Latest Articles

Subject

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
Article
Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism
Stéphane Roche, Camille Dion, Natacha Broucqsault, et al.

November 14, 2019
Article
Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS
Maria-Del-Mar Amador, François Muratet, Elisa Teyssou, et al.

November 13, 2019
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

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