PubRank

E P Hoffman

Author PubWeight™ 210.49‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987 16.01
2 Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts. Nature 1989 4.08
3 Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell 1988 3.57
4 SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. Neurology 2010 3.37
5 Immunoelectron microscopic localization of dystrophin in myofibres. Nature 1988 3.37
6 Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology. J Cell Biol 2000 3.34
7 Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet 1991 2.79
8 The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. Nature 1988 2.75
9 Mutations in the integrin alpha7 gene cause congenital myopathy. Nat Genet 1998 2.66
10 Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 1995 2.53
11 Early onset of inflammation and later involvement of TGFbeta in Duchenne muscular dystrophy. Neurology 2005 2.53
12 Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. Neurology 2004 2.48
13 Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann Neurol 2001 2.29
14 Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science 1990 1.99
15 Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28. Am J Hum Genet 1997 1.99
16 Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28. Am J Hum Genet 1998 1.98
17 A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. Nature 1991 1.92
18 Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum Mol Genet 1995 1.89
19 Normal myogenic cells from newborn mice restore normal histology to degenerating muscles of the mdx mouse. J Cell Biol 1990 1.86
20 Mutations in the sarcoglycan genes in patients with myopathy. N Engl J Med 1997 1.82
21 Elevated basic fibroblast growth factor in the serum of patients with Duchenne muscular dystrophy. Ann Neurol 1994 1.73
22 Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology 1999 1.72
23 Molecular cloning, structure, and chromosomal localization of the human inducible nitric oxide synthase gene. J Biol Chem 1994 1.64
24 Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei. Neurology 1995 1.62
25 Identification of a chromosome 6-encoded dystrophin-related protein. J Biol Chem 1990 1.60
26 The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. Neurology 1991 1.59
27 Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification. Neurobiol Dis 2001 1.59
28 Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann Neurol 1995 1.58
29 Genetic mapping and dominance of the amber suppressor, Su1 (supD), in Escherichia coli K-12. J Bacteriol 1970 1.57
30 Selective loss of sarcolemmal nitric oxide synthase in Becker muscular dystrophy. J Exp Med 1996 1.56
31 Caveolin-3 in muscular dystrophy. Hum Mol Genet 1998 1.55
32 Roentgenographic skeletal injury patterns in parachute jumping. Am J Sports Med 1983 1.55
33 Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. Neurology 2002 1.54
34 A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype. Ann Neurol 1998 1.48
35 Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet 1990 1.48
36 Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 1996 1.46
37 Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res 1995 1.45
38 Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients. Neurology 1998 1.42
39 Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses. Proc Natl Acad Sci U S A 1989 1.40
40 Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 1997 1.40
41 Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Hum Mol Genet 1996 1.39
42 MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 2001 1.36
43 Decreased platelet expression of myosin regulatory light chain polypeptide (MYL9) and other genes with platelet dysfunction and CBFA2/RUNX1 mutation: insights from platelet expression profiling. J Thromb Haemost 2006 1.35
44 Dystrophin deficiency causes lethal muscle hypertrophy in cats. J Neurol Sci 1992 1.33
45 A role for mast cells in the progression of Duchenne muscular dystrophy? Correlations in dystrophin-deficient humans, dogs, and mice. J Neurol Sci 1994 1.28
46 Regenerated mdx mouse skeletal muscle shows differential mRNA expression. J Appl Physiol (1985) 2002 1.26
47 A new locus for hemiplegic migraine maps to chromosome 1q31. Neurology 1997 1.23
48 Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. Neurology 2002 1.20
49 Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding. Nat Genet 1992 1.20
50 A deletion of the 3' end of the Drosophila melanogaster hsp70 gene increases stability of mutant mRNA during recovery from heat shock. Mol Cell Biol 1985 1.20
51 Full functional rescue of a complete muscle (TA) in dystrophic hamsters by adeno-associated virus vector-directed gene therapy. J Virol 2000 1.20
