Anni Laari

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

Mikko Muona, Ryosuke Ishimura, Anni Laari et al. · The American Journal of Human Genetics · 2016 · 112 citations · Full text

Biallelic Variants, Genetics, Neuroscience +3

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

Anna-Kaisa Anttonen, Taru Hilander, Tarja Linnankivi et al. · Neurology · 2015 · 60 citations · Full text

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

Mikko Muona, Yuko Fukata, Anna‐Kaisa Anttonen et al. · Neurology Genetics · 2016 · 36 citations · Full text

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss

Anna‐Kaisa Anttonen, Anni Laari, Maria Kousi et al. · Brain · 2017 · 30 citations · Full text

Pediatric Hydrocephalus, Neurological Disorder, Genetics +21

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome

Viivi Nevanlinna, Svetlana Konovalova, Berten Ceulemans et al. · European Journal of Medical Genetics · 2019 · 14 citations · Full text

Mendelian Disorder, Novel Rars2 Mutations, Genetic Disorder +8