Latest Articles

Subject

Article
Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1
Hidehiko Okuma, Fumiaki Saito, Jun Mitsui, et al.

February 01, 2016
Clinical/Scientific Notes
White matter lesions in FTLD: distinct phenotypes characterize GRN and C9ORF72 mutations
Fatima Ameur, Olivier Colliot, Paola Caroppo, et al.

January 28, 2016
Clinical/Scientific Notes
Expanding the ataxia with oculomotor apraxia type 4 phenotype
Martin Paucar, Helena Malmgren, Malcolm Taylor, et al.

January 21, 2016
Article
Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy
Mikko Muona, Yuko Fukata, Anna-Kaisa Anttonen, et al.

January 21, 2016
Clinical/Scientific Notes
Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome
Lance H. Rodan, Maria Zak, James Stavropoulos, et al.

January 14, 2016
Article
Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants
Karen Nuytemans, Lizmarie Maldonado, Aleena Ali, et al.

January 14, 2016
Article
Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease
Martin A. Kohli, Holly N. Cukier, Kara L. Hamilton-Nelson, et al.

January 14, 2016
Article
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery
Karen L. Oliver, Vesna Lukic, Saskia Freytag, et al.

January 14, 2016
Article
Atypical parkinsonism caused by Pro105Leu mutation of prion proteinA broad clinical spectrum
Kagari Koshi Mano, Takashi Matsukawa, Jun Mitsui, et al.

January 07, 2016
Clinical/Scientific Notes
Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene
Jeroen de Filette, Danielle Hasaerts, Sara Seneca, et al.

January 07, 2016

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