Acknowledgment to Reviewers
Research Article
- Open AccessEpilepsy Course and Developmental Trajectories in STXBP1-DEEGanna Balagura, Julie Xian, Antonella Riva, Francesca Marchese, Bruria Ben Zeev, Loreto Rios, Deepa Sirsi, Patrizia Accorsi, Elisabetta Amadori, Guja Astrea, Simona Baldassari, Francesca Beccaria, Antonella Boni, Mauro Budetta, Gaetano Cantalupo, Giuseppe Capovilla, Elisabetta Cesaroni, Valentina Chiesa, Antonietta Coppola, Robertino Dilena, Raffaella Faggioli, Annarita Ferrari, Elena Fiorini, Francesca Madia, Elena Gennaro, Thea Giacomini, Lucio Giordano, Michele Iacomino, Simona Lattanzi, Carla Marini, Maria Margherita Mancardi, Massimo Mastrangelo, Tullio Messana, Carlo Minetti, Lino Nobili, Amanda Papa, Antonia Parmeggiani, Tiziana Pisano, Angelo Russo, Vincenzo Salpietro, Salvatore Savasta, Marcello Scala, Andrea Accogli, Barbara Scelsa, Paolo Scudieri, Alberto Spalice, Nicola Specchio, Marina Trivisano, Michal Tzadok, Massimiliano Valeriani, Maria Stella Vari, Alberto Verrotti, Federico Vigevano, Aglaia Vignoli, Ruud Toonen, Federico Zara, Ingo Helbig, Pasquale Striano
- 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 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
- 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
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
Clinical/Scientific Notes
- Open AccessVanishing White Matter Disease Presenting as Dementia and InfertilityA Case ReportJasmine Parihar, Deepti Vibha, Roopa Rajan, Awadh Kishor Pandit, Achal Kumar Srivastava, Kameshwar Prasad
- 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 AccessOn Spinocerebellar Ataxia 21 as a Mimicker of Cerebral PalsyJohanna van der Put, Dalia Daugeliene, Åsa Bergendal, Malin Kvarnung, Per Svenningsson, Martin Paucar
- 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
Correction
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