Results 121 to 130 of about 654 (133)

Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy

Ophthalmic Genetics, 2023
Mark Breazzano, Aaron Priluck
exaly  

Duplikation im MFSD8 Gen bei einem Kaninchen mit neuronaler Zeroid-Lipofuszinose

Tierärztliche Praxis Ausgabe K: Kleintiere / Heimtiere, 2022
KM Gregor, M Christen, A Böttcher-Künneke, W Baumgärtner, V Jagannathan, T Leeb, C Puff   +6 more
openaire   +1 more source

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8

Genes, 2023
Giuseppe Marangi, Marcella Zollino, Chiara Veredice   +2 more
exaly  

A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability

International Journal of Molecular Sciences, 2022
Tobias Haack, Ludger Schols, Nicole Weißschuh   +2 more
exaly  

Novel genotypes of MFSD8 presenting with adult onset macular dystrophy

Molecular Genetics and Metabolism
Erin Falsey, Miguel Barajas, Robert A. Hyde   +2 more
openaire   +1 more source

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

Clinical Genetics, 2020
Brecht Guillemyn, Frauke Coppieters, Riet De Rycke   +2 more
exaly  

Interaktionen von CLN7/MFSD8 mit SARS-CoV-2 und dem Lipid Raft-Marker GM1

Mutations in the CLN7/MFSD8 gene cause neuronal ceroid lipofuscinosis type 7 (NCL7), a rare hereditary lysosomal storage disorder with onset in early childhood. The disease follows a severe neurodegenerative course, characterized by symptoms such as epileptic seizures, blindness, and cognitive as well as motor decline.
openaire   +2 more sources

Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs

European Journal of Paediatric Neurology, 2015
Mihaela Gherghiceanu, Mihai Craiu, Dorota Hoffman-Zacharska   +2 more
exaly  

MFSD8 single‐base pair deletion in a Chihuahua with neuronal ceroid lipofuscinosis

Animal Genetics, 2016
Karli, Philemon, Oevermann, Anna, Bauer, Anina, Jagannathan, Vidya, Leeb, Tosso   +4 more
openaire   +3 more sources

MFSD8 gene mutations; evidence for phenotypic heterogeneity

Ophthalmic Genetics, 2019
Davood Zare-Abdollahi, Mohammad Dehani, Alireza Dehghani   +2 more
exaly