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1.
Blickhaeuser, B. et al.: Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant. Brain 147, 1967-1974 (2024)
2.
Souza Oliveira, D.* et al.: A direct spinal cord-computer interface enables the control of the paralysed hand in spinal cord injury. Brain, DOI: 10.1093/brain/awae088 (2024)
3.
Joza, S.* et al.: Progression of clinical markers in prodromal Parkinson's disease and dementia with Lewy bodies: a multicentre study. Brain 146, 3258-3272 (2023)
4.
Nasca, A.* et al.: Variants in ATP5F1B are associated with dominantly inherited dystonia. Brain 146, 2730-2738 (2023)
5.
AlAbdi, L.* et al.: Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects. Brain 146, 1373-1387 (2022)
6.
Ban, R. et al.: The phenotypic spectrum of COX20-associated mitochondrial disorder. Brain 145, e125-e127 (2022)
7.
Erdmann, H.* et al.: Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy. Brain 146, 1388-1402 (2022)
8.
Spitzer, H. et al.: Interpretable surface-based detection of focal cortical dysplasias: A Multi-centre Epilepsy Lesion Detection study. Brain 145, 3859-3871 (2022)
9.
Stenton, S. et al.: DNAJC30 defect: A frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome. Brain 145, 1624-1631 (2022)
10.
Sundaram, S.M.* et al.: Gene therapy targeting the blood-brain barrier improves neurological symptoms in a model of genetic MCT8 deficiency. Brain 145, 4264-4274 (2022)
11.
Giesert, F.: c-Abl phosphorylation primes PARIS for neurodegeneration. Brain 144, 3555-3557 (2021)
12.
Invernizzi, F.* et al.: Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3. Brain 144:e74 (2021)
13.
Kaiyrzhanov, R.* et al.: Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum. Brain 144, e30 (2021)
14.
Macrini, C.* et al.: Features of MOG required for recognition by patients with MOG antibody-associated disorders. Brain 144, 2375-2389 (2021)
15.
Mirza-Schreiber, N. et al.: Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. Brain, DOI: 10.1093/brain/awab360 (2021)
16.
Monfrini, E.* et al.: HOPS-associated neurological disorders (HOPSANDs): Linking endolysosomal dysfunction to the pathogenesis of dystonia. Brain 144, 2610-2615 (2021)
17.
Neuray, C.* et al.: Early-onset phenotype of bi-allelic GRN mutations. Brain 144:e22 (2021)
18.
Riedhammer, K.M.* et al.: De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy. Brain 144, 411-419 (2021)
19.
Zech, M. et al.: MATR3 haploinsufficiency and early-onset neurodegeneration. Brain 144:e72 (2021)
20.
Mak, C.C.Y.* et al.: MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain 143, 55-68 (2020)
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