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Publications by Patricia Pons
Neuronal Ceroid Lipofuscinosis Type CLN2: A New Rationale for the Construction of Phenotypic Subgroups Based on a Survey of 25 Cases in South America
Gene
Medicine
Genetics
Related publications
Multifocal Retinopathy in Dachshunds With CLN2 Neuronal Ceroid Lipofuscinosis
Experimental Eye Research
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Infantile Neuronal Ceroid Lipofuscinosis
Ovine Neuronal Ceroid Lipofuscinosis: A Large Animal Model Syntenic With the Human Neuronal Ceroid Lipofuscinosis Variant CLN6.
Journal of Medical Genetics
Genetics
Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease)
Scientific Reports
Multidisciplinary
Neuronal Ceroid Lipofuscinosis Type 2: An Australian Case Series
Journal of Paediatrics and Child Health
Child Health
Pediatrics
Perinatology
Ex Vivo Gene Therapy for the Preservation of Retinal and Central Nervous System Structure and Function in a Canine Model of CLN2 Neuronal Ceroid Lipofuscinosis
Current Therapies for the Soluble Lysosomal Forms of Neuronal Ceroid Lipofuscinosis
Biochemical Society Transactions
Biochemistry
Pupillary Light Reflex Deficits in a Canine Model of Late Infantile Neuronal Ceroid Lipofuscinosis
Experimental Eye Research
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Proteolytic Processing of the Neuronal Ceroid Lipofuscinosis Related Lysosomal Protein CLN5
Experimental Cell Research
Cell Biology
