PubRank

D Gardner-Medwin

Author PubWeight™ 86.83‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature 1987 2.67
2 Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'. Brain 2006 1.95
3 Clinical features and classification of the muscular dystrophies. Br Med Bull 1980 1.82
4 Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. Am J Hum Genet 1990 1.76
5 Benign spinal muscular atrophy arising in childhood and adolescence. J Neurol Sci 1968 1.57
6 Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta Neuropathol 1990 1.52
7 Studies of the carrier state in the Duchenne type of muscular dystrophy. 2. Quantitative electromyography as a method of carrier detection. J Neurol Neurosurg Psychiatry 1968 1.50
8 Prevalence and incidence of Becker muscular dystrophy. Lancet 1991 1.50
9 Dystrophin in skeletal muscle. II. Immunoreactivity in patients with Xp21 muscular dystrophy. J Neurol Sci 1989 1.48
10 Cellular and humoral responses to measles in subacute sclerosing panencephalitis. Lancet 1969 1.44
11 Two cases of cryptococcal meningitis, one treated with 5-fluorocytosine. Br Med J 1969 1.43
12 Diaphragmatic paralysis due to spinal muscular atrophy. An unrecognised cause of respiratory failure in infancy? Arch Dis Child 1985 1.40
13 The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities. J Neurol 1993 1.37
14 Electrical properties of muscle fibre membranes in man. J Neurol Neurosurg Psychiatry 1968 1.30
15 Tethering of the vertebral artery in the congenital arcuate foramen of the atlas vertebra: a possible cause of vertebral artery dissection in children. Dev Med Child Neurol 2001 1.23
16 Early diagnosis of Duchenne muscular dystrophy. Lancet 1978 1.23
17 Combined enzyme defect of mitochondrial fatty acid oxidation. J Clin Invest 1992 1.20
18 Interviews with parents of boys suffering from Duchenne muscular dystrophy. Dev Med Child Neurol 1983 1.17
19 Controversies about Duchenne muscular dystrophy. (1) Neonatal screening. Dev Med Child Neurol 1979 1.16
20 Myopathy associated with abnormal lipid metabolism in skeletal muscle. Lancet 1969 1.15
21 A genetic study of subacute and chronic spinal muscular atrophy in childhood. A nosological analysis of 124 index patients. J Neurol Sci 1978 1.15
22 The radiological features of hemimegalencephaly including three cases associated with proteus syndrome. Neuropediatrics 1994 1.14
23 Adult myopathy from glycogen storage disease due to acid maltase deficiency. Brain 1968 1.13
24 Angelman (happy puppet) syndrome in a girl and her brother. J Med Genet 1987 1.13
25 Myokymia with impaired muscular relaxation. Lancet 1969 1.09
26 The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history. J Neurol 1993 1.09
27 The syndrome of myosclerosis. J Neurol Neurosurg Psychiatry 1973 1.07
28 Deletion status and intellectual impairment in Duchenne muscular dystrophy. Dev Med Child Neurol 1995 1.07
29 Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. Dev Med Child Neurol 1996 1.06
30 Recognising and preventing Duchenne muscular dystrophy. Br Med J (Clin Res Ed) 1983 1.05
31 A myopathy associated with lipid storage. J Neurol Sci 1972 1.04
32 Mutation rate in Duchenne type of muscular dystrophy. J Med Genet 1970 1.04
33 Studies of the carrier state in the Duchenne type of muscular dystrophy. I. Effect of exercise on serum creatine kinase activity. J Neurol Neurosurg Psychiatry 1967 1.02
34 The detection of carriers of X-linked muscular dystrophy genes. A review of some methods studied in Newcastle upon Tyne. J Neurol Sci 1971 1.02
35 A clinical study of chronic childhood spinal muscular atrophy. A review of 141 cases. J Neurol Sci 1978 1.01
36 Achalasia of the cardia associated with hereditary cerebellar ataxia. Am J Gastroenterol 1989 1.00
37 Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups. J Med Genet 1993 0.96
38 Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1993 0.95
