Concepedia

Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V

Rainer Ehling, Lenka Nosková, Viktor Stránecký, Hana Hartmannová, Anna Přistoupilová, Kateřina Hodaňová, Thomas Benke, Gábor G. Kovács, Thomas Ströbel, Ulrike Niedermüller,

Journal of the Neurological Sciences · 2013 · 20 citations · 21 references

DOI

Concepts

References

21

The Sequence Alignment/Map format and SAMtools

Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text

, , +17

Merlin—rapid analysis of dense genetic maps using sparse gene flow trees

Gonçalo R. Abecasis, Stacey S. Cherny, William Cookson et al. · Nature Genetics · 2001 · 3.4K citations

, , +15

The cerebellar cognitive affective syndrome

Jeremy D. Schmahmann · Brain · 1998 · 3.2K citations · Full text

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Secreted amyloid β–protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

Donalyn Scheuner, Christopher B. Eckman, M. Jensen et al. · Nature Medicine · 1996 · 2.6K citations

, , +16

Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice

Martin Citron, David Westaway, Weiming Xia et al. · Nature Medicine · 1997 · 1.3K citations

, , +17