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Department of Medical Genetics
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top-articles
Department of Medical Genetics
11
(top 5%)
papers
1.1K
(top 2%)
citations
11
(top 2%)
h
-index
11
(top 5%)
g
-index
11
all documents
1.1K
doc citations
349
citing journals
Top Articles
#
Title
Journal
Year
Citations
1
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase
Nature Genetics
2004
359
2
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia
Nature Genetics
2002
240
3
Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia
American Journal of Human Genetics
2003
158
4
The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia
Genomics
2003
128
5
Use of a chromosome 21 cloned DNA probe for the analysis of non-disjunction in Down syndrome
Human Genetics
1984
64
6
Troyer syndrome revisited
Journal of Neurology
2004
42
7
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in theSPG4 (Spastin) gene
Human Mutation
2003
31
8
Novel mutations in the pejvakin gene are associated with autosomal recessive non‐syndromic hearing loss in Iranian families
Clinical Genetics
2007
31
9
Disruption of cellular transport: a common cause of neurodegeneration?
Lancet Neurology, The
2003
28
10
Evidence for conformational changes in Escherichia coli porphobilinogen deaminase during stepwise pyrrole chain elongation monitored by increased reactivity of cysteine-134 to alkylation by N-ethylmaleimide
Biochemistry
1995
24
11
Complicated hereditary spastic paraplegia with thin corpus callosum: Variation of phenotypic expression over time
Journal of Neurology
2004
13
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