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Genome-wide brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease
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Rating scales for rare neurological diseasesWhat are we learning from Friedreich ataxia?
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Clinical/Scientific Notes
Expanding the global prevalence of spinocerebellar ataxia type 42
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Next-generation profiling to identify the molecular etiology of Parkinson dementia
Adrienne Henderson-Smith, Jason J. Corneveaux, Matthew De Both, et al.

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Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants
Karen Nuytemans, Lizmarie Maldonado, Aleena Ali, et al.

January 14, 2016
Clinical/Scientific Notes
Variable reporting of C9orf72 and a high rate of uncertain results in ALS genetic testing
Holly Klepek, Stephen A. Goutman, Adam Quick, et al.

January 07, 2019
Article
Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis
Yi Yang, Lei Zhang, David R. Lynch, et al.

March 03, 2016
Article
ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
Christian G. Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, et al.

March 21, 2018
Clinical/Scientific Notes
Phenotypic convergence of Menkes and Wilson disease
Boglarka Bansagi, David Lewis-Smith, Endre Pal, et al.

November 17, 2016
Article
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
Katrine M. Johannesen, Diana Mitter, Robert Janowski, et al.

December 10, 2019

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