Erika Ignatius

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Tobias B. Haack, Erika Ignatius, Javier Calvo‐Garrido et al. · The American Journal of Human Genetics · 2016 · 117 citations · Full text

Neurodegenerative Diseases, Neurological Disorder, Autophagy +8

Mutations in GPAA1 , Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

Thi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan et al. · The American Journal of Human Genetics · 2017 · 64 citations · Full text

Cerebellar Atrophy, Mendelian Disorder, Genetic Disorder +8

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

Ella F. Whittle, Madison Chilian, Ehsan Ghayoor Karimiani et al. · Genetics in Medicine · 2022 · 27 citations · Full text

Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype

Erika Ignatius, Riina Puosi, Maarit Palomäki et al. · European Journal of Paediatric Neurology · 2021 · 13 citations · Full text

Neurodevelopmental Disorders, Developmental Anomaly, Developmental Biology +12

Genetic background of ataxia in children younger than 5 years in Finland

Erika Ignatius, Pirjo Isohanni, Max Pohjanpelto et al. · Neurology Genetics · 2020 · 10 citations · Full text