Gene Expression by Mouse Inner Ear Hair Cells during Development
Scheffer, Déborah I, Shen, Jun, Corey, David P, Chen, Zheng-Yi
Published in The Journal of neuroscience (22.04.2015)
Published in The Journal of neuroscience (22.04.2015)
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Rescue of Hearing by Gene Delivery to Inner-Ear Hair Cells Using Exosome-Associated AAV
György, Bence, Sage, Cyrille, Indzhykulian, Artur A., Scheffer, Deborah I., Brisson, Alain R., Tan, Sisareuth, Wu, Xudong, Volak, Adrienn, Mu, Dakai, Tamvakologos, Panos I., Li, Yaqiao, Fitzpatrick, Zachary, Ericsson, Maria, Breakefield, Xandra O., Corey, David P., Maguire, Casey A.
Published in Molecular therapy (01.02.2017)
Published in Molecular therapy (01.02.2017)
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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B W M, Coe, B P, Bernier, R, Green, C, Gerdts, J, Witherspoon, K, Kleefstra, T, Willemsen, M H, Kumar, R, Bosco, P, Fichera, M, Li, D, Amaral, D, Cristofoli, F, Peeters, H, Haan, E, Romano, C, Mefford, H C, Scheffer, I, Gecz, J, de Vries, B B A, Eichler, E E
Published in Molecular psychiatry (01.01.2016)
Published in Molecular psychiatry (01.01.2016)
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MRI and pathology correlations in the medulla in sudden unexpected death in epilepsy (SUDEP): a postmortem study
Patodia, S., Tachrount, M., Somani, A., Scheffer, I., Yousry, T., Golay, X., Sisodiya, S. M., Thom, M.
Published in Neuropathology and applied neurobiology (01.02.2021)
Published in Neuropathology and applied neurobiology (01.02.2021)
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The core network in absence epilepsy. Differences in cortical and thalamic BOLD response
Carney, P W, Masterton, R A J, Harvey, A S, Scheffer, I E, Berkovic, S F, Jackson, G D
Published in Neurology (07.09.2010)
Published in Neurology (07.09.2010)
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Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency
Mullen, S A, Suls, A, De Jonghe, P, Berkovic, S F, Scheffer, I E
Published in Neurology (03.08.2010)
Published in Neurology (03.08.2010)
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Exosome-associated AAV vector as a robust and convenient neuroscience tool
Hudry, E, Martin, C, Gandhi, S, György, B, Scheffer, D I, Mu, D, Merkel, S F, Mingozzi, F, Fitzpatrick, Z, Dimant, H, Masek, M, Ragan, T, Tan, S, Brisson, A R, Ramirez, S H, Hyman, B T, Maguire, C A
Published in Gene therapy (01.04.2016)
Published in Gene therapy (01.04.2016)
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Electroclinical features of absence seizures in childhood absence epilepsy
Sadleir, L G, Farrell, K, Smith, S, Connolly, M B, Scheffer, I E
Published in Neurology (08.08.2006)
Published in Neurology (08.08.2006)
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De novo SCN1A mutations in migrating partial seizures of infancy
Carranza Rojo, D, Hamiwka, L, McMahon, J M, Dibbens, L M, Arsov, T, Suls, A, Stödberg, T, Kelley, K, Wirrell, E, Appleton, B, Mackay, M, Freeman, J L, Yendle, S C, Berkovic, S F, Bienvenu, T, De Jonghe, P, Thorburn, D R, Mulley, J C, Mefford, H C, Scheffer, I E
Published in Neurology (26.07.2011)
Published in Neurology (26.07.2011)
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Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome
Halliday, B J, Baynam, G, Ewans, L, Greenhalgh, L, Leventer, R J, Pilz, D T, Sachdev, R, Scheffer, I E, Markie, D M, McGillivray, G, Robertson, S P, Mandelstam, S
Published in American journal of neuroradiology : AJNR (01.11.2022)
Published in American journal of neuroradiology : AJNR (01.11.2022)
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Journal Article
XIRP2, an Actin-Binding Protein Essential for Inner Ear Hair-Cell Stereocilia
Scheffer, Déborah I., Zhang, Duan-Sun, Shen, Jun, Indzhykulian, Artur, Karavitaki, K. Domenica, Xu, Yichao Joy, Wang, Qinchuan, Lin, Jim Jung-Ching, Chen, Zheng-Yi, Corey, David P.
Published in Cell reports (Cambridge) (24.03.2015)
Published in Cell reports (Cambridge) (24.03.2015)
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Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy
Tan, N C K, Heron, S E, Scheffer, I E, Pelekanos, J T, McMahon, J M, Vears, D F, Mulley, J C, Berkovic, S F
Published in Neurology (28.09.2004)
Published in Neurology (28.09.2004)
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Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations
Deprez, L, Weckhuysen, S, Holmgren, P, Suls, A, Van Dyck, T, Goossens, D, Del-Favero, J, Jansen, A, Verhaert, K, Lagae, L, Jordanova, A, Van Coster, R, Yendle, S, Berkovic, S F, Scheffer, I, Ceulemans, B, De Jonghe, P
Published in Neurology (28.09.2010)
Published in Neurology (28.09.2010)
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In response to ‘Volume loss and altered neuronal composition in the brainstem reticular zone may not cause sudden unexpected death in epilepsy’
Patodia, S., Tachrount, M., Somani, A., Scheffer, I., Yousry, T., Golay, X., Sisodiya, S., Thom, M.
Published in Neuropathology and applied neurobiology (01.02.2021)
Published in Neuropathology and applied neurobiology (01.02.2021)
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Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults
Jansen, F E, Sadleir, L G, Harkin, L A, Vadlamudi, L, McMahon, J M, Mulley, J C, Scheffer, I E, Berkovic, S F
Published in Neurology (26.12.2006)
Published in Neurology (26.12.2006)
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A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence
Klein, K M, Yendle, S C, Harvey, A S, Antony, J H, Wallace, G, Bienvenu, T, Scheffer, I E
Published in Neurology (19.04.2011)
Published in Neurology (19.04.2011)
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