Latest Articles

Subject

Research Article
Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy
Leslie Hotchkiss Hayes, Morgane Perdomini, Asli Aykanat, et al.

October 25, 2022
Research Article
Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual Disability
Sheng Yi, Fei Chen, Zailong Qin, et al.

October 20, 2022
Research Article
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy
Jan H. Döring, Afshin Saffari, Thomas Bast, et al.

September 28, 2022
Review
Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy
Leslie J. Roberts, Michael McVeigh, Linda Seiderer, et al.

September 28, 2022
Research Article
Effect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery StenosisA 15-Year Follow-up Study
Shuhei Okazaki, Takeshi Yoshimoto, Mariko Ohara, et al.

September 27, 2022
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

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