Ghent University Academic Bibliography

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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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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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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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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Journal Article
open access

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).

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The functional network signature of heterogeneity in freezing of gait

Kaylena A Ehgoetz Martens, Julie M Hall, 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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Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet De Rycke (UGent) , Dae-In Chang, et al.

(2017) BRAIN. 140. p.287-305

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Journal Article
A1
open access

Involvement of fast-spiking cells in ictal sequences during spontaneous seizures in rats with chronic temporal lobe epilepsy

Adam R Neumann, Robrecht Raedt (UGent) , Hendrik W Steenland, Mathieu Sprengers (UGent) , Katarzyna Bzymek, Zaneta Navratilova, Lilia Mesina, Jeanne Xie, Valerie Lapointe, Fabian Kloosterman, et al.

(2017) BRAIN. 140. p.2355-2369

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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

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Journal Article
A1
open access

Brain networks under attack : robustness properties and the impact of lesions

Hannelore Aerts (UGent) , Wim Fias (UGent) , Karen Caeyenberghs (UGent) and Daniele Marinazzo (UGent)

(2016) BRAIN. 139(12). p.3063-3083

Academic Bibliography

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

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

FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications

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

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

The functional network signature of heterogeneity in freezing of gait

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

Involvement of fast-spiking cells in ictal sequences during spontaneous seizures in rats with chronic temporal lobe epilepsy

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

Brain networks under attack : robustness properties and the impact of lesions

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