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Publications by Matthis Synofzik

Autosomal Recessive Cerebellar Ataxias: Paving the Way Toward Targeted Molecular Therapies

English

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

American Journal of Human Genetics

English

Loss of Paraplegin Drives Spasticity Rather Than Ataxia in a Cohort of 241 Patients With SPG7

English

A Pan-European Study of theC9orf72Repeat Associated With FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

English

De Novo ITPR1 Variants Are a Recurrent Cause of Early-Onset Ataxia, Acting via Loss of Channel Function

European Journal of Human Genetics

English

Recommendations for Patient Screening in Ultra-Rare Inherited Metabolic Diseases: What Have We Learned From Niemann-Pick Disease Type C?

Orphanet Journal of Rare Diseases

English

Sensorimotor Recalibration Depends on Attribution of Sensory Prediction Errors to Internal Causes

Multidisciplinary

English

Analysis of Brain Atrophy and Local Gene Expression Implicates Astrocytes in Frontotemporal Dementia

English