Latest Articles

Subject

Clinical/Scientific Notes
Galloping tongue syndrome in a PRRT2 mutation carrier
Dolores Vilas, Anna Marcé-Grau, Alfons Macaya, et al.

November 12, 2019
Article
Identification of TYW3/CRYZ and FGD4 as susceptibility genes for amyotrophic lateral sclerosis
Ling Wei, Yanghua Tian, Yongping Chen, et al.

November 08, 2019
Clinical/Scientific Notes
Myelopathy in a patient with leukodystrophy due to CSF1R mutation
Victoria M. Ho, Dominic A. Hovsepian, Perry B. Shieh

November 08, 2019
Article
GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis
Joseph M. Sliepka, Sarah C. McGriff, Linda Z. Rossetti, et al.

October 30, 2019
Article
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants
Laurence Gauquelin, Ferdy K. Cayami, László Sztriha, et al.

October 30, 2019
Article
CNS manifestations in patients with telomere biology disorders
Sonia Bhala, Ana F. Best, Neelam Giri, et al.

October 29, 2019
Article
Psychometric properties of the Friedreich Ataxia Rating Scale
Christian Rummey, Louise A. Corben, Martin B. Delatycki, et al.

October 29, 2019
Article
Epilepsy with migrating focal seizuresKCNT1 mutation hotspots and phenotype variability
Giulia Barcia, Nicole Chemaly, Mathieu Kuchenbuch, et al.

October 25, 2019
Editorial
Headaches and polygenic scores
Bjarni J. Vilhjálmsson, Florian Privé

October 24, 2019
Article
Migraine polygenic risk score associates with efficacy of migraine-specific drugs
Lisette J.A. Kogelman, Ann-Louise Esserlind, Anne Francke Christensen, et al.

October 24, 2019

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