|
1
|
Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data.
|
Lancet Neurol
|
2013
|
2.24
|
|
2
|
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.
|
Nat Genet
|
2007
|
2.17
|
|
3
|
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.
|
J Neurol Neurosurg Psychiatry
|
2012
|
1.94
|
|
4
|
Subthalamic nucleus stimulation is efficacious in patients with Parkinsonism and LRRK2 mutations.
|
Mov Disord
|
2007
|
1.58
|
|
5
|
Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression.
|
PLoS One
|
2007
|
1.49
|
|
6
|
FXTAS: new insights and the need for revised diagnostic criteria.
|
Neurology
|
2012
|
1.39
|
|
7
|
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
|
Brain
|
2012
|
1.34
|
|
8
|
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.
|
Hum Mutat
|
2011
|
1.26
|
|
9
|
Depression comorbidity in spinocerebellar ataxia.
|
Mov Disord
|
2011
|
1.15
|
|
10
|
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
|
Am J Hum Genet
|
2013
|
1.15
|
|
11
|
Neurological, cardiological, and oculomotor progression in 104 patients with Friedreich ataxia during long-term follow-up.
|
Arch Neurol
|
2007
|
1.12
|
|
12
|
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
|
Epilepsia
|
2011
|
1.09
|
|
13
|
A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease.
|
Neurobiol Dis
|
2009
|
1.04
|
|
14
|
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
|
Hum Mutat
|
2011
|
1.03
|
|
15
|
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
|
Orphanet J Rare Dis
|
2013
|
1.01
|
|
16
|
Axonal signals in central nervous system myelination, demyelination and remyelination.
|
J Neurol Sci
|
2005
|
1.00
|
|
17
|
Falls in spinocerebellar ataxias: Results of the EuroSCA Fall Study.
|
Cerebellum
|
2010
|
0.98
|
|
18
|
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
|
Orphanet J Rare Dis
|
2013
|
0.94
|
|
19
|
Association between caffeine intake and age at onset in Huntington's disease.
|
Neurobiol Dis
|
2013
|
0.94
|
|
20
|
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
|
J Med Genet
|
2012
|
0.91
|
|
21
|
Annual change in Friedreich's ataxia evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is independent of disease severity.
|
Mov Disord
|
2011
|
0.89
|
|
22
|
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.
|
Arch Neurol
|
2012
|
0.87
|
|
23
|
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
|
Orphanet J Rare Dis
|
2014
|
0.85
|
|
24
|
Self-rated health status in spinocerebellar ataxia--results from a European multicenter study.
|
Mov Disord
|
2010
|
0.83
|
|
25
|
Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.
|
Brain
|
2008
|
0.79
|
|
26
|
Is non-recognition of choreic movements in Huntington disease always pathological?
|
Neuropsychologia
|
2012
|
0.77
|
|
27
|
Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias.
|
Mov Disord
|
2011
|
0.77
|
|
28
|
Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.
|
Am J Med Genet A
|
2011
|
0.75
|
|
29
|
[Paranodal junctions of myelinated fibers: site of anchorage and interactions].
|
Med Sci (Paris)
|
2003
|
0.75
|
|
30
|
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.
|
Neurodegener Dis
|
2017
|
0.75
|
|
31
|
The most appropriate primary outcomes to design clinical trials on Huntington's disease: meta-analyses of cohort studies and randomized placebo-controlled trials.
|
Fundam Clin Pharmacol
|
2014
|
0.75
|