Published in Arch Ophthalmol on April 01, 1990
On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family. Acta Neuropathol (1994) 1.01
Spinocerebellar degeneration with negative electroretinogram: dysfunction of the bipolar cells. Doc Ophthalmol (2004) 0.82
Human photoreceptor topography. J Comp Neurol (1990) 10.24
Interim clinical outcomes in the Collaborative Initial Glaucoma Treatment Study comparing initial treatment randomized to medications or surgery. Ophthalmology (2001) 6.82
Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann Neurol (1998) 5.42
DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell (1993) 4.57
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) Nat Genet (1999) 4.15
Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. Science (1998) 4.07
Aging of the human photoreceptor mosaic: evidence for selective vulnerability of rods in central retina. Invest Ophthalmol Vis Sci (1993) 3.79
A familial Alzheimer's disease locus on chromosome 1. Science (1995) 3.14
Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science (1992) 3.14
PaO2 levels and retrolental fibroplasia: a report of the cooperative study. Pediatrics (1977) 2.47
The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective. JAMA (1997) 2.45
Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc Natl Acad Sci U S A (1999) 2.26
The number of trait loci in late-onset Alzheimer disease. Am J Hum Genet (2000) 2.24
Neural transplantation in Huntington disease: long-term grafts in two patients. Neurology (2007) 2.15
Association of an apolipoprotein CII allele with familial dementia of the Alzheimer type. J Neurogenet (1987) 2.12
Continuous visual field test supervision may not always be necessary. Ophthalmology (1999) 2.09
Late-onset hereditary axonal neuropathies. Neurology (2008) 2.09
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet (1993) 2.07
Distribution of cones in human and monkey retina: individual variability and radial asymmetry. Science (1987) 2.02
Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes. Am J Pathol (1998) 1.93
Alzheimer's disease, apolipoprotein E4, and gender. JAMA (1994) 1.86
Recommended standards for electroretinograms and visual evoked potentials. Report of an IFCN committee. Electroencephalogr Clin Neurophysiol (1993) 1.85
Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. Arch Neurol (2001) 1.84
Beta-synuclein gene alterations in dementia with Lewy bodies. Neurology (2004) 1.82
Frontotemporal dementia and Parkinsonism linked to chromosome 17: a new group of tauopathies. Brain Pathol (1998) 1.80
Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity. J Neuropathol Exp Neurol (1998) 1.79
Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nat Genet (1997) 1.79
Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions. Neurology (2000) 1.76
The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology (2005) 1.74
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology (2003) 1.74
Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred. Ann Neurol (1994) 1.73
Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet (1982) 1.69
Genetic association studies: genes in search of diseases. Neurology (2001) 1.65
The Collaborative Initial Glaucoma Treatment Study: interim quality of life findings after initial medical or surgical treatment of glaucoma. Ophthalmology (2001) 1.60
Late-onset SCA2: 33 CAG repeats are sufficient to cause disease. Neurology (2000) 1.56
Ocular complications of arteriovenous communications of the retina. Arch Ophthalmol (1989) 1.55
Gender difference in apolipoprotein E-associated risk for familial Alzheimer disease: a possible clue to the higher incidence of Alzheimer disease in women. Am J Hum Genet (1996) 1.54
Dandy-Walker malformation: etiologic heterogeneity and empiric recurrence risks. Clin Genet (1985) 1.52
Microaerosol formation in noncontact 'air-puff' tonometry. Arch Ophthalmol (1991) 1.52
Charcot-Marie-Tooth disease: data for genetic counseling relating age to risk. Clin Genet (1978) 1.51
Increased survival of low birth weight infants: impact on the incidence of retinopathy of prematurity. Pediatrics (1989) 1.50
A familial neuronal disease presenting as intestinal pseudoobstruction. Gastroenterology (1978) 1.50
Treatment of retinal detachment due to retinopathy of prematurity. Documented disappointment. Ophthalmology (1991) 1.48
Theophylline-associated seizures with "therapeutic" or low toxic serum concentrations: risk factors for serious outcome in adults. Neurology (1991) 1.44
Absence of linkage of chromosome 21q21 markers to familial Alzheimer's disease. Science (1988) 1.44
Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet (1992) 1.43
A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology. Brain (2007) 1.40
