Dotti MT - Search Results

1

Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion.

Gaetani L, Mignarri A, Di Gregorio M, Sarchielli P, Malandrini A, Cardaioli E, Calabresi P, Dotti MT, Di Filippo M. Gaetani L, et al. Among authors: dotti mt. J Neurol. 2016 Jul;263(7):1449-51. doi: 10.1007/s00415-016-8120-5. Epub 2016 Apr 25. J Neurol. 2016. PMID: 27113600 No abstract available.

2

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: dotti mt. Eur Neurol. 1990;30(3):123-7. doi: 10.1159/000117327. Eur Neurol. 1990. PMID: 2162773

3

Primary antiphospholipid syndrome: two case reports, one with histological examination of skin, peripheral nerve and muscle.

Macucci M, Dotti MT, Battistini S, De Stefano N, Vecchione V, Orefice G, Malandrini A, Federico A. Macucci M, et al. Among authors: dotti mt. Acta Neurol (Napoli). 1994 Jun;16(3):87-96. Acta Neurol (Napoli). 1994. PMID: 7992667

4

Association of myopathy with multiple exostoses and mental retardation: a case report.

De Stefano N, Dotti MT, Malandrini A, Federico A. De Stefano N, et al. Among authors: dotti mt. Brain Dev. 1994 Mar-Apr;16(2):136-8. doi: 10.1016/0387-7604(94)90050-7. Brain Dev. 1994. PMID: 8048702

5

Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study.

Dotti MT, Manneschi L, Malandrini A, De Stefano N, Caznerale F, Federico A. Dotti MT, et al. Brain Dev. 1993 Mar-Apr;15(2):103-6. doi: 10.1016/0387-7604(93)90045-a. Brain Dev. 1993. PMID: 8214327

6

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. Brain Dev. 1993 Jul-Aug;15(4):291-4. doi: 10.1016/0387-7604(93)90026-5. Brain Dev. 1993. PMID: 8250152

7

Sensory-motor hereditary neuropathy with early onset. A case report.

Malandrini A, De Stefano N, Dotti MT, Vecchione V, Federico A. Malandrini A, et al. Among authors: dotti mt. Acta Neurol (Napoli). 1993 Apr;15(2):81-6. Acta Neurol (Napoli). 1993. PMID: 8328327

8

Optic atrophy in Marinesco-Sjögren syndrome: an additional ocular feature. Report of three cases in two families.

Dotti MT, Bardelli AM, De Stefano N, Federico A, Malandrini A, Vanni M, Guazzi GC. Dotti MT, et al. Ophthalmic Paediatr Genet. 1993 Mar;14(1):5-7. doi: 10.3109/13816819309087616. Ophthalmic Paediatr Genet. 1993. PMID: 8345957

9

The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.

Fabrizi GM, Cardaioli E, Grieco GS, Cavallaro T, Malandrini A, Manneschi L, Dotti MT, Federico A, Guazzi G. Fabrizi GM, et al. Among authors: dotti mt. J Neurol Neurosurg Psychiatry. 1996 Jul;61(1):47-51. doi: 10.1136/jnnp.61.1.47. J Neurol Neurosurg Psychiatry. 1996. PMID: 8676159 Free PMC article.

10

Disappearance of skin lipofuscin storage and marked clinical improvement in adult onset coeliac disease and severe vitamin E deficiency after chronic vitamin E megatherapy.

Battisti C, Dotti MT, Formichi P, Bonuccelli U, Malandrini A, Carrai M, Tripodi SA, Federico A. Battisti C, et al. Among authors: dotti mt. J Submicrosc Cytol Pathol. 1996 Jul;28(3):339-44. J Submicrosc Cytol Pathol. 1996. PMID: 8765578

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