Results 111 to 120 of about 654 (133)

Mutation analysis of MFSD8 in an amyotrophic lateral sclerosis cohort from mainland China

European Journal of Neuroscience, 2020
Abstract Recent studies have suggested that rare variants in MFSD8 contribute to risk for frontotemporal dementia (FTD). Considering the common underlying pathogenesis and the shared genetic risk between amyotrophic lateral sclerosis (ALS) and FTD, we screened the coding ...
Ling Huang, Zhen Liu, Yanchun Yuan, Lu Shen, Hong Jiang, Beisha Tang, Junling Wang, Lifang Lei   +7 more
openaire   +2 more sources

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

Ophthalmic Genetics, 2022
MFSD8 mutations can cause type 7 neuronal ceroid lipofuscinosis, a systemic disorder that includes vision loss; however, such mutations can also cause isolated retinal dystrophy with vision loss without systemic signs or symptoms as first identified in 2015.
Aaron Z. Priluck, Mark P. Breazzano
openaire   +2 more sources

Multimodal retinal imaging in MFSD8-neuronal ceroid lipofuscinosis

Ophthalmic Genetics, 2019
We read with interest the recent article by Zare-Abdollahi et al where it was suggested that two recessive missense variants in MSFD8 (c.1235C>T; p.P412L and c.1361T>C; p.M454T), which each have be...
Moustafa Magliyah, Osama AlRaddadi, Abdullah Balbaid, Patrik Schatz   +3 more
openaire   +1 more source

Exploring the Potential Mechanism of Apoptosis Induced by MFSD8 in Endothelial Cells: an RNA Sequencing and Bioinformatics Analysis

Molecular Biology
Q Xiang, Li J M, Tang L
exaly   +2 more sources

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene

European Journal of Medical Genetics, 2014
Neuronal ceroid lipofuscinosis (NCL) refers to a growing heterogeneous group of neurodegenerative disorders characterized by lysosomal accumulation of abnormal autofluorescent material. NCLs are traditionally classified clinically according to their age of onset.
Hanna, Mandel, Ksenya, Cohen Katsanelson, Morad, Khayat, Ilana, Chervinsky, Eugene, Vladovski, Theodor C, Iancu, Margarita, Indelman, Yoseph, Horovitz, Eli, Sprecher, Stavit A, Shalev, Ronen, Spiegel   +10 more
openaire   +2 more sources

MULTIMODAL IMAGING OF A NOVEL MFSD8/CLN7 MUTATION ASSOCIATED WITH NONSYNDROMIC SYMMETRIC ADULT-ONSET MACULAR DYSTROPHY

RETINAL Cases & Brief Reports
Purpose: The objective of this study was to report multimodal imaging features of a novel MFSD8/CLN7 pathogenic variant associated with bilateral and symmetric nonsyndromic macular dystrophy. Methods: A 63-year-old female patient presented complaining of a gradual subjective decline
Gelormini, Francesco, Vallino, Veronica, Breazzano, Mark P., Pasini, Barbara, Reibaldi, Michele, Borrelli, Enrico   +5 more
openaire   +3 more sources

UNRAVELING CLN7 disease: the distinct roles of two close MFSD8/CLN7 splice variants in phenotypic expression

Human Molecular Genetics
Abstract CLN7 is a lysosomal storage disease caused by pathogenic variants in the MFSD8/CLN7 gene. Typically neurodegenerative, patients present seizures and developmental delay since 2–6 years of age and a rapid psychomotor, verbal, and visual deterioration that leads to premature death. However, ‘atypical’ cases have also been reported.
Ana Clara, Venier, Sofía, Savy, Gerardo, Carro, Guillermo, Guelbert, Ezequiel, Grondona, Norberto, Guelbert, Juan Pablo, Nicola, Favio, Pesaola, Ana Lucía, De Paul   +8 more
openaire   +2 more sources

MFSD8 ‐Related CLN7 Disease with Adult‐Onset Cerebellar Ataxia: A Five‐Patient Case Series

Movement Disorders Clinical Practice
Abstract Background Adult‐onset recessive cerebellar ataxias comprise a heterogeneous group of disorders. Objectives To describe a founder MFSD8 ...
Pooja Sharma, Ayush Agarwal, Tiyasha De, Jupita Handique, Kriti Kashyap, Divyani Garg, Ajay Garg, Shahrumi Reza, Akhilesh Kumar Sonakar, Achal K. Srivastava, Mohammed Faruq   +10 more
openaire   +2 more sources

A novel ocular phenotype associated with pathogenic variants in MFSD8 leading to macular dystrophy

Ophthalmic Genetics, 2023
Sumit Sharma, Madeline Beckman, Meghan Marino   +2 more
exaly  

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants

International Journal of Molecular Sciences, 2022
Veronika Vaclavik, Daniel Schorderet, Beatrice Bocquet   +2 more
exaly