Published in J Neuropathol Exp Neurol on April 01, 1965
Progressive familial myoclonic epilepsy with Lafora bodies. Electron microscopic and histochemical study of a cerebral biopsy. Acta Neuropathol (1967) 1.51
Lysosomal accumulation of SCMAS (subunit c of mitochondrial ATP synthase) in neurons of the mouse model of mucopolysaccharidosis III B. Mol Genet Metab (2006) 1.28
Bone marrow transplantation in canine mucopolysaccharidosis I. Effects within the central nervous system. J Clin Invest (1987) 1.26
[Neuro-muscular biopsy in the diagnosis of infantile neuroaxonal dystrophy. Ultrastructural study of 3 cases 2 of them familial]. Acta Neuropathol (1972) 1.08
The AB-variant of GM2-gangliosidosis. Clinical, biochemical, and pathological studies of two patients. Acta Neuropathol (1980) 1.03
Ultrastructure of the Gunn rat substantia nigra I. Cytoplasmic changes. Acta Neuropathol (1976) 0.89
Fabry's disease on the mechanism of the peripheral nerve involvement. Acta Neuropathol (1975) 0.88
Mutations in vacuolar H+ -ATPase subunits lead to biliary developmental defects in zebrafish. Dev Biol (2012) 0.88
Alterations in the hippocampus of aged mice. Acta Neuropathol (1976) 0.87
Early prenatal diagnosis of Hurler's syndrome with termination of pregnancy and confirmatory findings on the fetus. J Med Genet (1973) 0.86
[Amaurotic idiocy connected with metachromatic leukodystrophy: transitional form or combination? Electron microscopic and histochemical finding]. Acta Neuropathol (1967) 0.85
GM2-gangliosidosis, AB variant: clinico-pathological study of a case. Acta Neuropathol (1975) 0.85
Mucopolysaccharidoses and mucolipidoses. J Clin Pathol Suppl (R Coll Pathol) (1974) 0.84
Enzyme histochemical and ultrastructural alterations in the brains of Friesian calves with GM1 gangliosidosis. Acta Neuropathol (1974) 0.83
Organelle pathology in metabolic neuromuscular disease: an overview. Can J Vet Res (1990) 0.83
The cerebellum in mucopolysaccharidosis. A histological, histochemical, and ultrastructural study. J Neurol Neurosurg Psychiatry (1974) 0.82
Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution. J Inherit Metab Dis (2010) 0.81
[The ultrastructure of protagon (pi) granules]. Acta Neuropathol (1970) 0.81
A specific ultrastructural marker for disseminated lipogranulomatosis (Faber). Arch Dermatol Res (1979) 0.77
Gangliosidosis with total hexosaminidase deficiency: clinical, biochemical and ultrastructural studies and comparison with conventional cases of Tay-Sachs disease. Acta Neuropathol (1973) 0.76
Morphological study on the hereditary neurogenic amyotrophic dogs: accumulation of lipid compound-like structures in the lower motor neuron. Acta Neuropathol (1983) 0.76
Lysosomes and mucopolysaccharidoses. Biochem J (1969) 0.75
"PKU bodies": characteristic inclusions in the brain in phenylketonuria. Acta Neuropathol (1976) 0.75
Accumulation of smooth cisterns, multivesicular bodies and "zebra" bodies in neurons. A case of peculiar storage condition. Acta Neuropathol (1971) 0.75
ULTRASTRUCTURAL STUDIES IN ALZHEIMER'S PRESENILE DEMENTIA. Am J Pathol (1964) 4.39
THE FINE STRUCTURE OF NEUROFIBRILLARY TANGLES IN ALZHEIMER'S DISEASE. J Neuropathol Exp Neurol (1963) 3.14
EXPERIMENTAL PRODUCTION OF NEUROFIBRILLARY DEGENERATION 2. ELECTRON MICROSCOPY, PHOSPHATASE HISTOCHEMISTRY AND ELECTRON PROBE ANALYSIS. J Neuropathol Exp Neurol (1965) 2.66
The fine structure of cerebral fluid accumulation. I. Swelling secondary to cold injury. Am J Pathol (1960) 2.60
Studies in Tay-Sachs disease. II. Ultrastructure of the cerebrum. J Neuropathol Exp Neurol (1963) 2.44
Experiences with metastatic neoplasms involving the spinal cord. Neurology (1959) 1.93
THE PREPARATION AND SOME PROPERTIES OF PURIFIED MYELIN FROM THE CENTRAL NERVOUS SYSTEM. J Neurochem (1964) 1.87
The fine structure of cerebral fluid accumulation. II. Swelling produced by triethyl tin poisoning and its comparison with that in the human brain. Am J Pathol (1960) 1.72
