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Items: 7

1.

A case of ovarioleukodystrophy without eIF2B mutations.

Gaudiano C, Di Perri C, Scali O, Rufa A, Battisti C, De Stefano N, Federico A.

J Neurol Sci. 2008 May 15;268(1-2):183-6. Epub 2007 Dec 3.

PMID:
18061208
2.

The spectrum of mutations for the diagnosis of vanishing white matter disease.

Scali O, Di Perri C, Federico A.

Neurol Sci. 2006 Sep;27(4):271-7. Review.

PMID:
16998732
3.

Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation.

Federico A, Scali O, Stromillo ML, Di Perri C, Bianchi S, Sicurelli F, De Stefano N, Malandrini A, Dotti MT.

Neurology. 2006 Jul 25;67(2):353-5.

PMID:
16864840
4.

Gene symbol: Notch3. Disease: CADASIL.

Bianchi S, Scali O, Dotti MT, Pantoni L, Parnetti L, Inzitari D, Federico A.

Hum Genet. 2005 Dec;118(3-4):546. No abstract available.

PMID:
16521299
5.

Gene symbol: NOTCH3. Disease: CADASIL.

Bianchi S, Scali O, Dotti MT, Pantoni L, Parnetti L, Inzitari D, Federico A.

Hum Genet. 2005 Dec;118(3-4):535. No abstract available.

PMID:
16521242
6.

Gene symbol: NOTCH3. Disease: CADASIL.

Bianchi S, Scali O, Dotti MT, Pantoni L, Parnetti L, Inzitari D, Federico A.

Hum Genet. 2005 Dec;118(3-4):534. No abstract available.

PMID:
16521241
7.

The spectrum of Notch3 mutations in 28 Italian CADASIL families.

Dotti MT, Federico A, Mazzei R, Bianchi S, Scali O, Conforti FL, Sprovieri T, Guidetti D, Aguglia U, Consoli D, Pantoni L, Sarti C, Inzitari D, Quattrone A.

J Neurol Neurosurg Psychiatry. 2005 May;76(5):736-8.

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