Latest Articles

Subject

Clinical/Scientific Notes
“Fork and bracket” syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies
Marta Romani, Cybel Mehawej, Tommaso Mazza, et al.

March 03, 2016
Article
Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood
David Lewis-Smith, Kimberli J. Kamer, Helen Griffin, et al.

March 03, 2016
Article
Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt
Magy Abdelwahab, Derek Blankenship, Raphael Schiffmann

February 25, 2016
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
Article
Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy
Mikko Muona, Yuko Fukata, Anna-Kaisa Anttonen, et al.

January 21, 2016

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