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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Anoctamin-5 related muscle disease : clinical and genetic findings in a large European cohort

Alexander de Bruyn, Federica Montagnese, Sonja Holm-Yildiz, Nanna Scharff Poulsen, Tanya Stojkovic, Anthony Behin, Johanna Palmio, Manu Jokela, Jan De Bleecker (UGent) , Marianne de Visser, et al.

(2023) BRAIN. 146(9). p.3800-3815

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Journal Article
A1
open access

The risk of secondary progressive multiple sclerosis is geographically determined but modifiable

Sifat Sharmin, Izanne Roos, Steve Simpson-Yap, Charles Malpas, Marina M Sánchez, Serkan Ozakbas, Dana Horakova, Eva K Havrdova, Francesco Patti, Raed Alroughani, et al.

(2023) BRAIN. 146(11). p.4633-4644

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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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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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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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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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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

Academic Bibliography

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

Anoctamin-5 related muscle disease : clinical and genetic findings in a large European cohort

The risk of secondary progressive multiple sclerosis is geographically determined but modifiable

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

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

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

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

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

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

FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications

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