PubRank

R Ionasescu

Author PubWeight™ 30.83‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 1986 4.13
2 Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Mol Genet 1996 1.54
3 Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy. Lancet 1986 1.09
4 Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. Am J Hum Genet 1991 1.06
5 Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 1996 1.04
6 Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Hum Mol Genet 1994 1.03
7 Charcot-Marie-Tooth neuropathy type 1A with both duplication and non-duplication. Hum Mol Genet 1993 1.01
8 Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy. Am J Med Genet 1996 0.97
9 X-linked dominant Charcot-Marie-Tooth neuropathy with 15 cases in a family genetic linkage study. Muscle Nerve 1988 0.96
10 Increased collagen synthesis by Duchenne myogenic clones. J Neurol Sci 1982 0.94
11 Fibroblast cultures in Duchenne muscular dystrophy. Alterations in synthesis and secretion of collagen and noncollagen proteins. Acta Neurol Scand 1977 0.92
12 Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene. Neurology 1995 0.90
13 Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene. Muscle Nerve 1997 0.88
14 Alterations in lipid incorporation in Duchenne muscular dystrophy. Studies of fresh and cultured muscle. J Neurol Sci 1981 0.86
15 Linkage analysis of Charcot-Marie-Tooth neuropathy (HMSN type I). J Neurol Sci 1987 0.85
16 Prenatal diagnosis of Duchenne muscular dystrophy based on Xp21.2 deletion. Neurology 1986 0.84
17 Altered protein synthesis and creatine kinase in breast muscle cell cultures from dystrophic chick embryos. J Neurol Sci 1980 0.83
18 Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene. Muscle Nerve 1997 0.82
19 Manifesting carrier of Becker muscular dystrophy (BMD): clinical and recombinant DNA studies. Acta Neurol Scand 1989 0.82
20 Alterations in creatine kinase in fresh muscle and cell cultures in Duchenne dystrophy. Ann Neurol 1981 0.82
21 Evidence for linkage of Charcot-Marie-Tooth neuropathy (CMT1) to apolipoprotein A2 (Apo-A2). Am J Hum Genet 1988 0.82
22 Protein synthesis in muscle cultures from patients with Duchenne muscular dystrophy. Calcium and A23187 ionophore dependent changes. Acta Neurol Scand 1976 0.82
23 Inherited ophthalmoplegia with intestinal pseudo-obstruction. J Neurol Sci 1983 0.81
24 Localization of the gene for X-linked spinal muscular atrophy. Neurology 1986 0.81
25 New point mutations and deletions of the connexin 32 gene in X-linked Charcot-Marie-Tooth neuropathy. Neuromuscul Disord 1995 0.81
26 Fibroblast clones for detection of Duchenne carriers. N Engl J Med 1983 0.80
27 Screening of dominantly inherited Charcot-Marie-Tooth neuropathies. Muscle Nerve 1993 0.79
28 Linkage between the loci for autosomal dominant neuronal Charcot-Marie-Tooth neuropathy (CMT1) and serum amyloid P component (APCS) on human chromosome 1. Cytogenet Cell Genet 1988 0.79
29 Mapping of the gene for X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 1992 0.78
30 A Dejerine-Sottas neuropathy family with a gene mapped on chromosome 8. Muscle Nerve 1996 0.77
31 Charcot-Marie-Tooth neuropathy related to chromosome 1. Am J Med Genet 1992 0.77
32 X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. Muscle Nerve 1992 0.75
33 Becker muscular dystrophy recombinant DNA studies in identical twins. Muscle Nerve 1988 0.75
34 Human smooth muscle cell cultures of the stomach. Morphologic and biochemical studies. In Vitro Cell Dev Biol 1985 0.75
35 Protein synthesis in muscle cultures from patients with myotonic dystrophy. Influence of A23187 ionophore and calcium: preliminary investigation. Eur Neurol 1977 0.75
36 Recombinant DNA study of Duchenne muscular dystrophy occurring in a myotonic dystrophy family. Acta Neurol Scand 1988 0.75
37 Collagen synthesis by Duchenne myogenic clones: pathogenic implications for the disease. Birth Defects Orig Artic Ser 1982 0.75
38 Inherited metabolic myopathy with storage of glycoproteins and glycosaminoglycans. Am J Med Genet 1984 0.75
39 Linkage between the loci for autosomal dominant Charcot-Marie-Tooth neuropathy type 1 and human glucocerebrosidase. Cytogenet Cell Genet 1988 0.75
40 Duchenne muscular dystrophy in monozygotic twins: deletion of 5' fragments of the gene. Am J Med Genet 1989 0.75
41 Linkage between the loci for Duffy (FY) and serum amyloid P component (APCS) on human chromosome 1. Cytogenet Cell Genet 1987 0.75
42 Collagen synthesis by Duchenne myogenic clones: pathogenic implications for the disease. Am J Med Genet 1982 0.75
43 Stimulatory effects of drugs for protein synthesis on muscle cell cultures in Duchenne dystrophy. Ann Neurol 1979 0.75