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1.
Kaymak, A.* et al.: Spiking patterns in the globus pallidus highlight convergent neural dynamics across diverse genetic dystonia syndromes. Ann. Neurol., DOI: 10.1002/ana.27185 (2025)
2.
Sorrentino, U.* ; O'Neill, A.G.* ; Kollman, J.M.* ; Jinnah, H.A.* & Zech, M.: Purine metabolism and dystonia: Perspectives of a long-promised relationship. Ann. Neurol. 97, 809-825 (2025)
3.
Blackburn, P.R.* et al.: Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder. Ann. Neurol., DOI: 10.1002/ana.27077 (2024)
4.
Harrer, P. et al.: Recessive NUP54 variants underlie early-onset dystonia with striatal lesions. Ann. Neurol. 93, 330-335 (2023)
5.
Stenton, S. et al.: Leigh syndrome: A study of 209 patients at the Beijing Children's Hospital. Ann. Neurol. 91, 466-482 (2022)
6.
Zech, M. et al.: Variants in mitochondrial ATP synthase cause variable neurologic phenotypes. Ann. Neurol. 91, 225-237 (2022)
7.
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)
8.
Schänzer, A.* et al.: Mutations in HID1 cause syndromic infantile encephalopathy and hypopituitarism. Ann. Neurol. 90, 143-158 (2021)
9.
Stenton, S. ; Zou, Y.* ; Cheng, H.* ; Prokisch, H. & Fang, F.*: Pediatric leigh syndrome: Neuroimaging features and genetic correlations. Ann. Neurol. 88, 218-232 (2021)
10.
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)
11.
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)
12.
Tiedt, S.* et al.: Circulating metabolites differentiate acute ischemic stroke from stroke mimics. Ann. Neurol. 88, 736-746 (2020)
13.
Tilch, E. et al.: Identification of restless legs syndrome genes by mutational load analysis. Ann. Neurol. 87, 184-193 (2020)
14.
Gauthier, J.* et al.: Recessive mutations in > VPS13D cause childhood onset movement disorders. Ann. Neurol. 83, 1089-1095 (2018)
15.
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)
16.
Spadaro, M.* et al.: Pathogenicity of human antibodies against myelin oligodendrocyte glycoprotein. Ann. Neurol. 84, 315-328 (2018)
17.
Maas, R.R.* et al.: Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Ann. Neurol. 82, 1004-1015 (2017)
18.
Escott-Price, V.* et al.: Polygenic risk of Parkinson disease is correlated with disease age at onset. Ann. Neurol. 77, 582-591 (2015)
19.
Schirmer, L.* et al.: Differential loss of KIR4.1 immunoreactivity in multiple sclerosis lesions. Ann. Neurol. 75, 810-828 (2014)
20.
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)
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