A CASE OF JUVENILE LIPIDOSIS: THE SIGNIFICANCE OF ELECTRON MICROSCOPIC AND BIOCHEMICAL OBSERVATIONS OF A CEREBRAL BIOPSY. J Neuropathol Exp Neurol (1963) 1.52
Adult lipidosis resembling Niemann-Pick's disease. Am J Pathol (1954) 1.44
Regenerating peripheral nerve sheaths following wallerian degeneration. Exp Cell Res (1957) 1.42
A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS. Bull Johns Hopkins Hosp (1964) 1.35
Studies in Tay-Sachs disease. IV. Membranous cytoplasmic bodies. J Neuropathol Exp Neurol (1963) 1.35
An unusual translocation in a case of Mongolism. J Pediatr (1963) 1.34
CENTRAL PONTINE MYELINOLYSIS. A REPORT OF TWO CASES. Arch Pathol (1963) 1.33
Membranous cytoplasmic granules in infantile amaurotic idiocy. Nature (1960) 1.33
Chromosomal mosaicism and mongolism. Lancet (1963) 1.32
FAMILIAL MOSAICISM ATTRIBUTABLE TO A NEW GENE. Lancet (1965) 1.29
Wallerian degeneration and regeneration of peripheral nerves. Prog Neurobiol (1959) 1.28
Morquio-Ullrich's disease. Report of 2 cases. J Pediatr (1961) 1.22
CONGENITAL NONPROGRESSIVE MYOPATHY. CENTRAL CORE DISEASE AND NEMALINE MYOPATHY IN ONE FAMILY. Neurology (1965) 1.20
Peripheral neuropathy in multiple sclerosis. Neurology (1958) 1.13
Aneurysm of the vein of Galen. J Neuropathol Exp Neurol (1958) 1.11
Two cases of multiple malformations with an autosomal chromosomal aberration- partial trisomy D? Helv Paediatr Acta (1962) 1.09
Encephalopathy in Salmonella infections. AMA J Dis Child (1960) 1.04
Studies in Tay-Sachs disease. I. A. methods. J Neuropathol Exp Neurol (1963) 1.01
ULTRASTRUCTURAL AND BIOCHEMICAL ANALYSIS IN CEREBRAL EDEMA ASSOCIATED WITH EXPERIMENTAL MOUSE GLIOMAS. J Neuropathol Exp Neurol (1964) 1.00
LIPID HISTOCHEMISTRY AND ELECTRON MICROSCOPY IN ADULT NIEMANN-PICK DISEASE. Am J Med (1964) 0.97
Autosomal cytogenetics. Helv Paediatr Acta (1961) 0.96
STUDIES ON PROTEIN SYNTHESIS IN BRAIN MICROSOMAL SYSTEM. J Neurochem (1964) 0.96
PHOCOMELIA AND TRISOMY E. Acta Genet Med Gemellol (Roma) (1965) 0.96
Glycogen disease of skeletal muscle; report of two cases and review of literature. Pediatrics (1955) 0.94
ULTRASTRUCTURE OF MUSCLE IN MYOTONIC DYSTROPHY: PRELIMINARY OBSERVATIONS. Am J Pathol (1964) 0.94
Studies inn Tay-Sachs disease. V. The membrane of the membranous cytoplasmic body. J Neuropathol Exp Neurol (1963) 0.93
Combined nonmetastasizing fibrosarcoma and chromophobe tumor of the pituitary. Cancer (1959) 0.93
Ocular findings in Morquio-Ullrich's disease. With report of two cases. Arch Ophthalmol (1960) 0.92
[Agenesis of the corpus callosum]. Helv Paediatr Acta (1952) 0.92
Gargoylism and Morquio's disease. AMA Am J Dis Child (1952) 0.91
TRISOMY 18. REPORT OF A CASE AND DISCUSSION OF THE SYNDROME. Arch Intern Med (1964) 0.91
Smallpox vaccination and pregnancy. Helv Paediatr Acta (1957) 0.89
Hereditary sensory neuropathy with spinal cord disease. Neurology (1963) 0.87
[Herter's infantilism and sprue; catamnestic study of 22 cases of celiac disease]. Helv Paediatr Acta (1950) 0.87
[On pseudohypoparathyroidism and hypoparathyroid cretinism]. Helv Paediatr Acta (1951) 0.87
[Electrocardiogram in poliomyelitis]. Helv Paediatr Acta (1950) 0.86
[Glycogen storage disorders]. Dtsch Med Wochenschr (1956) 0.83
General aspects of muscular hypotonia. Am J Phys Med (1961) 0.83
FOUR COMMON EYE SIGNS IN MONGOLISM. Am J Dis Child (1965) 0.82
[Determination of mercury excretion in urine and its significance in diagnosis of acrodynia]. Helv Paediatr Acta (1951) 0.82
[A familial skeletal disorder with multilocular, aseptic bone necrosis, and with osteochondritis dissecans in particular]. Helv Paediatr Acta (1951) 0.79
The cavum veli interpositi and its differentiation from cavum vergae. Am J Roentgenol Radium Ther Nucl Med (1959) 0.79
Studies in Tay-Sachs disease. I. B. Clinical and pathologic descriptions. J Neuropathol Exp Neurol (1963) 0.79
