Search Results - "Bradley, Ted E J"

CACNA1B mutation is linked to unique myoclonus-dystonia syndrome by Groen, Justus L, Andrade, Arturo, Ritz, Katja, Jalalzadeh, Hamid, Haagmans, Martin, Bradley, Ted E J, Jongejan, Aldo, Verbeek, Dineke S, Nürnberg, Peter, Denome, Sylvia, Hennekam, Raoul C M, Lipscombe, Diane, Baas, Frank, Tijssen, Marina A J

“…Using exome sequencing and linkage analysis in a three-generation family with a unique dominant myoclonus-dystonia-like syndrome with cardiac arrhythmias, we…”
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Mutations in ZBTB20 cause Primrose syndrome by Cordeddu, Viviana, Redeker, Bert, Stellacci, Emilia, Jongejan, Aldo, Fragale, Alessandra, Bradley, Ted E J, Anselmi, Massimiliano, Ciolfi, Andrea, Cecchetti, Serena, Muto, Valentina, Bernardini, Laura, Azage, Meron, Carvalho, Daniel R, Espay, Alberto J, Male, Alison, Molin, Anna-Maja, Posmyk, Renata, Battisti, Carla, Casertano, Alberto, Melis, Daniela, van Kampen, Antoine, Baas, Frank, Mannens, Marcel M, Bocchinfuso, Gianfranco, Stella, Lorenzo, Tartaglia, Marco, Hennekam, Raoul C

“…Marco Tartaglia, Raoul Hennekam and colleagues show that de novo mutations in ZBTB20 cause Primrose syndrome, a disorder characterized by tall stature,…”
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Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis by Van Vught, Paul W.J, Van Wijk, Joost, Bradley, Ted E.J, Plasmans, Dagmar, Jakobs, Marja E, Veldink, Jan H, de Jong, J.M.B.Vianney, Van den Berg, Leonard H, Baas, Frank

“…Abstract Growth factors, such as ciliary neurotrophic factor (CNTF), have been implicated in neuronal survival and proliferation. About 2% of the human…”
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