Concepedia

ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes

Susanne T. de Bot, Jan H. Veldink, Sascha Vermeer, Arjen R. Mensenkamp, F. Brugman, Hans Scheffer, Leonard H. den Berg, H.P.H. Kremer, Erik‐Jan Kamsteeg, Bart P. van de Warrenburg

Journal of Neurology · 2012 · 18 citations · 14 references

DOIFull text

Open access

Concepts

References

14

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.7K citations

, , +15

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

Ewy A. Mathé · Nucleic Acids Research · 2006 · 338 citations · Full text

, , +16

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

Christian Beetz, Rebecca Schüle, Tine Deconinck et al. · Brain · 2008 · 180 citations · Full text

, , +17

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

Michito Namekawa, Isabelle Nelson, Sylvie Forlani et al. · Neurology · 2006 · 119 citations

, , +10

Atlastin1 Mutations Are Frequent in Young-Onset Autosomal Dominant Spastic Paraplegia

Alexandra Dürr, Agnès Camuzat, Émilie Colin et al. · Archives of Neurology · 2004 · 109 citations

, , +10