Maria Cundall

发表

Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus‐Merzbacher disease

R. Winter, K. Woodward, R. Surtees, 2003, American journal of medical genetics. Part A.

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.

N. Carter, H. Heng, M. Ross, 2005, American journal of human genetics.

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination

M. Bitner-Glindzicz, K. Woodward, R. Surtees, 2006, Neurogenetics.

Gene dosage and the molecular mechanisms of Pelizaeus-Merzbacher disease

Maria Cundall, 2004 .

Immune and stress response 'cross-talk' in the Drosophila Malpighian tubule.

S. Davies, P. Cabrero, J. Dow, 2012, Journal of insect physiology.

Tocilizumab in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial

Steve B Jones, K. Y. Wong, Chamil H. Hettiarachchi, 2021, Lancet.

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.

R. Lovell-Badge, M. Dattani, P. Thomas, 2005, American journal of human genetics.

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.

K. Woodward, R. Surtees, M. Endzinienė, 2005, Brain : a journal of neurology.

The receptor guanylate cyclase Gyc76C and a peptide ligand, NPLP1-VQQ, modulate the innate immune IMD pathway in response to salt stress

L. Schoofs, I. Mertens, S. Davies, 2012, Peptides.