Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype

[1]  Jing Hu,et al.  SIFT web server: predicting effects of amino acid substitutions on proteins , 2012, Nucleic Acids Res..

[2]  A. Clark,et al.  Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants , 2012, Science.

[3]  V. Meininger,et al.  Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis , 2012, Neurobiology of Aging.

[4]  T. Siddique,et al.  UBQLN2/P62 cellular recycling pathways in amyotrophic lateral sclerosis and frontotemporal dementia , 2012, Muscle & nerve.

[5]  G. Rouleau,et al.  Motor neuron disease: A role for ubiquilin 2 mutations in neurodegeneration , 2011, Nature Reviews Neurology.

[6]  Nick C Fox,et al.  Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. , 2011, Brain : a journal of neurology.

[7]  J. Haines,et al.  Mutations in UBQLN2 cause dominant X-linked juvenile and adult onset ALS and ALS/dementia , 2011, Nature.

[8]  Marc N. Offman,et al.  A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. , 2011, American journal of human genetics.

[9]  Jana Marie Schwarz,et al.  MutationTaster evaluates disease-causing potential of sequence alterations , 2010, Nature Methods.

[10]  Shunsuke Kato,et al.  Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods , 2006, Nucleic acids research.

[11]  Jeannie T. Lee,et al.  X-chromosome inactivation: a hypothesis linking ontogeny and phylogeny , 2005, Nature Reviews Genetics.

[12]  P. Bork,et al.  Human non-synonymous SNPs: server and survey. , 2002, Nucleic acids research.

[13]  J. Cedarbaum,et al.  The ALSFRS-R: a revised ALS functional rating scale that incorporates assessments of respiratory function , 1999, Journal of the Neurological Sciences.