Latest Articles

Subject

Article
Stabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II
Leila Motlagh, Ralph Golbik, Wolfgang Sippl, et al.

February 25, 2016
Clinical/Scientific Notes
Exonic deletion of SLC9A9 in autism with epilepsy
Meeta Cardon, Karen D. Evankovich, J. Lloyd Holder

February 25, 2016
The Helix
Genetics of neurodegenerative diseases
Stefan M. Pulst

February 18, 2016
Article
X-inactivation in the clinical phenotype of fragile X premutation carrier sisters
Deborah A. Hall, Erin E. Robertson-Dick, Joan A. O'Keefe, et al.

February 03, 2016
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

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