1. Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies. (9th March 2021) Authors: Natera-de Benito, Daniel; Foley, A. Reghan; Domínguez-González, Cristina; Ortez, Carlos; Jain, Minal; Mebrahtu, Aron; Donkervoort, Sandra; Hu, Ying; Fink, Margaret; Yun, Pomi; Ogata, Tracy; Medina, Julita; Vigo, Meritxell; Meilleur, Katherine G.; Leach, Meganne E.; Dastgir, Jahannaz; Díaz-Manera,... Journal: Neurology Issue: Volume 96:Number 10(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings. Issue 6 (14th March 2019) Authors: Carrera‐García, Laura; Natera‐de Benito, Daniel; Dieterich, Klaus; de la Banda, Marta G. G.; Felter, Adrien; Inarejos, Emili; Codina, Anna; Jou, Cristina; Roldan, Monica; Palau, Francesc; Hoenicka, Janet; Pijuan, Jordi; Ortez, Carlos; Expósito‐Escudero, Jessica; Durand, Chantal; Nugues, Frédériqu... Journal: American journal of medical genetics Issue: Volume 179:Issue 6(2019) Page Start: 915 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Chronic inflammatory demyelinating polyneuropathy associated with contactin-1 antibodies in a child. Issue 5 (September 2019) Authors: Carrera-García, Laura; Natera-de Benito, Daniel; Lleixà, Cinta; Ortez, Carlos; Colomer, Jaume; Nascimento, Andrés; Saiz, Albert; Dalmau, Josep; Querol, Luis; Armangué, Thaís Journal: Neurology Issue: Volume 6:Issue 5(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical presentation and proteomic signature of patients with TANGO2 mutations. Issue 2 (13th August 2019) Authors: Mingirulli, Nadja; Pyle, Angela; Hathazi, Denisa; Alston, Charlotte L.; Kohlschmidt, Nicolai; O'Grady, Gina; Waddell, Leigh; Evesson, Frances; Cooper, Sandra B. T.; Turner, Christian; Duff, Jennifer; Topf, Ana; Yubero, Delia; Jou, Cristina; Nascimento, Andrés; Ortez, Carlos; García‐Cazorla, Angel... Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 2(2020) Page Start: 297 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants. Issue 3 (18th January 2023) Authors: Natera‐de Benito, Daniel; Olival, Jonathan; Garcia‐Cabau, Carla; Jou, Cristina; Roldan, Mònica; Codina, Anna; Expósito‐Escudero, Jessica; Batlle, Cristina; Carrera‐García, Laura; Ortez, Carlos; Salvatella, Xavier; Palau, Francesc; Nascimento, Andrés; Hoenicka, Janet Journal: Annals of clinical and translational neurology Issue: Volume 10:Issue 3(2023) Page Start: 408 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Corrigendum to "Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen"[ Eur. J. Paediatr. Neurol. (2021) 92–101]. (March 2022) Authors: Carrera-García, Laura; Muchart, Jordi; Lazaro, Juan José; Expósito-Escudero, Jessica; Cuadras, Daniel; Medina, Julita; Bosch de Basea, Magda; Colomer, Jaume; Jimenez-Mallebrera, Cecilia; Ortez, Carlos; Benito, Daniel Natera-de; Nascimento, Andrés Journal: European journal of paediatric neurology Issue: Volume 37(2022) Page Start: 167 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Epilepsy in LAMA2‐related muscular dystrophy: An electro‐clinico‐radiological characterization. (8th April 2020) Authors: Natera‐de Benito, Daniel; Muchart, Jordi; Itzep, Debora; Ortez, Carlos; González‐Quereda, Lidia; Gallano, Pía; Ramirez, Alia; Aparicio, Javier; Domínguez‐Carral, Jana; Carrera‐García, Laura; Expósito‐Escudero, Jessica; Pardo Cardozo, Nathalia; Cuadras, Daniel; Codina, Anna; Jou, Cristina; Jimenez... Journal: Epilepsia Issue: Volume 61:issue 5(2020) Page Start: 971 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. Issue 6 (16th June 2015) Authors: Kölker, Stefan; Cazorla, Angeles Garcia; Valayannopoulos, Vassili; Lund, Allan M.; Burlina, Alberto B.; Sykut‐Cegielska, Jolanta; Wijburg, Frits A.; Teles, Elisa Leão; Zeman, Jiri; Dionisi‐Vici, Carlo; Barić, Ivo; Karall, Daniela; Augoustides‐Savvopoulou, Persephone; Aksglaede, Lise; Arnoux, Jean... Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 6(2015) Page Start: 1155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. Issue 6 (16th June 2015) Authors: Kölker, Stefan; Valayannopoulos, Vassili; Burlina, Alberto B.; Sykut‐Cegielska, Jolanta; Wijburg, Frits A.; Teles, Elisa Leão; Zeman, Jiri; Dionisi‐Vici, Carlo; Barić, Ivo; Karall, Daniela; Arnoux, Jean‐Baptiste; Avram, Paula; Baumgartner, Matthias R.; Blasco‐Alonso, Javier; Boy, S. P. Nikolas; R... Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 6(2015) Page Start: 1157 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Molecular characterization of congenital myasthenic syndromes in Spain. (June 2017) Authors: Natera-de Benito, Daniel; Topf, Ana; Dominguez-Carral, Jana; Vilchez, Juan Jesus; Diaz Manera, Jorge Alberto; Ortez, Carlos; Oferil, Jaume Colomer; Lochmuller, Hanns; Nascimento, Andres Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e222 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