52 The rumpshaker mutation in spastic paraplegia. Nat Genet 1994 1.19
53 rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy. Gene Ther 1999 1.17
54 A structural gene for seryl-tRNA synthetase in Escherichia coli K12. J Mol Biol 1970 1.17
55 Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy. Neuromuscul Disord 2001 1.16
56 Evidence for the association of dystrophin with the transverse tubular system in skeletal muscle. J Biol Chem 1988 1.16
57 A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Neurology 2000 1.16
58 Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype. Ment Retard Dev Disabil Res Rev 2002 1.14
59 Traumatic arachnoidal diverticulum associated with paraplegia. Case report. J Neurosurg 1973 1.11
60 Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. Am J Med Genet 1991 1.10
61 Heart involvement in muscular dystrophies due to sarcoglycan gene mutations. Muscle Nerve 1999 1.08
62 Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy. Am J Hum Genet 1992 1.08
63 Toward fully automated genotyping: allele assignment, pedigree construction, phase determination, and recombination detection in Duchenne muscular dystrophy. Am J Hum Genet 1994 1.07
64 Duchenne muscular dystrophy. Curr Opin Rheumatol 1992 1.07
65 Feline muscular dystrophy with dystrophin deficiency. Am J Pathol 1989 1.03
66 Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy. Ann Neurol 1996 1.03
67 Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression. Hum Mol Genet 1999 1.02
68 The basal lamina is a physical barrier to herpes simplex virus-mediated gene delivery to mature muscle fibers. J Virol 1996 1.02
69 The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy. J Neurol Neurosurg Psychiatry 2006 1.02
70 Dystrophin-deficient myofibers are vulnerable to mast cell granule-induced necrosis. Neuromuscul Disord 1994 1.02
71 A novel X chromosome-linked genetic cause of recurrent spontaneous abortion. Am J Obstet Gynecol 2001 1.02
72 Recruitment of mast cells to muscle after mild damage. J Neurol Sci 1996 1.01
73 Unique PABP2 mutations in "Cajuns" suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry. Am J Med Genet 1999 1.01
74 Effect of Sul gene dosage on the production of suppressed alkaline phosphatase in Escherichia coli K12. J Mol Biol 1970 1.00
75 X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant. Am J Med Genet 1996 1.00
76 Molecular genetics of familial spastic paraplegia: a multitude of responsible genes. J Neurol Sci 1996 0.99
77 The genomic structure of the human skeletal muscle sodium channel gene. Hum Mol Genet 1992 0.99
78 The ovarian, ecdysterone, and heat-shock-responsive promoters of the Drosophila melanogaster hsp27 gene react very differently to perturbations of DNA sequence. Mol Cell Biol 1987 0.99
79 Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion. Am J Hum Genet 1999 0.99
80 Dystrophin distribution in heterozygote MDX mice. Muscle Nerve 1989 0.98
81 Correct temperature induction and developmental regulation of a cloned heat shock gene transformed into the Drosophila germ line. Mol Cell Biol 1984 0.98
82 Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet 1997 0.97
83 Quadriceps myopathy: forme fruste of Becker muscular dystrophy. Ann Neurol 1990 0.96
84 Cross-reactive protein in Duchenne muscle. Lancet 1989 0.96
85 Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder. Neurology 2008 0.96
86 Viral gene delivery to skeletal muscle: insights on maturation-dependent loss of fiber infectivity for adenovirus and herpes simplex type 1 viral vectors. Hum Gene Ther 1997 0.94
87 Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population. Neurology 1999 0.94
88 Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17. Hum Genet 1991 0.93
89 Molecular diagnosis and modern management of Duchenne muscular dystrophy. Neurol Clin 1994 0.92
90 Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q. Biochem Biophys Res Commun 1992 0.92
91 Dystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrier. Am J Hum Genet 1989 0.92
92 RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance. J Clin Invest 1997 0.91
93 Linkage of hyperkalaemic periodic paralysis in quarter horses to the horse adult skeletal muscle sodium channel gene. Anim Genet 1992 0.91
94 Pathophysiology of sodium channelopathies. Studies of sodium channel expression by quantitative multiplex fluorescence polymerase chain reaction. J Biol Chem 1994 0.90
95 A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation. Neurology 2001 0.90
96 Dystrophin: the protein product of the Duchene muscular dystrophy locus. 1987. Biotechnology 1992 0.89
