Detalhe da pesquisa
1.
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
J Med Genet
; 61(2): 186-195, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734845
2.
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.
J Med Genet
; 59(10): 1027-1034, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091433
3.
Central retina plays a decisive role in the suppression of pupillary escape.
Graefes Arch Clin Exp Ophthalmol
; 261(6): 1713-1722, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36645454
4.
Influence of Patient Age and Presence of Optic Disc Drusen on Fluctuations in Retinal Nerve Fiber Layer Thickness.
J Neuroophthalmol
; 43(3): 348-352, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36730153
5.
Characteristics of peripapillary retinal nerve fiber layer atrophy in glaucoma, optic nerve sheath meningioma, and sphenoid wing meningioma.
Graefes Arch Clin Exp Ophthalmol
; 260(2): 577-581, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34554296
6.
How lesions at different locations along the visual pathway influence pupillary reactions to chromatic stimuli.
Graefes Arch Clin Exp Ophthalmol
; 260(5): 1675-1685, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34902059
7.
[Optical coherence tomography in the differential diagnostics of important neuro-ophthalmological disease patterns]. / Die optische Kohärenztomographie in der Differenzialdiagnostik wichtiger neuroophthalmologischer Krankheitsbilder.
Nervenarzt
; 93(6): 629-642, 2022 Jun.
Artigo
em Alemão
| MEDLINE | ID: mdl-35612648
8.
Leber's hereditary optic neuropathy: course of disease in consideration of idebenone treatment and type of mutation.
Graefes Arch Clin Exp Ophthalmol
; 259(4): 1009-1013, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33337510
9.
First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report.
BMC Med Genet
; 21(1): 236, 2020 11 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33243194
10.
Optic neuritis in German children: clinical findings and association with multiple sclerosis.
Graefes Arch Clin Exp Ophthalmol
; 258(7): 1523-1526, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32274587
11.
[Visual Acuity and Visual Field in Optic Disc Drusen]. / Visus und Gesichtsfeld bei Drusenpapillen.
Klin Monbl Augenheilkd
; 236(11): 1298-1303, 2019 Nov.
Artigo
em Alemão
| MEDLINE | ID: mdl-31639882
12.
[Optic Disc Drusen]. / Drusenpapillen.
Klin Monbl Augenheilkd
; 236(11): 1292-1297, 2019 Nov.
Artigo
em Alemão
| MEDLINE | ID: mdl-31416098
13.
Correction to: Optic neuritis in German children: clinical findings and association with multiple sclerosis.
Graefes Arch Clin Exp Ophthalmol
; 259(11): 3523, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34524499
14.
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
Brain
; 137(Pt 8): 2164-77, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24970096
15.
Assessing visual acuity across five disease types: ETDRS charts are faster with clinical outcome comparable to Landolt Cs.
Graefes Arch Clin Exp Ophthalmol
; 252(7): 1093-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24867313
16.
[Optical coherence tomography in the differential diagnostics of important neuro-ophthalmological disease patterns]. / Die optische Kohärenztomographie in der Differenzialdiagnostik wichtiger neuroophthalmologischer Krankheitsbilder.
Ophthalmologie
; 119(9): 973-986, 2022 Sep.
Artigo
em Alemão
| MEDLINE | ID: mdl-35994098
17.
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.
PLoS One
; 16(7): e0253987, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34242285
18.
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Brain Commun
; 3(2): fcab063, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34056600
19.
Loss of the cholesterol-binding protein prominin-1/CD133 causes disk dysmorphogenesis and photoreceptor degeneration.
J Neurosci
; 29(7): 2297-308, 2009 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-19228982
20.
Correction to: Retrospective analysis of fractionated intensity-modulated radiotherapy (IMRT) in the interdisciplinary management of primary optic nerve sheath meningiomas.
Radiat Oncol
; 15(1): 268, 2020 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33213504