1. A systematic review of adeno-associated virus gene therapies in neurology: the need for consistent safety monitoring of a promising treatment. Issue 12 (8th September 2022) Authors: Horton, Rebecca H; Saade, Dimah; Markati, Theodora; Harriss, Elinor; Bönnemann, Carsten G; Muntoni, Francesco; Servais, Laurent Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 12(2022) Page Start: 1276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. Issue 12 (15th November 2021) Authors: Donkervoort, Sandra; Krause, Niklas; Dergai, Mykola; Yun, Pomi; Koliwer, Judith; Gorokhova, Svetlana; Geist Hauserman, Janelle; Cummings, Beryl B; Hu, Ying; Smith, Rosemarie; Uapinyoying, Prech; Ganesh, Vijay S; Ghosh, Partha S; Monaghan, Kristin G; Edassery, Seby L; Ferle, Pia E; Silverstein, Sa... Journal: EMBO molecular medicine Issue: Volume 13:Issue 12(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. Issue 2 (7th July 2016) Authors: Berko, Esther R; Cho, Megan T; Eng, Christine; Shao, Yunru; Sweetser, David A; Waxler, Jessica; Robin, Nathaniel H; Brewer, Fallon; Donkervoort, Sandra; Mohassel, Payam; Bönnemann, Carsten G; Bialer, Martin; Moore, Christine; Wolfe, Lynne A; Tifft, Cynthia J; Shen, Yufeng; Retterer, Kyle; Millan,... Journal: Journal of medical genetics Issue: Volume 54:Issue 2(2017) Page Start: 84 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. (23rd March 2020) Authors: Woldegebriel, Rosa; Kvist, Jouni; Andersson, Noora; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Bijlsma, Emilia K; Hoffer, Mariëtte J V; Ryan, Monique M; Stark, Zornitza; Walsh, Maie; Cuppen, Inge; van den Boogaard, Marie-Jose´ H; Bharucha-Goebel, Diana; Donkervoort, Sandra; Winchester, Sara... Journal: Human molecular genetics Issue: Volume 29:Number 9(2020) Page Start: 1426 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. International retrospective natural history study of LMNA-related congenital muscular dystrophy. Issue 3 (11th April 2021) Authors: Ben Yaou, Rabah; Yun, Pomi; Dabaj, Ivana; Norato, Gina; Donkervoort, Sandra; Xiong, Hui; Nascimento, Andrés; Maggi, Lorenzo; Sarkozy, Anna; Monges, Soledad; Bertoli, Marta; Komaki, Hirofumi; Mayer, Michèle; Mercuri, Eugenio; Zanoteli, Edmar; Castiglioni, Claudia; Marini-Bettolo, Chiara; D'Amico, ... Journal: Brain communications Issue: Volume 3:Issue 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration. (12th November 2018) Authors: Shashi, Vandana; Magiera, Maria M; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik‐Schöneborn, Sabine; Norman, Andrew; Lopes Abath Neto, Osorio; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A; Marom, Ronit; Arold, Stefan T; Guzmán‐Vega, Francisco J; Pena, Loren ... Journal: EMBO journal Issue: Volume 37:Number 23(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. MRI in sarcoglycanopathies: a large international cohort study. Issue 1 (9th September 2017) Authors: Tasca, Giorgio; Monforte, Mauro; Díaz-Manera, Jordi; Brisca, Giacomo; Semplicini, Claudio; D'Amico, Adele; Fattori, Fabiana; Pichiecchio, Anna; Berardinelli, Angela; Maggi, Lorenzo; Maccagnano, Elio; Løkken, Nicoline; Marini-Bettolo, Chiara; Munell, Francina; Sanchez, Angel; Alshaikh, Nahla; Voer... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 89:Issue 1(2018) Page Start: 72 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