PubRank

B T Darras

Author PubWeight™ 38.33‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 1989 5.09
2 Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 1986 4.13
3 Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. Am J Hum Genet 1987 1.72
4 Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy. N Engl J Med 1987 1.70
5 Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy. Neurology 2010 1.63
6 Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet 2001 1.31
7 Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. Neurology 2009 1.20
8 A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. Proc Natl Acad Sci U S A 2000 1.16
9 Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. Am J Med Genet 2001 1.02
10 Safety and efficacy of carvedilol therapy for patients with dilated cardiomyopathy secondary to muscular dystrophy. Pediatr Cardiol 2007 1.01
11 Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy. Neurology 1986 1.01
12 Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13. Am J Hum Genet 1989 0.91
13 Sensitivity of single-strand conformation polymorphism (SSCP) analysis in detecting p53 point mutations in tumors with mixed cell populations. Am J Hum Genet 1993 0.91
14 Electrical impedance myography for the assessment of children with muscular dystrophy: a preliminary study. J Phys Conf Ser 2013 0.90
15 Frequency of p53 tumor suppressor gene mutations in human primary brain tumors. Neurosurgery 1993 0.89
16 The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4. Genomics 1990 0.88
17 Cloning and expression of human nebulin cDNAs and assignment of the gene to chromosome 2q31-q32. Genomics 1988 0.86
18 Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. Neuromuscul Disord 2002 0.86
19 Progression of spinal deformity in wheelchair-dependent patients with Duchenne muscular dystrophy who are not treated with steroids: coronal plane (scoliosis) and sagittal plane (kyphosis, lordosis) deformity. Bone Joint J 2014 0.84
20 Origin of mutations in two families with X-linked chronic granulomatous disease. Blood 1990 0.83
21 Novel use of a chimpanzee pseudogene for chromosomal mapping of human cytochrome c oxidase subunit IV. Gene 1990 0.83
22 Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation. Neurology 2007 0.83
23 Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity. Am J Hum Genet 1989 0.81
24 A search for X-chromosome uniparental disomy and DNA rearrangements in the Rett syndrome. Brain Dev 1992 0.81
25 A novel mutation in two families with limb-girdle muscular dystrophy type 2C. Neurology 2006 0.81
26 Atypical presentations of spinal muscular atrophy type III (Kugelberg-Welander disease). Neuromuscul Disord 2006 0.81
27 Aggressive oligodendroglioma predicted by chromosome 10 restriction fragment length polymorphism analysis. Case study. J Neurooncol 1993 0.80
28 Eastern equine encephalitis presenting with a focal brain lesion. Pediatr Neurol 1993 0.79
29 XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease. Clin Genet 2003 0.79
30 Loss of heterozygosity for alleles on chromosome 10 in human brain tumours. Neurol Res 1993 0.79
31 Clonal analysis of human astrocytomas. J Neurooncol 1994 0.77
32 Loss of heterozygosity on the short arm of chromosome 17 in human astrocytomas. Neurol Res 1992 0.77
33 Structure of the human cytochrome c oxidase subunit Vb gene and chromosomal mapping of the coding gene and of seven pseudogenes. Genomics 1991 0.76
34 Magnetic resonance spectroscopy and magnetic resonance imaging findings in Krabbe's disease. J Child Neurol 2001 0.75
35 Identification of a novel truncating mutation (S171X) in the Emerin gene in five members of a Caucasian American family with Emery-Dreifuss muscular dystrophy. Hum Mutat 2000 0.75
36 Exclusion of growth factor gene mutations as a common cause of Sotos syndrome. Am J Med Genet 2001 0.75
37 Clonal analysis of meningiomas. Neurosurgery 1996 0.75
38 Viral and bacterial pathogens of suspected sepsis in young infants. Pediatr Infect Dis 1983 0.75
39 Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome. Am J Med Genet 1998 0.75
40 Lyme disease with neurologic abnormalities. Pediatr Infect Dis 1983 0.75
41 Globoid cell leukodystrophy: cranial computed tomography and evoked potentials. J Child Neurol 1986 0.75
42 Acute care pediatric electromyography. Muscle Nerve Suppl 2000 0.75