A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

The Spectrum of Mutations in Progranulin

(2010) Chang-En Yu et al.   ARCHIVES OF NEUROLOGY

Neuronal loss in Pelizaeus–Merzbacher disease differs in various mutations of the proteolipid protein 1

(2009) Anders A. F. Sima et al.   ACTA NEUROPATHOLOGICA

Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease

(2009) Ingrid Roxrud et al.   EXPERIMENTAL CELL RESEARCH

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

(2008) Gregor D. Gilfillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

White Matter Tauopathy With Globular Glial Inclusions: A Distinct Sporadic Frontotemporal Lobar Degeneration

(2008) Gabor G. Kovacs et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Novel progranulin mutation: Screening for PGRN mutations in a Portuguese series of FTD/CBS cases

(2008) Rita Joao Guerreiro et al.   MOVEMENT DISORDERS

Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide

(2008) Luisa Benussi et al.   NEUROBIOLOGY OF DISEASE