FAMILIAL MONGOLISM. HISTORY AND PRESENT STATUS. Clin Pediatr (Phila) (1964) 0.79
Two cases of non-mongoloid trisomy G. Ann Paediatr (1962) 0.78
Pertussis encephalopathy. Arch Pediatr (1959) 0.76
[Differential diagnosis of malignant lymphomas in childhood; a statistical-clinical study with case reports]. Helv Paediatr Acta (1956) 0.75
Hurler's disease and neurofibromatosis in a family. Helv Paediatr Acta (1957) 0.75
Hurler's disease in infancy and early childhood. Helv Paediatr Acta (1957) 0.75
[Critical study of biological tests in diagnosis of spasmophilic states in the child. Induced hypocalcemia; Klotz and Barbier test]. Helv Paediatr Acta (1951) 0.75
Genetic aspects of mental retardation. Arch Intern Med (1963) 0.75
[Hodgkin's disease in children; a clinical study]. Ann Paediatr (1957) 0.75
Convulsions in childhood. Ann Paediatr (1958) 0.75
Intestinal parasitism in lebanon; a statistical analysis of 1000 children. Ann Paediatr (1955) 0.75
[Cyclencephalia and congenital single lateral ventricle]. Helv Paediatr Acta (1952) 0.75
[Periodic hypopotassemic paralysis with hyperelectrolytemia in a case of dystrophia adiposogenitalis]. Helv Paediatr Acta (1952) 0.75
Cleidocranial dysostosis with osteopetrosis. Acta radiol (1954) 0.75
[Pathology of the septum pellucidum in the pneumoencephalogram]. Helv Paediatr Acta (1952) 0.75
[Chronic hypocalcemia and tetany of cerebral origin]. Helv Paediatr Acta (1953) 0.75
Aminoaciduria and mental retardation. I. J Iowa State Med Soc (1961) 0.75
Modern trends in poliomyelitis with special consideration of the outbreak in Lebanon in 1952. J Med Liban (1953) 0.75
[Not Available]. Rev Med Moyen Orient (1958) 0.75
[Narcolepsy and epilepsy; a case of narcolepsy with spikes and waves in the electroencephalogram]. Helv Paediatr Acta (1956) 0.75
[Not Available]. Acta Med Scand Suppl (1955) 0.75
Problems of childhood tuberculosis. J Med Liban (1957) 0.75
[Critical study of biological tests in diagnosis of spasmophilic states in the child. Resistance test to induced hypercalcemia; Fünfgeld's test]. Helv Paediatr Acta (1951) 0.75
[A case of craniostenosis with multiple epiphyseal abnormalities and luxations]. Helv Paediatr Acta (1952) 0.75
The clinical diagnosis of inclusion body encephalitis (Dawson). Helv Paediatr Acta (1958) 0.75
STATE UNIVERSITY OF IOWA COLLEGE OF MEDICINE: CLINICAL PATHOLOGICAL CONFERENCE. J Iowa Med Soc (1963) 0.75
[Encephalitis]. Dtsch Med Wochenschr (1959) 0.75
[The intraventricular cistern and its clinical significance]. Helv Paediatr Acta (1951) 0.75
[On electrolyte regulation disorder in salmonellosis]. Rev Med Moyen Orient (1960) 0.75
NEWS IN CYTOGENETICS. Ann Paediatr (1963) 0.75
[Antismallpox vaccination in pregnancy]. J Med Liban (1957) 0.75
[Not Available]. Schweiz Med Wochenschr (1945) 0.75
AUTOSOMAL AND SEX CHROMOSOMAL ANEUPLOIDY: AN EXHIBIT. J Iowa Med Soc (1963) 0.75
[Not Available]. Rev Med Moyen Orient (1957) 0.75
[Infantile cortical hyperostosis and its differential diagnosis]. Bibl Paediatr (1954) 0.75
[The nervous regulation of homeostasis and its pathology]. Schweiz Med Wochenschr (1959) 0.75
[Not Available]. Helv Paediatr Acta (1946) 0.75
Amino-aciduria and mental retardation. Clin Chem (1961) 0.75
[Periodic abdominal pain]. Helv Paediatr Acta (1953) 0.75
Clinical aspects of poliomyelitis. J Med Liban (1953) 0.75
Newer aspects of mongolism. Postgrad Med (1962) 0.75
[On the problem of convulsive disorders in child]. Dtsch Med Wochenschr (1953) 0.75
Congenital muscular hypertrophy. Neurology (1959) 0.75
Chromosomal aberrations. Arch Pediatr (1961) 0.75
Congenital broncho-esophageal fistula in an adult. J Med Liban (1956) 0.75
[Not Available]. Ann Paediatr (1945) 0.75
Secondary renal hyperchloremic acidosis complicated by impairment of other tubular functions. Helv Paediatr Acta (1955) 0.75
Aminoaciduria and mental retardation. II. Phenylpyruvic oligophrenia, phenylketonuria (PKU). J Iowa State Med Soc (1961) 0.75