97 Polylysine modification of adenoviral fiber protein enhances muscle cell transduction. Hum Gene Ther 1999 0.89
98 In vivo sodium channel structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4. Soc Gen Physiol Ser 1995 0.89
99 Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17. J Med Genet 1991 0.89
100 Duchenne and Becker muscular dystrophies: genetics, prenatal diagnosis, and future prospects. Clin Perinatol 1990 0.89
101 Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient. Muscle Nerve 1998 0.89
102 Enormous dystrophin in a patient with Becker muscular dystrophy. Neurology 1990 0.89
103 Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). Neurogenetics 1997 0.89
104 Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect. Neurology 1996 0.88
105 The clinical spectrum of sarcoglycanopathies. Neurology 1999 0.88
106 Towards fully automated genotyping: use of an X linked recessive spastic paraplegia family to test alternative analysis methods. Hum Genet 1995 0.87
107 The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more. Curr Opin Neurol 2001 0.87
108 Molecular biology of Duchenne muscular dystrophy. Trends Neurosci 1988 0.86
109 Adiposity attenuates muscle quality and the adaptive response to resistance exercise in non-obese, healthy adults. Int J Obes (Lond) 2010 0.86
110 Regional localization of the murine Duchenne muscular dystrophy gene on the mouse X chromosome. Somat Cell Mol Genet 1987 0.86
111 Autosomal recessive muscular dystrophy and mutations of the sarcoglycan complex. Neuromuscul Disord 1996 0.86
112 Molecular diagnostics of Duchenne/Becker dystrophy: new additions to a rapidly expanding literature. J Neurol Sci 1991 0.85
113 Delivery of alpha- and beta-sarcoglycan by recombinant adeno-associated virus: efficient rescue of muscle, but differential toxicity. Hum Gene Ther 2002 0.85
114 A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2. Hum Mol Genet 1995 0.85
115 A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy. Neurology 2000 0.85
116 Recent advances in dystrophin research. Curr Opin Neurobiol 1991 0.84
117 Muscle maturation: implications for gene therapy. Mol Med Today 1998 0.84
118 Cardiac transplantation in a Duchenne muscular dystrophy carrier. Neuromuscul Disord 1998 0.84
119 Duchenne/Becker muscular dystrophy: a short overview of the gene, the protein, and current diagnostics. Br Med Bull 1989 0.84
120 Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis. Hum Mol Genet 1994 0.84
121 Phospholipase A2 activity in dystrophinopathies. Neuromuscul Disord 1995 0.83
122 X inactivation and dystrophin studies in a t(X;12) female: evidence for biochemical normalization in Duchenne muscular dystrophy carriers. Am J Med Genet 1992 0.83
123 Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria. Neuropediatrics 2002 0.83
124 Role of the nerve in determining fetal skeletal muscle phenotype. Dev Dyn 1998 0.83
125 Asymptomatic dystrophinopathy. Am J Med Genet 1997 0.82
126 alpha-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations. J Neurol Sci 1996 0.82
127 Targeted delivery of plasmid DNA to myogenic cells via transferrin-conjugated peptide nucleic acid. Mol Ther 2000 0.82
128 Eosinophilic fibrohistiocytic lesion of bone marrow: a distinctive new morphologic finding, probably related to drug hypersensitivity. Blood 1972 0.82
129 In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy. Am J Obstet Gynecol 1991 0.81
130 Pilot study of myoblast transfer in the treatment of Becker muscular dystrophy. Neurology 1998 0.81
131 Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions. Am J Med Genet 1992 0.81
132 Large-scale disruption of microtubule pathways in morphologically normal human spastin muscle. Neurology 2004 0.81
133 Cerebral thrombosis associated with Amicar therapy. Radiology 1979 0.81
134 Molecular diagnosis of 21-hydroxylase deficiency: detection of four mutations on a single gel. Biochem Med Metab Biol 1994 0.81
135 Molecular basis of neuromuscular diseases. Phys Med Rehabil Clin N Am 1998 0.81
136 SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy: predicting the severity of Duchenne muscular dystrophy: implications for treatment. Neurology 2011 0.81
137 Leptin and leptin receptor genetic variants associate with habitual physical activity and the arm body composition response to resistance training. Gene 2012 0.80
138 Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy. Hum Mutat 2000 0.80
139 Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis. Clin Chem 1989 0.80
140 Hyperandrogenism and manifesting heterozygotes for 21-hydroxylase deficiency. Biochem Mol Med 1997 0.80
141 Herpes simplex virus vector-mediated dystrophin gene transfer and expression in MDX mouse skeletal muscle. J Gene Med 2000 0.80
