Latest Articles
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- Research ArticleLong-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 VariantKento Matoba, Norio Chihara, Wataru Satake, et al.September 26, 2022
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- Clinical/Scientific NoteFilamin A Variant as a Possible Second-Hit Gene Promoting Moyamoya Disease–like Vascular Formation Associated With RNF213 p.R4810K VariantYasuhito Ikeuchi, Jiro Kitayama, Noriyuki Sahara, et al.September 09, 2022
- Research ArticleHigh Hereditary Transthyretin-Related Amyloidosis Prevalence in CreteGenetic Heterogeneity and Distinct PhenotypesMinas Tzagournissakis, Emmanouil Foukarakis, Dimitrios Samonakis, et al.September 09, 2022
- NeuroImage3-Methylglutaconic Aciduria Type IA Rare Cause of Late-Onset LeukoencephalopathyChiara Benzoni, Stefania Magri, Marco Moscatelli, et al.September 07, 2022
- RESEARCH ARTICLEAlanyl-tRNA Synthetase 1 Gene Variants in Hereditary NeuropathyGenotype and Phenotype OverviewSigne Setlere, Marija Jurcenko, Linda Gailite, et al.September 06, 2022
- Clinical/Scientific NoteSevere Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating LeukodystrophyRoberta Solazzi, Marco Moscatelli, Davide Rossi Sebastiano, et al.August 29, 2022
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Dr. Babak Hooshmand and Dr. David Smith