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1.
Blackburn, P.R.* et al.: Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder. Ann. Neurol., DOI: 10.1002/ana.27077 (2024)
2.
Harrer, P. et al.: Recessive NUP54 variants underlie early-onset dystonia with striatal lesions. Ann. Neurol. 93, 330-335 (2023)
3.
Stenton, S. et al.: Leigh syndrome: A study of 209 patients at the Beijing Children's Hospital. Ann. Neurol. 91, 466-482 (2022)
4.
Zech, M. et al.: Variants in mitochondrial ATP synthase cause variable neurologic phenotypes. Ann. Neurol. 91, 225-237 (2022)
5.
Musacchio, T.* ; Zech, M. ; Reich, M.M.* ; Winkelmann, J. & Volkmann, J.*: A recurrent EIF2AK2 missense variant causes autosomal-dominant isolated dystonia. Ann. Neurol. 89, 1257-1258 (2021)
6.
Schänzer, A.* et al.: Mutations in HID1 cause syndromic infantile encephalopathy and hypopituitarism. Ann. Neurol. 90, 143-158 (2021)
7.
Stenton, S. ; Zou, Y.* ; Cheng, H.* ; Prokisch, H. & Fang, F.*: Pediatric leigh syndrome: Neuroimaging features and genetic correlations. Ann. Neurol. 88, 218-232 (2021)
8.
Zech, M. ; Steel, D.* ; Kurian, M.A.* & Winkelmann, J.: Reply to "Truncating VPS16 mutations are rare in early-onset dystonia". Ann. Neurol. 89:626 (2021)
9.
Steel, D.* et al.: Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early onset dystonia associated with lysosomal abnormalities. Ann. Neurol. 88, 867-877 (2020)
10.
Tiedt, S.* et al.: Circulating metabolites differentiate acute ischemic stroke from stroke mimics. Ann. Neurol. 88, 736-746 (2020)
11.
Tilch, E. et al.: Identification of restless legs syndrome genes by mutational load analysis. Ann. Neurol. 87, 184-193 (2020)
12.
Gauthier, J.* et al.: Recessive mutations in > VPS13D cause childhood onset movement disorders. Ann. Neurol. 83, 1089-1095 (2018)
13.
Jende, J.M.E.* et al.: Diabetic neuropathy differs between type 1 and type 2 diabetes: Insights from magnetic resonance neurography. Ann. Neurol. 83, 588-598 (2018)
14.
Spadaro, M.* et al.: Pathogenicity of human antibodies against myelin oligodendrocyte glycoprotein. Ann. Neurol. 84, 315-328 (2018)
15.
Maas, R.R.* et al.: Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Ann. Neurol. 82, 1004-1015 (2017)
16.
Escott-Price, V.* et al.: Polygenic risk of Parkinson disease is correlated with disease age at onset. Ann. Neurol. 77, 582-591 (2015)
17.
Schirmer, L.* et al.: Differential loss of KIR4.1 immunoreactivity in multiple sclerosis lesions. Ann. Neurol. 75, 810-828 (2014)
18.
Buck, D.* et al.: Genetic variants in the immunoglobulin heavy chain locus are associated with the IgG index in multiple sclerosis. Ann. Neurol. 73, 86-94 (2013)
19.
Flinn, L.J.* et al.: TigarB causes mitochondrial dysfunction and neuronal loss in PINK1 deficiency. Ann. Neurol. 74, 837-847 (2013)
20.
Elstner, M. et al.: Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene. Ann. Neurol. 66, 792-798 (2009)
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