Browsing by Author Houlden, Henry
Showing results 1 to 5 of 5
| 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 |
| 23-Jul-2020 | Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants | Neuray, Caroline; Maroofian, Reza; Scala, Marcello; Sultan, Tipu; Pai, Gurpur S.; Mojarrad, Majid; El Khashab, Heba; deHoll, Leigh; Yue, Wyatt; Alsaif, Hessa S.; Zanetti, Maria N.; Bello, Oscar; Person, Richard; Eslahi, Atieh; Khazaei, Zaynab; Feizabadi, Masoumeh H; Efthymiou, Stephanie; SYNaPS Study Group; El Bassyouni, Hala T.; Soliman, Doaa R.; Tekes, Selahattin; Ozer, Leyla; Baltaci, Volkan; Khan, Suliman; Beetz, Christian; Amr, Khalda S.; Salpietro, Vicenzo; Jamshidi, Yalda; Alkuraya, Fowzan S.; Houlden, Henry; Cormand Rifà, Bru |
| 14-Aug-2023 | Frequency and phenotypic spectrum of spinocerebellar ataxia <scp>27B</scp> and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia | Iruzubieta, Pablo; Pellerin, David; Bergareche, Alberto; Albajar, Inés; Mondragón, Elisabet; Vinagre, Ana; Fernández Torrón, Roberto; Moreno, Fermín; Equiza, Jon; Campo Caballero, David; Poza, Juan José; Ruibal, Marta; Formica, Alessandro; Dicaire, Marie Josée; Danzi, Matt C.; Zuchner, Stephan; Croitoru, Ioana; Ruiz, Montserrat; Schlüter, Agatha; Casasnovas, Carlos; Pujol, Aurora; Brais, Bernard; Houlden, Henry; López de Munain, Adolfo; Ruiz Martínez, Javier |
| 10-Nov-2020 | Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome | De Nittis, Pasquelena; Efthymiou. Sephanie; Sarre, Alexandre; Guex, Nicolas; Chrast, Jacqueline; Putoux, Audrey; Sultan, Tipu; Raza Alvi, Javeria; Ur Rahman, Zia; Zafar, Faisal; Rana, Nuzhat; Rahman, Fatima; Anwar, Najwa; Maqbool, Shazia; Zaki, Maha S.; Gleeson, Joseph G; Murphy, David; Galehdari, Hamid; Shariati, Gholamreza; Mazaheri, Neda; Sedaghat, Alireza; Lesca, Gaetan; Chatron, Nicolas; Salpietro, Vincenzo; Christoforou, Marilena; Houlden, Henry; Simonds, William F; Pedrazzini, Thierry; Maroofian, Reza; Reymond, Alexandre; Cormand Rifà, Bru; SYNAPS Study Group |
| 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. |