Research Article

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  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

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  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

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  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

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  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

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  Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia

  Layne N. Rodden, Christian Rummey, Yi Na Dong, David R. Lynch

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