Erika Ignatius

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

L. Haataja, K. Avela, M. Palomäki, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

P. Lahermo, A. Suomalainen, P. Isohanni, 2020, Neurology: Genetics.

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

R. Ganetzky, R. Maroofian, H. Houlden, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

P. Svenningsson, T. Meitinger, T. Strom, 2016, American journal of human genetics.

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

Colin A. Johnson, J. Rosenfeld, A. Bateman, 2017, American journal of human genetics.

Absence of the Autophagy Adaptor SQSTM 1 / p 62 Causes Childhood-Onset Neurodegeneration with Ataxia , Dystonia , and Gaze Palsy Haack

P. Svenningsson, T. Meitinger, T. Strom, 2022 .