Developmental disorders

Latest Articles

Article
Severe childhood speech disorderGene discovery highlights transcriptional dysregulation
Michael S. Hildebrand, Victoria E. Jackson, Thomas S. Scerri, et al.

Neurology April 28, 2020
Article
Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy
Stefanie Perrier, Laurence Gauquelin, Catherine Fallet-Bianco, et al.

Neurology Genetics May 11, 2020
Clinical/Scientific Notes
Expanding the phenotype of MTOR-related disorders and the Smith-Kingsmore syndrome
Anasofia Elizondo-Plazas, Marisol Ibarra-Ramírez, Azalea Garza-Báez, et al.

Neurology Genetics May 07, 2020
Clinical/Scientific Notes
Biallelic LINE insertion mutation in HACD1 causing congenital myopathy
Fatema Al Amrani, Carolina Gorodetsky, Lili-Naz Hazrati, et al.

Neurology Genetics April 13, 2020