Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
1
|
A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.
|
Cell
|
1993
|
6.29
|
2
|
Central neurofibromatosis with bilateral acoustic neuroma: genetic, clinical and biochemical distinctions from peripheral neurofibromatosis.
|
Neurology
|
1980
|
2.77
|
3
|
Parkinson's disease in 65 pairs of twins and in a set of quadruplets.
|
Neurology
|
1983
|
2.47
|
4
|
NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update.
|
Ann Intern Med
|
1990
|
2.31
|
5
|
Neurofibromatosis 2 (bilateral acoustic neurofibromatosis).
|
N Engl J Med
|
1988
|
2.16
|
6
|
Von Hippel-Lindau disease: clinical and pathological manifestations in nine families with 50 affected members.
|
Arch Intern Med
|
1976
|
1.97
|
7
|
Gilles de la Tourette's syndrome: clinical, genetic, psychologic, and biochemical aspects in 21 selected families.
|
Neurology
|
1977
|
1.97
|
8
|
Attitudes of patients and their relatives to Huntington's disease.
|
J Med Genet
|
1975
|
1.96
|
9
|
The torsion dystonias: literature review and genetic and clinical studies.
|
Neurology
|
1970
|
1.91
|
10
|
Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity.
|
Am J Med Genet
|
1994
|
1.84
|
11
|
Gilles de la Tourette syndrome: clinical and family study of 50 cases.
|
Ann Neurol
|
1980
|
1.59
|
12
|
Vestibular schwannoma (acoustic neuroma). Consensus development conference.
|
Neurosurgery
|
1992
|
1.55
|
13
|
Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities.
|
Am J Hum Genet
|
1996
|
1.52
|
14
|
A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.
|
Cell
|
1993
|
1.38
|
15
|
Definition of dystonia and classification of the dystonic states.
|
Adv Neurol
|
1976
|
1.36
|
16
|
Central neurofibromatosis with bilateral acoustic neuroma.
|
Adv Neurol
|
1981
|
1.34
|
17
|
The association of posterior capsular lens opacities with bilateral acoustic neuromas in patients with neurofibromatosis type 2.
|
Arch Ophthalmol
|
1989
|
1.34
|
18
|
Familial motor neuron disease. Evidence for at least three different types.
|
Neurology
|
1976
|
1.34
|
19
|
Superior intelligence in recessively inherited torsion dystonia.
|
Lancet
|
1970
|
1.28
|
20
|
Multiple sclerosis in twins.
|
Neurology
|
1980
|
1.26
|
21
|
Eye findings in bilateral acoustic (central) neurofibromatosis: association with presenile lens opacities and cataracts but absence of Lisch nodules.
|
N Engl J Med
|
1986
|
1.21
|
22
|
Environmental-occupational risk factors and familial associations in multiple system atrophy: a preliminary investigation.
|
Clin Auton Res
|
1991
|
1.19
|
23
|
The low concordance rate for Parkinson's disease in twins: a possible explanation.
|
Neurology
|
1984
|
1.18
|
24
|
Mutational analysis of patients with neurofibromatosis 2.
|
Am J Hum Genet
|
1994
|
1.17
|
25
|
Gilles de la Tourette syndrome: clinical and genetic studies in a midwestern city.
|
Neurology
|
1978
|
1.12
|
26
|
Genetics, geography and intelligence in the torsion dystonias.
|
Birth Defects Orig Artic Ser
|
1971
|
1.11
|
27
|
Elevated plasma dopamine- -hydroxylase activity in autosomal dominant torsion dystonia.
|
N Engl J Med
|
1973
|
1.10
|
28
|
Familial multiple sclerosis: clinical, histocompatibility, and viral serological studies.
|
Ann Neurol
|
1978
|
1.09
|
29
|
A family with histologically confirmed Alzheimer's disease.
|
Arch Neurol
|
1983
|
1.08
|
30
|
A baculovirus homolog of a Cu/Zn superoxide dismutase gene.
|
Virology
|
1991
|
1.07
|
31
|
Neurofibromatosis type 2 appears to be a genetically homogeneous disease.
|
Am J Hum Genet
|
1992
|
1.07
|
32
|
Dementia of the Alzheimer type: clinical and family study of 22 twin pairs.
|
Neurology
|
1987
|
1.04
|
33
|
Visual impairment in patients with neurofibromatosis 2.
|
Neurology
|
1993
|
1.03
|
34
|
"Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin.
|
Lancet
|
1983
|
1.02
|
35
|
Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers.
|
Neurology
|
1993
|
1.01
|
36
|
Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis.
|
N Engl J Med
|
1984
|
1.01
|
37
|
Munchausen's syndrome simulating torsion dystonia.
|
N Engl J Med
|
1985
|
0.99
|
38
|
Acoustic neuroma in the last months of pregnancy.
