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Publications by R. Highley

ALS Phenotypes With Mutations in CHMP2B (Charged Multivesicular Body Protein 2B)

English

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Glucocerebrosidase Mutations and Neuropsychiatric Phenotypes in Parkinson's Disease and Lewy Body Dementias: Review and Meta-Analyses

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Clinical and Neuropathological Features of ALS/FTD With TIA1 Mutations

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Vps20p and Vta1p Interact With Vps4p and Function in Multivesicular Body Sorting and Endosomal Transport in Saccharomyces Cerevisiae

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Unstable Mutations in the FMR1 Gene and the Phenotypes

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Heterogeneous Pulmonary Phenotypes Associated With Mutations in the Thyroid Transcription Factor Gene NKX2-1

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Familial ALS With G298S Mutation in TARDBP: A Comparison of CSF Tau Protein Levels With Those in Sporadic ALS

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Evolution: How Many Phenotypes Do Regulatory Mutations Affect?

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