2023

Sensitive and selective phenol sensing in denitrifying Aromatoleum aromaticum EbN1(T). Buschen R, Lambertus P, Scheve S, Horst S, Song F, Wohlbrand L, Neidhardt J, Winklhofer M, Wagner T, Rabus R. Microbiol Spectr 2023, Dec 12, 11(6), e0210023, PMID 37823660

mRNA splicing is modulated by intronic microRNAs. Farberov L, Weissglas-Volkov D, Shapira G, Zoabi Y, Schiff C, Kloeckener-Gruissem B, Neidhardt J, Shomron N. iScience 2023, Oct 20, 26(10), 107723, PMID 37692287

Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations. Usman M, Juschke C, Song F, Kastrati D, Owczarek-Lipska M, Eilers J, Pauleikhoff L, Lange C, Neidhardt J. Life Sci Alliance 2023, Oct, 6(10), PMID 37541846

In Vivo Efficacy and Safety Evaluations of Therapeutic Splicing Correction Using U1 snRNA in the Mouse Retina. Swirski S, May O, Ahlers M, Wissinger B, Greschner M, Juschke C, Neidhardt J. Cells 2023, Mar 21, 12(6), PMID 36980294

2022

A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10. Owczarek-Lipska M, Markus F, Bultmann E, Korenke GC, Neidhardt J. Genes (Basel) 2022, Nov 18, 13(11), PMID 36421828

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease. Nassisi M, De Bartolo G, Mohand-Said S, Condroyer C, Antonio A, Lancelot ME, Bujakowska K, Smirnov V, Pugliese T, Neidhardt J, Sahel JA, Zeitz C, Audo I. Int J Mol Sci 2022, Jun 28, 23(13), PMID 35806195

Systematic expression analysis of plasticity-related genes in mouse brain development brings PRG4 into play. Gross I, Tschigor T, Salman AL, Yang F, Luo J, Vonk D, Hipp MS, Neidhardt J, Brauer AU. Dev Dyn 2022, Apr, 251(4), 714-728, PMID 34622503

Single-cell transcriptomics identifies potential cells of origin of MYC rhabdoid tumors. Graf M, Interlandi M, Moreno N, Holdhof D, Gobel C, Melcher V, Mertins J, Albert TK, Kastrati D, Alfert A, Holsten T, de Faria F, Meisterernst M, Rossig C, Warmuth-Metz M, Nowak J, Meyer Zu Horste G, Mayere C, Nef S, Johann P, Fruhwald MC, Dugas M, Schuller U, Kerl K. Nat Commun 2022, Mar 22, 13(1), 1544, PMID 35318328

2021

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. PMID: 34626583

Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption. Jüschke C, Klopstock T, Catarino CB, Owczarek-Lipska M, Wissinger B, Neidhardt J. Mol Ther Nucleic Acids. 2021 Oct 21;26:1186-1197. PMID: 34853716 

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies. Song F, Owczarek-Lipska M, Ahmels T, Book M, Aisenbrey S, Menghini M, Barthelmes D, Schrader S, Spital G, Neidhardt J, Genes (Basel). 2021 Aug 20;12(8):1269. PMID: 34440443 

A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects. Markus F, Kannengießer A, Näder P, Atigbire P, Scholten A, Vössing C, Bültmann E, Korenke GC, Owczarek-Lipska M, Neidhardt J. J Hum Genet. 2021 Jul 1. PMID: 34211111

Dominant optic atrophy: Culprit mitochondria in the optic nerve. Lenaers G, Neutzner A, Le Dantec Y, Jüschke C, Xiao T, Decembrini S, Swirski S, Kieninger S, Agca C, Kim US, Reynier P, Yu-Wai-Man P, Neidhardt J, Wissinger B. Prog Retin Eye Res. 2021 Jul;83:100935. PMID: 33340656 

The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L. Vössing C, Atigbire P, Eilers J, Markus F, Stieger K, Song F, Neidhardt J. Int J Mol Sci. 2021 Mar 30;22(7):3583. PMID: 33808286

2020

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations. Di Iorio V, Karali M, Melillo P, Testa F, Brunetti-Pierri R, Musacchia F, Condroyer C, Neidhardt J, Audo I, Zeitz C, Banfi S, Simonelli F. Invest Ophthalmol Vis Sci. 2020 Dec 1;61(14):36. PMID: 33372982 

Translational Read-Through Therapy of RPGR Nonsense Mutations. Vössing C, Owczarek-Lipska M, Nagel-Wolfrum K, Reiff C, Jüschke C, Neidhardt J. Int J Mol Sci. 2020 Nov 10;21(22):8418.  PMID: 33182541

Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa. Owczarek-Lipska M, Song F, Jakšić V, Neidhardt J. J Gene Med. 2020 Oct;22(10):e3211. PMID: 32367544

Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes. Markus F, Angelini C, Trimouille A, Rudolf G, Lesca G, Goizet C, Lasseaux E, Arveiler B, van Slegtenhorst M, Brooks AS, Abou Jamra R, Korenke GC, Neidhardt J, Owczarek-Lipska M. Mol Genet Genomic Med. 2020 Sep;8(9):e1388. PMID: 32588540 

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. Mol Syndromol. 2020 Jul;11(3):135-140. PMID: 32903878

Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism. Gläser A, Hammerl F, Gräler MH, Coldewey SM, Völkner C, Frech MJ, Yang F, Luo J, Tönnies E, von Bohlen Und Halbach O, Brandt N, Heimes D, Neßlauer AM, Korenke GC, Owczarek-Lipska M, Neidhardt J, Rolfs A, Wree A, Witt M, Bräuer AU. Int J Mol Sci. 2020 Jun 24;21(12):4502. PMID: 32599915 

Nanomolar Responsiveness of an Anaerobic Degradation Specialist to Alkylphenol Pollutants. Vagts J, Weiten A, Scheve S, Kalvelage K, Swirski S, Wöhlbrand L, Neidhardt J, Winklhofer M, Rabus R. J Bacteriol. 2020 Feb 11;pii: JB.00595-19. PMID:31843798

2019

Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation. Breuel S, Vorm M, Bräuer AU, Owczarek-Lipska M, Neidhardt J. Mol Ther Nucleic Acids. 2019 Dec 6;18:123-130.PMID: 31541798 

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. Am J Med Genet A. 2019 Dec;179(12):2447-2453. PMID: 31512363

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. Mol Biol Rep. 2019 Aug;46(4):4507-4516. PMID: 31270756

A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1. Neßlauer AM, Gläser A, Gräler M, Engelmann R, Müller-Hilke B, Frank M, Burstein C, Rolfs A, Neidhardt J, Wree A, Witt M, Bräuer AU. Lipids Health Dis. 2019 Jun 28;18(1):146. PMID: 31248418

Toward genome editing in X-linked RP-development of a mouse model with specific treatment relevant features. Schlegel J, Hoffmann J, Röll D, Müller B, Günther S, Zhang W, Janise A, Vössing C, Fühler B, Neidhardt J, Khanna H, Lorenz B, Stieger K. Transl Res. 2019 Jan;203:57-72. PMID: 30213530.

2018

Antisense Oligonucleotide Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290. Duijkers L, van den Born LI, Neidhardt J, Bax NM, Pierrache LHM, Klevering BJ, Collin RWJ, Garanto A. Int J Mol Sci. 2018 Mar 7;19(3) PMID: 29518907

Eliminating Glutamatergic Input onto Horizontal Cells Changes the Dynamic Range and Receptive Field Organization of Mouse Retinal Ganglion Cells. Ströh S, Puller C, Swirski S, Hölzel MB, van der Linde LIS, Segelken J, Schultz K, Block C, Monyer H, Willecke K, Weiler R, Greschner M, Janssen-Bienhold U, Dedek K. Neurosci. 2018 Jan 19. pii: 0141-17. PMID: 29352045

A Novel C-Terminal Mutation in Gsdma3 (C+/H-) leads to Alopecia and Corneal Inflammatory Response in Mice. Swirski S, Röger C, Pienkowska-Schelling A, Ihlenburg C, Fischer G, May O, Vorm M, Owczarek-Lipska M, Neidhardt J. Invest Ophthalmol Vis Sci. 2018 Jan 1;59(1):561-571. PMID: 29372254 

2017

Afadin controls cell polarization and mitotic spindle orientation in developing cortical radial glia Rakotomamonjy. J, Brunner M, Jüschke C, Zang K, Huang EJ, Reichardt LF, Chenn A. Neural Dev. 2017 May 8;12(1):7. PMID: 28482867

2016

The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family. Reiff C, Owczarek-Lipska M, Spital G, Röger C, Hinz H, Jüschke C, Thiele H, Altmüller J, Nürnberg P, Da Costa R, Neidhardt J. Scientific Reports, 2016, Nov 4;6:36208. PMID: 27812022

A Novel Method Combining Vitreous Aspiration and Intravitreal AAV2/8 Injection Results in Retina-Wide Transduction in Adult Mice. Da Costa R, Röger C, Segelken J, Barben M, Grimm C, Neidhardt J. Investigative Ophthalmology & Visual Science, 2016 Oct 1; Vol.57, 5326-5334. PMID: 27784063

