Latest Articles

Subject

Views and Reviews
HSAN-VIA spectrum disorder based on dystonin isoform expression
Anisha Lynch-Godrei, Rashmi Kothary

January 02, 2020
Article
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations
Annalisa Vetro, Tiziana Pisano, Silvia Chiaro, et al.

January 02, 2020
Clinical/Scientific Notes
A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy
Ezgi Saylam, Steven A. Moore, Akilandeswari Aravindhan, et al.

December 26, 2019
Clinical/Scientific Notes
Hemorrhagic cerebral small vessel disease caused by a novel mutation in 3′ UTR of collagen type IV alpha 1
Naoko Sakai, Masahiro Uemura, Taisuke Kato, et al.

December 26, 2019
Article
Cerebral small vessel disease due to a unique heterozygous HTRA1 mutation in an African man
Olusegun John Oluwole, Heba Ibrahim, Debora Garozzo, et al.

December 26, 2019
Clinical/Scientific Notes
Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation
Victoria Tüngler, Marion Doebler-Neumann, Michaela Salandin, et al.

December 19, 2019
Article
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
Katrine M. Johannesen, Diana Mitter, Robert Janowski, et al.

December 10, 2019
Article
Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders
E. Robert Wassman, Karen S. Ho, Diana Bertrand, et al.

December 06, 2019
Editorial
Rating scales for rare neurological diseasesWhat are we learning from Friedreich ataxia?
Massimo Pandolfo

November 25, 2019
Clinical/Scientific Notes
Further supporting evidence for REEP1 phenotypic and allelic heterogeneity
Reza Maroofian, Mahdiyeh Behnam, Rauan Kaiyrzhanov, et al.

November 15, 2019

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