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Journal of Clinical Medicine|October 16, 2025
Description of the Hamburg Alexander Leukodystrophy Cohort-Insights into Practical Classification and the Care SituationNadia Kokaly, Helena Guerreiro, Janna Bredow, et al.
Experimental Dermatology|November 24, 2012
Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variationsAnnika Schäfer, Lars Hofmann, Alexei Gratchev, et al.
Neurology|February 14, 2014
The expanding clinical and genetic spectrum of ATP1A3-related disordersHendrik Rosewich, Andreas Ohlenbusch, Peter Huppke, et al.
Experimental Dermatology|June 27, 2013
Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypesAnnika Schäfer, Alexei Gratchev, Christina Seebode, et al.
The Journal of Investigative Dermatology|February 2, 2013
Characterization of three XPG-defective patients identifies three missense mutations that impair repair and transcriptionAnnika Schäfer, Steffen Schubert, Alexei Gratchev, et al.
Neurobiology of Disease|July 13, 2020
Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severityElinor Lazarov, Merle Hillebrand, Simone Schröder, et al.
Brain Communications|May 12, 2021
A novel remitting leukodystrophy associated with a variant in <i>FBP2</i>Agnieszka Gizak, Susann Diegmann, Steffi Dreha-Kulaczewski, et al.
Nature Genetics|June 16, 2009
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infectionMarco Henneke, Simone Diekmann, Andreas Ohlenbusch, et al.
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