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Publications by Inés Adriana Cismondi
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
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Multifocal Retinopathy in Dachshunds With CLN2 Neuronal Ceroid Lipofuscinosis
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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
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Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease)
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Neuronal Ceroid Lipofuscinosis Type 2: An Australian Case Series
Journal of Paediatrics and Child Health
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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
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Pupillary Light Reflex Deficits in a Canine Model of Late Infantile Neuronal Ceroid Lipofuscinosis
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Proteolytic Processing of the Neuronal Ceroid Lipofuscinosis Related Lysosomal Protein CLN5
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