검색결과 : 3건
| No. | Article |
|---|---|
| 1 |
Novel FAM126A mutations in hypomyelination and congenital cataract disease Traverso M, Assereto S, Gazzerro E, Savasta S, Abdalla EM, Rossi A, Baldassari S, Fruscione F, Ruffinazzi G, Fassad MR, El Beheiry A, Minetti C, Zara F, Biancheri R Biochemical and Biophysical Research Communications, 439(3), 369, 2013 |
| 2 |
Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6 Cannelli N, Garavaglia B, Simonati A, Aiello C, Barzaghi C, Pezzini F, Cilio MR, Biancheri R, Morbin M, Bernardina BD, Granata T, Tessa A, Invernizzi F, Pessagno A, Boldrini R, Zibordi F, Grazian L, Claps D, Carrozzo R, Mole SE, Nardocci N, Santorelli FM Biochemical and Biophysical Research Communications, 379(4), 892, 2009 |
| 3 |
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes Biancheri R, Falace A, Tessa A, Pedernonte M, Scapolan S, Cassandrini D, Aiello C, Rossi A, Broda P, Zara F, Santorelli FM, Minetti C, Bruno C Biochemical and Biophysical Research Communications, 363(4), 1033, 2007 |