39 Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy. Arch Dis Child 1993 0.94
40 Nemaline myopathy. Neurology 1967 0.92
41 Observer bias in the measurement of motor unit potentials. Electroencephalogr Clin Neurophysiol 1967 0.91
42 Leukoencephalopathy after prophylactic radiation for leukaemia in ataxia telangiectasia. Arch Dis Child 1988 0.91
43 Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients. J Med Genet 1993 0.91
44 Severe muscular dystrophy in girls. J Neurol Sci 1984 0.88
45 Carrier detection in Duchenne muscular dystrophy: Assessment of the effect of age on detection-rate with serum-creatine-kinase-activity. Lancet 1979 0.87
46 CT scan appearances in Leigh's disease (subacute necrotizing encephalomyelopathy). Neuroradiology 1978 0.87
47 Nemaline myopathy. A histological and ultrastructural study of skeletal muscle from a case presenting with infantile hypotonia. Neurology 1969 0.87
48 Familial intermittent ataxia with possible X-linked recessive inheritance. Two patients with abnormal pyruvate metabolism and a response to acetazolamide. J Neurol Sci 1984 0.87
49 Severe segmental narrowing of the spinal cord: an unusual finding in congenital spastic paraparesis. Dev Med Child Neurol 1989 0.86
50 Transmission of Proteus syndrome from father to son? J Med Genet 1991 0.85
51 Arthrogryposis multiplex congenita and bilateral parietal polymicrogyria in association with the intrauterine death of a twin. Neuropediatrics 1996 0.85
52 Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis. J Med Genet 1993 0.85
53 Head circumference and intellectual performance of patients with Duchenne muscular dystrophy. Dev Med Child Neurol 1991 0.85
54 Bone marrow transplantation for glycogen storage disease type II (Pompé's disease) N Engl J Med 1986 0.84
55 CSF antigliadin antibodies and the Ramsay Hunt syndrome. Neurology 1997 0.84
56 An evaluation of some carrier detection techniques in Duchenne muscular dystrophy. J Neurol Sci 1979 0.84
57 Lipid storage myopathy due to glutaric aciduria type II: treatment of a potentially fatal myopathy. Dev Med Child Neurol 1988 0.84
58 Electrocardiographic abnormalities in carriers of Duchenne muscular dystrophy. Neurology 1980 0.83
59 Dystrophin expression in Duchenne patients with "in-frame" gene deletions. Neuropediatrics 1993 0.81
60 Absent nails, kinesogenic choreoathetosis, epilepsy and developmental delay--a new autosomal dominant disorder? Clin Dysmorphol 1997 0.81
61 Xp21 DNA probe in diagnosis of muscular dystrophy and spinal muscular atrophy. Lancet 1989 0.81
62 Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex. J Inherit Metab Dis 1988 0.80
63 Adrenergic receptor responses of vascular smooth muscle in Becker dystrophy. A muscle blood flow study using the 133Xe clearance method. J Neurol Sci 1980 0.80
64 Congenital myotonic dystrophy: fiber type abnormalities in two cases. Arch Neurol 1980 0.80
65 Winging of the scapula: the underlying biomechanics and an orthotic solution. Proc Inst Mech Eng H 1995 0.79
66 Muscle fibrosis and contractures in a pethidine addict. Br Med J 1971 0.79
67 Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene. J Med Genet 1993 0.79
68 Carrier testing in families of isolated cases of duchenne muscular dystrophy. Creatine kinase activities in female relatives of mothers with normal CK activity. J Neurol Sci 1981 0.78
69 Co-dominant inheritance of hyperekplexia and spastic paraparesis. Dev Med Child Neurol 1996 0.78
70 Congenital livedo reticularis and recurrent stroke-like episodes. Dev Med Child Neurol 1993 0.77
71 Patterns of muscle fiber-type disproportion in hypotonic infants. Arch Neurol 1984 0.77
72 Orofaciodigital syndrome type III in two sibs. J Med Genet 1993 0.77
73 Cerebrotendinous xanthomatosis: in vivo labeling of cerebral sterols and sterol esters. Trans Am Neurol Assoc 1971 0.77
74 A trial of flunarizine in the treatment of Duchenne muscular dystrophy. Muscle Nerve 1986 0.77
