NEW EMBO MEMBER’S REVIEW: On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention

av Farrar, G.Jane, Kenna, Paul F., Humphries, Peter
Publicerad 2002

Next-Generation Sequencing Applications for Inherited Retinal Diseases

av Dockery, Adrian, Whelan, Laura, Humphries, Pete, Farrar, G. Jane
I publikationen Int J Mol Sci (2021)

Gene expression changes during retinal development and rod specification

av Mansergh, Fiona C., Carrigan, Matthew, Hokamp, Karsten, Farrar, G. Jane
I publikationen Mol Vis (2015)

Non-photoreceptor Expression of Tulp1 May Contribute to Extensive Retinal Degeneration in Tulp1-/- Mice

av Palfi, Arpad, Yesmambetov, Adlet, Humphries, Pete, Hokamp, Karsten, Farrar, G. Jane
I publikationen Front Neurosci (2020)

Direct effects of phenformin on metabolism/bioenergetics and viability of SH-SY5Y neuroblastoma cells

av Geoghegan, Fintan, Chadderton, Naomi, Farrar, G. Jane, Zisterer, Daniela M., Porter, Richard K.
I publikationen Oncol Lett (2017)

Cell therapy using retinal progenitor cells shows therapeutic effect in a chemically-induced rotenone mouse model of Leber hereditary optic neuropathy

av Mansergh, Fiona C, Chadderton, Naomi, Kenna, Paul F, Gobbo, Oliviero L, Farrar, G Jane
Publicerad 2014

A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration

av Carrigan, Matthew, Duignan, Emma, Humphries, Pete, Palfi, Arpad, Kenna, Paul F, Farrar, G Jane
I publikationen Br J Ophthalmol (2016)

Common microRNA signature in mouse models of retinal degeneration

av Loscher, Carol, Hokamp, Karsten, Wilson, John H., Li, Tiansen, Humphries, Peter, Farrar, G. Jane, Palfi, Arpad
Publicerad 2008

Tubby-like protein 1 (Tulp1) is a target of microRNA-134 and is down-regulated in experimental epilepsy

av Rodriguez, Amaya Sanz, Engel, Tobias, Palfi, Arpad, Farrar, G Jane, Henshall, David C, Jimenez-Mateos, Eva M
I publikationen Int J Physiol Pathophysiol Pharmacol (2017)

A FBN1 variant manifesting as non-syndromic ectopia lentis with retinal detachment: clinical and genetic characteristics

av Stephenson, Kirk A. J., Dockery, Adrian, O’Keefe, Michael, Green, Andrew, Farrar, G. Jane, Keegan, David J.
I publikationen Eye (Lond) (2019)

Altered retinal microRNA expression profile in a mouse model of retinitis pigmentosa

av Loscher, Carol J, Hokamp, Karsten, Kenna, Paul F, Ivens, Alasdair C, Humphries, Peter, Palfi, Arpad, Farrar, G Jane
Publicerad 2007

AAV-Delivered Tulp1 Supplementation Therapy Targeting Photoreceptors Provides Minimal Benefit in Tulp1−/− Retinas

av Palfi, Arpad, Yesmambetov, Adlet, Millington-Ward, Sophia, Shortall, Ciara, Humphries, Pete, Kenna, Paul F., Chadderton, Naomi, Farrar, G. Jane
I publikationen Front Neurosci (2020)

A Novel Retinal Ganglion Cell Promoter for Utility in AAV Vectors

av Hanlon, Killian S., Chadderton, Naomi, Palfi, Arpad, Blanco Fernandez, Alfonso, Humphries, Peter, Kenna, Paul F., Millington-Ward, Sophia, Farrar, G. Jane
I publikationen Front Neurosci (2017)

Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations

av Dockery, Adrian, Stephenson, Kirk, Keegan, David, Wynne, Niamh, Silvestri, Giuliana, Humphries, Peter, Kenna, Paul F., Carrigan, Matthew, Farrar, G. Jane
I publikationen Genes (Basel) (2017)

Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa

av Kiang, Anna-Sophia, Kenna, Paul F., Humphries, Marian M., Ozaki, Ema, Koenekoop, Robert K., Campbell, Matthew, Farrar, G. Jane, Humphries, Pete
I publikationen Genes (Basel) (2020)

C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive retinitis pigmentosa

av Humphries, Marian M, Kenna, Paul F, Campbell, Matthew, Tam, Lawrence C S, Nguyen, Anh T H, Farrar, G Jane, Botto, Marina, Kiang, Anna Sophia, Humphries, Peter
Publicerad 2012

Toward an elucidation of the molecular genetics of inherited retinal degenerations

av Farrar, G. Jane, Carrigan, Matthew, Dockery, Adrian, Millington-Ward, Sophia, Palfi, Arpad, Chadderton, Naomi, Humphries, Marian, Kiang, Anna Sophia, Kenna, Paul F., Humphries, Pete
I publikationen Hum Mol Genet (2017)

Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy

av Kenna, Paul F, Humphries, Marian M, Kiang, Anna-Sophia, Brabet, Philippe, Guillou, Laurent, Ozaki, Ema, Campbell, Matthew, Farrar, G Jane, Koenekoop, Robert, Humphries, Pete
I publikationen BMJ Open Ophthalmol (2020)

Novel 199 base pair NEFH promoter drives expression in retinal ganglion cells

av Millington-Ward, Sophia, Chadderton, Naomi, Berkeley, Megan, Finnegan, Laura K., Hanlon, Killian S., Carrigan, Matthew, Humphries, Peter, Kenna, Paul F., Palfi, Arpad, Farrar, G. Jane
I publikationen Sci Rep (2020)

Improved Retinal Function in a Mouse Model of Dominant Retinitis Pigmentosa Following AAV-delivered Gene Therapy

av Chadderton, Naomi, Millington-Ward, Sophia, Palfi, Arpad, O'Reilly, Mary, Tuohy, Gearóid, Humphries, Marian M, Li, Tiansen, Humphries, Peter, Kenna, Paul F, Farrar, G Jane
Publicerad 2009