Mitochondria and Quality Control Defects in a Mouse Model of Gaucher Disease—Links to Parkinson’s Disease
Osellame, Laura D., Rahim, Ahad A., Hargreaves, Iain P., Gegg, Matthew E., Richard-Londt, Angela, Brandner, Sebastian, Waddington, Simon N., Schapira, Anthony H.V., Duchen, Michael R.
Published in Cell metabolism (04.06.2013)
Published in Cell metabolism (04.06.2013)
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Journal Article
Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis
Mole, Sara E, Anderson, Glenn, Band, Heather A, Berkovic, Samuel F, Cooper, Jonathan D, Kleine Holthaus, Sophia-Martha, McKay, Tristan R, Medina, Diego L, Rahim, Ahad A, Schulz, Angela, Smith, Alexander J
Published in Lancet neurology (01.01.2019)
Published in Lancet neurology (01.01.2019)
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Journal Article
Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease
Seker Yilmaz, Berna, Baruteau, Julien, Rahim, Ahad A, Gissen, Paul
Published in International journal of molecular sciences (17.07.2020)
Published in International journal of molecular sciences (17.07.2020)
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Journal Article
Fetal gene therapy for neurodegenerative disease of infants
Massaro, Giulia, Mattar, Citra N. Z., Wong, Andrew M. S., Sirka, Ernestas, Buckley, Suzanne M. K., Herbert, Bronwen R., Karlsson, Stefan, Perocheau, Dany P., Burke, Derek, Heales, Simon, Richard-Londt, Angela, Brandner, Sebastian, Huebecker, Mylene, Priestman, David A., Platt, Frances M., Mills, Kevin, Biswas, Arijit, Cooper, Jonathan D., Chan, Jerry K. Y., Cheng, Seng H., Waddington, Simon N., Rahim, Ahad A.
Published in Nature medicine (01.09.2018)
Published in Nature medicine (01.09.2018)
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Journal Article
Epilepsy Gene Therapy Using an Engineered Potassium Channel
Snowball, Albert, Chabrol, Elodie, Wykes, Robert C, Shekh-Ahmad, Tawfeeq, Cornford, Jonathan H, Lieb, Andreas, Hughes, Michael P, Massaro, Giulia, Rahim, Ahad A, Hashemi, Kevan S, Kullmann, Dimitri M, Walker, Matthew C, Schorge, Stephanie
Published in The Journal of neuroscience (17.04.2019)
Published in The Journal of neuroscience (17.04.2019)
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Journal Article
Diabetes drugs activate neuroprotective pathways in models of neonatal hypoxic-ischemic encephalopathy
Poupon-Bejuit, Laura, Geard, Amy, Millicheap, Nathan, Rocha-Ferreira, Eridan, Hagberg, Henrik, Thornton, Claire, Rahim, Ahad A
Published in EMBO molecular medicine (14.06.2024)
Published in EMBO molecular medicine (14.06.2024)
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Journal Article
Special edition: The NCLs/Batten disease
Rahim, Ahad A., Russell, Claire, Mole, Sara E.
