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1.
Cavestro, C.* et al.: Emerging variants, unique phenotypes, and transcriptomic signatures: An integrated study of COASY-associated diseases. Ann. Clin. Transl. Neurol. 11, 1615-1629 (2024)
2.
Parvizi, T.* et al.: Clinical heterogeneity within the ALS-FTD spectrum in a family with a homozygous optineurin mutation. Ann. Clin. Transl. Neurol. 11, 1579-1589 (2024)
3.
Škorvánek, M.* ; Jech, R.* ; Winkelmann, J. & Zech, M.: Progressive choreodystonia in X-linked hyper-IgM immunodeficiency: A rare but recurrent presentation. Ann. Clin. Transl. Neurol. 9, 577-581 (2022)
4.
Brugger, M.* et al.: A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy. Ann. Clin. Transl. Neurol. 8, 278-283 (2021)
5.
Doummar, D.* et al.: Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8. Ann. Clin. Transl. Neurol., DOI: 10.1002/acn3.51444 (2021)
6.
Dzinovic, I. et al.: Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome. Ann. Clin. Transl. Neurol. 8, 951-955 (2021)
7.
Brunet, T. et al.: Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder. Ann. Clin. Transl. Neurol. 7, 390-396 (2020)
8.
Werning, M.* et al.: PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes. Ann. Clin. Transl. Neurol. 7, 1340-1351 (2020)
9.
Krenn, M.* et al.: Biallelic mutations in PIGP cause developmental and epileptic encephalopathy. Ann. Clin. Transl. Neurol. 6, 968-973 (2019)
10.
Krenn, M.* et al.: Phenotypic variability of GABRA1-related epilepsy in monozygotic twins. Ann. Clin. Transl. Neurol. 6, 2317-2322 (2019)
11.
Park, J.* et al.: KCNC1-related disorders: New de novo variants expand the phenotypic spectrum. Ann. Clin. Transl. Neurol. 6, 1319-1326 (2019)
12.
Haack, T.B. et al.: Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Ann. Clin. Transl. Neurol. 2, 492-509 (2015)
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