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Publications by Roseline Froissart

Adult Polyglucosan Body Disease: Natural History and Key Magnetic Resonance Imaging Findings

Annals of Neurology

English

A New Case of SMA Phenotype Without Epilepsy Due to Biallelic Variants in ASAH1

European Journal of Human Genetics

English

A National French Consensus on Gene Lists for the Diagnosis of Myopathies Using Next-Generation Sequencing

European Journal of Human Genetics

English

Molecular Analysis of Mucopolysaccharidosis Type I in Tunisia: Identification of Novel Mutation and Eight Novel Polymorphisms

Diagnostic Pathology

Forensic Medicine

English

Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood

Internal Medicine

Molecular Biology

English

A Rare Late Progression Form of Sly Syndrome Mucopolysaccharidosis

Internal Medicine

Molecular Biology

English