142 Sex Chromosome Genetics '99. The X chromosome and recurrent spontaneous abortion: the significance of transmanifesting carriers. Am J Hum Genet 1999 0.79
143 Dystrophin analysis in duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling. Am J Hum Genet 1989 0.79
144 Current status of genetic discoveries in migraine: familial hemiplegic migraine and beyond. Curr Opin Neurol 1998 0.78
145 Segmental kidney resection in children with small, hypertension-producing intrarenal vascular lesions. Radiology 1982 0.78
146 Hyperkalemic periodic paralysis with cardiac dysrhythmia: a novel sodium channel mutation? Ann Neurol 1995 0.78
147 A rippling muscle disease gene is localized to 1q41: evidence for multiple genes. Neurology 1994 0.78
148 Counting muscular dystrophies in the post-molecular census. J Neurol Sci 1999 0.78
149 Fetal muscle biopsy: collaborative experience with varied indications. Obstet Gynecol 1994 0.78
150 Lymphoma-like presentation of Kaposi's sarcoma. Three cases without characteristic skin lesions. Arch Dermatol 1966 0.77
151 Prenatal diagnosis of Duchenne muscular dystrophy by fetal muscle biopsy. Hum Genet 1992 0.77
152 Dystrophin associated proteins fail in filling dystrophin's shoes. Nat Genet 1994 0.77
153 Muscle histology in Becker muscular dystrophy. Muscle Nerve 1991 0.77
154 Dystrophin-positive myotubes in innervated muscle cultures from Duchenne and Becker muscular dystrophy patients. Neuromuscul Disord 1993 0.77
155 Selection and use of ligands for receptor-mediated gene delivery to myogenic cells. Gene Ther 1997 0.77
156 Extracranial PICA aneurysms. J Neurosurg 1981 0.77
157 Plasma membrane cytoskeleton of muscle: a fine structural analysis. Microsc Res Tech 2000 0.77
158 Proteolytic fragment or new gene product? Nature 1988 0.77
159 Confocal analysis of the dystrophin protein complex in muscular dystrophy. Muscle Nerve 2001 0.77
160 Variable histological expression of dystrophinopathy in two females. Acta Neuropathol 1999 0.76
161 Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy family. Am J Med Genet 1994 0.76
162 17 alpha-hydroxylase/17,20-lyase dysregulation is not caused by mutations in the coding regions of CYP17. J Pediatr Adolesc Gynecol 1998 0.76
163 In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dystrophy. Fetal Diagn Ther 1995 0.76
164 An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy. Neuropediatrics 1995 0.75
165 Huntington's disease. Their loss is our gain? Curr Biol 1995 0.75
166 Adeno-associated virus in normal and myositis human skeletal muscle. Neurology 2000 0.75
167 In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy in a female fetus "suddenly at risk". Am J Med Genet 1993 0.75
168 Hemiplegic migraine--downstream of a single-base change. N Engl J Med 2001 0.75
169 Ion channels--molecular divining rods hit their clinical mark. N Engl J Med 1997 0.75
170 Computed tomography in acute pyelonephritis associated with diabetes. Radiology 1980 0.75
171 Endoscopically assisted, ultrasound-guided fetal muscle biopsy. Fetal Diagn Ther 1995 0.75
172 Duchenne muscular dystrophy and myotonic dystrophy in the same patient. Am J Med Genet 1995 0.75
173 Prenatal diagnosis in a family affected with beta-sarcoglycan muscular dystrophy. Neuromuscul Disord 1999 0.75
174 Physical mapping of the rippling muscle disease locus. Genomics 1999 0.75
175 Human bHLH transcription factor gene myogenin (MYOG): genomic sequence and negative mutation analysis in patients with severe congenital myopathies. Genomics 1999 0.75
176 Identification of a Thr-to-Met mutation in the skeletal muscle sodium channel gene in hyperkalemic periodic paralysis of a Japanese family. Ann N Y Acad Sci 1993 0.75
177 Chromophobe adenoma of pituitary with acromegaly and acoustic neurinoma occurring in the same patient. A case report and review of the literature. Bull Los Angeles Neurol Soc 1973 0.75
178 Extensive genetic heterogeneity in the "pure" form of autosomal dominant familial spastic paraplegia (Strümpell's disease). Muscle Nerve 1996 0.75
179 Unusual heart sounds associated with venous air embolism. Case report. J Neurosurg 1970 0.75
180 The problems of spina bifida and cranium bifidum. A survey of contemporary ideas. Clin Pediatr (Phila) 1965 0.75
181 Laryngeal and pharyngeal dysfunction in horses homozygous for hyperkalemic periodic paralysis. J Am Vet Med Assoc 1996 0.75
182 Intelligent DNA-based molecular diagnostics using linked genetic markers. Proc Int Conf Intell Syst Mol Biol 1994 0.75
183 Molecular and cytogenetic studies of X inactivation in a patient with 46,X,del(X)(q22). J Pediatr Adolesc Gynecol 1997 0.75