Extraction and analysis of signatures from the Gene Expression Omnibus by the crowd. Wang Z, Monteiro CD, Jagodnik KM, Fernandez NF, Gundersen GW, Rouillard AD, Jenkins SL, Feldmann AS, Hu KS, McDermott MG, Duan Q, Clark NR, Jones MR, Kou Y, Goff T, Woodland H, Amaral FM, Szeto GL, Fuchs O, Schüssler-Fiorenza Rose SM, Sharma S, Schwartz U, Bausela XB, Szymkiewicz M, Maroulis V, Salykin A, Barra CM, Kruth CD, Bongio NJ, Mathur V, Todoric RD, Rubin UE, Malatras A, Fulp CT, Galindo JA, Motiejunaite R, Jüschke C, Dishuck PC, Lahl K, Jafari M, Aibar S, Zaravinos A, Steenhuizen LH, Allison LR, Gamallo P, de Andres Segura F, Dae Devlin T, Pérez-García V, Ma'ayan A. Nature Communications, 2016 Sep 26; 7: 12846. PMID: 27667448

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. PLoS One, 2016 Jul 8; 11(7): e0158692. PMID: 27391102

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. Scientific Reports, 2016 Jun 29; 6:28755. PMID: 27353947

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. Hytönen MK, Arumilli M, Lappalainen AK, Owczarek-Lipska M, Jagannathan V, Hundi S, Salmela E, Venta P, Sarkiala E, Jokinen T, Gorgas D, Kere J, Nieminen P, Drögemüller C, Lohi H. PLoS Genet., 2016, May 12(5): e1006037. PMID: 27187611

Biological antivirals for treatment of adenovirus infections. Schaar K, Röger C, Pozzuto T, Kurreck J, Pinkert S, Fechner H. Antiviral Therapy, 2016;21(7):559-566. PMID: 27032991

2015

Molecular epidemiology of hepatitis B virus infection in Switzerland: a retrospective cohort study. Hirzel C, Wandeler G, Owczarek M, Gorgievski-Hrisoho M, Dufour JF, Semmo N, Zürcher S. BMC Infectious Diseases, 2015, Oct, 15: 483. PMID: 26518625

Enhanced suppression of adenovirus replication by triple combination of anti-adenoviral siRNAs, soluble adenovirus receptor trap sCAR-Fc and cidofovir. Pozzuto T, Röger C, Kurreck J, Fechner H. Antiviral Research, 2015, Aug; 120: 72-78. PMID: 26026665

Expression of an Engineered Soluble Coxsackievirus and Adenovirus Receptor by a Dimeric AAV9 Vector Inhibits Adenovirus Infection in Mice. Röger C, Pozzuto T, Klopfleisch R, Kurreck J, Pinkert S, Fechner H. Gene Therapy, 2015, Jun;22(6):458-66. PMID: 25786873

Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations. Da Costa R, Glaus E, Tiwari A, Kloeckener-Gruissem B, Berger W, Neidhardt J. Gene Therapy, 2015, May; 22(5):413-20. PMID: 25630948

2014

Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome. Haghighi A, Tiwari A, Piri N, Nürnberg G, Saleh-Gohari N, Haghighi A, Neidhardt J, Nürnberg P, Berger W. PLoS One., 2014, Nov;13;9(11), e112747. PMID: 25392994

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. Ann Neurol., 2014, Jan;75(1):147-54. PMID: 24272827

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. Eur J Hum Genet., 2014, Jan;22(1):99-104. PMID: 23591405

2013

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. Hum Mol Genet. 2013 Aug 15;22(16):3218-26. PMID: 23578822

Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. Kloeckener-Gruissem B, Neidhardt J, Magyar I, Plauchu H, Zech JC, Morlé L, Palmer-Smith SM, MacDonald MJ, Nas V, Fry AE, Berger W. Eur J Hum Genet., 2013, Mar;21(3):352-6. PMID: 22739342

A Gene Therapeutic Approach to Correct Splice Defects with Modified U1 and U6 snRNPs. Schmid F, Hiller T, Korner G, Glaus E, Berger W, Neidhardt J. Hum Gene Ther., 2013, Jan;24(1):97-104. PMID: 23075156

2011

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation. Schmid F, Glaus E, Barthelmes D, Fliegauf M, Gaspar H, Nürnberg G, Nürnberg P, Omran H, Berger W, Neidhardt J. Hum Mutat., 2011, Jul;32(7):815-24. PMID: 21520335

Neuartige Therapie bei schweren Erbkrankheiten. University of Zurich press release, UZH News, Title published on Aug 23^rd, 2011

Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells. Glaus E, Schmid F, Da Costa R, Berger W, Neidhardt J. Mol Ther., 2011, May;19(5):936-41. PMID: 21326217

2010

The molecular basis of human retinal and vitreoretinal diseases. Berger W, Kloeckener-Gruissem B, Neidhardt J. Review article, Prog Retin Eye Res., 2010, Sep;29(5):335-75. PMID: 20362068

