Research Article
- Open AccessBiallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing LossTanja Višnjar, Aleš Maver, Karin Writzl, Ornela Maloku, Gaber Bergant, Helena Jaklič, David Neubauer, Federico Fogolari, Nuška Pečarič Meglič, Borut Peterlin
- Open AccessDNA Methylation of the Natriuretic Peptide System Genes and Ischemic StrokeGene-Based and Gene Set AnalysesHao Peng, Yiming Fan, Jing Li, Xiaowei Zheng, Chongke Zhong, Zhengbao Zhu, Yan He, Mingzhi Zhang, Yonghong Zhang
- Open AccessOverview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of LatviaBaiba 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
- Open AccessCognitive Impairment in a Complex Family With AAGGG and ACAGG Repeat Expansions in RFC1 Detected by ExpansionHunter DenovoKazuki Watanabe, Mitsuko Nakashima, Rie Wakatsuki, Tomoyasu Bunai, Yasuomi Ouchi, Tomohiko Nakamura, Hiroaki Miyajima, Hirotomo Saitsu
- Open AccessClinical Evidence for Variegated Silencing in Patients With Friedreich AtaxiaLayne N. Rodden, Christian Rummey, Yi Na Dong, David R. Lynch
Clinical/Scientific Notes
- Open AccessThe First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B MutationsHui-Jun Yang, Gyeongmin Park, Il Seong Nam-Goong, Jun-Woo Ahn, Young Cheol Weon
- Open AccessAdult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, Whole HEXB Gene Deletion, and Coexisting MYH7 Pathogenic VariantGrayson Beecher, Teerin Liewluck, Margherita Milone
- Open AccessA New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3Kazuo Abe, Kumiko Ando, Mitsuhiro Kato, Hirotomo Saitsu, Mitsuko Nakashima, Shintaro Aoki, Takashi Kimura
- Open AccessAdult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP GeneTsepo Goerttler, Letizia Zanetti, Maria Regoni, Karl Egger, Elias Kellner, Cornelius Deuschl, Christoph Kleinschnitz, Jenny Sassone, Stephan Klebe
Review
- Open AccessProgress in Amyotrophic Lateral Sclerosis Gene DiscoveryReflecting on Classic Approaches and Leveraging Emerging TechnologiesSamuel N. Smukowski, Heather Maioli, Caitlin S. Latimer, Thomas D. Bird, Suman Jayadev, Paul N. Valdmanis
- Open AccessExpanding Clinical Spectrum of C9ORF72-Related Disorders and Promising Therapeutic StrategiesA ReviewSarah Breevoort, Summer Gibson, Karla Figueroa, Mark Bromberg, Stefan Pulst
Acknowledgment to Reviewers
Correction
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