Ciafaloni E - Search Results

1

The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke.

Mosewich RK, Donat JR, DiMauro S, Ciafaloni E, Shanske S, Erasmus M, George D. Mosewich RK, et al. Among authors: ciafaloni e. Arch Neurol. 1993 Mar;50(3):275-8. doi: 10.1001/archneur.1993.00540030041012. Arch Neurol. 1993. PMID: 8442706

2

Correlation between clinical and molecular features in two MELAS families.

Martinuzzi A, Bartolomei L, Carrozzo R, Mostacciuolo M, Carbonin C, Toso V, Ciafaloni E, Shanske S, DiMauro S, Angelini C. Martinuzzi A, et al. Among authors: ciafaloni e. J Neurol Sci. 1992 Dec;113(2):222-9. doi: 10.1016/0022-510x(92)90250-o. J Neurol Sci. 1992. PMID: 1487758

3

Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.

Zupanc ML, Moraes CT, Shanske S, Langman CB, Ciafaloni E, DiMauro S. Zupanc ML, et al. Among authors: ciafaloni e. Ann Neurol. 1991 Jun;29(6):680-3. doi: 10.1002/ana.410290619. Ann Neurol. 1991. PMID: 1892371

4

Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.

Ciafaloni E, Ricci E, Servidei S, Shanske S, Silvestri G, Manfredi G, Schon EA, DiMauro S. Ciafaloni E, et al. Neurology. 1991 Oct;41(10):1663-4. doi: 10.1212/wnl.41.10.1663. Neurology. 1991. PMID: 1922812 No abstract available.

5

Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").

Silvestri G, Ciafaloni E, Santorelli FM, Shanske S, Servidei S, Graf WD, Sumi M, DiMauro S. Silvestri G, et al. Among authors: ciafaloni e. Neurology. 1993 Jun;43(6):1200-6. doi: 10.1212/wnl.43.6.1200. Neurology. 1993. PMID: 8170567

6

Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA.

Suomalainen A, Ciafaloni E, Koga Y, Peltonen L, DiMauro S, Schon EA. Suomalainen A, et al. Among authors: ciafaloni e. J Neurol Sci. 1992 Sep;111(2):222-6. doi: 10.1016/0022-510x(92)90074-u. J Neurol Sci. 1992. PMID: 1431990

7

MELAS: clinical features, biochemistry, and molecular genetics.

Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, et al. Ciafaloni E, et al. Ann Neurol. 1992 Apr;31(4):391-8. doi: 10.1002/ana.410310408. Ann Neurol. 1992. PMID: 1586140

8

Maternally inherited Leigh syndrome.

Ciafaloni E, Santorelli FM, Shanske S, Deonna T, Roulet E, Janzer C, Pescia G, DiMauro S. Ciafaloni E, et al. J Pediatr. 1993 Mar;122(3):419-22. doi: 10.1016/s0022-3476(05)83431-6. J Pediatr. 1993. PMID: 8095070

9

Evidence in focus: Nusinersen use in spinal muscular atrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.

Michelson D, Ciafaloni E, Ashwal S, Lewis E, Narayanaswami P, Oskoui M, Armstrong MJ. Michelson D, et al. Among authors: ciafaloni e. Neurology. 2018 Nov 13;91(20):923-933. doi: 10.1212/WNL.0000000000006502. Epub 2018 Oct 12. Neurology. 2018. PMID: 30315070

10

Retrospective analysis of the use of cyclosporine in myasthenia gravis.

Ciafaloni E, Nikhar NK, Massey JM, Sanders DB. Ciafaloni E, et al. Neurology. 2000 Aug 8;55(3):448-50. doi: 10.1212/wnl.55.3.448. Neurology. 2000. PMID: 10932288

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