Latest Articles

Subject

Clinical/Scientific Notes
Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities
Andrea Accogli, Michele Iacomino, Francesca Pinto, et al.

August 09, 2017
Article
Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease
Javier Ruiz-Martínez, Luis J. Azcona, Alberto Bergareche, et al.

August 02, 2017
Article
Autopsy case of the C12orf65 mutation in a patient with signs of mitochondrial dysfunction
Hideaki Nishihara, Masatoshi Omoto, Masaki Takao, et al.

July 27, 2017
Article
Brain calcifications and PCDH12 variants
Gaël Nicolas, Monica Sanchez-Contreras, Eliana Marisa Ramos, et al.

July 26, 2017
Clinical/Scientific Notes
Updated nomenclature for human and mouse neurofibromatosis type 1 genes
Corina Anastasaki, Lu Q. Le, Robert A. Kesterson, et al.

July 26, 2017
Article
Clinical and experimental studies of a novel P525R FUS mutation in amyotrophic lateral sclerosis
Lisha Kuang, Marisa Kamelgarn, Alexandra Arenas, et al.

July 20, 2017
Article
Prevalence of spinocerebellar ataxia 36 in a US population
Juliana M. Valera, Tatyana Diaz, Lauren E. Petty, et al.

July 18, 2017
Article
UNC5C variants are associated with cerebral amyloid angiopathy
Hyun-Sik Yang, Charles C. White, Lori B. Chibnik, et al.

July 18, 2017
Article
Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo
Nathan McNeill, Alessia Nasca, Aurelio Reyes, et al.

July 14, 2017
Editorial
This variant alters protein function, but is it pathogenic?
Massimo Pandolfo

July 14, 2017

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