Clinical Neurogenetics
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- 2018
- SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies
- 2017
- Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder
- New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism
- PBB3 imaging in Parkinsonian disorders : Evidence for binding to tau and other proteins
- PBB3 Imaging in Parkinsonian disorders: Evidence for binding to abnormally aggregated proteins in addition to tau proteins
- Ataxia-pancytopenia syndrome with SAMD9L mutations
- Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS and neurological symptoms
- 2016
- Wilson disease: Acute dystonia during treatment with SSRI or SNRI
- Autosomal dominant Parkinson's disease caused by SNCA duplications.
- 18F-AV-1451 tau PET imaging correlates strongly with tau neuropathology in MAPT mutation carriers