Detalhe da pesquisa
1.
Specific Changes in OCT Imaging Associated with a Novel Mutation of the RS1 Gene in X-Linked Retinoschisis. / Spezifische OCT-Veränderungen bei einer neuen Mutation im RS1-Gen bei X-chromosomal-rezessiver Retinoschisis.
Klin Monbl Augenheilkd
; 239(12): 1473-1477, 2022 Dec.
Artigo
em Inglês, Alemão
| MEDLINE | ID: mdl-36493766
2.
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.
Int J Mol Sci
; 22(12)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203883
3.
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period.
Hum Mutat
; 41(9): 1514-1527, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32531858
4.
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
Mol Biol Rep
; 46(4): 4507-4516, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31270756
5.
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.
Neurol Res Pract
; 4(1): 5, 2022 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35101151
6.
A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease.
Sci Transl Med
; 12(560)2020 09 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32908004
7.
Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson's disease.
Science
; 357(6357): 1255-1261, 2017 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-28882997
8.
X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?
Neurol Genet
; 5(3): e327, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31192301