|
1
|
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.
|
Nat Genet
|
2013
|
4.71
|
|
2
|
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
|
Nat Genet
|
2008
|
2.98
|
|
3
|
Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival.
|
Brain Dev
|
2005
|
1.02
|
|
4
|
Finger cold-induced vasodilatation, sympathetic skin response, and R-R interval variation in patients with progressive spinal muscular atrophy.
|
J Child Neurol
|
2005
|
1.01
|
|
5
|
Oxidative stress in patients with clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS).
|
Brain Dev
|
2011
|
0.93
|
|
6
|
First video report of static encephalopathy of childhood with neurodegeneration in adulthood.
|
Mov Disord
|
2013
|
0.93
|
|
7
|
Hemorrhage due to tracheoarterial fistula with severe motor and intellectual disability.
|
Pediatr Int
|
2008
|
0.90
|
|
8
|
The axonal damage marker tau protein in the cerebrospinal fluid is increased in patients with acute encephalopathy with biphasic seizures and late reduced diffusion.
|
Brain Dev
|
2009
|
0.90
|
|
9
|
Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.
|
J Hum Genet
|
2005
|
0.88
|
|
10
|
Oxidative stress and disturbed glutamate transport in spinal muscular atrophy.
|
Brain Dev
|
2002
|
0.86
|
|
11
|
Rituximab ameliorates anti-N-methyl-D-aspartate receptor encephalitis by removal of short-lived plasmablasts.
|
J Neuroimmunol
|
2013
|
0.85
|
|
12
|
Thalamic lesions in a long-surviving child with spinal muscular atrophy type I: MRI and EEG findings.
|
Brain Dev
|
2004
|
0.83
|
|
13
|
Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses.
|
Acta Neuropathol
|
2006
|
0.82
|
|
14
|
Pathological study of bronchospasms/tracheomalasia in patients with severe motor and intellectual disabilities.
|
Brain Dev
|
2005
|
0.82
|
|
15
|
Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene.
|
Mov Disord
|
2010
|
0.80
|
|
16
|
Neuropathological evaluation of the diencephalon, basal ganglia and upper brainstem in alobar holoprosencephaly.
|
Acta Neuropathol
|
2003
|
0.79
|
|
17
|
Laryngeal dystonia in a case of severe motor and intellectual disabilities due to Japanese encephalitis sequelae.
|
Brain Dev
|
2004
|
0.79
|
|
18
|
Neuropathological analysis of the brainstem and cerebral cortex lesions on epileptogenesis in hereditary dentatorubral-pallidoluysian atrophy.
|
Brain Dev
|
2007
|
0.79
|
|
19
|
Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy.
|
J Neurol
|
2012
|
0.78
|
|
20
|
[Effects of piracetam therapy in a case of Lance-Adams syndrome].
|
No To Hattatsu
|
2009
|
0.77
|
|
21
|
Autoimmune neurological disorders associated with group-A beta-hemolytic streptococcal infection.
|
Brain Dev
|
2012
|
0.75
|
|
22
|
An autopsy case of caudate nucleus lobulation accompanied with diaphragmatic eventration.
|
Brain Dev
|
2005
|
0.75
|
|
23
|
Autopsy case of multiple anomalies with hypoplastic cerebrum, eyes, and endocrine organs, mimicking Micro syndrome.
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J Child Neurol
|
2003
|
0.75
|