Published in Biochimica et biophysica acta. Molecular basis of disease (01.09.2020)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.09.2020)
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Journal Article
Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease
kleine Holthaus, Sophia-Martha, Herranz-Martin, Saul, Massaro, Giulia, Aristorena, Mikel, Hoke, Justin, Hughes, Michael P, Maswood, Ryea, Semenyuk, Olha, Basche, Mark, Shah, Amna Z, Klaska, Izabela P, Smith, Alexander J, Mole, Sara E, Rahim, Ahad A, Ali, Robin R
Published in Human molecular genetics (01.12.2019)
Published in Human molecular genetics (01.12.2019)
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Journal Article
Dysregulated Wnt and NFAT signaling in a Parkinson’s disease LRRK2 G2019S knock-in model
Wetzel, Andrea, Lei, Si Hang, Liu, Tiansheng, Hughes, Michael P., Peng, Yunan, McKay, Tristan, Waddington, Simon N., Grannò, Simone, Rahim, Ahad A., Harvey, Kirsten
Published in Scientific reports (29.05.2024)
Published in Scientific reports (29.05.2024)
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Journal Article
Neuroprotective exendin-4 enhances hypothermia therapy in a model of hypoxic-ischaemic encephalopathy
Rocha-Ferreira, Eridan, Poupon, Laura, Zelco, Aura, Leverin, Anna-Lena, Nair, Syam, Jonsdotter, Andrea, Carlsson, Ylva, Thornton, Claire, Hagberg, Henrik, Rahim, Ahad A
Published in Brain (London, England : 1878) (01.10.2018)
Published in Brain (London, England : 1878) (01.10.2018)
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Journal Article
Comparison of different promoters to improve AAV vector-mediated gene therapy for neuronopathic Gaucher disease
Massaro, Giulia, Geard, Amy F, Nelvagal, Hemanth R, Gore, Katrina, Clemo, Nadine K, Waddington, Simon N, Rahim, Ahad A
Published in Human molecular genetics (16.05.2024)
Published in Human molecular genetics (16.05.2024)
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Journal Article
A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency
Tordo, Julie, O'Leary, Claire, Antunes, André S L M, Palomar, Nuria, Aldrin-Kirk, Patrick, Basche, Mark, Bennett, Antonette, D'Souza, Zelpha, Gleitz, Hélène, Godwin, Annie, Holley, Rebecca J, Parker, Helen, Liao, Ai Yin, Rouse, Paul, Youshani, Amir Saam, Dridi, Larbi, Martins, Carla, Levade, Thierry, Stacey, Kevin B, Davis, Daniel M, Dyer, Adam, Clément, Nathalie, Björklund, Tomas, Ali, Robin R, Agbandje-McKenna, Mavis, Rahim, Ahad A, Pshezhetsky, Alexey, Waddington, Simon N, Linden, R Michael, Bigger, Brian W, Henckaerts, Els
Published in Brain (London, England : 1878) (01.07.2018)
Published in Brain (London, England : 1878) (01.07.2018)
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Journal Article
Microfluidic production of nanogels as alternative triple transfection reagents for the manufacture of adeno-associated virus vectors
Whiteley, Zoe, Massaro, Giulia, Gkogkos, Georgios, Gavriilidis, Asterios, Waddington, Simon N, Rahim, Ahad A, Craig, Duncan Q. M
Published in Nanoscale (23.03.2023)
Published in Nanoscale (23.03.2023)
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Journal Article
Combining Gene and Stem Cell Therapy for Peripheral Nerve Tissue Engineering
Busuttil, Francesca, Rahim, Ahad A, Phillips, James B
Published in Stem cells and development (15.02.2017)
Published in Stem cells and development (15.02.2017)
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Journal Article
AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease
Hughes, Michael P, Smith, Dave A, Morris, Lauren, Fletcher, Claire, Colaco, Alexandria, Huebecker, Mylene, Tordo, Julie, Palomar, Nuria, Massaro, Giulia, Henckaerts, Els, Waddington, Simon N, Platt, Frances M, Rahim, Ahad A
Published in Human molecular genetics (01.09.2018)
Published in Human molecular genetics (01.09.2018)
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Journal Article
Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes
Massaro, Giulia, Hughes, Michael P, Whaler, Sammie M, Wallom, Kerri-Lee, Priestman, David A, Platt, Frances M, Waddington, Simon N, Rahim, Ahad A
Published in Human molecular genetics (29.07.2020)
Published in Human molecular genetics (29.07.2020)
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Journal Article
Delineating pathological pathways in a chemically induced mouse model of Gaucher disease
Vardi, Ayelet, Zigdon, Hila, Meshcheriakova, Anna, Klein, Andrés D, Yaacobi, Chen, Eilam, Raya, Kenwood, Brandon M, Rahim, Ahad A, Massaro, Giulia, Merrill Jr, Alfred H, Vitner, Einat B, Futerman, Anthony H
Published in The Journal of pathology (01.08.2016)
Published in The Journal of pathology (01.08.2016)
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Journal Article
Impaired cellular bioenergetics caused by GBA1 depletion sensitizes neurons to calcium overload
Plotegher, Nicoletta, Perocheau, Dany, Ferrazza, Ruggero, Massaro, Giulia, Bhosale, Gauri, Zambon, Federico, Rahim, Ahad A., Guella, Graziano, Waddington, Simon N., Szabadkai, Gyorgy, Duchen, Michael R.
Published in Cell death and differentiation (01.05.2020)
Published in Cell death and differentiation (01.05.2020)
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Journal Article