Concepedia

Eija Siintola

ES

Statistics

Publications

8

Citations

997

H-Index

8

Active since

2004

Affiliations

University of Helsinki(Current)

Institute of Genetics

Hacettepe University

Hospital for Sick Children

Folkhälsans Forskningscentrum

Eija Siintola is an author at University of Helsinki specializing in life sciences, genetics, and genetic disorders.

Publications per year

2004–2017

8

Publications

8

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

Eija Siintola · Brain · 2006 · 392 citations · Full text

, , +16

The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter

Eija Siintola, Meral Topçu, Nina Aula et al. · The American Journal of Human Genetics · 2007 · 230 citations · Full text

, , +12

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Maria Kousi, Eija Siintola, Lenka Dvořáková et al. · Brain · 2009 · 144 citations · Full text

, , +11

Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10)

Karen Fritchie, Eija Siintola, Diane Armao et al. · Acta Neuropathologica · 2008 · 78 citations

, , +13

Localization of wild‐type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non‐neuronal and neuronal cells

Liina Lonka, Tarja Salonen, Eija Siintola et al. · Journal of Neuroscience Research · 2004 · 47 citations

, , +17

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