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Clinical Course of Two Italian Siblings with Ataxia-Telangiectasia-Like Disorder.
Published in:
2013
By:
- Palmeri, Silvia;
- Rufa, Alessandra;
- Pucci, Barbara;
- Santarnecchi, Emiliano;
- Malandrini, Alessandro;
- Stromillo, Maria;
- Mandalà, Marco;
- Rosini, Francesca;
- Stefano, Nicola;
- Federico, Antonio
Publication type:
Letter
Selective bilateral amyotrophy of the anterior tibial muscle: a case report.
Published in:
1997
By:
- Villanova, Marcello;
- Malandrini, Alessandro;
- Louboutin, Jean Pierre;
- Palmeri, Silvia;
- Ginanneschi, Federica;
- Six, Jan;
- Volterrani, Luca;
- Guazzi, GianCarlo;
- Villanova, M;
- Malandrini, A;
- Louboutin, J P;
- Palmeri, S;
- Ginanneschi, F;
- Six, J;
- Volterrani, L;
- Guazzi, G
Publication type:
Case Study
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
Published in:
Annals of Neurology, 2010, v. 68, n. 5, p. 611, doi. 10.1002/ana.22122
By:
- Kruer, Michael C.;
- Paisán-Ruiz, Coro;
- Boddaert, Nathalie;
- Yoon, Moon Y.;
- Hama, Hiroko;
- Gregory, Allison;
- Malandrini, Alessandro;
- Woltjer, Randall L.;
- Munnich, Arnold;
- Gobin, Stephanie;
- Polster, Brenda J.;
- Palmeri, Silvia;
- Edvardson, Simon;
- Hardy, John;
- Houlden, Henry;
- Hayflick, Susan J.
Publication type:
Article
Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study.
Published in:
European Neurology, 2000, v. 43, n. 2, p. 88, doi. 10.1159/000008141
By:
- Palmeri, Silvia;
- Villanova, Marcello;
- Malandrini, Alessandro;
- van Diggelen, Otto P.;
- Huijmans, Jean G.M.;
- Ceuterick, Chantal;
- Rufa, Alessandra;
- DeFalco, Danilo;
- Ciacci, Giuseppe;
- Martin, Jean J.;
- Guazzi, Giancarlo
Publication type:
Article
CAG Repeat Expansion in an Italian Family with Spinocerebellar Ataxia Type 2 (SCA2): A Clinical and Genetic Study.
Published in:
European Neurology, 1998, v. 40, n. 3, p. 164, doi. 10.1159/000007974
By:
- Malandrini, Alessandro;
- Galli, Lucia;
- Villanova, Marcello;
- Palmeri, Silvia;
- Parrotta, Emma;
- DeFalco, Danilo;
- Cappelli, Michela;
- Salvatore Grieco, Gaetano;
- Renieri, Alessandra;
- Guazzi, Giancarlo
Publication type:
Article
Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity.
Published in:
Human Mutation, 2013, v. 34, n. 2, p. 296, doi. 10.1002/humu.22241
By:
- Tucci, Arianna;
- Kara, Eleanna;
- Schossig, Anna;
- Wolf, Nicole I.;
- Plagnol, Vincent;
- Fawcett, Katherine;
- Paisán‐Ruiz, Coro;
- Moore, Matthew;
- Hernandez, Dena;
- Musumeci, Sebastiano;
- Tennison, Michael;
- Hennekam, Raoul;
- Palmeri, Silvia;
- Malandrini, Alessandro;
- Raskin, Salmo;
- Donnai, Dian;
- Hennig, Corina;
- Tzschach, Andreas;
- Hordijk, Roel;
- Bast, Thomas
Publication type:
Article
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.
Published in:
Human Molecular Genetics, 2004, v. 13, n. 18, p. 2155, doi. 10.1093/hmg/ddh221
By:
- Delia, Domenico;
- Piane, Maria;
- Buscemi, Giacomo;
- Savio, Camilla;
- Palmeri, Silvia;
- Lulli, Patrizia;
- Carlessi, Luigi;
- Fontanella, Enrico;
- Chessa, Luciana
Publication type:
Article

Found: 7

Clinical Course of Two Italian Siblings with Ataxia-Telangiectasia-Like Disorder.

Selective bilateral amyotrophy of the anterior tibial muscle: a case report.

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study.

CAG Repeat Expansion in an Italian Family with Spinocerebellar Ataxia Type 2 (SCA2): A Clinical and Genetic Study.

Kohlschütter-Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity.

MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.