Published in Pediatrics on June 01, 1972
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation. J Clin Invest (2013) 1.79
Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin. J Cell Biol (2002) 1.21
Dysfunctions of neuronal and glial intermediate filaments in disease. J Clin Invest (2009) 1.21
Modest loss of peripheral axons, muscle atrophy and formation of brain inclusions in mice with targeted deletion of gigaxonin exon 1. J Neurochem (2008) 1.18
Generalized giant axonal neuropathy: a filament-forming disease of neuronal, endothelial, glial, and schwann cells in a patient without kinky hair. Acta Neuropathol (1977) 1.16
Giant axonal neuropathy: clinical and genetic study in six cases. J Neurol Neurosurg Psychiatry (2005) 1.10
Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway. Hum Mol Genet (2009) 1.04
Giant axonal neuropathy. Involvement of peripheral nerve, myenteric plexus and extra-neuronal area. Acta Neuropathol (1977) 1.02
Giant axonal neuropathy. A neuropathological study. Acta Neuropathol (1987) 1.00
Infantile chronic peripheral neuropathy with giant axons. Report of a case. Acta Neuropathol (1977) 0.95
Sensory-motor deficits and neurofilament disorganization in gigaxonin-null mice. Mol Neurodegener (2011) 0.92
Explaining intermediate filament accumulation in giant axonal neuropathy. Rare Dis (2013) 0.91
The structure of people's hair. PeerJ (2014) 0.90
New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. J Neurol Neurosurg Psychiatry (2007) 0.88
Pathology of skeletal muscle and intramuscular nerves in infantile neuroaxonal dystrophy. Acta Neuropathol (1986) 0.85
Genome-wide screen identifies drug-induced regulation of the gene giant axonal neuropathy (Gan) in a mouse model of antiretroviral-induced painful peripheral neuropathy. Biol Res Nurs (2009) 0.83
Organelle pathology in metabolic neuromuscular disease: an overview. Can J Vet Res (1990) 0.83
Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. PLoS One (2015) 0.83
Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin. Hum Mol Genet (2014) 0.81
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer. Hum Genet (2016) 0.80
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test. Acta Neuropathol Commun (2014) 0.80
Giant axonal neuropathy (GAN): an immunohistochemical and ultrastructural study report of a Latin American case. Acta Neuropathol (1990) 0.78
Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts. Mol Biol Cell (2015) 0.78
Giant axonal neuropathy: report on a case with focal fiber loss. Acta Neuropathol (1992) 0.78
The role of gigaxonin in the degradation of the glial-specific intermediate filament protein GFAP. Mol Biol Cell (2016) 0.75
Giant axonal neuropathy: possibly secondary to vitamin b12 malabsorption. Acta Neuropathol (1977) 0.75
Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy. Hum Mol Genet (2016) 0.75
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel. BMC Med Genet (2016) 0.75
Optic Atrophy in End-Stage Giant Axonal Neuropathy: A Case Report. Neuroophthalmology (2013) 0.75
A newly recognized neurodegenerative disorder of horned hereford calves. Can Vet J (1983) 0.75
The inflammatory lesion in idiopathic polyneuritis. Its role in pathogenesis. Medicine (Baltimore) (1969) 4.72
Bcl-2 family proteins are essential for platelet survival. Cell Death Differ (2007) 2.67
Guillain-Barré syndrome in northern China. Relationship to Campylobacter jejuni infection and anti-glycolipid antibodies. Brain (1995) 2.61
Diagnostic considerations in Guillain-Barré syndrome. Ann Neurol (1981) 2.53
Patterns of Guillain-Barre syndrome in children: results from a Mexican population. Neurology (2007) 2.32
The role of Schwann cells in the formation of "onion bulbs" found in chronic neuropathies. J Neuropathol Exp Neurol (1967) 2.13
Glue-sniffing neuropathy. Arch Neurol (1975) 1.99
Oculomotor palsy in diabetes mellitus: a clinico-pathological study. Brain (1970) 1.96
Creutzfeldt-Jakob disease in a young adult with idiopathic hypopituitarism. Possible relation to the administration of cadaveric human growth hormone. N Engl J Med (1985) 1.92
Giant axonal neuropathy--a unique case with segmental neurofilamentous masses. Acta Neuropathol (1972) 1.91
Pathology of the motor-sensory axonal Guillain-Barré syndrome. Ann Neurol (1996) 1.85
