1. A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy. Issue 12 (16th March 2020) Authors: Cabrera-Serrano, Macarena; Coote, David Joseph; Azmanov, Dimitar; Goullee, Hayley; Andersen, Erik; McLean, Catriona; Davis, Mark; Ishimura, Ryosuke; Stark, Zornitza; Vallat, Jean-Michel; Komatsu, Masaaki; Kornberg, Andrew; Ryan, Monique; Laing, Nigel G; Ravenscroft, Gina Journal: Journal of medical genetics Issue: Volume 57:Issue 12(2020) Page Start: 835 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine. (24th July 2018) Authors: Cabrera-Serrano, Macarena; Mavillard, Fabiola; Biancalana, Valerie; Rivas, Eloy; Morar, Bharti; Hernández-Laín, Aurelio; Olive, Montse; Muelas, Nuria; Khan, Eduardo; Carvajal, Alejandra; Quiroga, Pablo; Diaz-Manera, Jordi; Davis, Mark; Ávila, Rainiero; Domínguez, Cristina; Romero, Norma Beatriz; ... Journal: Neurology Issue: Volume 91:Number 4(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy. Issue 1 (2nd January 2022) Authors: Martín-Aguilar, Lorena; Lleixà, Cinta; Pascual-Goñi, Elba; Caballero-Ávila, Marta; Martínez-Martínez, Laura; Díaz-Manera, Jordi; Rojas-García, Ricard; Cortés-Vicente, Elena; Turon-Sans, Janina; de Luna, Noemi; Suárez-Calvet, Xavier; Gallardo, Eduard; Rajabally, Yusuf; Scotton, Sangeeta; Jacobs, B... Journal: Neurology Issue: Volume 9:Issue 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy. Issue 1 (January 2022) Authors: Martín-Aguilar, Lorena; Lleixà, Cinta; Pascual-Goñi, Elba; Caballero-Ávila, Marta; Martínez-Martínez, Laura; Díaz-Manera, Jordi; Rojas-García, Ricard; Cortés-Vicente, Elena; Turon-Sans, Janina; de Luna, Noemi; Suárez-Calvet, Xavier; Gallardo, Eduard; Rajabally, Yusuf; Scotton, Sangeeta; Jacobs, B... Journal: Neurology Issue: Volume 9:Issue 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Recent advances in our understanding of genetic rhabdomyolysis. Issue 5 (8th October 2022) Authors: Cabrera-Serrano, Macarena; Ravenscroft, Gianina Journal: Current opinion in neurology Issue: Volume 35:Issue 5(2022) Page Start: 651 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP. Issue 1 (3rd September 2019) Authors: Sedghi, Maryam; Moslemi, Ali-Reza; Cabrera-Serrano, Macarena; Ansari, Behnaz; Ghasemi, Majid; Baktashian, Mojtaba; Fattahpour, Ali; Tajsharghi, Homa Journal: Brain communications Issue: Volume 1:Issue 1(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP. Issue 1 (3rd September 2019) Authors: Sedghi, Maryam; Moslemi, Ali-Reza; Cabrera-Serrano, Macarena; Ansari, Behnaz; Ghasemi, Majid; Baktashian, Mojtaba; Fattahpour, Ali; Tajsharghi, Homa Journal: Brain communications Issue: Volume 1:Issue 1(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP. Issue 1 (3rd September 2019) Authors: Sedghi, Maryam; Moslemi, Ali-Reza; Cabrera-Serrano, Macarena; Ansari, Behnaz; Ghasemi, Majid; Baktashian, Mojtaba; Fattahpour, Ali; Tajsharghi, Homa Journal: Brain communications Issue: Volume 1:Issue 1(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP. Issue 1 (3rd September 2019) Authors: Sedghi, Maryam; Moslemi, Ali-Reza; Cabrera-Serrano, Macarena; Ansari, Behnaz; Ghasemi, Majid; Baktashian, Mojtaba; Fattahpour, Ali; Tajsharghi, Homa Journal: Brain communications Issue: Volume 1:Issue 1(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP. Issue 1 (3rd September 2019) Authors: Sedghi, Maryam; Moslemi, Ali-Reza; Cabrera-Serrano, Macarena; Ansari, Behnaz; Ghasemi, Majid; Baktashian, Mojtaba; Fattahpour, Ali; Tajsharghi, Homa Journal: Brain communications Issue: Volume 1:Issue 1(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