PubRank

Tine Deconinck

Author PubWeight™ 20.53‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol 2012 4.12
2 REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain 2008 1.77
3 Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain 2014 1.55
4 Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am J Hum Genet 2007 1.50
5 Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Am J Hum Genet 2013 1.41
6 The SCN1A variant database: a novel research and diagnostic tool. Hum Mutat 2009 1.33
7 Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. J Clin Invest 2012 1.32
8 Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Brain 2008 1.21
9 Epilepsy as part of the phenotype associated with ATP1A2 mutations. Epilepsia 2007 0.99
10 Hereditary spastic paraplegia 3A associated with axonal neuropathy. Arch Neurol 2007 0.97
11 Genetic spectrum of hereditary neuropathies with onset in the first year of life. Brain 2011 0.93
12 Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach. Neurogenetics 2014 0.92
13 Pelizaeus-Merzbacher-Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation. J Child Neurol 2012 0.86
14 Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation. Eur J Paediatr Neurol 2011 0.78
15 De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. Neurology 2013 0.78
16 Cerebrotendinous xanthomatosis presenting with asymmetric parkinsonism: a case with I-123-FP-CIT SPECT imaging. Acta Neurol Belg 2012 0.76
17 Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. Brain 2016 0.75