PubRank

E Nelis

Author PubWeight™ 45.74‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord 1991 3.37
2 The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet 1992 2.18
3 Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet 1998 2.09
4 The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 1999 1.84
5 Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis. Hum Mol Genet 1993 1.82
6 Detection of tandem duplications and implications for linkage analysis. Am J Hum Genet 1994 1.60
7 Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 1996 1.58
8 Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. J Med Genet 1992 1.57
9 Charcot-Marie-Tooth disease: a clinico-genetic confrontation. Ann Hum Genet 2008 1.50
10 A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. Arch Neurol 1999 1.45
11 PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism? Nat Genet 1997 1.39
12 Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. Hum Genet 1997 1.24
13 Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology 1999 1.23
14 Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol 2001 1.11
15 Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13. Neurology 1996 1.03
16 Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent. J Med Genet 1997 1.02
17 Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. Hum Mutat 2000 0.99
18 Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. Neurology 1996 0.98
19 Charcot-Marie-Tooth disease and related peripheral neuropathies. J Peripher Nerv Syst 1997 0.96
20 Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques. Prenat Diagn 1995 0.95
21 Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II. Neurology 2006 0.92
22 Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity. Neurology 2003 0.88
23 Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24. Hum Mol Genet 1996 0.87
24 Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies. Ann Neurol 1994 0.86
25 Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype. Hum Mol Genet 1994 0.85
26 Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree. J Neurol Sci 1992 0.84
27 Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B. Hum Mutat 1995 0.81
28 GDAP1 mutations in Czech families with early-onset CMT. Neuromuscul Disord 2007 0.80
29 Molecular diagnostic testing in Charcot-Marie-Tooth disease and related disorders. Approaches and results. Ann N Y Acad Sci 1999 0.79
30 Further evidence supporting linkage of hereditary neuralgic amyotrophy to chromosome 17q. Neurology 1997 0.79
31 An adhesion test system based on Schneider cells to determine genotype-phenotype correlations for mutated P0 proteins. Genet Anal 1998 0.78
32 Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3. J Med Genet 2004 0.78
33 Identification of a 4 bp deletion (1560del4) in po gene in a family with severe Charcot-Marie-Tooth disease. Hum Mutat 1996 0.77
34 Molecular genetics of inherited peripheral neuropathies: who are the actors? Acta Neurol Belg 2000 0.77
35 Assay of transfection rate in insect cells on a single cell level. Genet Anal 1998 0.77
36 Advances in Charcot-Marie-Tooth disease research: cellular function of CMT-related proteins, transgenic animal models, and pathomechanisms. The European CMT Consortium. Neurobiol Dis 1997 0.77
37 A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients. Hum Mutat 1996 0.77
38 Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene. Neurology 2004 0.77
39 Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2. J Med Genet 1994 0.77
40 Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfolding. Neurosci Lett 1995 0.76
41 Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome. Neurosci Lett 1998 0.75
42 [Treatment of open-angle glaucoma by means of argon-laser trabeculoplasty]. Bull Soc Belge Ophtalmol 1984 0.75
43 [Subacute endocarditis on a prosthetic valve due to Actinobacillus actinomycetemcomitans. A new classic]. Rev Med Liege 1991 0.75
44 Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. Ann Hum Genet 2001 0.75
45 [Essential blepharopspasm and its treatment by selective facial nerve section]. Bull Soc Belge Ophtalmol 1983 0.75