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Burlina A

References (5)

Title : PREPL deficiency: delineation of the phenotype and development of a functional blood assay - Regal_2018_Genet.Med_20_109
Author(s) : Regal L , Martensson E , Maystadt I , Voermans N , Lederer D , Burlina A , Juan Fita MJ , Hoogeboom AJM , Olsson Engman M , Hollemans T , Schouten M , Meulemans S , Jonson T , Francois I , Gil Ortega D , Kamsteeg EJ , Creemers JWM
Ref : Genet Med , 20 :109 , 2018
Abstract :
PubMedSearch : Regal_2018_Genet.Med_20_109
PubMedID: 28726805
Gene_locus related to this paper: human-PREPL

Title : Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases - Maas_2017_Ann.Neurol_82_1004
Author(s) : Maas RR , Iwanicka-Pronicka K , Kalkan Ucar S , Alhaddad B , AlSayed M , Al-Owain MA , Al-Zaidan HI , Balasubramaniam S , Baric I , Bubshait DK , Burlina A , Christodoulou J , Chung WK , Colombo R , Darin N , Freisinger P , Garcia Silva MT , Grunewald S , Haack TB , van Hasselt PM , Hikmat O , Horster F , Isohanni P , Ramzan K , Kovacs-Nagy R , Krumina Z , Martin-Hernandez E , Mayr JA , McClean P , de Meirleir L , Naess K , Ngu LH , Pajdowska M , Rahman S , Riordan G , Riley L , Roeben B , Rutsch F , Santer R , Schiff M , Seders M , Sequeira S , Sperl W , Staufner C , Synofzik M , Taylor RW , Trubicka J , Tsiakas K , Unal O , Wassmer E , Wedatilake Y , Wolff T , Prokisch H , Morava E , Pronicka E , Wevers RA , de Brouwer AP , Wortmann SB
Ref : Annals of Neurology , 82 :1004 , 2017
Abstract :
PubMedSearch : Maas_2017_Ann.Neurol_82_1004
PubMedID: 29205472
Gene_locus related to this paper: human-SERAC1

Title : Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome - Wortmann_2015_Neuropediatrics_46_98
Author(s) : Wortmann SB , van Hasselt PM , Baric I , Burlina A , Darin N , Horster F , Coker M , Ucar SK , Krumina Z , Naess K , Ngu LH , Pronicka E , Riordan G , Santer R , Wassmer E , Zschocke J , Schiff M , de Meirleir L , Alowain MA , Smeitink JA , Morava E , Kozicz T , Wevers RA , Wolf NI , Willemsen MA
Ref : Neuropediatrics , 46 :98 , 2015
Abstract :
PubMedSearch : Wortmann_2015_Neuropediatrics_46_98
PubMedID: 25642805
Gene_locus related to this paper: human-SERAC1

Title : Proceedings: Common biochemical features between acetylcholinesterase and butyrylcholinesterase -
Author(s) : Galzigna L , Deana R , Maina G , Burlina A
Ref : Quad Sclavo Diagn , 9 :233 , 1973
PubMedID: 4788712

Title : Proceedings: Common characteristics of arylesterase and butyrylcholinesterase -
Author(s) : Burlina A , Sorgato C , Galzigna L
Ref : Quad Sclavo Diagn , 9 :239 , 1973
PubMedID: 4788713