Concepedia

Nina Aula

NA

Statistics

Publications

9

Citations

856

H-Index

9

Active since

1999

Affiliations

University of Helsinki(Current)

Institute for Molecular Medicine Finland

Helsinki University Hospital

University of California, Los Angeles

Folkhälsans Forskningscentrum

Nina Aula is an author at University of Helsinki specializing in life sciences, genetic disorders, and medical genetics.

Publications per year

1999–2007

9

Publications

9

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

Frans W. Verheijen, Elly Verbeek, Nina Aula et al. · Nature Genetics · 1999 · 293 citations

, , +5

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

The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation

Nina Aula, Pirjo Salomäki, Ritva Timonen et al. · The American Journal of Human Genetics · 2000 · 129 citations · Full text

, , +8

Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients

Tarja Joensuu, Mervi Kuronen, Kirsi Alakurtti et al. · European Journal of Human Genetics · 2006 · 76 citations · Full text

, , +17

Sialin expression in the CNS implicates extralysosomal function in neurons

Nina Aula, Outi Kopra, Anu Jalanko et al. · Neurobiology of Disease · 2004 · 41 citations · Full text

, , +10

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