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Results: 1-22 |
Results: 22
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome
Authors: Carrozzo, R Tessa, A Vazquez-Memije, ME Piemonte, F Patrono, C Malandrini, A Dionisi-Vici, C Vilarinho, L Villanova, M Schagger, H Federico, A Bertini, E Santorelli, F
Citation: R. Carrozzo et al., The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome, NEUROLOGY, 56(5), 2001, pp. 687-690
Neuropathological findings associated with retained lead shot pellets in aman surviving two months after a suicide attempt
Authors: Malandrini, A Villanova, M Salvadori, C Gambelli, S Berti, G Di Paolo, M
Citation: A. Malandrini et al., Neuropathological findings associated with retained lead shot pellets in aman surviving two months after a suicide attempt, J FOREN SCI, 46(3), 2001, pp. 717-721
X-linked vacuolated myopathy - TNF-alpha and IFN-gamma expression in muscle fibers with MHC class I on sarcolemma
Authors: Rouger, K Louboutin, JP Villanova, M Cherel, Y Fardeau, M
Citation: K. Rouger et al., X-linked vacuolated myopathy - TNF-alpha and IFN-gamma expression in muscle fibers with MHC class I on sarcolemma, AM J PATH, 158(2), 2001, pp. 355-359
Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1
Authors: Verhoeven, K Villanova, M Rossi, A Malandrini, A De Jonghe, P Timmerman, V
Citation: K. Verhoeven et al., Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1, AM J HU GEN, 69(4), 2001, pp. 889-894
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome
Authors: Villanova, M Mercuri, E Bertini, E Sabatelli, P Morandi, L Mora, M Sewry, C Brockington, M Brown, SC Ferreiro, A Maraldi, NM Toda, T Guicheney, P Merlini, L Muntoni, F
Citation: M. Villanova et al., Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome, NEUROMUSC D, 10(8), 2000, pp. 541-547
A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency
Authors: Santoro, L Carrozzo, R Malandrini, A Piemonte, F Patrono, C Villanova, M Tessa, A Palmeri, S Bertini, E Santorelli, FM
Citation: L. Santoro et al., A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency, NEUROMUSC D, 10(6), 2000, pp. 450-453
X-linked vacuolar myopathies: Two separate loci and refined genetic mapping
Authors: Auranen, M Villanova, M Muntoni, F Fardeau, M Scherer, SW Kalino, H Minassian, BA
Citation: M. Auranen et al., X-linked vacuolar myopathies: Two separate loci and refined genetic mapping, ANN NEUROL, 47(5), 2000, pp. 666-669
Autonomic nervous system and smooth muscle cell involvement in systemic sclerosis: Ultrastructural study of 3 cases
Authors: Malandrini, A Selvi, E Villanova, M Berti, G Sabadini, L Salvadori, C Gambelli, S De Stefano, R Vernillo, R Marolongo, R Guazzi, G
Citation: A. Malandrini et al., Autonomic nervous system and smooth muscle cell involvement in systemic sclerosis: Ultrastructural study of 3 cases, J RHEUMATOL, 27(5), 2000, pp. 1203-1206
Image analysis quantification of substance P immunoreactivity in the trapezius muscle of patients with fibromyalgia and myofascial pain syndrome
Authors: De Stefano, R Selvi, E Villanova, M Frati, E Manganelli, S Franceschini, E Biasi, G Marcolongo, R
Citation: R. De Stefano et al., Image analysis quantification of substance P immunoreactivity in the trapezius muscle of patients with fibromyalgia and myofascial pain syndrome, J RHEUMATOL, 27(12), 2000, pp. 2906-2910
Chronic diarrhea associated with the A3243G mtDNA mutation
Authors: Santorelli, FM Villanova, M Malandrini, A Grieco, GS Palmeri, S Merlini, L Casali, C
Citation: Fm. Santorelli et al., Chronic diarrhea associated with the A3243G mtDNA mutation, NEUROLOGY, 54(1), 2000, pp. 266-267
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
Type I sialidosis: A clinical, biochemical and neuroradiological study
Authors: Palmeri, S Villanova, M Malandrini, A van Diggelen, OP Huijmans, JGM Ceuterick, C Rufa, A DeFalco, D Ciacci, G Martin, JJ Guazzi, G
Citation: S. Palmeri et al., Type I sialidosis: A clinical, biochemical and neuroradiological study, EUR NEUROL, 43(2), 2000, pp. 88-94
Unusual laminin alpha 2 processing in myoblasts from a patient with a novel variant of congenital muscular dystrophy
Authors: Lattanzi, G Muntoni, F Sabatelli, P Squarzoni, S Maraldi, NM Cenni, V Villanova, M Columbaro, M Merlini, L Marmiroli, S
Citation: G. Lattanzi et al., Unusual laminin alpha 2 processing in myoblasts from a patient with a novel variant of congenital muscular dystrophy, BIOC BIOP R, 277(3), 2000, pp. 639-642
Hepatitis C virus infection and myositis: a polymerase chain reaction study
Authors: Villanova, M Caudai, C Sabatelli, P Toti, P Malandrini, A Luzi, P Maraldi, NM Valensin, PE Merlini, L
Citation: M. Villanova et al., Hepatitis C virus infection and myositis: a polymerase chain reaction study, ACT NEUROP, 99(3), 2000, pp. 271-276
Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy
Authors: Merlini, L Villanova, M Sabatelli, P Malandrini, A Maraldi, NM
Citation: L. Merlini et al., Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy, NEUROMUSC D, 9(5), 1999, pp. 326-329
Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy
Authors: Ognibene, A Sabatelli, P Petrini, S Squarzoni, S Riccio, M Santi, S Villanova, M Palmeri, S Merlini, L Maraldi, NM
Citation: A. Ognibene et al., Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy, MUSCLE NERV, 22(7), 1999, pp. 864-869
Mitochondrial myopathy mimicking fibromyalgia syndrome
Authors: Villanova, M Selvi, E Malandrini, A Casali, C Santorelli, FM De Stefano, R Marcolongo, R
Citation: M. Villanova et al., Mitochondrial myopathy mimicking fibromyalgia syndrome, MUSCLE NERV, 22(2), 1999, pp. 289-291
Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeralmuscular dystrophy
Authors: Vitelli, F Villanova, M Malandrini, A Bruttini, M Piccini, M Merlini, L Guazzi, G Renieri, A
Citation: F. Vitelli et al., Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeralmuscular dystrophy, MUSCLE NERV, 22(10), 1999, pp. 1437-1441
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
Ultrastructural study of enteric ganglia in three patients with Rett syndrome
Authors: Malandrini, A Hayek, G Villanova, M Aucone, AM Berti, G Vernillo, R Zappella, M Guazzi, GC
Citation: A. Malandrini et al., Ultrastructural study of enteric ganglia in three patients with Rett syndrome, BRAIN DEVEL, 20(8), 1998, pp. 586-588
Risultati: 1-22 |