|
Am J Obstet Gynecol
|
1974
|
0.99
|
39
|
Bilateral acoustic neuroma in a large kindred.
|
JAMA
|
1970
|
0.97
|
40
|
Hereditary bilateral acoustic neuroma (central neurofibromatosis).
|
Birth Defects Orig Artic Ser
|
1971
|
0.96
|
41
|
A case-control study of twin pairs discordant for Parkinson's disease: a search for environmental risk factors.
|
Neurology
|
1986
|
0.94
|
42
|
Twin study of Parkinson disease.
|
Neurology
|
1981
|
0.93
|
43
|
Familial occurrence of combined pigment epithelial and retinal hamartomas associated with neurofibromatosis 2.
|
Retina
|
1992
|
0.93
|
44
|
Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis.
|
Arch Neurol
|
1994
|
0.92
|
45
|
Possible risk factors in multiple sclerosis as found in a national twin study.
|
Arch Neurol
|
1982
|
0.90
|
46
|
Catecholamine metabolism in Gilles de la Tourette's syndrome.
|
Am J Psychiatry
|
1977
|
0.89
|
47
|
Lens opacities in neurofibromatosis 2: further significant correlations.
|
Br J Ophthalmol
|
1993
|
0.88
|
48
|
The hereditary torsion dystonias (dystonia musculorum deformans): Geographical distribution and IQ in dominant and recessive forms.
|
Trans Am Neurol Assoc
|
1969
|
0.87
|
49
|
The primary hereditary dystonias: genetic classification of 768 families and revised estimate of gene frequency, autosomal recessive form, and selected bibliography.
|
Adv Neurol
|
1976
|
0.87
|
50
|
Progressive myoclonus epilepsy of Unverricht-Lundborg type: a clinical and molecular genetic study of a family from the United States with four affected sibs.
|
Neurology
|
1993
|
0.86
|
51
|
Superior intelligence in sighted retinoblastoma patients and their families.
|
J Med Genet
|
1972
|
0.86
|
52
|
Isolation and mapping of a polymorphic DNA sequence (pEFZ31) on chromosome 22 [D22S32].
|
Nucleic Acids Res
|
1988
|
0.86
|
53
|
Parkinson's disease in twins.
|
Adv Neurol
|
1984
|
0.85
|
54
|
Letter: Nerve-growth factor in disseminated neurofibromatosis;.
|
N Engl J Med
|
1975
|
0.84
|
55
|
The limited role of psychotherapy in torsion dystonia. Experience with 44 cases.
|
JAMA
|
1969
|
0.83
|
56
|
Cationic polymer and clay or metal oxide combinations for natural organic matter removal.
|
Water Res
|
2001
|
0.82
|
57
|
Computed tomography and magnetic resonance imaging in adult-onset leukodystrophy.
|
Arch Neurol
|
1988
|
0.82
|
58
|
Plasma norepinephrine and dopamine-beta-hydroxylase in dystonia.
|
Adv Neurol
|
1976
|
0.81
|
59
|
Low CSF hydroxylase cofactor (tetrahydrobiopterin) levels in inherited dystonia.
|
Lancet
|
1979
|
0.81
|
60
|
Tetrahydrobiopterin in dystonia: identification of abnormal metabolism and therapeutic trials.
|
Neurology
|
1986
|
0.81
|
61
|
Amyotrophic lateral sclerosis and parkinsonism dementia in a migrant population from Guam.
|
Neurology
|
1969
|
0.80
|
62
|
Early-onset neuroma: genetic, clinical and nosologic aspects.
|
Birth Defects Orig Artic Ser
|
1974
|
0.80
|
63
|
Neurofibromatosis 2 (bilateral acoustic or central neurofibromatosis), a treatable cause of deafness. Recommendations for screening and follow-up based on study of one large kindred.
|
Ann N Y Acad Sci
|
1991
|
0.79
|
64
|
Neurofibromatosis 1 and osseous fibrous dysplasia in a family.
|
Am J Med Genet
|
1992
|
0.79
|
65
|
Inheritance of torsion dystonia in Jews.
|
Ann Neurol
|
1981
|
0.79
|
66
|
Distribution of myocardial blood flow after left coronary occlusion.
|
J Surg Res
|
1981
|
0.78
|
67
|
Functional characterization of the brain-specific FGF-1 promoter, FGF-1.B.
|
J Biol Chem
|
1995
|
0.78
|
68
|
Family and twin studies in multiple sclerosis.
|
Ann N Y Acad Sci
|
1984
|
0.78
|
69
|
Effect of phenytoin on the mental and physical function of patients with Baltic myoclonus epilepsy.
|
Ital J Neurol Sci
|
1987
|
0.78
|
70
|
Birth outcomes following zidovudine exposure in pregnant women: the Antiretroviral Pregnancy Registry.
