Published in Am J Med Genet Suppl on January 01, 1988
Spectrum of mutations in the Batten disease gene, CLN3. Am J Hum Genet (1997) 1.73
Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV. Am J Hum Genet (2007) 1.44
Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis. BMC Neurosci (2004) 1.27
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet (2001) 1.21
Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1. Am J Hum Genet (1994) 1.08
Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. PLoS One (2011) 1.01
Clinical trials in rare disease: challenges and opportunities. J Child Neurol (2013) 1.00
Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16. Am J Hum Genet (1993) 0.95
The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases. J Inherit Metab Dis (1999) 0.89
Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner. Biosci Rep (2009) 0.83
Ovine ceroid-lipofuscinosis is a proteolipid proteinosis. Can J Vet Res (1990) 0.79
Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease). Ann N Y Acad Sci (2016) 0.75
Lectin histochemistry in brains with juvenile form of neuronal ceroid-lipofuscinosis (Batten disease). Acta Neuropathol (1990) 0.75
The screening and diagnosis of autistic spectrum disorders. J Autism Dev Disord (1999) 3.77
Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology (2000) 3.70
Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science (1973) 2.91
Epileptiform EEG abnormalities in children with language regression. Neurology (2005) 2.13
Predictors and correlates of adaptive functioning in children with developmental disorders. J Autism Dev Disord (2001) 2.06
Longitudinal examination of the behavioral, language, and social changes in a population of adolescents and young adults with autistic disorder. Pediatr Neurol (1996) 1.93
Patterns of anomalies in children with malformed ears. Laryngoscope (1976) 1.51
Regression in pervasive developmental disorders: seizures and epileptiform electroencephalogram correlates. Pediatrics (1997) 1.50
Executive functioning in high-functioning children with autism. J Child Psychol Psychiatry (2001) 1.40
Acquired aphasia in children. J Child Neurol (1995) 1.39
Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship. Arch Neurol (1976) 1.38
Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities. J Pediatr (1986) 1.35
Juvenile GM2-gangliosidosis. Clinical variant of Tay-Sachs disease or a new disease. Neurology (1970) 1.33
Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy. Arch Neurol (1976) 1.29
Cockayne syndrome: unusual neuropathological findings and review of the literature. Ann Neurol (1979) 1.25
Autistic and dysphasic children. II: Epilepsy. Pediatrics (1991) 1.25
Subgroups of children with autism by cluster analysis: a longitudinal examination. J Am Acad Child Adolesc Psychiatry (2000) 1.20
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells. J Invest Dermatol (1996) 1.20
Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies. Science (1985) 1.15
Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases. Eur J Paediatr Neurol (2001) 1.13
Auditory-evoked responses in normal, brain-damaged, and deaf infants. Neurology (1967) 1.08
Spongy degeneration of the brain. A chemical study of two cases including isolation and characterization of myelin. Neurology (1968) 1.05
Autism in search of a home in the brain. Neurology (1999) 1.05
Primary intracranial Burkitt's lymphoma in an infant. Cancer (1976) 1.03
The AB-variant of GM2-gangliosidosis. Clinical, biochemical, and pathological studies of two patients. Acta Neuropathol (1980) 1.03
Language regression in childhood. Pediatr Neurol (2001) 1.02
A cytochrome-related inherited disorder of the nervous system and muscle. Arch Neurol (1970) 1.00
Chronic GM1 gangliosidosis presenting as dystonia: I. Clinical and pathological features. Ann Neurol (1981) 0.99
Improving evoked response audiometry with special reference to the use of machine scoring. Audiology (1974) 0.96
Hearing-impaired autistic children. Dev Med Child Neurol (1991) 0.96
Diagnosis and classification in autism. J Autism Dev Disord (1996) 0.95
Identification and purification of a Mr 75,000 cell surface human melanoma-associated antigen. Cancer Res (1982) 0.95
Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis. Pediatr Nephrol (1997) 0.93
Comparison of cell-surface human melanoma-associated antigens identified by rabbit and murine antibodies. Hybridoma (1982) 0.93
The cherry-red spot--myoclonus syndrome. Ann Neurol (1978) 0.92
Evoked responses to clicks and tones of varying intensity in waking adults. Electroencephalogr Clin Neurophysiol (1966) 0.91
SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease. J Inherit Metab Dis (1989) 0.91
Joubert syndrome: monozygotic twins with discordant phenotypes. J Child Neurol (1999) 0.90
The covalent linkage of protein to carbohydrate in the extracellular protein-polysaccharide from the red alga Porphyridium cruentum. Biochem J (1977) 0.90
Deafness in Cockayne's syndrome: morphological, morphometric, and quantitative study of the auditory pathway. Ann Neurol (1984) 0.88
Adult onset pigmentary orthochromatic leukodystrophy with ovarian dysgenesis. Eur J Neurol (2002) 0.87
Plasticity of the developing auditory system. Ann Otol Rhinol Laryngol (1980) 0.87
Giant neuronal mitochondria in a infant with microcephaly and seizure disorder. Arch Neurol (1969) 0.86
The clinical course of Canavan disease. Pediatr Neurol (1998) 0.86
Autistic and dysphasic children. I: Clinical characteristics. Pediatrics (1991) 0.85
