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

Por Wheway, Gabrielle, Mitchison, Hannah M.
Publicado no Front Genet (2019)

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

Por Wheway, Gabrielle, Mitchison, Hannah M.
Publicado no Front Genet (2019)

CILIA2012: Cilia in development and disease

Por Mitchison, Hannah M, Beales, Philip L
Publicado em 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 em 2008

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 no 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 em 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 no 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 em 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 em 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 no 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 em 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 no 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 em 2007

Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): Evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile o...

Por Williams, Ruth, Vesa, Jouni, Järvelä, Irma, McKay, Tristan, Mitchison, Hannah, Hellsten, Elina, Thompson, Andrew, Callen, David, Sutherland, Grant, Luna-Battadano, David, Stallings, Ray, Peltonen, Leena, Gardiner, Mark
Publicado em 1993

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 no 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 no 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 no 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 no 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 em 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 em 2002