Ghent University Academic Bibliography

Journal Article
A1
open access

Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy

Nancy J. Newman, Patrick Yu-Wai-Man, Prem S. Subramanian, Mark L. Moster, An-Guor Wang, Sean P. Donahue, Bart Leroy (UGent) , Valerio Carelli, Valerie Biousse, Catherine Vignal-Clermont, et al.

(2023) BRAIN. 146(4). p.1328-1341

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Journal Article
A1
open access

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

Marcello Scala, Masashi Nishikawa, Hidenori Ito, Hidenori Tabata, Tayyaba Khan, Andrea Accogli, Laura Davids, Anna Ruiz, Pietro Chiurazzi, Gabriella Cericola, et al.

(2022) BRAIN. 145(9). p.3308-3327

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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina D. Fenger, Ahmed Eltokhi, Maert Rannap, Nils A. Koch, et al.

(2022) BRAIN. 145(9). p.2991-3009

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New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

J. Alonso-Pérez, L. González-Quereda, L. Bello, M. Guglieri, V. Straub, P. Gallano, C. Semplicini, E. Pegoraro, V. Zangaro, A. Nascimento, et al.

(2020) BRAIN. 143(9). p.2696-2708

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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Darius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, Miriam Wimmer, Angelica D'Amore, Kathrin Eberhardt, Barbara Brechmann, Marvin Ziegler, Dana M Jensen, Premsai Nagabhyrava, et al.

(2020) BRAIN. 143(10). p.2929-2944

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FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications

TW Rattay, T Lindig, J Baets, K Smets, T Deconinck, AS Söhn, K Hörtnagel, KN Eckstein, S Wiethoff, J Reichbauer, et al.

(2019) BRAIN. 142(6). p.1561-1572

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Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

D Beijer, T Deconinck, Jan De Bleecker (UGent) , MT Dotti, A Malandrini, JA Urtizberea, M Zulaica, A López de Munain, B Asselbergh, P De Jonghe, et al.

(2019) BRAIN. 142(9). p.2605-2616

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Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus

Anja K. Mayer, Muhammad Mahajnah, Mervyn G. Thomas, Yuval Cohen, Adib Habib, Martin Schulze, Gail D. E. Maconachie, Basamat Almoallem Mohammed (UGent) , Elfride De Baere (UGent) , Birgit Lorenz, et al.

(2019) BRAIN. 142(6). p.1528-1534

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The functional network signature of heterogeneity in freezing of gait

Kaylena A. Ehgoetz Martens, Julie Hall (UGent) , Matthew J. Georgiades, Moran Gilat, Courtney C. Walton, Elie Matar, Simon J. G. Lewis and James M. Shine

(2018) BRAIN. 141(4). p.1145-1160

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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff, Katrine M Johannesen, Ulrike BS Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, et al.

(2017) BRAIN. 140(5). p.1316-1336

Academic Bibliography

Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus

The functional network signature of heterogeneity in freezing of gait

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

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