|
Acta Paediatr Suppl
|
1997
|
0.77
|
71
|
Adrenergic dysfunction in hereditary adult-onset leukodystrophy.
|
Neurology
|
1987
|
0.77
|
72
|
Dystonia in 61-year-old identical twins: observations over 45 years.
|
Ann Neurol
|
1984
|
0.77
|
73
|
Post-polio syndrome in twins and their siblings. Evidence that post-polio syndrome can develop in patients with nonparalytic polio.
|
Ann N Y Acad Sci
|
1995
|
0.77
|
74
|
Edward Flatau, Wladyslaw Sterling, Torsion spasm in Jewish children, and the early history of human genetics.
|
Adv Neurol
|
1976
|
0.77
|
75
|
Increased levels of a nerve-growth-factor cross-reacting protein in "central" neurofibromatosis.
|
Lancet
|
1979
|
0.76
|
76
|
Gilles de la Tourette syndrome: etiologic considerations.
|
Rev Neurol (Paris)
|
1986
|
0.75
|
77
|
Chest pain after cardiac surgery.
|
Crit Care Nurse
|
1990
|
0.75
|
78
|
Cochlear deafness, myopia, and intellectual impairment in an Amish family.
|
Arch Otolaryngol
|
1968
|
0.75
|
79
|
Letter: Levodopa in dystonia.
|
Lancet
|
1973
|
0.75
|
80
|
Studies of catecholamine metabolism in two hereditary forms of dystonia.
|
Trans Am Neurol Assoc
|
1973
|
0.75
|
81
|
A double-blind crossover study of the L-dopa treatment of torsion dystonia in identical twins.
|
Neurology
|
1970
|
0.75
|
82
|
The clinical syndrome of striatal dopamine deficiency: parkinsonism induced by MPTP.
|
N Engl J Med
|
1985
|
0.75
|
83
|
Maternal effect in central neurofibromatosis.
|
Lancet
|
1978
|
0.75
|
84
|
Bilateral acoustic neuroma (central neurofibromatosis): clinical and genetic studies.
|
Neurology
|
1970
|
0.75
|
85
|
Treatment of dystonia with tetrahydrobiopterin.
|
N Engl J Med
|
1983
|
0.75
|
86
|
Increased intelligence in recessively inherited torsion dystonia (dystonia musculorum deformans).
|
Neurology
|
1970
|
0.75
|
87
|
Pterin abnormalities in dystonia: a metabolic marker with therapeutic implications.
|
Adv Neurol
|
1988
|
0.75
|
88
|
Clinical neurogenetics: needs versus resources.
|
Neurology
|
1980
|
0.75
|
89
|
Content and composition of urinary glycosaminoglycans in the patients with myoclonus epilepsy with and without Lafora bodies.
|
Acta Neurol Scand
|
1977
|
0.75
|
90
|
Hereditary acoustic neuroma--clinical and genetic aspects in a large kindred.
|
Trans Am Neurol Assoc
|
1969
|
0.75
|
91
|
Dystonia musculorum deformans: evidence for hereditary forms.
|
Neurology
|
1968
|
0.75
|
92
|
Amyotrophic lateral sclerosis and parkinsonism dementia in a migrant population from Guam.
|
Trans Am Neurol Assoc
|
1968
|
0.75
|
93
|
In reply: the overhead question.
|
Science
|
1990
|
0.75
|
94
|
Molecular genetics, basal ganglia disorders, and the clinical neurologist.
|
Neurol Clin
|
1984
|
0.75
|
95
|
Percutaneous needle biopsy of muscle.
|
Lancet
|
1972
|
0.75
|
96
|
Hearing loss and otitis media on Guam.
|
Arch Otolaryngol
|
1970
|
0.75
|
97
|
Dopamine beta-hydroxylase and the torsion dystonias.
|
Adv Neurol
|
1976
|
0.75
|
98
|
Problems in diagnosing neurofibromatosis.
|
Adv Neurol
|
1981
|
0.75
|
99
|
Correlation between ischemic metabolism and postischemic cardiac function.
|
J Surg Res
|
1978
|
0.75
|
100
|
Long-term effects of hyperkalemic cardioplegia and local cardiac hypothermia on gross and microscopic structure of the left ventricle.
|
Surg Forum
|
1978
|
0.75
|
101
|
Torsion dystonia.
|
Johns Hopkins Med J
|
1982
|
0.75
|
102
|
Valvular aortic stenosis: a critical care challenge.
|
Dimens Crit Care Nurs
|
1984
|
0.75
|
103
|
Variable course of the hereditary dystonias.
|
Adv Neurol
|
1976
|
0.75
|
104
|
Surgery progress reports. Support for cardiac surgery patients' families.
|
AORN J
|
1984
|
0.75
|