Guillain-Barré syndrome and Hodgkin's disease: three cases with immunological studies. Ann Neurol (1977) 1.84
HIV-associated disease of the nervous system: review of nomenclature and proposal for neuropathology-based terminology. Brain Pathol (1991) 1.81
Painful diabetic neuropathy. A morphometric study. Arch Neurol (1976) 1.77
Pure pan-dysautonomia with recovery. Trans Am Neurol Assoc (1969) 1.74
Encephalopathy and peripheral neuropathy following diethylene glycol ingestion. Neurology (2005) 1.73
Multifocal demyelinating neuropathy with persistent conduction block. Neurology (1982) 1.69
Acute motor axonal neuropathy: an antibody-mediated attack on axolemma. Ann Neurol (1996) 1.59
Pure pan-dysautonomia with recovery. Description and discussion of diagnostic criteria. Brain (1975) 1.56
Early nodal changes in the acute motor axonal neuropathy pattern of the Guillain-Barré syndrome. J Neurocytol (1996) 1.51
Sensory perineuritis. Arch Neurol (1972) 1.51
Ischemic mononeuropathy multiplex associated with diabetes mellitus. Arch Neurol (1968) 1.50
The acute sensory neuronopathy syndrome: a distinct clinical entity. Ann Neurol (1980) 1.47
Diabetic neuropathy. Ann Neurol (1984) 1.44
On national needs for neurologists in the United States. Neurology (1986) 1.44
Idiopathic polyneuritis after surgery. Arch Neurol (1968) 1.43
Physiologic-pathologic correlation in Guillain-Barré syndrome in children. Neurology (2000) 1.43
Down-regulation of survivin by antisense oligonucleotides increases apoptosis, inhibits cytokinesis and anchorage-independent growth. Neoplasia (2000) 1.42
Schwann cell proliferation in developing mouse sciatic nerve. A radioautographic study. J Cell Biol (1967) 1.41
Molecular population genetic analysis of Campylobacter jejuni HS:19 associated with Guillain-Barré syndrome and gastroenteritis. J Infect Dis (2001) 1.40
Duration of synthesis phase in neuilemma cells in mouse sciatic nerve during degeneration. Exp Neurol (1970) 1.34
Immune attack on the Schwann cell surface in acute inflammatory demyelinating polyneuropathy. Ann Neurol (1996) 1.34
New antimitotic agents with activity in multi-drug-resistant cell lines and in vivo efficacy in murine tumor models. J Med Chem (2001) 1.32
Cervical internal carotid artery dissecting hemorrhage: diagnosis using MR. Radiology (1986) 1.32
Pathogenesis of lead encephalopathy. Uptake of lead and reaction of brain capillaries. Arch Neurol (1974) 1.31
Ischemic mononeuropathy and mononeuropathy multiplex in diabetes mellitus. N Engl J Med (1968) 1.30
Nonoperative treatment of brain abscesses in selected high-risk patients. J Neurosurg (1980) 1.30
Anti-GD1a antibody is associated with axonal but not demyelinating forms of Guillain-Barré syndrome. Ann Neurol (1999) 1.28
Mitochondrial disorders: analysis of their clinical and imaging characteristics. AJNR Am J Neuroradiol (1993) 1.27
Antiserum-mediated demyelination in vivo: a sequential study using intraneural injection of experimental allergic neuritis serum. Lab Invest (1978) 1.25
Hereditary sensory neuropathy. A clinical and ultrastructural study. J Neurol Sci (1970) 1.22
Multivariate analysis of risk factors for metastasis in retinoblastoma treated by enucleation. Ophthalmology (1987) 1.21
Evaluation of distal symmetric polyneuropathy: the role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review). Muscle Nerve (2009) 1.19
Distal neuropathy in experimental diabetes mellitus. Ann Neurol (1980) 1.15
Survivin does not inhibit caspase-3 activity. Blood (2000) 1.15
Brain stem tumors of childhood and adolescence. Am J Dis Child (1970) 1.15
Campylobacter jejuni lipopolysaccharides in Guillain-Barré syndrome: molecular mimicry and host susceptibility. Neurology (1998) 1.14
Renaut bodies. A forgotten endoneurial structure. J Neuropathol Exp Neurol (1973) 1.14
Pain due to peripheral nerve damage: an hypothesis. Neurology (1984) 1.14
Positive neuropathic sensory symptoms as endpoints in diabetic neuropathy trials. J Neurol Sci (2001) 1.10
Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review). Muscle Nerve (2009) 1.09
Recurrent herpes simplex encephalitis: recovery of virus after Ara-A treatment. Ann Neurol (1983) 1.08
Neurologists in the United States--past, present, and future. Neurology (1986) 1.07
Microbial sampling variables and recreational water quality standards. Am J Public Health (1981) 1.06
