ArticleJIMD reports2019
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.
Article in JIMD reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
10 citing papers in PubMed, 16 citations in OpenAlex.
- 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.Orphanet journal of rare diseases · 2024Article
- Pediatric onset neuronal ceroid lipofuscinoses: Unraveling clinical and genetic specifications.Pakistan journal of medical sciences · 2024Article
- Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants.Molecular genetics & genomic medicine · 2024Article
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- A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.Cellular and molecular life sciences : CMLS · 2021Review
- Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease.International journal of molecular sciences · 2020Review
- Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses.AJNR. American journal of neuroradiology · 2020Article
- High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.JIMD reports · 2019Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeuronal ceroid lipofuscinoses are neurodegenerative disorders. To investigate the diagnostic yield of direct Sanger sequencing of the
methodsWe reviewed electronic patient charts. We used consent forms and Research Electronic Data Capture questionnaires for the patients from outside of our Institution. We reclassified all variants in the
resultsSix hundred and ninety three individuals underwent the direct Sanger sequencing of the
conclusionIn our study, the diagnostic yield of direct Sanger sequencing was close to diagnostic yield of whole exome sequencing. Developmental regression, cognitive decline, visual impairment and cerebral and/or cerebellar atrophy in brain MRI are significant clinical and neuroimaging denominators to include NCL in the differential diagnosis.
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