep. 2019 Aug;46(4):4507-4516. doi: 10.1007/s11033-019-04906-4. Epub 2019 Jul 3. Mol Biol Rep. 2019. PMID: 31270756

6

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Courage C, Jackson CB, Owczarek-Lipska M, Jamsheer A, Sowińska-Seidler A, Piotrowicz M, Jakubowski L, Dallèves F, Riesch E, Neidhardt J, Lemke JR. Courage C, et al. Among authors: neidhardt j. Am J Med Genet A. 2019 Dec;179(12):2447-2453. doi: 10.1002/ajmg.a.61354. Epub 2019 Sep 11. Am J Med Genet A. 2019. PMID: 31512363

7

A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy.

Korenke GC, Schulte B, Biskup S, Neidhardt J, Owczarek-Lipska M. Korenke GC, et al. Among authors: neidhardt j. Mol Syndromol. 2020 Jul;11(3):135-140. doi: 10.1159/000508566. Epub 2020 Jun 13. Mol Syndromol. 2020. PMID: 32903878 Free PMC article.

8

Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.

Zeitz C, Gross AK, Leifert D, Kloeckener-Gruissem B, McAlear SD, Lemke J, Neidhardt J, Berger W. Zeitz C, et al. Among authors: neidhardt j. Invest Ophthalmol Vis Sci. 2008 Sep;49(9):4105-14. doi: 10.1167/iovs.08-1717. Epub 2008 May 16. Invest Ophthalmol Vis Sci. 2008. PMID: 18487375

9

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Tiwari A, Bahr A, Bähr L, Fleischhauer J, Zinkernagel MS, Winkler N, Barthelmes D, Berger L, Gerth-Kahlert C, Neidhardt J, Berger W. Tiwari A, et al. Among authors: neidhardt j. Sci Rep. 2016 Jun 29;6:28755. doi: 10.1038/srep28755. Sci Rep. 2016. PMID: 27353947 Free PMC article.

10

The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.

Abplanalp J, Laczko E, Philp NJ, Neidhardt J, Zuercher J, Braun P, Schorderet DF, Munier FL, Verrey F, Berger W, Camargo SM, Kloeckener-Gruissem B. Abplanalp J, et al. Among authors: neidhardt j. Hum Mol Genet. 2013 Aug 15;22(16):3218-26. doi: 10.1093/hmg/ddt175. Epub 2013 Apr 10. Hum Mol Genet. 2013. PMID: 23578822 Free PMC article.

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