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Last Updated: 03/06/2025
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Found 2565 publications
2024 Scholars' Research Symposium Abstract: Sex-Split Analysis of Pathology and Motor-Behavioral Outcomes in a Mouse Model Of CLN8-Batten Disease.
Journal: South Dakota medicine : the journal of the South Dakota State Medical Association
Published: January 17, 2025
Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse models.
Journal: Science translational medicine
Published: January 15, 2025
Twenty-Year Survival Analysis of Adeno-Associated Virus Vector Serotype 2-Mediated Gene Therapy to the Central Nervous System for CLN2 Disease.
Journal: Human gene therapy
Published: January 02, 2025
Clinical, Pathological, and Molecular Findings in a Mexican Patient With Neuronal Ceroid Lipofuscinosis Type 2: Support for Pathogenicity of the c.1226 G>T Variant and for Presence of Cherry-Red Spot in This Disease.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: December 24, 2024
Study of a case of Juvenile neuronal ceroid lipofuscinosis due to compound heterozygous variants of PPT1 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: December 09, 2024
A Novel Variant of the CTSD Gene Associated with Juvenile-onset Neuronal Ceroid Lipofuscinosis Type 10: A Case Report and Literature Review.
Journal: Cerebellum (London, England)
Published: December 03, 2024
Genetic and Cellular Basis of Impaired Phagocytosis and Photoreceptor Degeneration in CLN3 Disease.
Journal: Investigative ophthalmology & visual science
Published: November 13, 2024
Trehalose Ameliorates Zebrafish Emotional and Social Deficits Caused by CLN8 Dysfunction.
Journal: Cells
Published: November 07, 2024
Adult-onset neuronal ceroid lipofuscinosis misdiagnosed as autoimmune encephalitis and normal-pressure hydrocephalus: A 10-year case report and case-based review.
Journal: Medicine
Published: October 29, 2024
A rare family of SMA combined with type B Kufs disease.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: October 24, 2024
Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases.
Journal: Journal of the neurological sciences
Published: October 19, 2024
Last Updated: 03/06/2025