Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

Marka van Blitterswijk, Mariely DeJesus‐Hernandez, Ellis Niemantsverdriet, +17

The Lancet Neurology

Disease ProgressionMedicineGenetic EpidemiologyPathologyRepeat Sizes +6

<i>CSF1R</i> mutations link POLD and HDLS as a single disease entity

Alexandra M. Nicholson, Matt Baker, NiCole A. Finch, +9

Neurology

Targeted manipulation of the sortilin–progranulin axis rescues progranulin haploinsufficiency

Chris W. Lee, Sandra Almeida, Mercedes Prudencio, +14

Human Molecular Genetics

TYROBP genetic variants in early-onset Alzheimer's disease

Cyril Pottier, Thomas A. Ravenscroft, Patricia H. Brown, +27

Neurobiology of Aging

Neurodegenerative DiseasesAlzheimer's DiseaseDementiaTyrobp Genetic VariantsNeurochemical Biomarkers +6

In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers

Mariely DeJesus‐Hernandez, NiCole A. Finch, Xue Wang, +22

Acta Neuropathologica

Progranulin protein levels are differently regulated in plasma and CSF

Alexandra M. Nicholson, NiCole A. Finch, Colleen S. Thomas, +8

Neurology

Prosaposin is a regulator of progranulin levels and oligomerization

Alexandra M. Nicholson, NiCole A. Finch, Marcio Almeida, +37

Nature Communications

Loss of TMEM106B leads to myelination deficits: implications for frontotemporal dementia treatment strategies

Xiaolai Zhou, Alexandra M. Nicholson, Yingxue Ren, +19

Brain

C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic.

Aleksandra Wojtas, Kristin Heggeli, NiCole A. Finch, +6

PubMed

Mayo ClinicClinical SymptomsGeneticsPathologyMolecular Genetics +21

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

Dennis W. Dickson, Matthew Baker, Jazmyne L. Jackson, +20

Acta Neuropathologica Communications