PubRank

M P Short

Author PubWeight™ 54.05‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997 6.10
2 Schwannomatosis: a clinical and pathologic study. Neurology 1996 2.82
3 Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am J Hum Genet 1996 2.67
4 CT imaging in adults with neurofibromatosis-1: frequent asymptomatic plexiform lesions. Neurology 1998 2.32
5 Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas. Genes Chromosomes Cancer 1995 2.20
6 Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet 1997 1.96
7 Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet 1992 1.84
8 Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features. Am J Pathol 1996 1.52
9 Local protective effects of nerve growth factor-secreting fibroblasts against excitotoxic lesions in the rat striatum. J Neurosurg 1993 1.44
10 Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1. Am J Med Genet 1999 1.40
11 Do NF1 gene deletions result in a characteristic phenotype? Am J Med Genet 1997 1.23
12 Selective killing of glioma cells in culture and in vivo by retrovirus transfer of the herpes simplex virus thymidine kinase gene. New Biol 1991 1.22
13 Identification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1. Ann Hum Genet 1995 1.21
14 Tuberous sclerosis. Arch Dermatol 1994 1.20
15 Mutational analysis of patients with neurofibromatosis 2. Am J Hum Genet 1994 1.17
16 Suppression of apolipoprotein B production during treatment of cholesteryl ester storage disease with lovastatin. Implications for regulation of apolipoprotein B synthesis. J Clin Invest 1987 1.14
17 Clinical and biochemical manifestations of hyaluronidase deficiency. N Engl J Med 1996 1.11
18 Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. Hum Mol Genet 1996 1.09
19 Gene therapy of malignant brain tumors: a rat glioma line bearing the herpes simplex virus type 1-thymidine kinase gene and wild type retrovirus kills other tumor cells. J Neurosci Res 1992 1.08
20 Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity. Am J Hum Genet 1991 1.06
21 Grafting genetically modified cells into the rat brain: characteristics of E. coli beta-galactosidase as a reporter gene. Brain Res Mol Brain Res 1989 1.03
22 Intramedullary hemorrhage in spinal cord hemangioblastoma. Report of two cases. J Neurosurg 1994 1.01
23 Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. Ann Hum Genet 1998 1.00
24 Transplantation of a polymer-encapsulated cell line genetically engineered to release NGF. Exp Neurol 1993 0.97
25 Bone marrow transplantation in Maroteaux-Lamy syndrome (MPS type 6): status 40 months after BMT. Birth Defects Orig Artic Ser 1986 0.93
26 A clinical study of patients with multiple isolated neurofibromas. J Med Genet 2001 0.92
27 An experimental model of retrovirus gene therapy for malignant brain tumors. J Neurosurg 1993 0.90
28 Intracerebral implantation of nerve growth factor-producing fibroblasts protects striatum against neurotoxic levels of excitatory amino acids. Neuroscience 1991 0.88
29 Striatal degeneration induced by mitochondrial blockade is prevented by biologically delivered NGF. J Neurosci Res 1993 0.84
30 Retrovirus-mediated gene transfer of beta-nerve growth factor into mouse pituitary line AtT-20. Mol Biol Med 1988 0.84
31 Effects of biologically delivered NGF, BDNF and bFGF on striatal excitotoxic lesions. Neuroreport 1993 0.84
32 Frequent progesterone receptor immunoreactivity in tuberous sclerosis-associated renal angiomyolipomas. Mod Pathol 1998 0.82
33 Deep sylvian fissure meningioma without dural attachment in an adult: case report. Neurosurgery 1994 0.81
34 Brachial plexus myoclonus. J Neurol Neurosurg Psychiatry 1985 0.81
35 Interstitial deletion of the short arm of chromosome 3 (3p14). Am J Med Genet 1986 0.81
36 Does tuberin function as a tumor suppressor in the cerebral lesions of tuberous sclerosis? Early observations. Brain Pathol 1996 0.80
37 Cholesteryl ester storage disease: pathologic changes in an affected fetus. Am J Med Genet 1987 0.80
38 Human fetal astrocytes as an ex vivo gene therapy vehicle for delivering biologically active nerve growth factor. Hum Gene Ther 1997 0.77
39 The use of genetically altered astrocytes to provide nerve growth factor to adrenal chromaffin cells grafted into the striatum. Brain Res 1991 0.77
40 Retinoblastoma, chromosome abnormalities and oncogene expression. Ophthalmic Paediatr Genet 1987 0.77
41 A child with neurofibromatosis-1 and a lumbar epidural arteriovenous malformation. J Child Neurol 2000 0.77
42 Nerve growth factor released by transgenic astrocytes enhances the function of adrenal chromaffin cell grafts in a rat model of Parkinson's disease. Brain Res 1994 0.76
43 Neurological dimensions of psychiatry. Biol Psychiatry 1985 0.76
44 Molecular genetic screening for children at risk of neurofibromatosis 2. Arch Otolaryngol Head Neck Surg 1995 0.76
45 Convenience survey regarding autopsy/organ donation education at the 1999 American Medical Association Annual Meeting. Arch Intern Med 2000 0.75
46 Comparison of the in vitro serum microbiological activity of a triple tetracycline tablet, 300 mg B.I.D. with oxytetracyline, 250 mg Q.I.D. J Int Med Res 1981 0.75
47 Some investigations of the effect of a non-ionic surfactant on the diffusion of hydrocortisone across a cellulose acetate membrane. J Pharm Pharmacol 1971 0.75
48 Survival and differentiation within the adult mouse striatum of grafted rat pheochromocytoma cells (PC12) genetically modified to express recombinant beta-NGF. Exp Neurol 1991 0.75
49 Biopharmaceutical aspects of the design of steroidal dosage forms. Pharmazie 1973 0.75
50 Issues in implementing prenatal screening for cystic fibrosis: results of a working conference. Genet Med 2001 0.75
51 Dissolution of hydrocortisone. J Pharm Sci 1972 0.75
52 Effect of surfactants on diffusion of drugs across membranes. Nat New Biol 1972 0.75
53 A study of the formulation of steroidal suspensions. J Pharm Pharmacol 1972 0.75
54 Human XPMC2H: cDNA cloning, mapping to 9q34, genomic structure, and evaluation as TSC1. Genomics 1997 0.75
55 A de novo translocation in a family with a balanced reciprocal chromosomal translocation. Clin Genet 1986 0.75