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Publications by F. Pilot-Storck
A Canine Arylsulfatase G (ARSG) Mutation Leading to a Sulfatase Deficiency Is Associated With Neuronal Ceroid Lipofuscinosis
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Related publications
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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Infantile Neuronal Ceroid Lipofuscinosis
Pupillary Light Reflex Deficits in a Canine Model of Late Infantile Neuronal Ceroid Lipofuscinosis
Experimental Eye Research
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Multifocal Retinopathy in Dachshunds With CLN2 Neuronal Ceroid Lipofuscinosis
Experimental Eye Research
Molecular Neuroscience
Ophthalmology
Sensory Systems
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Molecular Genetic Studies of Canine Inherited Diseases Including SAMS, Neuronal Ceroid Lipofuscinosis and Dilated Cardiomyopathy
Pupillary Light Reflex Deficits in a Canine Model of Neuronal Ceroid Lipofuscinosis and the Effects of Enzyme Replacement Therapy
Neuronal Ceroid Lipofuscinosis Type 2: An Australian Case Series
Journal of Paediatrics and Child Health
Child Health
Pediatrics
Perinatology
Dissimilar Neuropsychiatric Presentations of Two Siblings With Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease)
Journal of Neuropsychiatry and Clinical Neurosciences
Medicine
Psychiatry
Mental Health
Neurology
Current Therapies for the Soluble Lysosomal Forms of Neuronal Ceroid Lipofuscinosis
Biochemical Society Transactions
Biochemistry