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Results: 1-20 |
Results: 20
McLeod neuroacanthocytosis: Genotype and phenotype
Authors: Danek, A Rubio, JP Rampoldi, L Ho, MF Dobson-Stone, C Tison, F Symmans, WA Oechsner, M Kalckreuth, W Watt, JM Corbett, AJ Hamdalla, HHM Marshall, AG Sutton, I Dotti, MT Malandrini, A Walker, RH Daniels, G Monaco, AP
Citation: A. Danek et al., McLeod neuroacanthocytosis: Genotype and phenotype, ANN NEUROL, 50(6), 2001, pp. 755-764
Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study
Authors: De Stefano, N Balestri, P Dotti, MT Grosso, S Mortilla, M Morgese, G Federico, A
Citation: N. De Stefano et al., Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study, J NEUROL, 248(5), 2001, pp. 403-409
Cerebrotendinous xanthomatosis: Heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings
Authors: Dotti, MT Rufa, A Federico, A
Citation: Mt. Dotti et al., Cerebrotendinous xanthomatosis: Heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings, J INH MET D, 24(7), 2001, pp. 696-706
Cerebrotendinous xanthomatosis
Authors: Federico, A Dotti, MT
Citation: A. Federico et Mt. Dotti, Cerebrotendinous xanthomatosis, NEUROLOGY, 57(9), 2001, pp. 1743-1743
Cerebrotendinous xanthomatosis: 11-year treatment with chenodeoxycholic acid in five patients. An electrophysiological study
Authors: Mondelli, M Sicurelli, F Scarpini, C Dotti, MT Federico, A
Citation: M. Mondelli et al., Cerebrotendinous xanthomatosis: 11-year treatment with chenodeoxycholic acid in five patients. An electrophysiological study, J NEUR SCI, 190(1-2), 2001, pp. 29-33
Magnetic resonance imaging and spectroscopic changes in brains of patientswith cerebrotendinous xanthomatosis
Authors: De Stefano, N Dotti, MT Mortilla, M Federico, A
Citation: N. De Stefano et al., Magnetic resonance imaging and spectroscopic changes in brains of patientswith cerebrotendinous xanthomatosis, BRAIN, 124, 2001, pp. 121-131
Proton MR spectroscopy to assess axonal damage in multiple sclerosis and other white matter disorders
Authors: De Stefano, N Narayanan, S Matthews, PM Mortilla, M Dotti, MT Federico, A Arnold, DL
Citation: N. De Stefano et al., Proton MR spectroscopy to assess axonal damage in multiple sclerosis and other white matter disorders, J NEUROVIRO, 6, 2000, pp. S121-S129
McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene
Authors: Dotti, MT Battisti, C Malandrini, A Federico, A Rubio, JP Circiarello, G Monaco, AP
Citation: Mt. Dotti et al., McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene, MOVEMENT D, 15(6), 2000, pp. 1282-1284
Cerebrotendinous xanthomatosis with predominant Parkinsonian syndrome: Further confirmation of the clinical heterogeneity
Authors: Dotti, MT Federico, A Garuti, R Calandra, S
Citation: Mt. Dotti et al., Cerebrotendinous xanthomatosis with predominant Parkinsonian syndrome: Further confirmation of the clinical heterogeneity, MOVEMENT D, 15(5), 2000, pp. 1017-1019
Evidence of diffuse brain pathology and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease
Authors: De Stefano, N Dotti, MT Mortilla, M Pappagallo, E Luzi, P Rafi, MA Formichi, P Inzitari, D Wenger, DA Federico, A
Citation: N. De Stefano et al., Evidence of diffuse brain pathology and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease, J NEUROL, 247(3), 2000, pp. 226-228
Heteroplasmy of the A3243G transition of mitochondrial tRNA(Leu(UUR)) in aMELAS case and in a 25-week-old miscarried fetus
Authors: Cardaioli, E Fabrizi, GM Grieco, GS Dotti, MT Federico, A
Citation: E. Cardaioli et al., Heteroplasmy of the A3243G transition of mitochondrial tRNA(Leu(UUR)) in aMELAS case and in a 25-week-old miscarried fetus, J NEUROL, 247(11), 2000, pp. 885-887
MECP2 mutation in male patients with non-specific X-linked mental retardation
Authors: Orrico, A Lam, CW Galli, L Dotti, MT Hayek, G Tong, SF Poon, PMK Zappella, M Federico, A Sorrentino, V
Citation: A. Orrico et al., MECP2 mutation in male patients with non-specific X-linked mental retardation, FEBS LETTER, 481(3), 2000, pp. 285-288
Neurological involvement in Werner's syndrome: Clinical and biopsy study of a familial case
Authors: Malandrini, A Dotti, MT Villanova, M Battisti, C Federico, A
Citation: A. Malandrini et al., Neurological involvement in Werner's syndrome: Clinical and biopsy study of a familial case, EUR NEUROL, 44(3), 2000, pp. 187-189
Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835
Authors: Cardaioli, E Dotti, MT Hayek, G Zappella, M Federico, A
Citation: E. Cardaioli et al., Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835, J SUBMIC CY, 31(2), 1999, pp. 301-304
Neurological involvement and quadricuspid aortic valve in a patient with Ehlers-Danlos syndrome
Authors: Dotti, MT De Stefano, N Mondillo, S Agricola, E Federico, A
Citation: Mt. Dotti et al., Neurological involvement and quadricuspid aortic valve in a patient with Ehlers-Danlos syndrome, J NEUROL, 246(7), 1999, pp. 612-613
Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency
Authors: Battisti, C Loudianos, G Rufa, A Dotti, MT Sangiorgi, S Dessi, V Lovicu, M Pirastu, M Federico, A
Citation: C. Battisti et al., Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency, AM J MED G, 85(2), 1999, pp. 175-178
Association of trisomy 9p and band heterotopia
Authors: Federico, A Tomasetti, P Zollino, M Diomedi, M Dotti, MT De Stefano, N Gualdi, GF Neri, G Gigli, GL
Citation: A. Federico et al., Association of trisomy 9p and band heterotopia, NEUROLOGY, 53(2), 1999, pp. 430-432
Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family
Authors: 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
Citation: C. Casali et al., Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family, NEUROLOGY, 52(5), 1999, pp. 1103-1104
Acute inflammatory neuropathy in Charcot-Marie-Tooth disease
Authors: Malandrini, A Villanova, M Dotti, MT Federico, A
Citation: A. Malandrini et al., Acute inflammatory neuropathy in Charcot-Marie-Tooth disease, NEUROLOGY, 52(4), 1999, pp. 859-861
Detection of beta-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjogren)
Authors: Villanova, M Ceuterick, C Dotti, MT Santorelli, FM Casali, C Malandrini, A De Stefano, N Lubke, U Martin, JJ Guazzi, GC Federico, A
Citation: M. Villanova et al., Detection of beta-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjogren), ACT NEUROP, 98(1), 1999, pp. 78-84
Risultati: 1-20 |