Latest Articles

Subject

Clinical/Scientific Note
Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated SyndromeA Case Report
Patra Yeetong, Natthaporn Tanpowpong, Supphakorn Rakwongkhachon, et al.

November 29, 2022
Research Article
Somatic Variants in SVIL in Cerebral Aneurysms
Pui Man Rosalind Lai, Jee-Yeon Ryu, Sang-Cheol Park, et al.

November 28, 2022
Clinical/Scientific Note
Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy
Avaneesh R. Kunta, Jeremy Jueng, Catherine Jordan, et al.

November 23, 2022
Research Article
Startle DiseaseAn Overlooked Symptom of CTNNB1-Related Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects
Vincent Bulot, Francis Ramond, François Mauguière, et al.

November 21, 2022
Research Article
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain
Raquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Juan Francisco Vázquez-Costa, et al.

November 14, 2022
NeuroImage
Complete Agenesis of Corpus Callosum in KCNQ2-Related Neonatal Epileptic Encephalopathy
Laura Licchetta, Raffaella Minardi, Lorenzo Muccioli, et al.

November 07, 2022
Research Article
Efficacy and Safety of Leriglitazone in Patients With Friedreich AtaxiaA Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES)
Massimo Pandolfo, Kathrin Reetz, Alejandra Darling, et al.

November 01, 2022
Clinical/Scientific Note
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome
Katherine Abell King, Daniel J. Wegner, Robert C. Bucelli, et al.

November 01, 2022
Research Article
Increased Serum Levels of miR-125b and miR-132 in Fragile X SyndromeA Preliminary Study
Rowena Rubim Couto, Francyne Kubaski, Marina Siebert, et al.

October 26, 2022
Research Article
Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis
Andrea Calvo, Antonio Canosa, Cristina Moglia, et al.

October 26, 2022

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