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Author/Creator Raspall-Chaure, Miquel

4. Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence. Issue 12 (30th August 2022)

Authors:
Verdura, Edgard; Senger, Bruno; Raspall-Chaure, Miquel; Schlüter, Agatha; Launay, Nathalie; Ruiz, Montserrat; Casasnovas, Carlos; Rodriguez-Palmero, Agustí; Macaya, Alfons; Becker, Hubert Dominique; Pujol, Aurora
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 12(2022)
Page Start:
1227
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study. (May 2018)

Authors:
Khaikin, Yannay; Sidky, Sarah; Abdenur, Jose; Anastasi, Arnaud; Ballhausen, Diana; Buoni, Sabrina; Chan, Alicia; Cheillan, David; Dorison, Nathalie; Goldenberg, Alice; Goldstein, Jennifer; Hofstede, Floris C.; Jacquemont, Marie-Line; Koeberl, Dwight D.; Lion-Francois, Laurence; Lund, Allan Meldga...
Journal:
European journal of paediatric neurology
Issue:
Volume 22:Number 3(2018:May)
Page Start:
369
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