75 Children with genetic muscular disorders. Br J Hosp Med 1977 0.76
76 Serum pyruvate kinase in carriers of Duchenne muscular dystrophy. J Neurol Sci 1977 0.76
77 Vigabatrin monotherapy in resistant neonatal seizures. Seizure 1995 0.76
78 Abnormalities of carbohydrate metabolism and of OCT gene function in the Rett syndrome. Brain Dev 1990 0.76
79 Dystrophin analysis in the diagnosis of muscular dystrophy. Arch Dis Child 1989 0.76
80 Encephalitis lethargica-like illness in a five-year-old. Dev Med Child Neurol 1991 0.76
81 21-year follow-up of myokymia with impaired muscle relaxation. Lancet 1990 0.76
82 Familial intermittent ataxia due to a defect of the E1 component of pyruvate dehydrogenase complex. J Neurol Sci 1989 0.75
83 Spinal muscular atrophy associated with HLA-B7. Br Med J 1979 0.75
84 Muscular dystrophy in young girls. Br Med J 1970 0.75
85 Congenital myotonic dystrophy. Pediatr Neurol 1995 0.75
86 Population frequencies of three DNA alleles linked to the Duchenne muscular dystrophy gene. J Med Genet 1989 0.75
87 Encephalomyelitis with seroconversion to Listeria monocytogenes. Arch Dis Child 1991 0.75
88 Objectives in the management of Duchenne muscular dystrophy. Isr J Med Sci 1977 0.75
89 Carrier detection in Duchenne muscular dystrophy. Lancet 1979 0.75
90 Rehabilitation in muscular dystrophy. Int Rehabil Med 1980 0.75
91 A Double-blind Controlled Trial of Penicillamine Therapy in Duchenne Muscular Dystrophy - Interim Comments [Abstract]. Proc R Soc Med 1977 0.75
92 Second International Child Neurology Congress [proceedings]. Dev Med Child Neurol 1980 0.75
93 Allopurinol in Duchenne dystrophy. Lancet 1980 0.75
94 Why should we measure serum levels of anti-convulsant drugs in epilepsy? Dev Med Child Neurol 1973 0.75
95 Thalamic infarction in childhood due to extracranial vertebral artery abnormalities. Neuropediatrics 1994 0.75
96 Hemispherectomy for intractable seizures. Dev Med Child Neurol 1991 0.75
97 Muscular dystrophy: can it be prevented? Nurs Times 1978 0.75
98 Quantitative EMG as a method of carrier detection in X-linked muscular dystrophy. Electroencephalogr Clin Neurophysiol 1968 0.75
99 Management of muscular dystrophy. Physiotherapy 1977 0.75
100 Duchenne muscular dystrophy. Use of rubidium chloride Rb 86 in the detection of carriers of the gene. Arch Neurol 1971 0.75
101 Children in the wider world: compassion and the selfish gene. Dev Med Child Neurol 1994 0.75
102 Fibrinolytic activity in venous blood of patients with muscular dystrophy. Neurology 1971 0.75
103 Neutrophil function in Duchenne muscular dystrophy. J Neurol Sci 1986 0.75
104 HLA antigens and spinal muscular atrophy. J Neurogenet 1984 0.75
105 Myokymia with impaired muscular relaxation. Lancet 1969 0.75
106 Writing for parents. Dev Med Child Neurol 1991 0.75
107 Medical audit and the paediatric neurologist. Dev Med Child Neurol 1990 0.75
108 Failure of first-line therapy with intravenous immunoglobulin in a child with scleromyositis. Br J Rheumatol 1996 0.75
109 Dystonia and pyramidal signs after thiethylperazine overdose. Lancet 1969 0.75
110 Multiple chromosome rearrangements in a childhood ependymoma. Cancer Genet Cytogenet 1988 0.75
111 Serum creatine kinase and pyruvate kinase activities in normal adolescent females. J Neurol Sci 1982 0.75
112 New medical classifications and languages. Dev Med Child Neurol 1995 0.75
113 Controversies about Duchenne muscular dystrophy. (2) Bracing for ambulation. Dev Med Child Neurol 1979 0.75
114 Familial paroxysmal rhabdomyolysis: management of two cases of the non-exertional type. Dev Med Child Neurol 1992 0.75
115 Respiratory chain dysfunction in progressive neuronal degeneration of childhood with liver disease. J Child Neurol 1996 0.75
116 Cerebral gigantism? Dev Med Child Neurol 1969 0.75
117 Intracranial calcification and seizures: a case of central neurofibromatosis. Dev Med Child Neurol 1990 0.75