Publicaciones

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Enero 1, 2009

Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van…

Detalles

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

Diciembre 1, 2008

Alías L, Bernal S, Fuentes-Prior P, Barceló MJ, Also E, Martínez-Hernández R, Rodríguez-Alvarez FJ, Martín Y, Aller E, Grau E, Peciña A, Antiñolo G, Galán E, Rosa AL, Fernández-Burriel M, Borrego S, Millán JM, Hernández-Chico C, Baiget M, Tizzano EF. Hum Genet. 2009 Feb;125(1):29-39. Epub 2008 Dec 3.

Aicardi-Goutières syndrome. Review of the genetic bases and their mechanisms

Noviembre 1, 2008

Sanchis Calvo A, Cerveró Martí L, Martínez Frías ML. An Pediatr (Barc). 2008 Nov;69(5):496-7. Spanish

Alström syndrome: clinical and genetic features, and a diagnostic guide to foresee complications

Noviembre 1, 2008

Mendioroz J, Bermejo E, Marshall JD, Naggert JK, Collin GB, Martínez-Frías ML. Med Clin (Barc). 2008 Nov 29;131(19):741

Publicaciones

Orden según fecha de publicación:

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

Aicardi-Goutières syndrome. Review of the genetic bases and their mechanisms

Alström syndrome: clinical and genetic features, and a diagnostic guide to foresee complications