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

بواسطة Wheway, Gabrielle, Mitchison, Hannah M.
الحاوية / القاعدة Front Genet (2019)

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

بواسطة Wheway, Gabrielle, Mitchison, Hannah M.
الحاوية / القاعدة Front Genet (2019)

CILIA2012: Cilia in development and disease

بواسطة Mitchison, Hannah M, Beales, Philip L
منشور في 2012

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

بواسطة Chan, Chun-Hung, Mitchison, Hannah M., Pearce, David A.
منشور في 2008

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

بواسطة Mitchison, Hannah M., Lim, Ming J., Cooper, Jonathan D.
الحاوية / القاعدة Brain Pathol (2006)

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

بواسطة Sironen, Anu, Shoemark, Amelia, Patel, Mitali, Loebinger, Michael R., Mitchison, Hannah M.
الحاوية / القاعدة Cell Mol Life Sci (2019)

Diagnosis and management of primary ciliary dyskinesia

بواسطة Lucas, Jane S, Burgess, Andrea, Mitchison, Hannah M, Moya, Eduardo, Williamson, Michael, Hogg, Claire
منشور في 2014

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

بواسطة Studniarczyk, Dorota, Needham, Elizabeth L., Mitchison, Hannah M., Farrant, Mark, Cull-Candy, Stuart G.
الحاوية / القاعدة eNeuro (2018)

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

بواسطة McManus, I Christopher, Mitchison, Hannah M, Chung, Eddie MK, Stubbings, Georgina F, Martin, Naomi
منشور في 2003

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

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

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

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

A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses

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

Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia

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

Primary ciliary dyskinesia: current state of the art

بواسطة 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
منشور في 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...

بواسطة 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
منشور في 1993

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

بواسطة 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
الحاوية / القاعدة Cilia (2015)

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

بواسطة 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.
الحاوية / القاعدة Hum Mol Genet (2015)

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

بواسطة 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.
الحاوية / القاعدة Acta Neuropathol Commun (2017)

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

بواسطة 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
الحاوية / القاعدة Neurol Genet (2020)

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

بواسطة 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
منشور في 2008