Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability

Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia

(2019) Danyan Zhang et al.   CLINICA CHIMICA ACTA

NRG1 variant effects in patients with Hirschsprung disease

(2018) Gunadi et al.   BMC Pediatrics

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Mutation Update ofARSAandPSAPGenes Causing Metachromatic Leukodystrophy

(2015) Martina Cesani et al.   HUMAN MUTATION

Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population

(2010) Pallavi Shukla et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Automated inference of molecular mechanisms of disease from amino acid substitutions

(2009) B. Li et al.   BIOINFORMATICS

An Unusual Homozygous Arylsulfatase: A Pseudodeficiency in a Metachromatic Leukodystrophy Tunisian Patient

(2009) Faten Tinsa et al.   JOURNAL OF CHILD NEUROLOGY

Molecular analysis ofARSAandPSAPgenes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novelARSAalleles

(2008) Serena Grossi et al.   HUMAN MUTATION