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Clinical Genetics|October 5, 2024
Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar PathologiesAntonia M Stehr, Jerica Lenberg, Jennifer Friedman, et al.
Annals of Neurology|December 26, 2021
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic PhenotypesMichael Zech, Robert Kopajtich, Katja Steinbrücker, et al.
Clinical Epigenetics|October 21, 2021
Impact of BMI and waist circumference on epigenome-wide DNA methylation and identification of epigenetic biomarkers in blood: an EWAS in multi-ethnic Asian individualsYuqing Chen, Irfahan Kassam, Suk Hiang Lau, et al.
American Journal of Medical Genetics. Part A|April 14, 2026
CACNA1C-Related Channelopathy Presenting With Adult-Onset Combined Dystonia-Parkinsonism: A Novel Neurological PresentationDonatella Ottaviani, Ruggero Bacchin, Arlend Pjeçi, et al.
Sleep|September 9, 2014
HLA DQB1*06:02 negative narcolepsy with hypocretin/orexin deficiencyFang Han, Ling Lin, Barbara Schormair, et al.
Neurology. Genetics|May 9, 2025
Holistic Exome-Based Genetic Testing in Adults With EpilepsyMartin Krenn, Matias Wagner, Karin Trimmel, et al.
Human Molecular Genetics|February 14, 2012
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsyJuliane Winkelmann, Ling Lin, Barbara Schormair, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 5, 2021
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation StudyMichael Zech, Robert Jech, Sylvia Boesch, et al.
Heliyon|April 25, 2023
Copy number analysis from whole-exome sequencing data revealed a novel homozygous deletion in PARK7 leads to severe early-onset Parkinson's diseaseMohammad Reza Seyedtaghia, Mohammad Soudyab, Mohammad Shariati, et al.
Sleep Medicine|April 9, 2014
Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1Keivan Kaveh Moghadam, Fabio Pizza, Caterina Tonon, et al.
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