D. Beltrán-Valero de Bernabé

发表

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome

H. Brunner, J. van Reeuwijk, H. van Bokhoven, 2007, Human Genetics.

Profound skeletal muscle depletion of alpha-dystroglycan in Walker-Warburg syndrome.

Susan C. Brown, F. Muntoni, C. Sewry, 2003, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10

H. Brunner, B. van der Zwaag, H. Kremer, 2002, Journal of medical genetics.

Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients.

H. Brunner, B. van der Zwaag, H. van Bokhoven, 2004, Pediatric neurology.

Functional Glycosylation of Dystroglycan Is Crucial for Thymocyte Development in the Mouse

K. Campbell, S. Kunz, M. Oldstone, 2010, PloS one.

Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice.

J. Lueck, K. Campbell, J. Faulkner, 2010, The Journal of clinical investigation.

Structural and functional analysis of mutations in alkaptonuria.

S. Rodríguez de Córdoba, D. Timm, J. Rodríguez, 2000, Human molecular genetics.

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

C. Walsh, H. Brunner, B. van der Zwaag, 2002, American journal of human genetics.

POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

M. Huynen, C. Walsh, F. Muntoni, 2005, Journal of Medical Genetics.

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome

F. Muntoni, H. Brunner, W. Dobyns, 2004, Journal of Medical Genetics.

A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype

B. Cormand, W. Dobyns, H. van Bokhoven, 2003, Journal of medical genetics.

The human homogentisate 1,2-dioxygenase (HGO) gene.

S. Rodríguez de Córdoba, M. Peñalva, S. R. Córdoba, 1997, Genomics.

Loss of LARGE2 Disrupts Functional Glycosylation of α-Dystroglycan in Prostate Cancer*

Brian J. Smith, K. Campbell, C. Lynch, 2012, The Journal of Biological Chemistry.

A dystroglycan mutation associated with limb-girdle muscular dystrophy.

F. Muntoni, K. Campbell, Y. Hara, 2011, The New England journal of medicine.

Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.

I. Chiarelli, B. Porfirio, E. Mayatepek, 1998, American journal of human genetics.

Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).

S. Rodríguez de Córdoba, S. R. Córdoba, D. Beltrán-Valero de Bernabé, 1999, American journal of human genetics.