Fabrizi GM - Search Results

1

Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family.

Casali C, Fabrizi GM, Santorelli FM, Colazza G, Villanova M, Dotti MT, Cavallaro T, Cardaioli E, Battisti C, Manneschi L, DiGennaro GC, Fortini D, Spadaro M, Morocutti C, Federico A. Casali C, et al. Among authors: fabrizi gm. Neurology. 1999 Mar 23;52(5):1103-4. doi: 10.1212/wnl.52.5.1103. Neurology. 1999. PMID: 10102446 No abstract available.

2

Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathy.

Siciliano G, Rossi B, Angelini C, Martinuzzi A, Carrozzo R, Bevilacqua G, Viacava P, Federico A, Fabrizi GM, Muratorio A. Siciliano G, et al. Among authors: fabrizi gm. Neuromuscul Disord. 1992;2(5-6):397-404. doi: 10.1016/s0960-8966(06)80011-8. Neuromuscul Disord. 1992. PMID: 1300188

3

The clinical aspects of adult hexosaminidase deficiencies.

Federico A, Palmeri S, Malandrini A, Fabrizi G, Mondelli M, Guazzi GC. Federico A, et al. Dev Neurosci. 1991;13(4-5):280-7. doi: 10.1159/000112174. Dev Neurosci. 1991. PMID: 1840098 Review.

4

Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy.

Federico A, Dotti MT, Fabrizi GM, Palmeri S, Massimo L, Robinson BH, Malandrini A, Guazzi GC. Federico A, et al. Among authors: fabrizi gm. Eur Neurol. 1990;30(3):123-7. doi: 10.1159/000117327. Eur Neurol. 1990. PMID: 2162773

5

Neurocutaneous syndromes with pigmentary abnormalities and central nervous system involvement. II. Two cases with atypical incontinentia pigmenti.

Federico A, Fabrizi GM, Dotti MT, Palmeri S, Aguglia U, Miracco C, Guazzi GC. Federico A, et al. Among authors: fabrizi gm. Acta Neurol (Napoli). 1990 Aug;12(4):264-72. Acta Neurol (Napoli). 1990. PMID: 2251951

6

Mitochondrial changes in steroid myopathy with respiratory failure and rapid fatal course: report of a case.

Malandrini A, Scarpini C, Fabrizi GM, Manneschi L, Rosi R, Parrotta E, Guazzi GC. Malandrini A, et al. Among authors: fabrizi gm. Eur Neurol. 1995;35(3):182-3. doi: 10.1159/000117123. Eur Neurol. 1995. PMID: 7628504 No abstract available.

7

Mental retardation with marfanoid syndrome: presentation of a family with different phenotypical expression.

Dotti MT, Malandrini A, Bartolini S, Fabrizi GM, Federico A. Dotti MT, et al. Among authors: fabrizi gm. Brain Dev. 1993 Jul-Aug;15(4):291-4. doi: 10.1016/0387-7604(93)90026-5. Brain Dev. 1993. PMID: 8250152

8

Choreo-acanthocytosis like phenotype without acanthocytes: clinicopathological case report. A contribution to the knowledge of the functional pathology of the caudate nucleus.

Malandrini A, Fabrizi GM, Palmeri S, Ciacci G, Salvadori C, Berti G, Bucalossi A, Federico A, Guazzi GC. Malandrini A, et al. Among authors: fabrizi gm. Acta Neuropathol. 1993;86(6):651-8. doi: 10.1007/BF00294306. Acta Neuropathol. 1993. PMID: 8310821

9

Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy.

Fabrizi GM, Tiranti V, Mariotti C, Guazzi GC, Malandrini A, DiDonato S, Zeviani M. Fabrizi GM, et al. J Neurol. 1995 Aug;242(8):490-6. doi: 10.1007/BF00867418. J Neurol. 1995. PMID: 8530975

10

Ultrastructure and immunoreactivity of dystrophic axons indicate a different pathogenesis of Hallervorden-Spatz disease and infantile neuroaxonal dystrophy.

Malandrini A, Cavallaro T, Fabrizi GM, Berti G, Salvestroni R, Salvadori C, Guazzi GC. Malandrini A, et al. Among authors: fabrizi gm. Virchows Arch. 1995;427(4):415-21. doi: 10.1007/BF00199391. Virchows Arch. 1995. PMID: 8548127

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