Publications by authors named "R Herva"

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NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.
Johanna Uusimaa, Riitta Kaarteenaho, Teija Paakkola, Hannu Tuominen, Minna K Karjalainen, Riitta Herva

Acta Neuropathol· May 2018

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Germline MSH6 Mutation in a Patient With Two Independent Primary Glioblastomas.
Linda M Forsström, Koichiro Sumi, Markus J Mäkinen, Ji Eun Oh, Riitta Herva

J Neuropathol Exp Neurol· October 2017

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Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
Mikko Muona, Ryosuke Ishimura, Anni Laari, Yoshinobu Ichimura, Tarja Linnankivi, Riitta Herva

Am J Hum Genet· September 2016

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[Lobotomy].
Riitta Herva

Duodecim· September 2013

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Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.
Anne Polvi, Tarja Linnankivi, Tero Kivelä, Riitta Herva, James P Keating

Am J Hum Genet· March 2012

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