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1.
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.
Genet Med
; 25(2): 100332, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36520152
2.
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Am J Hum Genet
; 101(5): 856-865, 2017 Nov 02.
Article
in English
| MEDLINE | ID: mdl-29100095
3.
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
Am J Hum Genet
; 99(3): 735-743, 2016 09 01.
Article
in English
| MEDLINE | ID: mdl-27545679
4.
Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype.
Eur J Paediatr Neurol
; 37: 1-7, 2022 Mar.
Article
in English
| MEDLINE | ID: mdl-34999443
5.
Genetic background of ataxia in children younger than 5 years in Finland.
Neurol Genet
; 6(4): e444, 2020 Aug.
Article
in English
| MEDLINE | ID: mdl-32637629
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