1. 15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder. Issue 12 (14th November 2019) Authors: Chelban, Viorica; Wilson, Matthew P; Chardon, Jodi Warman; Vandrovcova, Jana; Natalia Zanetti, M; Zamba-Papanicolaou, Eleni; Efthymiou, Stephanie; Pope, Simon; Conte, Maria R; Abis, Giancarlo; Liu, Yo-Tsen; Tribollet, Eloise; Haridy, Nourelhoda A; Botía, Juan A; Ryten, Mina; Nicolaou, Paschalis; ... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 90:Issue 12(2019) Page Start: e4 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ITHANET: An Information and Database Community Portal for Hemoglobinopathies. (2nd November 2019) Authors: Stephanou, Coralea; Kountouris, Petros; Tamana, Stella; Minaidou, Anna; Lederer, Carsten W.; Kleanthous, Marina Journal: Hemoglobin Issue: Volume 43:Number 6(2019) Page Start: 363 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation. Issue 2 (1st July 2019) Authors: Chelban, Viorica; Wilson, Matthew P.; Warman Chardon, Jodi; Vandrovcova, Jana; Zanetti, M. Natalia; Zamba‐Papanicolaou, Eleni; Efthymiou, Stephanie; Pope, Simon; Conte, Maria R.; Abis, Giancarlo; Liu, Yo‐Tsen; Tribollet, Eloise; Haridy, Nourelhoda A.; Botía, Juan A.; Ryten, Mina; Nicolaou, Pascha... Other Names: Kriouile Yamna investigator.; Khorassani Mohamed El investigator.; Aguennouz Mhammed investigator.; Groppa Stanislav investigator.; Marinova Karashova Blagovesta investigator.; Van Maldergem Lionel investigator.; Nachbauer Wolfgang investigator.; Boesch Sylvia investigator.; Arning Larissa invest... Journal: Annals of neurology Issue: Volume 86:Issue 2(2019) Page Start: 225 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The ITHANET-Human Variome Project: Moving Functional Annotation Forward. (2nd November 2019) Authors: Kountouris, Petros; Stephanou, Coralea; Lederer, Carsten W.; Tamana, Stella; Minaidou, Anna; Xenophontos, Maria; Angastiniotis, Michael; Eleftheriou, Androulla; Zilfalil, Bin Alwi; Ramesar, Raj S.; Elion, Jacques; Robinson, Helen M.; Kleanthous, Marina Journal: Hemoglobin Issue: Volume 43:Number 6(2019) Page Start: 327 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