Published in Neuropediatrics on August 01, 1981
Vitamin E, antioxidant and nothing more. Free Radic Biol Med (2007) 3.87
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Envelope glycoprotein of HIV induces interference and cytolysis resistance in CD4+ cells: mechanism for persistence in AIDS. Cell (1988) 3.12
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
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Sexual victimization in adolescent girls (age 15-20 years) enrolled in post-mandatory schools or professional training programmes in Switzerland. Acta Paediatr (1998) 1.44
Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. Proc Natl Acad Sci U S A (1996) 1.44
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Localization of the pannexin1 protein at postsynaptic sites in the cerebral cortex and hippocampus. Neuroscience (2007) 1.33
Demyelinating neuropathy and monoclonal IgM antibody to myelin-associated glycoprotein. Neurology (1983) 1.33
Cloning and characterization of human immunodeficiency virus type 1 variants diminished in the ability to induce syncytium-independent cytolysis. J Virol (1990) 1.32
Ultrastructure of human and experimental ependymomas. A comparative study. J Neuropathol Exp Neurol (1972) 1.31
Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family. EMBO J (1999) 1.28
Hearing loss in facioscapulohumeral dystrophy. Eur J Pediatr (1986) 1.28
Familial epilepsy and yellow teeth--a disease of the CNS associated with enamel hypoplasia. Helv Paediatr Acta (1974) 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
SPINE workshop on automated X-ray analysis: a progress report. Acta Crystallogr D Biol Crystallogr (2006) 1.17
The central-peripheral transition zone of cervical spinal nerve roots in Jimpy mutant and normal mice. Light- and electron-microscopic study. Acta Neuropathol (1983) 1.17
Neuromyopathy during chronic amiodarone treatment. A case report. J Neurol (1979) 1.16
Glycoprotein-associated amino acid exchangers: broadening the range of transport specificity. Pflugers Arch (2000) 1.16
[Bladder disorders in young adults with myelomeningocele: results of urodynamic-electromyographic studies]. Schweiz Med Wochenschr (1990) 1.15
Luminal heterodimeric amino acid transporter defective in cystinuria. Mol Biol Cell (1999) 1.15
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
Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency. Clin Genet (1976) 1.12
Application of high-throughput technologies to a structural proteomics-type analysis of Bacillus anthracis. Acta Crystallogr D Biol Crystallogr (2006) 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
Oct-6 (SCIP/Tst-1) is expressed in Schwann cell precursors, embryonic Schwann cells, and postnatal myelinating Schwann cells: comparison with Oct-1, Krox-20, and Pax-3. J Neurosci Res (1996) 1.09
Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. Neuropediatrics (2002) 1.09
Polyneuropathy in hypothyroidism. Clinical and nerve biopsy study of 4 cases. J Neurol (1977) 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
Planning abilities and the Tower of London: is this task measuring a discrete cognitive function? J Clin Exp Neuropsychol (2004) 1.06
Hereditary neuropathy with liability to pressure palsies. Report of two families and review of the literature. J Neurol (1982) 1.06
Lesions of the pontine tegmentum and conjugate gaze paralysis. Arch Neurol (1971) 1.06
Risk of congenital anomalies detected during antenatal serum screening in women with pregestational diabetes. QJM (2004) 1.05
Mallory body-like inclusions in a hereditary congenital neuromuscular disease. Muscle Nerve (1983) 1.04
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
Potent inhibition of small-cell lung cancer cell growth by simvastatin reveals selective functions of Ras isoforms in growth factor signalling. Oncogene (2006) 1.01
Connexin29 expression, immunocytochemistry and freeze-fracture replica immunogold labelling (FRIL) in sciatic nerve. Eur J Neurosci (2002) 1.00
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
X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. J Med Genet (1990) 0.99
Rigid spine syndrome in a girl. J Neurol (1982) 0.99
Dysmyelination in "jimpy" mouse. Electron microscopic study. J Neuropathol Exp Neurol (1974) 0.98
The anaerobic ribonucleotide reductase from Escherichia coli. The small protein is an activating enzyme containing a [4fe-4s](2+) center. J Biol Chem (1999) 0.98
Fusion genetic analysis of gibberellin signaling mutants. Plant J (2000) 0.98
Congenital myopathies--a comprehensive update of recent advancements. Acta Neurol Scand (2009) 0.98
Studies on GM1-gangliosidosis, type II. Acta Neuropathol (1974) 0.98
GRAMD4 mimics p53 and mediates the apoptotic function of p73 at mitochondria. Cell Death Differ (2010) 0.97
A case of lipogranulomatosis Farber: some clinical and ultrastructural aspects. Eur J Pediatr (1985) 0.97
Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle. J Neurol Sci (2003) 0.97
The activating component of the anaerobic ribonucleotide reductase from Escherichia coli. An iron-sulfur center with only three cysteines. J Biol Chem (2000) 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
Screening methods for thyroid hormone disruptors. Environ Health Perspect (1999) 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
Effect of intra-articular orgotein versus a corticosteroid on rheumatoid arthritis of the knees. Am J Med (1983) 0.96
Dystrophin as a diagnostic marker in Duchenne and Becker muscular dystrophy. Correlation of immunofluorescence and western blot. Neuropediatrics (1991) 0.96
Evidence for a role of the N-terminal domain in subcellular localization of the neuronal connexin36 (Cx36). J Neurosci Res (2002) 0.96
Increased ammonia production during forearm ischemic work test in McArdle's disease. Klin Wochenschr (1981) 0.96
Demyelinating polyneuropathy associated with monoclonal IgM-paraproteinaemia. Histological, ultrastructural and immunocytochemical studies. J Neurol Sci (1984) 0.96
Megalencephaly, mega corpus callosum, and complete lack of motor development: a previously undescribed syndrome. Am J Med Genet (1998) 0.95
Genetic aspects of hemifacial microsomia. Hum Genet (1983) 0.95
Fibre type disproportion in the rigid spine syndrome. Neuropadiatrie (1977) 0.95
Acute infantile spinal muscular atrophy. Muscle apoptosis as a proposed pathogenetic mechanism. Brain (1990) 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
Polyneuropathy in Waldenström's macroglobulinaemia: reduction of endoneurial IgM-deposits after treatment with chlorambucil and plasmapheresis. Acta Neuropathol (1984) 0.94
Diagnostic immunohistochemistry in neuromuscular disorders. Histopathology (2005) 0.94
Development of a locking femur nail for mice. J Biomech (2005) 0.94
DNA-fragmentation and expression of apoptosis-related proteins in muscular dystrophies. Neuropathol Appl Neurobiol (1997) 0.93
Nemaline myopathy appearing in adults as cardiomyopathy. A clinicopathologic study. Arch Neurol (1984) 0.93
Quantitation of DNase I sensitivity in Xenopus chromatin containing active and inactive globin, albumin and vitellogenin genes. Nucleic Acids Res (1981) 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
EPR and Mössbauer studies of benzoyl-CoA reductase. J Biol Chem (2000) 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
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
Rapamycin affects early fracture healing in mice. Br J Pharmacol (2008) 0.92
Apoptosis-related proteins in skeletal muscle fibers of spinal muscular atrophy. J Neuropathol Exp Neurol (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
Friedreich's ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient. Acta Neuropathol (1997) 0.91