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Beneficial Effects of Acetyl-DL-Leucine (ADLL) in a Mouse Model of Sandhoff Disease

Journal article

PLATT F. et al, (2020), Journal of Clinical Medicine

Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms.

Journal article

Viana GM. et al, (2020), J Clin Med, 9

Targeting GLB1 in mice by CRISPR/Cas9 genome editing: Establishing a novel model for type II GM1 gangliosidosis

Conference paper

Nicoli E-R. et al, (2020), MOLECULAR GENETICS AND METABOLISM, 129, S116 - S116

Brain pathology in MPS patients with neurological forms

Journal article

PRIESTMAN D. and PLATT F., (2020), Journal of Clinical Medicine

Genetic Background Modifies Phenotypic Severity and Longevity in a Mouse Model of Niemann-Pick Disease Type C1

Journal article

PLATT F. and HUEBECKER M., (2020), Disease Models and Mechanisms

NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology

Journal article

PLATT F. and Rodriguez-Gil J., (2019), Journal of Clinical Medicine

Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease type C and Tangier disease

Journal article

COLACO A. et al, (2019), Journal of Inherited Metabolic Disease

Sterile activation of invariant natural killer T cells by ER-stressed antigen-presenting cells.

Journal article

Bedard M. et al, (2019), Proc Natl Acad Sci U S A

NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress.

Journal article

Höglinger D. et al, (2019), Nat Commun, 10

Age-related gait standards for healthy children and young people: the GOS-ICH paediatric gait centiles.

Journal article

Alderson LM. et al, (2019), Arch Dis Child, 104, 755 - 760

Publisher Correction: Lysosomal storage diseases.

Journal article

Platt FM. et al, (2019), Nat Rev Dis Primers, 5

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