Atypical presentation of infantile-onset farber disease with novelASAH1mutations

Breast Cancer Tumor Suppressors: A Special Emphasis on Novel Protein Nischarin

(2015) M. Maziveyi et al.   CANCER RESEARCH

Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations

(2015) Jieun Seo et al.   JOURNAL OF HUMAN GENETICS

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

(2014) Carlos E. Prada et al.   European Journal of Medical Genetics

Molecular analyses of novelASAH1mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation

(2013) M.D. Bashyam et al.   CLINICAL GENETICS

A novel mutation in an atypical presentation of the rare infantile Farber disease

(2011) Fatma Al Jasmi   BRAIN & DEVELOPMENT

Novel V97G ASAH1 mutation found in Farber disease patients: Unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system

(2011) Aziza K. Chedrawi et al.   BRAIN & DEVELOPMENT

Farber lipogranulomatosis type 1 – Late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation

(2010) L. Cvitanovic-Sojat et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH