Published in Neurology on August 01, 1969
Necrotising haemorrhagic encephalomyelopathy in an adult: Leigh's disease. J Neurol Neurosurg Psychiatry (1987) 0.93
Adult form of Leigh's disease: a clinico pathological case with CT scan examination. J Neurol Neurosurg Psychiatry (1984) 0.86
[Juvenile type of subacute necrotizing encephalomyelinopathy (Leigh) with unusual CNS-localisation]. Acta Neuropathol (1981) 0.75
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet (1999) 2.04
Desmin myopathy. Brain (2004) 1.79
Clinical and pathological study of 24 cases of gliosarcoma. J Neurosurg (1976) 1.62
Schwann cells and peripheral myelin within human central nervous tissues: the mesenchymal character of Schwann cells. J Neuropathol Exp Neurol (1971) 1.53
Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. Proc Natl Acad Sci U S A (1996) 1.44
Cytokine expression profile in idiopathic inflammatory myopathies. J Neuropathol Exp Neurol (1996) 1.34
Ultrastructure of human and experimental ependymomas. A comparative study. J Neuropathol Exp Neurol (1972) 1.31
Hearing loss in facioscapulohumeral dystrophy. Eur J Pediatr (1986) 1.28
Neuromyopathy and vitamin E deficiency in man. Neuropediatrics (1981) 1.26
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). Neuromuscul Disord (2000) 1.22
Consequences of mutations within the C terminus of the FHL1 gene. Neurology (2009) 1.18
Early lesion of Pelizaeus-Merzbacher disease: electron microscopic and biochemical study. J Neuropathol Exp Neurol (1973) 1.13
Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol (1987) 1.13
Myopathy associated with Marfan's syndrome. Fine structural and histochemical observations. Neurology (1973) 1.12
A stable silver solution for axon staining in paraffin sections. J Neuropathol Exp Neurol (1967) 1.11
Tumor-like amyloid formation (amyloidoma) in the brain. J Neurol (1981) 1.10
Eccrine sweat glands are not innervated in hereditary sensory neuropathy type IV. An electron-microscopic study. Acta Neuropathol (1981) 1.10
Inclusion body myositis presenting with isolated erector spinae paresis. Neurology (1995) 1.10
Alcohol-related acute axonal polyneuropathy: a differential diagnosis of Guillain-Barré syndrome. Arch Neurol (1998) 1.10
Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. Neuropediatrics (2002) 1.09
Mesenchymal tissues of the nervous system. The indigenous origin of brain macrophages in hypoxic states and in multiple sclerosis. J Neuropathol Exp Neurol (1969) 1.08
A mutation in myotilin causes spheroid body myopathy. Neurology (2005) 1.07
Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy. Neurology (2003) 1.07
Significance of muscle biopsies in neuronal ceroid-lipofuscinoses. J Neurol Neurosurg Psychiatry (1975) 1.07
Lesions of the pontine tegmentum and conjugate gaze paralysis. Arch Neurol (1971) 1.06
Mallory body-like inclusions in a hereditary congenital neuromuscular disease. Muscle Nerve (1983) 1.04
Tumors of neurons and their precursors. J Neuropathol Exp Neurol (1974) 1.03
Cerebral oedema and the water content of normal white matter. J Neurol Neurosurg Psychiatry (1966) 1.03
The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle-specific intermediate filament protein. Acta Neuropathol (1983) 1.03
Confirmation of virtual unmyelinated fiber absence in hereditary sensory neuropathy type IV. J Neuropathol Exp Neurol (1980) 1.03
On the ultrastructural diversity and essence of residual bodies in neuronal ceroid-lipofuscinosis. Mech Ageing Dev (1979) 1.02
An ultrastructural study of the retina in the Jansky-Bielschowsky type of neuronal ceroid-lipofuscinosis. Am J Ophthalmol (1977) 0.99
Desmin splice variants causing cardiac and skeletal myopathy. J Med Genet (2000) 0.99
Human ontogenesis. 3. Cell death in fetal muscle. Acta Neuropathol (1991) 0.99
Rigid spine syndrome in a girl. J Neurol (1982) 0.99
Studies on GM1-gangliosidosis, type II. Acta Neuropathol (1974) 0.98
Congenital myopathies--a comprehensive update of recent advancements. Acta Neurol Scand (2009) 0.98
A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects. Eur J Pediatr (1985) 0.97
Regeneration of myelin in multiple sclerosis. The role of mesenchymal cells in such regeneration and in myelin formation in the peripheral nervous system. Neurology (1966) 0.97
Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle. J Neurol Sci (2003) 0.97
Degeneration of white matter in hypoxia, acidosis and edema. J Neuropathol Exp Neurol (1973) 0.97
Arthrogryposis multiplex congenita. Report of two cases of a radicular type with familial incidence. Neurology (1968) 0.97
Human forms of neuronal ceroid-lipofuscinosis (Batten disease): consensus on diagnostic criteria, Hamburg 1992. J Inherit Metab Dis (1993) 0.96
Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis. Neuropediatrics (1988) 0.96
Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders. Am J Med Genet (1992) 0.96
Dystrophin as a diagnostic marker in Duchenne and Becker muscular dystrophy. Correlation of immunofluorescence and western blot. Neuropediatrics (1991) 0.96
Increased ammonia production during forearm ischemic work test in McArdle's disease. Klin Wochenschr (1981) 0.96
The hemorrhagic component of Wernicke's encephalopathy. Arch Neurol (1965) 0.96
Megalencephaly, mega corpus callosum, and complete lack of motor development: a previously undescribed syndrome. Am J Med Genet (1998) 0.95
Acute infantile spinal muscular atrophy. Muscle apoptosis as a proposed pathogenetic mechanism. Brain (1990) 0.95
Maturation and anaplasia in neuronal tumors of the peripheral nervous system; with observations on the glial-like tissues in the ganglioneuroblastoma. J Neuropathol Exp Neurol (1977) 0.95
Fibre type disproportion in the rigid spine syndrome. Neuropadiatrie (1977) 0.95
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. Neurology (2010) 0.95
Peripheral motor and sensory neuropathy of early childhood, simulating Werdnig-Hoffmann disease. Neuropadiatrie (1976) 0.95
Diagnostic immunohistochemistry in neuromuscular disorders. Histopathology (2005) 0.94
DNA-fragmentation and expression of apoptosis-related proteins in muscular dystrophies. Neuropathol Appl Neurobiol (1997) 0.93
Juvenile Huntington chorea: clinical, ultrastructural, and biochemical studies. Neurology (1978) 0.93
Morphologic studies on adult neuronal-ceroid lipofuscinosis (NCL). Clin Neuropathol (1982) 0.93
Macrophages in multiple sclerosis. Immunobiology (1996) 0.92
Apoptosis-related proteins in skeletal muscle fibers of spinal muscular atrophy. J Neuropathol Exp Neurol (1997) 0.92
Pigmentoarchitectonic pathology of the isocortex in juvenile neuronal ceroid-lipofuscinosis: axonal enlargements in layer IIIab and cell loss in layer V. Acta Neuropathol (1979) 0.92
A modified Holzer technic for staining glial fibers in paraffin sections. J Neuropathol Exp Neurol (1970) 0.92
Retinal ultrastructure of neuronal ceroid-lipofuscinosis in the dalmatian dog. Acta Neuropathol (1985) 0.92
DNA-fragmentation and expression of apoptosis-related proteins in experimentally denervated and reinnervated rat facial muscle. Neuropathol Appl Neurobiol (1997) 0.92
Congenital myopathy with cytoplasmic bodies. Neuropediatrics (1981) 0.92
The ultrastructural variability of non-specific lipopigments. Acta Neuropathol (1979) 0.92
Cell death and oxidative damage in inflammatory myopathies. Clin Immunol Immunopathol (1998) 0.91
Autosomal dominant "spheroid body myopathy". Muscle Nerve (1979) 0.91
X-linked dilated cardiomyopathy. Novel mutation of the dystrophin gene. Ann N Y Acad Sci (1995) 0.91
Friedreich's ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient. Acta Neuropathol (1997) 0.91
Congenital trigeminal neuropathy in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome). J Neurol Neurosurg Psychiatry (1975) 0.91
A mild juvenile variant of type IV glycogenosis. Brain Dev (1992) 0.90
Inflammatory myopathies. Curr Opin Neurol (1996) 0.90
The fine structure of the retina in neuronal ceroid-lipofuscinosis. Am J Ophthalmol (1974) 0.90
Dense core vesicles in the desmoplastic variant of cerebral neuroblastoma. Acta Neuropathol (1980) 0.90
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. Neurology (2001) 0.90
Ultrastructural pathology in emetine-induced myopathy. Acta Neuropathol (1988) 0.90
Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. Neurology (2005) 0.89
Schwann cells and regenerated peripheral myelin in multiple sclerosis: an ultrastructural study. Neurology (1975) 0.89
Some chemical principles applicable to some silver and gold staining methods for neuropathological studies. J Neuropathol Exp Neurol (1976) 0.89
Mitochondrial myopathy--a result of clofibrate/etofibrate treatment? Case report. Acta Neuropathol (1985) 0.88
Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1. Neuropediatrics (2010) 0.88
Central pontine myelinolysis. A clinical and pathological study of 10 cases. Brain (1972) 0.88
Intracranial lipomas, hydrocephalus and other CNS anomalies in oculoauriculo-vertebral dysplasia (Goldenhar-Gorlin syndrome). Childs Brain (1984) 0.88
Ultrastructural pathology of skin biopsy and fibroblast enzyme studies in a case of GM2-gangliosidosis with deficient hexosaminidase A and thermolabile hexosaminidase B. Neuropadiatrie (1980) 0.88
Rectal biopsy findings in infantile neuroaxonal dystrophy. Neuropediatrics (1980) 0.88
Adult metachromatic leukodystrophy. III. Clinical course, final stages and first biochemical results. Eur Neurol (1980) 0.88
Late-onset metachromatic leukodystrophy: diagnostic problems elucidated by a case report. J Neurol (1981) 0.88
Amyloidoma of the gasserian ganglion as a cause of symptomatic neuralgia of the trigeminal nerve: report of three cases. J Neurol (1993) 0.87
Expression of cell adhesion molecules in inflammatory myopathies. J Neuroimmunol (1995) 0.87
Sarcoma arising in oligodendroglioma of the brain. J Neuropathol Exp Neurol (1977) 0.87
Iniencephaly: a neuropathologic study. Clin Neuropathol (1983) 0.87
Dense core mitochondria in peripheral ganglia of man. Acta Neuropathol (1976) 0.87
Adult metachromatic leukodystrophy. I. Clinical manifestation in a female aged 44 years, previously diagnosed in the preclinical state. Eur Neurol (1977) 0.87
Schwannoma of the sellar region. Acta Neurochir (Wien) (1979) 0.87
Biological characteristics of peripheral nerve tumors induced with ethylnitrosourea. Acta Neuropathol (1973) 0.86
Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy. J Neurol Sci (1994) 0.86
Immunogold EM reveals a close association of plectin and the desmin cytoskeleton in human skeletal muscle. Eur J Cell Biol (1999) 0.86
DNA-fragmentation and apoptosis-related proteins of muscle cells in motor neuron disorders. Acta Neurol Scand (1997) 0.86
Edema of the gray matter of the human brain. J Neuropathol Exp Neurol (1971) 0.86