Rufa A - Search Results

1

Leber hereditary optic neuropathy in 2 of 4 siblings with 11778 mtDNA mutation: clinical variability or effect of toxic environmental exposure?

Rufa A, Dotti MT, Cardaioli E, Da Pozzo P, Federico A. Rufa A, et al. Eur Neurol. 2005;53(1):32-4. doi: 10.1159/000083927. Epub 2005 Feb 10. Eur Neurol. 2005. PMID: 15711068

2

Spinocerebellar ataxia type 2 (SCA2) associated with retinal pigmentary degeneration.

Rufa A, Dotti MT, Galli L, Orrico A, Sicurelli F, Federico A. Rufa A, et al. Eur Neurol. 2002;47(2):128-9. doi: 10.1159/000047968. Eur Neurol. 2002. PMID: 11844906 No abstract available.

3

The Primrose syndrome with progressive neurological involvement and cerebral calcification.

Battisti C, Dotti MT, Cerase A, Rufa A, Sicurelli F, Scarpini C, Federico A. Battisti C, et al. Among authors: rufa a. J Neurol. 2002 Oct;249(10):1466-8. doi: 10.1007/s00415-002-0850-x. J Neurol. 2002. PMID: 12532939 No abstract available.

4

Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Rufa A, De Stefano N, Dotti MT, Bianchi S, Sicurelli F, Stromillo ML, D'Aniello B, Federico A. Rufa A, et al. Arch Neurol. 2004 Apr;61(4):577-80. doi: 10.1001/archneur.61.4.577. Arch Neurol. 2004. PMID: 15096408

5

Hemodynamic evaluation of the optic nerve head in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Rufa A, Dotti MT, Frezzotti P, De Stefano N, Caporossi A, Federico A. Rufa A, et al. Arch Neurol. 2004 Aug;61(8):1230-3. doi: 10.1001/archneur.61.8.1230. Arch Neurol. 2004. PMID: 15313839

6

Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Rufa A, Dotti MT, Franchi M, Stromillo ML, Cevenini G, Bianchi S, De Stefano N, Federico A. Rufa A, et al. Stroke. 2005 Dec;36(12):2554-8. doi: 10.1161/01.STR.0000190832.17620.25. Epub 2005 Nov 10. Stroke. 2005. PMID: 16282544 Clinical Trial.

7

A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy.

Cardaioli E, Gallus GN, Da Pozzo P, Rufa A, Franceschini R, Motolese E, Caporossi A, Dotti MT, Federico A. Cardaioli E, et al. Among authors: rufa a. J Neurol. 2006 May;253(5):672-3. doi: 10.1007/s00415-005-0057-z. Epub 2005 Dec 12. J Neurol. 2006. PMID: 16331355 No abstract available.

8

Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Rufa A, Guideri F, Acampa M, Cevenini G, Bianchi S, De Stefano N, Stromillo ML, Federico A, Dotti MT. Rufa A, et al. Stroke. 2007 Feb;38(2):276-80. doi: 10.1161/01.STR.0000254530.38417.07. Epub 2007 Jan 11. Stroke. 2007. PMID: 17218610

9

Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telithromycin consumption.

Cardaioli E, Da Pozzo P, Gallus GN, Franceschini R, Rufa A, Dotti MT, Caporossi A, Federico A. Cardaioli E, et al. Among authors: rufa a. J Neurol. 2007 Feb;254(2):255-6. doi: 10.1007/s00415-006-0351-4. Epub 2007 Mar 2. J Neurol. 2007. PMID: 17334960 No abstract available.

10

A case of ovarioleukodystrophy without eIF2B mutations.

Gaudiano C, Di Perri C, Scali O, Rufa A, Battisti C, De Stefano N, Federico A. Gaudiano C, et al. Among authors: rufa a. J Neurol Sci. 2008 May 15;268(1-2):183-6. doi: 10.1016/j.jns.2007.10.027. Epub 2007 Dec 3. J Neurol Sci. 2008. PMID: 18061208

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