Search Results - "Guazzi, G.C."

Intracellular detection of laminin α2 chain in skin by electron microscopy immunocytochemistry: Comparison between normal and laminin α2 chain deficient subjects by Squarzoni, S., Villanova, M., Sabatelli, P., Malandrini, A., Toti, P., Pini, A., Merlini, L., Guazzi, G.C., Maraldi, N.M.

“…The aim of this study is to localize the α 2 laminin chain in normal human skin. The methods used were immuno-gold cytochemistry on cryo-ultramicrotomy…”
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A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia by BATTISTINI, S, STENIRRI, S, CARRERA, P, PIATTI, M, GELFI, C, RIGHETTI, P. G, ROCCHI, R, GIANNINI, F, BATTISTINI, N, GUAZZI, G. C, FERRARI, M

“…To search for mutations in the calcium channel gene CACNA1A and to study the genotype-phenotype correlation in a family with a severe familial hemiplegic…”
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Early synthesis and correlation of serum anti-thyroid antibodies with clinical parameters in multiple sclerosis by Annunziata, P, Lore’, F, Venturini, E, Morana, P, Guarino, E, Borghi, S, Guazzi, G.C

“…A high frequency of anti-thyroid antibodies has been demonstrated in multiple sclerosis (MS), but there is a lack of data on the possible association of…”
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Interleukin-6 levels in the cerebrospinal fluid and serum of patients with Guillain-Barré syndrome and chronic inflammatory demyelinating polyradiculoneuropathy by Maimone, D, Annunziata, P, Simone, I L, Livrea, P, Guazzi, G C

“…Clinical and experimental findings suggest that humoral factors, such as anti-peripheral nerve antibodies and cytokines, may be implicated in the…”
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Ultrastructure and immunoreactivity of dystrophic axons indicate a different pathogenesis of Hallervorden-Spatz disease and infantile neuroaxonal dystrophy by MALANDRINI, A, CAVALLARO, T, FABRIZI, G. M, BERTI, G, SALVESTRONI, R, SALVADORI, C, GUAZZI, G. C

“…An immunohistochemical and ultrastructural analysis of dystrophic axons (DAs) in the brain and peripheral nerve of a patient with familial infantile…”
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Serum anti-brain endothelium antibodies and cognitive assessment in patients with Binswanger's encephalopathy by Annunziata, P., Cioni, C., Moschini, F., Riccucci, A., Guazzi, G.C.

“…The pathogenic mechanism underlying the vascular changes in Binswanger's encephalopathy (BE) is unknown. To test whether alterations of the humoral immunity…”
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Cloning and sequence analysis of the human liver rhodanese: comparison with the bovine and chicken enzymes by Pallini, R, Guazzi, G C, Cannella, C, Cacace, M G

“…The cDNA for the human rhodanese (thiosulfate: cyanide sulfurtransferase, EC 2.8.1.1), a nuclearly encoded protein of the mitochondrial matrix, was isolated…”
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The clinical aspects of adult hexosaminidase deficiencies by Federico, A, Palmeri, S, Malandrini, A, Fabrizi, G, Mondelli, M, Guazzi, G C

“…The authors describe the clinical phenotypes of hexosaminidase deficiencies (GM2 gangliosidosis). The symptoms, differently combined, include cerebellar…”
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Giant axonal neuropathy in 2 siblings: a generalized disorder of intermediate filaments by Guazzi, G C, Malandrini, A, Gerli, R, Federico, A

“…The authors report the clinical details and progress over 15 years of 2 siblings with giant axonal neuropathy with multisystem involvement. Changes in…”
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Mitochondrial changes in steroid myopathy with respiratory failure and rapid fatal course: report of a case by Malandrini, A, Scarpini, C, Fabrizi, G M, Manneschi, L, Rosi, R, Parrotta, E, Guazzi, G C

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Cherry-red spot myoclonus syndrome (type I sialidosis) by Federico, A, Battistini, S, Ciacci, G, de Stefano, N, Gatti, R, Durand, P, Guazzi, G C

“…The authors report the sequence of the clinical symptoms in type I sialidosis or cherry-red spot myoclonus syndrome, derived from the cases personally observed…”
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Electrophysiological study of peripheral sensory fibers in spinal motoneuron diases by Mondelli, M., Rossi, A., Della Porta, P., Guazzi, G.C.

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Impairment of human brain development: glycoconjugate and lipid changes in congenital athyroidism by Annunziata, P, Federico, A, D'Amore, I, Corona, R M, Guazzi, G C

“…The brain glycoconjugates, glycosidases and lipids have been studied in a case of human congenital athyroidism never treated with hormonal replacement…”
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Macular cherry-red spot and myoclonus syndrome. Juvenile form of sialidosis by Federico, A, Cecio, A, Battini, G A, Michalski, J C, Strecker, G, Guazzi, G C

“…Macular cherry-red spot, myoclonus and progressive mental deterioration are described in a man of 16 years. Morphological examination of the liver, bone marrow…”
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Fluorescein retinal angiography in the early diagnosis of optic disc edema by D'Ettorre, M, Nardini, M, Menchini, U, Motolese, E, Palmeri, S, Brancato, R, Guazzi, G C

“…33 patients hospitalized for suspected intracranial space-occupying lesion with negative or dubious ophthalmoscopic findings underwent fluorescein retinal…”
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Pseudo-tumoural presentation of certain cases of subacute sclerosing leucoencephalitis by Glowacki, J, Guazzi, G C, Van Bogaert, L

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Sudanophilic leucodystrophy with meningeal angiomatosis in two brothers: infantile form of diffuse sclerosis with meningeal angiomatosis by Hooft, C, Deloore, G, Van Bogaert, L, Guazzi, G C

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Infantile form of meningeal angiomatosis with sudanophilic leucodystrophy associated with complex abiotrophies. Study of a second family by Bruens, J H, Guazzi, G C, Martin, J J

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Wolman's disease by Guazzi, G C, Martin, J J, Philippart, M, Roels, H, van der Eecken, H, Vrints, L, Delbeke, M J, Hooft, C

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Werdnig-Hoffmann-Wohlfart-Kugelberg-Welander disease. Nosological unity and clinical variability in intrafamilial cases by Ghetti, B, Amati, A, Turra, M V, Pacini, A, Del Vecchio, M, Guazzi, G C

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