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Publications by M. Abitbol

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

English

Human Myosin VIIA Responsible for the Usher 1B Syndrome: A Predicted Membrane-Associated Motor Protein Expressed in Developing Sensory Epithelia.

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Related publications

Ovine Neuronal Ceroid Lipofuscinosis: A Large Animal Model Syntenic With the Human Neuronal Ceroid Lipofuscinosis Variant CLN6.

Journal of Medical Genetics

English

Infantile Neuronal Ceroid Lipofuscinosis

English

Pupillary Light Reflex Deficits in a Canine Model of Late Infantile Neuronal Ceroid Lipofuscinosis

Experimental Eye Research

Molecular Neuroscience

Sensory Systems

English

Multifocal Retinopathy in Dachshunds With CLN2 Neuronal Ceroid Lipofuscinosis

Experimental Eye Research

Molecular Neuroscience

Sensory Systems

English

Molecular Genetic Studies of Canine Inherited Diseases Including SAMS, Neuronal Ceroid Lipofuscinosis and Dilated Cardiomyopathy

English

Pupillary Light Reflex Deficits in a Canine Model of Neuronal Ceroid Lipofuscinosis and the Effects of Enzyme Replacement Therapy

English

Neuronal Ceroid Lipofuscinosis Type 2: An Australian Case Series

Journal of Paediatrics and Child Health

English

Dissimilar Neuropsychiatric Presentations of Two Siblings With Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease)

Journal of Neuropsychiatry and Clinical Neurosciences

English

Current Therapies for the Soluble Lysosomal Forms of Neuronal Ceroid Lipofuscinosis

Biochemical Society Transactions

English