Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

por Wheway, Gabrielle, Mitchison, Hannah M.
Publicado en Front Genet (2019)

Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

por Wheway, Gabrielle, Mitchison, Hannah M.
Publicado en Front Genet (2019)

CILIA2012: Cilia in development and disease

por Mitchison, Hannah M, Beales, Philip L
Publicado 2012

Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models

por Chan, Chun-Hung, Mitchison, Hannah M., Pearce, David A.
Publicado 2008

Selectivity and Types of Cell Death in the Neuronal Ceroid Lipofuscinoses (NCLs)

por Mitchison, Hannah M., Lim, Ming J., Cooper, Jonathan D.
Publicado en Brain Pathol (2006)

Sperm defects in primary ciliary dyskinesia and related causes of male infertility

por Sironen, Anu, Shoemark, Amelia, Patel, Mitali, Loebinger, Michael R., Mitchison, Hannah M.
Publicado en Cell Mol Life Sci (2019)

Diagnosis and management of primary ciliary dyskinesia

por Lucas, Jane S, Burgess, Andrea, Mitchison, Hannah M, Moya, Eduardo, Williamson, Michael, Hogg, Claire
Publicado 2014

Altered Cerebellar Short-Term Plasticity but No Change in Postsynaptic AMPA-Type Glutamate Receptors in a Mouse Model of Juvenile Batten Disease

por Studniarczyk, Dorota, Needham, Elizabeth L., Mitchison, Hannah M., Farrant, Mark, Cull-Candy, Stuart G.
Publicado en eNeuro (2018)

Primary ciliary dyskinesia (Siewert's / Kartagener's Syndrome): Respiratory symptoms and psycho-social impact

por McManus, I Christopher, Mitchison, Hannah M, Chung, Eddie MK, Stubbings, Georgina F, Martin, Naomi
Publicado 2003

Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families

por Reish, Orit, Slatkin, Montgomery, Chapman-Shimshoni, Daphne, Elizur, Arnon, Chioza, Barry, Castleman, Victoria, Mitchison, Hannah M.
Publicado 2010

Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3(Δex1-6) mice modelling juvenile neuronal ceroid lipofuscinosis (Batten dise...

por Wavre-Shapton, Silène T., Calvi, Alessandra A., Turmaine, Mark, Seabra, Miguel C., Cutler, Daniel F., Futter, Clare E., Mitchison, Hannah M.
Publicado en Hum Mol Genet (2015)

A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses

por Salek, Reza M., Pears, Michael R., Cooper, Jonathan D., Mitchison, Hannah M., Pearce, David A., Mortishire-Smith, Russell J., Griffin, Julian L.
Publicado 2011

Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia

por Shoemark, Amelia, Frost, Emily, Dixon, Mellisa, Ollosson, Sarah, Kilpin, Kate, Patel, Mitali, Scully, Juliet, Rogers, Andrew V., Mitchison, Hannah M., Bush, Andrew, Hogg, Claire
Publicado en Am J Respir Crit Care Med (2017)

Primary ciliary dyskinesia: current state of the art

por Bush, Andrew, Chodhari, Rahul, Collins, Nicola, Copeland, Fiona, Hall, Pippa, Harcourt, Jonny, Hariri, Mohamed, Hogg, Claire, Lucas, Jane, Mitchison, Hannah M, O'Callaghan, Christopher, Phillips, Gill
Publicado 2007

The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies

por Benmerah, Alexandre, Durand, Bénédicte, Giles, Rachel H, Harris, Tess, Kohl, Linda, Laclef, Christine, Meilhac, Sigolène M, Mitchison, Hannah M, Pedersen, Lotte B, Roepman, Ronald, Swoboda, Peter, Ueffing, Marius, Bastin, Philippe
Publicado en Cilia (2015)

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

por Shaheen, Ranad, Schmidts, Miriam, Faqeih, Eissa, Hashem, Amal, Lausch, Ekkehart, Holder, Isabel, Superti-Furga, Andrea, Mitchison, Hannah M., Almoisheer, Agaadir, Alamro, Rana, Alshiddi, Tarfa, Alzahrani, Fatma, Beales, Philip L., Alkuraya, Fowzan S.
Publicado en Hum Mol Genet (2015)

Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons

por Parviainen, Lotta, Dihanich, Sybille, Anderson, Greg W., Wong, Andrew M., Brooks, Helen R., Abeti, Rosella, Rezaie, Payam, Lalli, Giovanna, Pope, Simon, Heales, Simon J., Mitchison, Hannah M., Williams, Brenda P., Cooper, Jonathan D.
Publicado en Acta Neuropathol Commun (2017)

Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation

por Robson, Evie Alexandra, Dixon, Luke, Causon, Liam, Dawes, William, Benenati, Massimo, Fassad, Mahmoud, Hirst, Robert Anthony, Kenia, Priti, Moya, Eduardo Fernandez, Patel, Mitali, Peckham, Daniel, Rutman, Andrew, Mitchison, Hannah M., Mankad, Kshitij, O'Callaghan, Christopher
Publicado en Neurol Genet (2020)

Genome-wide High-Density SNP-Based Linkage Analysis of Infantile Hypertrophic Pyloric Stenosis Identifies Loci on Chromosomes 11q14-q22 and Xq23

por Everett, Kate V., Chioza, Barry A., Georgoula, Christina, Reece, Ashley, Capon, Francesca, Parker, Keith A., Cord-Udy, Cathy, McKeigue, Paul, Mitton, Sally, Pierro, Agostino, Puri, Prem, Mitchison, Hannah M., Chung, Eddie M.K., Gardiner, R. Mark
Publicado 2008

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

por Bartoloni, Lucia, Blouin, Jean-Louis, Pan, Yanzhen, Gehrig, Corinne, Maiti, Amit K., Scamuffa, Nathalie, Rossier, Colette, Jorissen, Mark, Armengot, Miguel, Meeks, Maggie, Mitchison, Hannah M., Chung, Eddie M. K., Delozier-Blanchet, Celia D., Craigen, William J., Antonarakis, Stylianos E.
Publicado 2002