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1.
Indelicato, E.* et al.: New-onset refractory status epilepticus due to a novel MT-TF variant: Time for acute genetic testing before treatment? Neurol. Genet. 9:e200063 (2023)
2.
Neuhofer, C.M.* et al.: LINS1-associated neurodevelopmental disorder family with novel mutation expands the phenotypic spectrum. Neurol. Genet. 6:e500 (2020)
3.
Radelfahr, F.* et al.: Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis. Neurol. Genet. 6:e525 (2020)
4.
Stendel, C.* et al.: Delineating MT-ATP6-associated disease. Neurol. Genet. 6:e393 (2020)
5.
Johannesen, K.* et al.: Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy. Neurol. Genet. 5:e373 (2019)
6.
Krenn, M.* et al.: Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing. Neurol. Genet. 5:e346 (2019)
7.
Pulit, S.L.* et al.: Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes. Neurol. Genet. 4:e293 (2018)
8.
Reinthaler, E.M.* et al.: TPP2 mutation associated with sterile brain inflammation mimicking MS. Neurol. Genet. 4:e285 (2018)
9.
Lesage, S.* et al.: Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurol. Genet. 1:e9 (2015)
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