Informed consent, a reappraisal of patients' reactions. Calif Med (1973) 1.06
The significance of giant vacuolation of endoneurial fibroblasts. Acta Neuropathol (1971) 1.05
Ataxic hemiparesis from a midbrain mass. Ann Neurol (1981) 1.05
Intra-axonal bacilli in lepromatous leprosy. A light and electron microscopic study. Acta Neuropathol (1974) 1.04
Distal symmetrical polyneuropathy: definition for clinical research. Muscle Nerve (2005) 1.04
Progressive hemifacial atrophy: report of three cases, including one observed over 43 years, and computed tomographic findings. Arch Neurol (1982) 1.04
Comparison of clinical couse and sequential electrophysiological tests in diabetics with symptomatic polyneuropathy and its implications for clinical trials. Diabetes (1981) 1.04
Acute intermittent porphyria. Increased ALA-synthetase activity during an acute attack. Brain (1970) 1.03
Intracranial meningiomas in childhood and adolescence. Neurology (1972) 1.03
Proportion cured and mean log survival time as functions of tumour size. Stat Med (1990) 1.03
Pupil-involving third-nerve palsy and carotid stenosis: rapid recovery following endarterectomy. Ann Neurol (1997) 1.02
In vivo demyelinating activity of sera from patients with Guillain-Barré syndrome. Ann Neurol (1982) 1.02
Acute conduction block associated with experimental antiserum-mediated demyelination of peripheral nerve. Ann Neurol (1982) 1.00
Giant axonal neuropathy. A neuropathological study. Acta Neuropathol (1987) 1.00
Ganglioside GM1 mimicry in Campylobacter strains from sporadic infections in the United States. J Infect Dis (1999) 0.99
Patterns of recovery in the Guillain-Barre syndromes. Neurology (1997) 0.99
Proximal diabetic neuropathy. Ann Neurol (1977) 0.99
Dural sinus thrombosis: study using intermediate field strength MR imaging. Radiology (1986) 0.97
Neuropathologic effects of proton-beam irradiation in man. I. Dose-response relationships after treatment of intracranial neoplasms. Acta Neuropathol (1972) 0.97
Downregulation of Akt1 inhibits anchorage-independent cell growth and induces apoptosis in cancer cells. Neoplasia (2001) 0.97
Discovery of a peptide-based renin inhibitor with oral bioavailability and efficacy. Science (1992) 0.96
EAN as a model for idiopathic polyneuritis. Trans Am Neurol Assoc (1968) 0.96
Schwann cell proliferation in the postnatal mouse: timing and topography. Exp Neurol (1981) 0.96
The myelopathy of pernicious anemia. A neuropathological reappraisal. Acta Neurol Scand (1968) 0.96
Progressive rubella panencephalitis. Arch Neurol (1976) 0.95
Second-generation peptidomimetic inhibitors of protein farnesyltransferase demonstrating improved cellular potency and significant in vivo efficacy. J Med Chem (1999) 0.95
Rapid colchicine competition-binding scintillation proximity assay using biotin-labeled tubulin. Biotechniques (2000) 0.93
Retinoblastoma. The relationship of proliferating cells to blood vessels. Invest Ophthalmol Vis Sci (1990) 0.92
Prognosis of childhood epilepsy--another look. N Engl J Med (1982) 0.92
Experimental allergic neuritis: a radioautographic study. J Neuropathol Exp Neurol (1968) 0.91
Neuropathology of progressive rubella panencephalitis after childhood rubella. Neurology (1982) 0.89
Absence of mutagenic activity of three forms of asbestos in liver epithelial cells. Environ Res (1982) 0.89
Therapeutic trial of plasmapheresis in Refsum disease and in Fabry disease. Birth Defects Orig Artic Ser (1980) 0.89
Physiological studies of the dying-back phenomenon. Muscle stretch afferents in acrylamide neuropathy. Brain (1975) 0.89
Immunocytochemical study of P0 glycoprotein, P1 and P2 basic proteins, and myelin-associated glycoprotein (MAG) in lesions of idiopathic polyneuritis. Neuropathol Appl Neurobiol (1982) 0.88
A-204197, a new tubulin-binding agent with antimitotic activity in tumor cell lines resistant to known microtubule inhibitors. Cancer Res (2001) 0.88
Syndrome if infant botulism. Pediatrics (1977) 0.87
Computerized tomography in subacute necrotizing encephalomyelopathy (Leigh disease). Ann Neurol (1981) 0.87
Deep gray matter involvement in children with acute disseminated encephalomyelitis. AJNR Am J Neuroradiol (1994) 0.86
Progressive rubella panencephalitis: immunovirological studies and results of isoprinosine therapy. Clin Exp Immunol (1979) 0.86