Screening for glaucoma with frequency-doubling technology and Damato campimetry. Arch Ophthalmol (1999) 1.39
Amyloid beta protein (Abeta) deposition in chromosome 14-linked Alzheimer's disease: predominance of Abeta42(43). Ann Neurol (1996) 1.32
Myringoplasty: does the size of the perforation matter? Clin Otolaryngol Allied Sci (2002) 1.31
Apolipoprotein E genotype and Alzheimer's disease. Lancet (1993) 1.30
Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I). Ann Neurol (1983) 1.30
Retinal hemorrhages associated with ocular decompression after glaucoma surgery. Ophthalmic Surg Lasers (1996) 1.28
Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. Am J Hum Genet (1991) 1.28
Retinal lesions following long bone fractures. Ophthalmology (1985) 1.26
Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann Neurol (1994) 1.26
Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I). Am J Hum Genet (1990) 1.24
Acute macular neuroretinopathy following intravenous sympathomimetics. Retina (1989) 1.21
Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia. Neurology (1998) 1.19
Severe vincristine neuropathy in Charcot-Marie-Tooth disease type 1A. Cancer (1996) 1.19
Familial presenile dementia with psychosis associated with cortical neurofibrillary tangles and degeneration of the amygdala. Neurology (1992) 1.18
The porphyria, plumbism, pottery puzzle. JAMA (1982) 1.18
Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3). Hum Genet (1984) 1.18
Apolipoprotein E genotyping in the diagnosis of Alzheimer's disease: a cautionary view. Ann Neurol (1995) 1.18
Ophthalmic examination of children of low birth weight. Am J Ophthalmol (1969) 1.17
An audit of the early complications of turbinectomy. Ann R Coll Surg Engl (1994) 1.17
SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance. Hum Mol Genet (2000) 1.17
Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am J Hum Genet (1995) 1.17
Acute retinal pigment epitheliitis. Ophthalmology (1987) 1.14
Hazardous lead release from glazed dinnerware: a cautionary note. Sci Total Environ (1985) 1.14
Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology (1998) 1.14
Transmission and age-at-onset patterns in familial Alzheimer's disease: evidence for heterogeneity. Neurology (1990) 1.13
Cognitive and personality function in myotonic muscular dystrophy. J Neurol Neurosurg Psychiatry (1983) 1.13
Retrolental fibroplasia. Experience over two decades in one institution. Ophthalmology (1982) 1.12
Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia. Arch Neurol (2001) 1.11
A comparison of experienced clinical observers and statistical tests in detection of progressive visual field loss in glaucoma using automated perimetry. Arch Ophthalmol (1988) 1.10
Esterman disability rating in severe glaucoma. Ophthalmology (1986) 1.10
Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder. J Med Genet (1985) 1.09
Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene. Hum Mutat (1998) 1.09
Prion proteins with different conformations accumulate in Gerstmann-Sträussler-Scheinker disease caused by A117V and F198S mutations. Am J Pathol (2001) 1.07
Orbital wall thickness and the spread of infection from the paranasal sinuses. Clin Otolaryngol Allied Sci (1985) 1.05
Neuropathic pain in Charcot-Marie-Tooth disease. Arch Phys Med Rehabil (1998) 1.05
Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome. J Neurol Neurosurg Psychiatry (1978) 1.05
Familial Alzheimer's disease. Ann Neurol (1994) 1.03
Glaucoma screening using the scanning laser polarimeter. J Glaucoma (2000) 1.03
Familial Alzheimer's disease: site of mutation influences clinical phenotype. Ann Neurol (2000) 1.03
Outrageous fortune: the risk of suicide in genetic testing for Huntington disease. Am J Hum Genet (1999) 1.03
Recovery from barbiturate overdose coma with a prolonged isoelectric electroencephalogram. Neurology (1968) 1.02
Brain lipid composition of the shiverer mouse: (genetic defect in myelin development). J Neurochem (1978) 1.02
Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus. Neurology (1992) 1.02
Congenital anomalies of the optic disk. Am J Ophthalmol (1976) 1.01
Neurological manifestations of Fabry disease in female carriers. Ann Neurol (1978) 1.01
Tears of the retinal pigment epithelium. Occurrence in retinal detachments and a chorioretinal scar. Retina (1984) 1.01
Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region. Hum Genet (1991) 1.00
Ocular effects following the volcanic eruptions of Mount St Helens. Arch Ophthalmol (1983) 1.00
Familial essential ("benign") chorea. J Med Genet (1976) 1.00
Facio-oculo-acoustico-renal (FOAR) syndrome: case report and review. Am J Med Genet (1997) 1.00
X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13. Am J Hum Genet (1991) 1.00