Browsing by Author Chelban, Viorica
Showing results 1 to 2 of 2
| Issue Date | Title | Author(s) |
|---|---|---|
| 5-Mar-2020 | Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification | Schottlaender, Lucia V.; Abeti, Rosella; Jaunmuktane, Zane; Macmillan, Carol; Chelban, Viorica; O'Callaghan, Benjamin; McKinley, John; Maroofian, Reza; Efthymiou, Stepanie; Athanasiou Fragkouli, Alkyoni; Forbes, Raeburn; Soutar, Marc P.M.; Livingston, John H.; Kalmar, Bernadett; Swayne, Orlando; Hotton, Gary; SYNAPS Study Group; Pittman, Alan; Mendes de Oliveira, João Ricardo; de Grandis, Maria; Richard Loendt, Angela; Launchbury, Francesca; Althonayan, Juri; McDonnell, Gavin; Carr, Aisling S.; Khan, Suliman; Beetz, Christian; Bisgin, Atil; Tug Bozdogan, Sevcan; Begtrup, Amber; Torti, Erin; Greensmith, Linda; Giunti, Paola; Morrison, Patrick J.; Brandner, Sebastian; Aurrand Lions, Michael; Houlden, Henry; Cormand Rifà, Bru |
| 1-Jul-2019 | PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation | Chelban, Viorica; Wilson, Matthew P.; Chardon, Jodi Warman; 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, Paschalis; Minaidou, Anna; Christodoulou, Kyproula; Kernohan, Kristin D.; Eaton, Alison; Osmond, Matthew; Ito, Yoko; Bourque, Pierre; Jepson, James E.C.; Bello, Oscar; Bremner, Fion; Cordivari, Carla; Reilly, Mary M.; Foiani, Martha; Heslegrave, Amanda; Zetterberg, Henrik; Heales, Simon J.R.; Wood, Nicholas W.; Rothman, James E.; Boycott, Kym M.; Mills, Philippa B.; Clayton, Peter T.; Houlden, Henry; Care4Rare Canada Consortium; the SYNaPS Study Group. |