|
1
|
Mutations of DEPDC5 cause autosomal dominant focal epilepsies.
|
Nat Genet
|
2013
|
1.91
|
|
2
|
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.
|
PLoS Biol
|
2010
|
1.77
|
|
3
|
Mutations in KCND3 cause spinocerebellar ataxia type 22.
|
Ann Neurol
|
2012
|
1.76
|
|
4
|
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.
|
Hum Mutat
|
2009
|
1.57
|
|
5
|
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
|
Eur J Hum Genet
|
2012
|
1.52
|
|
6
|
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
|
Am J Hum Genet
|
2013
|
1.41
|
|
7
|
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
|
Hum Mutat
|
2011
|
1.26
|
|
8
|
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
|
Am J Hum Genet
|
2013
|
1.15
|
|
9
|
A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.
|
Neurogenetics
|
2010
|
1.02
|
|
10
|
Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.
|
Ophthalmology
|
2010
|
0.99
|
|
11
|
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.
|
PLoS One
|
2013
|
0.98
|
|
12
|
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.
|
J Neurol Neurosurg Psychiatry
|
2010
|
0.90
|
|
13
|
TP53 and p53 statuses and their clinical impact in diffuse low grade gliomas.
|
J Neurooncol
|
2014
|
0.82
|
|
14
|
The impact of rare variants in FUS in essential tremor.
|
Mov Disord
|
2015
|
0.78
|
|
15
|
Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations.
|
Mov Disord
|
2011
|
0.76
|