Electrophysiological studies in two patients with cherry red spot--myoclonus syndrome. Epilepsia (1977) 0.85
GM2-gangliosidosis, AB variant: clinico-pathological study of a case. Acta Neuropathol (1975) 0.85
Limited pepsin digestion of human plasma albumin. J Biol Chem (1977) 0.85
Conductive hearing loss effects on children's language and scholastic skills. A review of the literature. Ann Otol Rhinol Laryngol Suppl (1979) 0.84
Structural studies on the extracellular polysaccharide of the red alga, Porhyridium. Carbohydr Res (1976) 0.83
Smoldering encephalitis in children. Neuropediatrics (1984) 0.83
Ceroid lipofuscinosis. Am J Ophthalmol (1975) 0.83
Autistic disorder versus other pervasive developmental disorders in young children: same or different? Eur Child Adolesc Psychiatry (2001) 0.83
The late positive component (P300) and information processing in sentences. Electroencephalogr Clin Neurophysiol (1975) 0.82
Evaluation of the Purdue Pegboard as a screening test for brain damage. Dev Med Child Neurol (1966) 0.82
Familial megalencephaly or hydrocephalus? Neurology (1974) 0.82
Neuropsychologic function of children with severe hearing impairment. J Speech Hear Res (1975) 0.82
Glycosaminoglycans synthesized by tumorigenic and nontumorigenic mouse melanoma cells in culture. J Natl Cancer Inst (1980) 0.82
Non-Mendelian mitochondrial inheritance as a cause of progressive genetic sensorineural hearing loss. Int J Pediatr Otorhinolaryngol (1994) 0.81
Microtubule disarray in cortical dendrites and neurobehavioral failure. I. Golgi and electron microscopic studies. Brain Res (1982) 0.81
Progressive genetic-metabolic diseases of the central nervous system in children. Pediatr Ann (1976) 0.81
Perception of vowels and consonant-vowels of varying duration in language impaired children. Neuropsychologia (1980) 0.80
Verbal auditory agnosia in children. Dev Med Child Neurol (1977) 0.80
Autosomal recessive deafnessassociated with short stature, vitiligo, muscle wasting and achalasia. Arch Otolaryngol (1971) 0.80
Etiology and pathophysiology of autistic behavior: clues from two cases with an unusual variant of neuroaxonal dystrophy. J Child Neurol (2001) 0.80
Communication disorders of preschool children: the physician's responsibility. J Dev Behav Pediatr (1988) 0.79
Cortical evoked potentials elicited by real speech words and human sounds. Electroencephalogr Clin Neurophysiol (1975) 0.79
Myoclonus in neuronal storage and Lafora diseases. Adv Neurol (1986) 0.79
Language disorders in preschool children: predictors of outcome -- a preliminary report --. Brain Dev (1980) 0.78
Consequences of congenital hearing loss - a longterm view. J Otolaryngol (1978) 0.78
Pitocin induction and autism. Am J Psychiatry (1997) 0.78
Diagnosis of hearing loss in infants using auditory evoked responses. Laryngoscope (1970) 0.78
Spino-cerebellar degeneration with polyneuropathy associated with ceroid lipofuscinosis in one family. J Child Neurol (1988) 0.77
The influence of premorbid language skills and behavior on language recovery in children with verbal auditory agnosia. J Child Neurol (2000) 0.77
[Neurodevelopmental disorders and epilepsy]. Rev Neurol (2005) 0.77
Altered protein patterns in brains of children with neuronal ceroid lipofuscinosis. Am J Med Genet (1992) 0.77
Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease. Arch Neurol (2000) 0.77
Release of surface macromolecules by human melanoma and normal cells. Cancer Res (1981) 0.77
Electrophysiologic manifestations of impaired temporal lobe auditory processing in verbal auditory agnosia. Brain Lang (1995) 0.77
Hypoactive labyrinths and motor development. Clin Pediatr (Phila) (1974) 0.77
Nonconvulsive epileptiform activity appearing as ataxia. Am J Dis Child (1982) 0.76
Improving evoked response audiometry. Results of normative studies for machine scoring. Audiology (1975) 0.76
Edeine A, edeine B, and guanidospermidine. Methods Enzymol (1983) 0.76
Fluent aphasia in children: definition and natural history. J Child Neurol (1992) 0.76
Child neurology. Eur J Neurol (2004) 0.75
Hypoplasia of hemispheric white matter, peculiar pallidal changes and dysplastic inferior olives in a child with psychomotor retardation. Acta Neuropathol (1978) 0.75
Reliability in detecting the auditory evoked response (AER) for audiometry in sleeping subjects. Electroencephalogr Clin Neurophysiol (1972) 0.75
Pediatric neurology. Prog Neurol Psychiatry (1971) 0.75
Auditory evoked responses in uncertain diagnoses. Arch Otolaryngol (1969) 0.75
Cystic astrocytoma of the brainstem. Neuropadiatrie (1971) 0.75
Tatumine, a peptide from Bacillus brevis Vm4-572-403. J Antibiot (Tokyo) (1980) 0.75
Test-retest reliability of serial pure-tone audiograms in children at a school for the deaf. J Speech Hear Res (1969) 0.75
Reaction time for pediatric audiometry. J Speech Hear Res (1970) 0.75
Auditory evoked response (AER): consistency of detection in young sleeping children. Arch Otolaryngol (1971) 0.75
Hydrocephalus or cerebral palsy--a diagnostic enigma. Clin Pediatr (Phila) (1971) 0.75
Testing for hearing loss with auditory evoked responses--successes and failures. J Commun Disord (1974) 0.75
Neuronal storage disorder with chorea and curvilinear bodies. Neurology (1974) 0.75
Neuronal storage disorders starting in childhood. Trans Am Neurol Assoc (1968) 0.75
The uptake and subcellular localization of the peptide antibiotic edeine A in HeLa cells in suspension culture. Exp Cell Res (1979) 0.75
Selective mutism. J Dev Behav Pediatr (2001) 0.75