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Author/Creator Matalonga, Leslie

2. Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology. Issue 10 (17th May 2019)

Authors:
Tort, Frederic; Ugarteburu, Olatz; Texidó, Laura; Gea‐Sorlí, Sabrina; García‐Villoria, Judit; Ferrer‐Cortès, Xènia; Arias, Ángela; Matalonga, Leslie; Gort, Laura; Ferrer, Isidre; Guitart‐Mampel, Mariona; Garrabou, Glòria; Vaz, Frederick M; Pristoupilova, Ana; Rodríguez, María Isabel Esteban; Belt...
Journal:
Human mutation
Issue:
Volume 40:Issue 10(2019)
Page Start:
1700
Record Type:
Journal Article
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3. Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. Issue 2 (26th November 2016)

Authors:
Matalonga, Leslie; Bravo, Miren; Serra‐Peinado, Carla; García‐Pelegrí, Elisabeth; Ugarteburu, Olatz; Vidal, Silvia; Llambrich, Maria; Quintana, Ester; Fuster‐Jorge, Pedro; Gonzalez‐Bravo, Maria Nieves; Beltran, Sergi; Dopazo, Joaquin; Garcia‐Garcia, Francisco; Foulquier, François; Matthijs, Gert;...
Journal:
Human mutation
Issue:
Volume 38:Issue 2(2017)
Page Start:
148
Record Type:
Journal Article
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4. Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease. Issue 5 (22nd November 2012)

Authors:
Ferrer‐Cortès, Xènia; Font, Aida; Bujan, Núria; Navarro‐Sastre, Aleix; Matalonga, Leslie; Arranz, José Antonio; Riudor, Encarnació; del Toro, Mireia; Garcia‐Cazorla, Angels; Campistol, Jaume; Briones, Paz; Ribes, Antonia; Tort, Frederic
Journal:
Journal of inherited metabolic disease
Issue:
Volume 36:Issue 5(2013)
Page Start:
841
Record Type:
Journal Article
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5. Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial‐peroxisomal protein. Issue 7 (24th April 2017)

Authors:
Díez, H.; Cortès‐Saladelafont, E.; Ormazábal, A.; Marmiese, A. Fernández; Armstrong, J.; Matalonga, Leslie; Bravo, Miren; Briones, Paz; Emperador, Sonia; Montoya, Julio; Artuch, Rafael; Giros, Marisa; Garcia‐Cazorla, Àngels
Journal:
Movement disorders
Issue:
Volume 32:Issue 7(2017)
Page Start:
1108
Record Type:
Journal Article
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7. The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Issue 6 (20th May 2022)

Authors:
Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvó, Alberto; Fernández‐Callejo, Marcos; Garcia‐Linares, Carles; Hernandez‐Ferrer, Carles; Luengo, Cristina; Martínez, Inés; Papakonstantinou, Anastasios; Picó‐Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayés, Mònica; Bullic...
Other Names:
Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 6(2022)
Page Start:
717
Record Type:
Journal Article
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