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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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June 2022; 8 (3)

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Research Article

  • Open Access
    Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss
    Tanja Višnjar, Aleš Maver, Karin Writzl, Ornela Maloku, Gaber Bergant, Helena Jaklič, David Neubauer, Federico Fogolari, Nuška Pečarič Meglič, Borut Peterlin
    • Abstract
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  • Open Access
    DNA Methylation of the Natriuretic Peptide System Genes and Ischemic StrokeGene-Based and Gene Set Analyses
    Hao Peng, Yiming Fan, Jing Li, Xiaowei Zheng, Chongke Zhong, Zhengbao Zhu, Yan He, Mingzhi Zhang, Yonghong Zhang
    • Abstract
    • Full Text
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  • Open Access
    Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia
    Baiba Lace, Ieva Micule, Viktorija Kenina, Signe Setlere, Jurgis Strautmanis, Inese Kazaine, Gita Taurina, Daiga Murmane, Ieva Grinfelde, Liene Kornejeva, Zita Krumina, Olga Sterna, Ilze Radovica-Spalvina, Inta Vasiljeva, Linda Gailite, Janis Stavusis, Diana Livcane, Dita Kidere, Ieva Malniece, Inna Inashkina
    • Abstract
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  • Open Access
    Cognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter Denovo
    Kazuki Watanabe, Mitsuko Nakashima, Rie Wakatsuki, Tomoyasu Bunai, Yasuomi Ouchi, Tomohiko Nakamura, Hiroaki Miyajima, Hirotomo Saitsu
    • Abstract
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  • Open Access
    Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia
    Layne N. Rodden, Christian Rummey, Yi Na Dong, David R. Lynch
    • Abstract
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Clinical/Scientific Notes

  • Open Access
    The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations
    Hui-Jun Yang, Gyeongmin Park, Il Seong Nam-Goong, Jun-Woo Ahn, Young Cheol Weon
    • Abstract
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  • Open Access
    Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, Whole HEXB Gene Deletion, and Coexisting MYH7 Pathogenic Variant
    Grayson Beecher, Teerin Liewluck, Margherita Milone
    • Abstract
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  • Open Access
    A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3
    Kazuo Abe, Kumiko Ando, Mitsuhiro Kato, Hirotomo Saitsu, Mitsuko Nakashima, Shintaro Aoki, Takashi Kimura
    • Abstract
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  • Open Access
    Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene
    Tsepo Goerttler, Letizia Zanetti, Maria Regoni, Karl Egger, Elias Kellner, Cornelius Deuschl, Christoph Kleinschnitz, Jenny Sassone, Stephan Klebe
    • Abstract
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Review

  • Open Access
    Progress in Amyotrophic Lateral Sclerosis Gene DiscoveryReflecting on Classic Approaches and Leveraging Emerging Technologies
    Samuel N. Smukowski, Heather Maioli, Caitlin S. Latimer, Thomas D. Bird, Suman Jayadev, Paul N. Valdmanis
    • Abstract
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  • Open Access
    Expanding Clinical Spectrum of C9ORF72-Related Disorders and Promising Therapeutic StrategiesA Review
    Sarah Breevoort, Summer Gibson, Karla Figueroa, Mark Bromberg, Stefan Pulst
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Acknowledgment to Reviewers

  • Open Access
    Neurology® Genetics Acknowledgment to Reviewers
    Stefan Pulst
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Correction

  • Multigene Panel Testing in a Large Cohort of Adults With EpilepsyDiagnostic Yield and Clinically Actionable Genetic Findings
    • Full Text
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Correction & Replacement

  • Migraine, Stroke, and Cervical Arterial DissectionShared Genetics for a Triad of Brain Disorders With Vascular Involvement
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