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Items: 8

1.

Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature.

Leuzzi V, D'Agnano D, Menotta M, Caputi C, Chessa L, Magnani M.

Neurol Genet. 2018 Mar 27;4(2):e228. doi: 10.1212/NXG.0000000000000228. eCollection 2018 Apr.

2.

In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia.

Menotta M, Biagiotti S, Orazi S, Rossi L, Chessa L, Leuzzi V, D'Agnano D, Plebani A, Soresina A, Magnani M.

Mol Cell Biochem. 2018 Jan;438(1-2):153-166. doi: 10.1007/s11010-017-3122-x. Epub 2017 Jul 25.

PMID:
28744812
3.

ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T.

Menotta M, Biagiotti S, Spapperi C, Orazi S, Rossi L, Chessa L, Leuzzi V, D'Agnano D, Soresina A, Micheli R, Magnani M.

Orphanet J Rare Dis. 2017 Jul 5;12(1):126. doi: 10.1186/s13023-017-0669-2.

4.

Development of global rating instruments for pediatric patients with ataxia telangiectasia.

Nissenkorn A, Borgohain R, Micheli R, Leuzzi V, Hegde AU, Mridula KR, Molinaro A, D'Agnano D, Yareeda S, Ben-Zeev B.

Eur J Paediatr Neurol. 2016 Jan;20(1):140-6. doi: 10.1016/j.ejpn.2015.09.002. Epub 2015 Sep 25.

PMID:
26493850
5.

Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia.

Leuzzi V, Micheli R, D'Agnano D, Molinaro A, Venturi T, Plebani A, Soresina A, Marini M, Ferremi Leali P, Quinti I, Pietrogrande MC, Finocchi A, Fazzi E, Chessa L, Magnani M.

Neurol Neuroimmunol Neuroinflamm. 2015 Apr 9;2(3):e98. doi: 10.1212/NXI.0000000000000098. eCollection 2015 Jun.

6.

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.

Ng J, Zhen J, Meyer E, Erreger K, Li Y, Kakar N, Ahmad J, Thiele H, Kubisch C, Rider NL, Morton DH, Strauss KA, Puffenberger EG, D'Agnano D, Anikster Y, Carducci C, Hyland K, Rotstein M, Leuzzi V, Borck G, Reith ME, Kurian MA.

Brain. 2014 Apr;137(Pt 4):1107-19. doi: 10.1093/brain/awu022. Epub 2014 Mar 10.

7.

Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial.

Chessa L, Leuzzi V, Plebani A, Soresina A, Micheli R, D'Agnano D, Venturi T, Molinaro A, Fazzi E, Marini M, Ferremi Leali P, Quinti I, Cavaliere FM, Girelli G, Pietrogrande MC, Finocchi A, Tabolli S, Abeni D, Magnani M.

Orphanet J Rare Dis. 2014 Jan 9;9:5. doi: 10.1186/1750-1172-9-5.

8.

Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease.

Leuzzi V, Carducci C, Chiarotti F, D'Agnano D, Giannini MT, Antonozzi I, Carducci C.

JIMD Rep. 2013;7:67-75. doi: 10.1007/8904_2012_144. Epub 2012 Apr 18.

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