Expanding the role of MAST kinases in brain development and epilepsy: identification of de novo pathogenic variants in MAST4

Improving care for rare disease patients in Europe - Rare Disease Day 2021

Lysosomal storage disorders and their unanticipated links to rare and common diseases

Lysosomal storage diseases are a group of over 70 inherited metabolic disorders, many of which have a neurodegenerative clinical course. Treatments have been developed for a subset of these disorders and are now in routine clinical use. We have found that some neurological and neurodegenerative diseases share unanticipated links to lysosomal storage diseases providing insights into disease pathogenesis. These links also suggest treatments developed for lysosomal disorders may have unanticipated utility in other rare and common diseases.

Treatment of spasticity in HSP and leukodystrophies

Hereditary Spastic Paraplegia (HSP): clinical disease course

How can we develop and implement evidence based rehabilitation in rare disorders?

A challenge in neurogenetics: Huntington disease in kids

How to assess and manage spastic gait in rare diseases?

Semantic variant of primary progressive aphasia, clinical manifestation and underlying neuropathology