Clinical Neurogenetics
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- 2018
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Mark
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies
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- Contribution to journal › Article
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Mark
Will FTLD-tau work for all when FTDP-17 retires?
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- Contribution to journal › Article
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Mark
LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies : a genome-wide linkage and sequencing study
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- Contribution to journal › Article
- 2017
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Mark
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS and neurological symptoms
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- Contribution to journal › Article
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Mark
Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism
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- Contribution to journal › Article
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Mark
Ataxia-pancytopenia syndrome with SAMD9L mutations
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- Contribution to journal › Article
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Mark
New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism
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- Contribution to journal › Scientific review
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Mark
PBB3 Imaging in Parkinsonian disorders: Evidence for binding to abnormally aggregated proteins in addition to tau proteins
2017) 21st International Congress of Parkinson's Disease and Movement Disorders In Movement Disorders 32(Suppl 2). p.585-587(
- Contribution to journal › Published meeting abstract
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Mark
Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder
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- Contribution to journal › Letter
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Mark
PBB3 imaging in Parkinsonian disorders : Evidence for binding to tau and other proteins
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- Contribution to journal › Article