Retinal pathology in GM 1 gangliosidosis, type II

Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.

Molecular genetics and metabolism·2016

Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study.

Romanian journal of internal medicine = Revue roumaine de medecine interne·2011

Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1.

Neuropediatrics·2010

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.

Neurology·2010

Macrophagic myofasciitis plus (distinct types of muscular dystrophy).

Neuropediatrics·2010

Consequences of mutations within the C terminus of the FHL1 gene.

Neurology·2009

Incidence and Risk Factors of Glaucoma in a Health Screening Cohort: Findings Over 10 Years from the Gangnam Eye Cohort Study.

American journal of ophthalmology·2026

Repeat Gene Expression Profiling, PRAME Status, and Next-Generation Sequencing Testing in Uveal Melanoma Undergoing Secondary Therapy.

American journal of ophthalmology·2026

Central Serous Chorioretinopathy in patients with preexisting immune-mediated disorders: MICRoN report 21.

American journal of ophthalmology·2026

Peripheral Retinal Vascular Biomarkers on Ultra-Widefield OCT Angiography for Severity Grading in Retinitis Pigmentosa.

American journal of ophthalmology·2026

Outcomes of Strabismus Procedures in Children with Perinatal Brain Injury.

American journal of ophthalmology·2026

Describing Candidate Geographic Atrophy Phenotypes and Their Different Growth Parameters.

American journal of ophthalmology·2026

Mixed evidence that dosage sensitive genes drive global dosage compensation in flour beetles.

Genome biology and evolution·2026

[Genetic analysis of a fetus with Short-rib thoracic dysplasia 8 with or without polydactyly due to variants of DYNC2I1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

NR5A1 gene variants: variable phenotypes, new variants, and genotype-phenotype correlations.

Frontiers in endocrinology·2026

[Genetic Dystonias].

Medicina·2026

Genetic frontotemporal degeneration across the lifespan? A critical appraisal of the neurodevelopmental hypothesis.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026

Uncovering the Role of Biological Sex in the Divergent Genetic Profiles of Early and Late-Diagnosed.

Behavior genetics·2026

Related Experiment Videos

Retinal pathology in GM 1 gangliosidosis, type II

Related Concept Videos

Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.

Protein aggregation in inclusion body myositis, a sporadic form among protein aggregate myopathies, and in myofibrillar myopathies--a comparative study.

Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1.

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.

Macrophagic myofasciitis plus (distinct types of muscular dystrophy).

Consequences of mutations within the C terminus of the FHL1 gene.

Incidence and Risk Factors of Glaucoma in a Health Screening Cohort: Findings Over 10 Years from the Gangnam Eye Cohort Study.

Repeat Gene Expression Profiling, PRAME Status, and Next-Generation Sequencing Testing in Uveal Melanoma Undergoing Secondary Therapy.

Central Serous Chorioretinopathy in patients with preexisting immune-mediated disorders: MICRoN report 21.

Peripheral Retinal Vascular Biomarkers on Ultra-Widefield OCT Angiography for Severity Grading in Retinitis Pigmentosa.

Outcomes of Strabismus Procedures in Children with Perinatal Brain Injury.

Describing Candidate Geographic Atrophy Phenotypes and Their Different Growth Parameters.

Mixed evidence that dosage sensitive genes drive global dosage compensation in flour beetles.

[Genetic analysis of a fetus with Short-rib thoracic dysplasia 8 with or without polydactyly due to variants of DYNC2I1 gene].

NR5A1 gene variants: variable phenotypes, new variants, and genotype-phenotype correlations.

[Genetic Dystonias].

Genetic frontotemporal degeneration across the lifespan? A critical appraisal of the neurodevelopmental hypothesis.

Uncovering the Role of Biological Sex in the Divergent Genetic Profiles of Early and Late-Diagnosed.

Related Experiment Videos

Retinal pathology in GM 1 gangliosidosis, type II

Related Concept Videos

Related Articles