Published in Acta Neuropathol on January 01, 1992
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. Am J Hum Genet (2011) 2.49
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics (2005) 1.88
A yeast model for the study of Batten disease. Proc Natl Acad Sci U S A (1998) 1.10
The neuropsychiatry of inborn errors of metabolism. J Inherit Metab Dis (2013) 1.07
Sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses: an immunological study. Acta Neuropathol (1995) 0.78
A dominant form of neuronal ceroid-lipofuscinosis. Brain (1971) 1.42
Diffuse lipofuscinosis of the central nervous system. Neurology (1967) 1.23
Adult ceroid-lipofuscinosis (Kufs' disease) in two brothers. Retinal and visceral storage in one; diagnostic muscle biopsy in the other. Acta Neuropathol (1979) 1.14
Central nervous system lipidosis in an adult with atrophy of the cerebellar granular layer: a case report. J Neuropathol Exp Neurol (1960) 1.12
A golgi and ultrastructural study of a dominant form of Kufs' disease. J Neurol (1980) 0.99
[ON THE ULTRASTRUCTURE OF STORED SUBSTANCES IN LATE CASES OF FAMILIAL AMAUROTIC IDIOCY]. Acta Neuropathol (1964) 0.94
Chronic amaurotic idiocy without amaurosis. World Neurol (1962) 0.94
Adult ceroid-lipofuscinosis: diagnostic value of biopsies and of neurophysiological investigations. J Neurol Neurosurg Psychiatry (1982) 0.94
[Late onset of amaurotic idiocy (Kufs) with visceral involvement simulating the clinical symptoms of presenile dementia. Clinico-pathological observation]. Arch Psychiatr Nervenkr (1970) (1972) 0.93
Morphologic studies on adult neuronal-ceroid lipofuscinosis (NCL). Clin Neuropathol (1982) 0.93
Adult neuronal ceroid-lipofuscinosis. Clin Neuropathol (1989) 0.89
Familial occurrence of adult-type neuronal ceroid lipofuscinosis. Arch Neurol (1984) 0.84
[Pigment variant of the adult type of amaurotic idiocy (Kufs) (author's transl)]. Acta Neuropathol (1973) 0.82
Disease-specific electrophysiological findings in adult ceroid-lipofuscinosis (Kufs disease). Doc Ophthalmol (1985) 0.80
[On late amaurotic idiocy with very prolonged evolution without visual disorder simulating heredo ataxia of the spastic type with oligophrenia in 2 siblings (the Da. family of Maere and Muyle)]. J Genet Hum (1961) 0.79
[Kuf's disease. A case of early dementia]. Ugeskr Laeger (1972) 0.79
A sporadic case of cerebral lipidosis in an adult (Kufs)--pathological and histochemical findings. Folia Psychiatr Neurol Jpn (1972) 0.78
A case of the adult form of amaurotic idiocy, diagnosed during life as Huntington's chorea. Psychiatr Neurol Neurochir (1968) 0.78
Occurrence of neuropathological changes and dementia of Alzheimer's disease in Down's syndrome. Ann Neurol (1985) 3.83
Treatment of children with Down syndrome and growth retardation with recombinant human growth hormone. J Pediatr (1991) 2.96
Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice. Proc Natl Acad Sci U S A (2001) 2.14
Alzheimer's disease in Down's syndrome: clinicopathologic studies. Neurology (1985) 1.75
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. J Clin Invest (1998) 1.40
Basal ganglia calcification (BGC) in Down's syndrome (DS)--another manifestation of premature aging. Ann N Y Acad Sci (1982) 1.26
Temporal accrual of complement proteins in amyloid plaques in Down's syndrome with Alzheimer's disease. Am J Pathol (2000) 1.13
Brain growth in Down syndrome subjects 15 to 22 weeks of gestational age and birth to 60 months. Clin Neuropathol (1990) 1.11
Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood. Nat Med (2001) 1.10
Clinicopathological findings associated with agenesis of the corpus callosum. Brain Dev (1987) 1.06
Conformational mimicry in Alzheimer's disease. Role of apolipoproteins in amyloidogenesis. Am J Pathol (1995) 0.99
CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells. Mol Genet Metab (2000) 0.99
Fragile X syndrome: associated neurological abnormalities and developmental disabilities. Ann Neurol (1985) 0.97
Regional differences in apolipoprotein E immunoreactivity in diffuse plaques in Alzheimer's disease brain. Neurosci Lett (1994) 0.93
Distribution of tripeptidyl peptidase I in human tissues under normal and pathological conditions. J Neuropathol Exp Neurol (2001) 0.91
Evidence of arrest of neurogenesis and synaptogenesis in brains of patients with Down's syndrome. N Engl J Med (1984) 0.90
Head circumference of children with Down syndrome (0-36 months) Am J Med Genet (1992) 0.89
Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. Hum Genet (1998) 0.88
Deposition of apolipoproteins E and J in senile plaques is topographically determined in both Alzheimer's disease and Down's syndrome brain. Brain Res (1995) 0.88
Normal ageing in adults with Down's syndrome: a longitudinal study. J Intellect Disabil Res (1996) 0.87
Ageing in higher functioning adults with Down's syndrome: an interim report in a longitudinal study. J Intellect Disabil Res (1992) 0.87
Analysis of intracellular distribution and trafficking of the CLN3 protein in fusion with the green fluorescent protein in vitro. Mol Genet Metab (1999) 0.85
Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency. Mol Genet Metab (1999) 0.85
Molecular diagnosis of and carrier screening for the neuronal ceroid lipofuscinoses. Genet Test (2000) 0.85
Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis. Hum Mutat (2000) 0.83
Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis. Ann Neurol (1998) 0.83
Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinoses. Adv Genet (2001) 0.83
Growth hormone deficiency in Down's syndrome children. J Intellect Disabil Res (1992) 0.82
The dominant form of the pigmentary orthochromatic leukodystrophy. Acta Neuropathol (1991) 0.82
Studies of membrane association of CLN3 protein. Mol Genet Metab (1999) 0.82
The monocyte-macrophage system is affected in lysosomal storage diseases: an immunoelectron microscopic study. Acta Neuropathol (1997) 0.81
Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. Genet Med (2001) 0.81
Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis. Clin Genet (1998) 0.80
Hypothalamic versus pituitary dysfunction in Down's syndrome as cause of growth retardation. J Intellect Disabil Res (1996) 0.80
Ultrastructural, neurological, and glycosaminoglycan abnormalities in lowe's syndrome. Ann Neurol (1984) 0.79
Seizures in children with Down syndrome: etiology, characteristics and outcome. Dev Med Child Neurol (1991) 0.79
Congenital ceroid-lipofuscinosis. Pediatr Neurol (1992) 0.79
Beta-protein immunoreactivity in brains of patients with neuronal ceroid lipofuscinosis: ultrastructural and biochemical demonstration. Neurosci Lett (1990) 0.79
Immunoreactivity of ceroid lipofuscin storage pigment in Batten disease with monoclonal antibodies to the amyloid beta-protein. N Engl J Med (1989) 0.79
Evidence for phosphorylation of CLN3 protein associated with Batten disease. Biochem Biophys Res Commun (1998) 0.78
Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene. Mol Genet Metab (1999) 0.78
Glycoprotein metabolism in neuronal ceroid lipofuscinosis fibroblasts. Biochem Med Metab Biol (1992) 0.77
A novel assay for lysosomal pepstatin-insensitive proteinase and its application for the diagnosis of late-infantile neuronal ceroid lipofuscinosis. Clin Chim Acta (1999) 0.77
Infantile neuronal ceroid lipofuscinosis: no longer just a 'Finnish' disease. Eur J Paediatr Neurol (2001) 0.77
CLN-encoded proteins do not interact with each other. Neurogenetics (2000) 0.77
Posttranslational modification of CLN3 protein and its possible functional implication. Mol Genet Metab (1999) 0.77
Expression studies of CLN3 protein (battenin) in fusion with the green fluorescent protein in mammalian cells in vitro. Mol Genet Metab (1999) 0.77
Increased expression of subunit c of mitochondrial ATP synthase in brain tissue from neuronal ceroid lipofuscinoses and mucopolysaccharidosis cases but not in long-term fibroblast cultures. Neurosci Lett (1993) 0.76
Immunoblotting with antiphosphoamino acid antibodies: importance of the blocking solution. Anal Biochem (1999) 0.76
CLN3 disease process: missense point mutations and protein depletion in vitro. Eur J Paediatr Neurol (2001) 0.76
First African-American child with juvenile neuronal ceroid lipofuscinosis. Am J Med Genet (1998) 0.76
Infantile neuroaxonal dystrophy in an albino girl. A cliniconeuropathologic study. Acta Neuropathol (1985) 0.76
Early amyloid-beta deposits show different immunoreactivity to the amino- and carboxy-terminal regions of beta-peptide in Alzheimer's disease and Down's syndrome brain. Neurosci Lett (1995) 0.76
Growth hormone treatment in Down syndrome. J Pediatr (1994) 0.75
Identical twins discordant for Sotos syndrome. Am J Med Genet (1998) 0.75
Normal superoxide radical production in the neuronal ceroid-lipofuscinoses. Neuropediatrics (1996) 0.75
Clinical features of a neuropathologically verified familial Alzheimer's cohort with onset in the fourth decade: comparison with senile onset Alzheimer's disease and etiopathogenic implications. Prog Clin Biol Res (1989) 0.75
Diagnosis of organic acidemia in developing countries. Clin Chim Acta (1991) 0.75
Clinical, pathologic, and neurochemical studies of an unusual case of neuronal storage disease with lamellar cytoplasmic inclusions: a new genetic disorder? J Child Neurol (1999) 0.75
Leukocytes in neuronal ceroid-lipofuscinoses: function and apoptosis. Brain Dev (1997) 0.75
Rapid detection of the two most common CLN2 mutations causing classical late infantile neuronal ceroid lipofuscinosis. Clin Chem (2000) 0.75
Reassessment of a chromosome 12q+ marker by fluorescent in situ hybridization (FISH). Clin Genet (1992) 0.75
On the association of fragile X with autism. J Autism Dev Disord (1988) 0.75
Marginal glioneuronal heterotopias in nine cases with and without cortical abnormalities. J Child Neurol (1986) 0.75
Impaired temporo-occipital blood flow in an atypical CLN1 case with late infantile onset and granular osmiophilic deposits. Eur J Paediatr Neurol (2001) 0.75
Expression studies of CLN3 protein. Neuropediatrics (1997) 0.75
Beta-amyloid protein probe hybridized to chromosome 9 in 3 Alzheimer disease individuals. Prog Clin Biol Res (1989) 0.75
Outlook for future treatment. Adv Genet (2001) 0.75
Topographic variabilities of immunoreactivity to subunit c of mitochondrial ATP synthase and lectin binding in late infantile neuronal ceroid-lipofuscinosis. Am J Med Genet (1995) 0.75
The diagnostic value of ultrastructural studies of skin-punch biopsies and buffy coat for the early diagnosis of some neurodegenerative diseases. Ann N Y Acad Sci (1986) 0.75