Publicaties in de kijker

Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease
Geuens Thomas   De Winter Vicky   Rajan Nicholas   Achsel Tilmann   Mateiu Ligia   de Almeida Souza Leonardo   Asselbergh Bob   Bouhy Delphine   Auer-Grumbach Michaela   Bagni Claudia   Timmerman Vincent  
Acta neuropathologica communications - ISSN 2051-5960-5 (2017)
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Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy
Atkinson Derek   Nikodinovic Glumac J.   Asselbergh Bob   Ermanoska Biljana   Blocquel D.   Steiner D.   Estrada-Cuzcano A.   Peeters Kristien   Ooms Tinne   De Vriendt Els   Yang X.L.   Hornemann T.   Milic Rasic V.   Jordanova Albena   Glumac Jelena Nikodinovic   Blocquel David   Steiner Regula   Estrada-Cuzcano Alejandro   Yang Xiang-Lei   Hornemann Thorsten   Rasic Vedrana Milic  
Neurology - ISSN 1526-632X-88:6 (2017) p. 533-542
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Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations
Muys Joke   Blaumeiser Bettina   Jacquemyn Yves   Janssens Katrien  
Clinical Case Reports - ISSN 2050-0904-5:4 (2017) p. 440-445
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Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies
Brison Nathalie   Van Den Bogaert Kris   Dehaspe Luc   van den Oever Jessica M. E.   Janssens Katrien   Blaumeiser Bettina   Peeters Hilde   Van Esch Hilde   Van Buggenhout Griet   Vogels Annick   de Ravel Thomy   Legius Eric   Devriendt Koen   Vermeesch Joris R.  
Genetics in medicine - ISSN 1098-3600-19:3 (2017) p. 306-313
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Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)
Estrada-Cuzcano Alejandro   Martin Shaun   Chamova Teodora   Synofzik Matthis   Timmann Dagmar   Holemans Tine   Andreeva Albena   Reichbauer Jennifer   De Rycke Riet   Chang Dae-In   van Veen Sarah   Samuel Jean   Schoels Ludger   Poppel Thorsten   Sorensen Danny Mollerup   Asselbergh Bob   Klein Christine   Zuchner Stephan   Jordanova Albena   Vangheluwe Peter   Tournev Ivailo   Schule Rebecca  
Brain - ISSN 0006-8950-140:2 (2017) p. 287-305
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