1. Antisense‐mediated therapeutic pseudoexon skipping in TMEM165‐CDG. (22nd May 2014) Authors: Yuste‐Checa, P.; Medrano, C.; Gámez, A.; Desviat, L.R.; Matthijs, G.; Ugarte, M.; Pérez‐Cerdá, C.; Pérez, B. Journal: Clinical genetics Issue: Volume 87:Number 1(2015:Jan.) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I. (21st August 2013) Authors: Pérez‐Carro, R.; Sánchez‐Alcudia, R.; Pérez, B.; Navarrete, R.; Pérez‐Cerdá, C.; Ugarte, M.; Desviat, L.R. Journal: Clinical genetics Issue: Volume 86:Number 2(2014:Aug.) Page Start: 167 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies. (6th June 2014) Authors: Brasil, S.; Richard, E.; Jorge‐Finnigan, A.; Leal, F.; Merinero, B.; Banerjee, R.; Desviat, L.R.; Ugarte, M.; Pérez, B. Journal: Clinical genetics Issue: Volume 87:Number 6(2015:Jun.) Page Start: 576 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Pregnancy in a Methylmalonic Acidemia Patient With Kidney Transplantation: A Case Report. Issue 7 (24th May 2013) Authors: Lubrano, R.; Bellelli, E.; Gentile, I.; Paoli, S.; Carducci, C.; Carducci, C.; Santagata, S.; Pérez, B.; Ugarte, M.; Labriola, D.; Elli, M. Journal: American journal of transplantation Issue: Volume 13:Issue 7(2013) Page Start: 1918 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Protein misfolding diseases: Prospects of pharmacological treatment. Issue 3 (4th December 2017) Authors: Gámez, A.; Yuste‐Checa, P.; Brasil, S.; Briso‐Montiano, Á.; Desviat, L.R.; Ugarte, M.; Pérez‐Cerdá, C.; Pérez, B. Journal: Clinical genetics Issue: Volume 93:Issue 3(2018) Page Start: 450 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