Latest Articles

Subject

Clinical/Scientific Note
Filamin A Variant as a Possible Second-Hit Gene Promoting Moyamoya Disease–like Vascular Formation Associated With RNF213 p.R4810K Variant
Yasuhito Ikeuchi, Jiro Kitayama, Noriyuki Sahara, et al.

September 09, 2022
Research Article
High Hereditary Transthyretin-Related Amyloidosis Prevalence in CreteGenetic Heterogeneity and Distinct Phenotypes
Minas Tzagournissakis, Emmanouil Foukarakis, Dimitrios Samonakis, et al.

September 09, 2022
NeuroImage
3-Methylglutaconic Aciduria Type IA Rare Cause of Late-Onset Leukoencephalopathy
Chiara Benzoni, Stefania Magri, Marco Moscatelli, et al.

September 07, 2022
RESEARCH ARTICLE
Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary NeuropathyGenotype and Phenotype Overview
Signe Setlere, Marija Jurcenko, Linda Gailite, et al.

September 06, 2022
Research Article
Genetic Evidence for Protective Effects of Angiotensin-Converting Enzyme Against Alzheimer Disease But Not Other Neurodegenerative Diseases in European Populations
David K. Ryan, Ville Karhunen, Bowen Su, et al.

August 29, 2022
REVIEW
RFC1-Related DiseaseMolecular and Clinical Insights
Kayli Davies, David J. Szmulewicz, Louise A. Corben, et al.

August 29, 2022
Clinical/Scientific Note
Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating Leukodystrophy
Roberta Solazzi, Marco Moscatelli, Davide Rossi Sebastiano, et al.

August 29, 2022
Research Article
Frequency and Phenotype Associations of Rare Variants in 5 Monogenic Cerebral Small Vessel Disease Genes in 200,000 UK Biobank Participants
Amy Christina Ferguson, Sophie Thrippleton, David Henshall, et al.

August 24, 2022
Correction
Expanding Clinical Spectrum of C9ORF72-Related Disorders and Promising Therapeutic StrategiesA Review
August 24, 2022
Research Article
A Fast and Robust Strategy to Remove Variant-Level Artifacts in Alzheimer Disease Sequencing Project Data
Michael E. Belloy, Yann Le Guen, Sarah J. Eger, et al.

August 11, 2022

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