Associated Papers
Neuronal Ceroid Lipofuscinoses Type 7 (CLN7)- A Case Series Reporting Cross Sectional and Retrospective Clinical Data to Evaluate Validity of Standardized Tools to Assess Disease Progression, Quality of Life, and Adaptive Skills.
Kayani S et al.
Research Square, 2024
Haploidentical haematopoietic stem cell transplantation combined with post-transplant cyclophosphamide in neuronal ceroid lipofuscinosis: Experience in eight patients.
Song Z et al.
Medicina Clinica, 2024
Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy.
Priluck AZ et al.
Ophthalmic Genetics, 2023
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.
Pasquetti D et al.
Genes, 2023
Antisense therapies in neurological diseases.
Brunet de Courssou JB et al.
Brain : a Journal of Neurology, 2022
AAV9/MFSD8 gene therapy is effective in preclinical models of neuronal ceroid lipofuscinosis type 7 disease.
Chen X et al.
The Journal of Clinical Investigation, 2022
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
Reith M et al.
International Journal of Molecular Sciences, 2022
Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseases.
Nisar H et al.
Experimental Biology and Medicine (maywood, N.j.), 2021
Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy.
Xiang Q et al.
Journal of Ophthalmology, 2021
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
Bauwens M et al.
Clinical Genetics, 2020
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.
Kim J et al.
The New England Journal of Medicine, 2019
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
Roosing S et al.
Ophthalmology, 2015
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.
Aldahmesh MA et al.
Neurogenetics, 2009
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.
Siintola E et al.
American Journal of Human Genetics, 2007
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