Latest Articles

Subject

Research Article
Genetic Testing for Malformations of Cortical DevelopmentA Clinical Diagnostic Study
Barbora Straka, Barbora Hermanovska, Lenka Krskova, et al.

September 27, 2022
Clinical/Scientific Note
Biallelic COX10 Mutations and PMP22 Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy
Yasuko Kuroha, Takanobu Ishiguro, Mari Tada, et al.

September 27, 2022
Correction
Epilepsy Course and Developmental Trajectories in STXBP1-DEE
September 26, 2022
Research Article
Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
Kento Matoba, Norio Chihara, Wataru Satake, et al.

September 26, 2022
Research Article
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis
Maurizio Grassano, Giorgia Brodini, Giovanni De Marco, et al.

September 12, 2022
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
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

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