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. Invest Ophthalmol Vis Sci., 2010, Aug;51(8):4253-65. PMID: 20335603

Alterations of the 5'untranslated leader region of SLC16A12 lead to age-related cataract. Zuercher J, Neidhardt J, Magyar I, Labs S, Moore AT, Tanner F, Waseem NH, Schorderet D, Munier FL, Bhattacharya SS, Berger W, Kloeckener-Gruissem B. Invest Ophthalmol Vis Sci., 2010, Jul;51(7):3354-61. PMID: 20181839

Short DNA sequences inserted for gene targeting can accidentally interfere with off-target gene expression. The first three authors contributed equally: Meier ID, Bernreuther C, Tilling T, Neidhardt J, Wee Wong Y, Schulze C, Streichert T, Schachner M. FASEB J., 2010, Jun;24(6):1714-24. PMID: 20110269

Mutation- and tissue-specific alterations of RPGR transcripts. Schmid F, Glaus E, Cremers FPM, Berger W, Neidhardt J, Invest Ophthalmol Vis Sci., 2010, Mar;51(3):1628-35. PMID: 19834030

Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds. Brunner S, Skosyrsky S, Kirschner-Schwabe R, Knobeloch KP, Neidhardt J, Feil S, Glaus E, Luhmann UF, Rüther K, BergerW. Invest Ophthalmol Vis Sci., 2010, Feb;51(2):1106-15. PMID: 20007830

2009

Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA. Tanner G, Glaus E, Barthelmes D, Ader M, Fleischhauer J, Pagani F, Berger W, Neidhardt J, Hum Mutat., 2009; Feb;30(2), 255–263. PMID: 18837008

2008

Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly. Brunner S, Colman D, Travis AJ, Luhmann UF, Shi W, Feil S, Imsand C, Nelson J, Grimm C, Rülicke T, Fundele R, Neidhardt J, Berger W. Biol Reprod., 2008, Oct;79(4):608-17. PMID: 18579752

Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. Zeitz C, Gross AK, Leifert D, Kloeckener-Gruissem B, McAlear S, Lemke J, Neidhardt J, Berger W. Invest Ophthalmol Vis Sci., 2008, Sep;49(9):4105-14. PMID: 18487375

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W. Mol Vis. 2008, Jun 6;14:1081-93. PMID: 18552978

Vascular changes in the cerebellum of Norrin/Ndph knockout mice correlate with high expression of Norrin and Frizzled-4. The first two authors contributed equally: Luhmann UFO, Neidhardt J, Kloeckener-Gruissem B, Schäfer NF, Glaus E, Feil S, Berger W. Eur J Neuosci., 2008, May;27(10):2619-28. PMID: 18547247

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. Kloeckener-Gruissem B, Vandekerckhove K, Nürnberg G, Neidhardt J, Zeitz C, Nürnberg P, Schipper I, Berger W, Am J Hum Genet. 2008, Mar;82(3):772-9. PMID: 18304496

2007

Identification and characterization of a novel RPGR isoform in human retina. Neidhardt J, Glaus E, Barthelmes D, Zeitz C, Fleischhauer JC, Berger W, Hum Mutat., 2007, Aug;28(8):797-807. PMID: 17405150

Night blindness-associated mutations in the ligand-binding, cysteine-rich and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. Zeitz C, Forster U, Neidhardt J, Feil S, Kälin S, Leifert D, Flor P, Berger W, Hum Mutat., 2007, Aug;28(8):771-80

2006

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Wycisk KA, Zeitz C, Feil S, Wittmer M, Forster U, Neidhardt J, Wissinger B, Zrenner E, Wilke R, Kohl S, Berger W. Am J Hum Genet., 2006, Nov;79(5):973-7. PMID: 18304496

Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Wycisk KA, Budde B, Feil S, Skosyrski S, Buzzi F, Neidhardt J, Glaus E, Nürnberg P, Ruether K , Berger W. Invest Ophthalmol Vis Sci., 2006, Aug;47(8):3523-30. PMID: 16877424

Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Neidhardt J, Barthelmes D, Farahmand F, Fleischhauer JC, Berger W, Invest Ophthalmol Vis Sci., 2006, Apr;47(4):1630-5. PMID: 16565402

2005

Viral and nonviral gene therapy for treatment of retinal diseases. Neidhardt J, Wycisk K, Kloeckener-Gruissem B. Review article, 2005, Ophthalmologe, 102(8):764-71. PMID: 16012813

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Mátyás G, Hoyng CB, Riemslag F, Meire F, Cremers FP, Berger W. Invest Ophthalmol Vis Sci. 2005 Nov;46(11):4328-35. doi: 10.1167/iovs.05-0526.PMID: 16249515. PMID: 16249515