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Sequeira S

References (9)

Title : MEGDEL Syndrome: Expanding the Phenotype and New Mutations -
Author(s) : Sequeira S , Rodrigues M , Jacinto S , Wevers RA , Wortmann SB
Ref : Neuropediatrics , 48 :382 , 2017
PubMedID: 28505671
Gene_locus related to this paper: human-SERAC1

Title : MEGDEL Syndrome: Expanding the Phenotype and New Mutations -
Author(s) : Sequeira S , Rodrigues M , Jacinto S , Wevers RA , Wortmann SB
Ref : Neuropediatrics , 48 :382 , 2017
PubMedID: 28505671
Gene_locus related to this paper: human-SERAC1

Title : MEGDEL Syndrome: Expanding the Phenotype and New Mutations -
Author(s) : Sequeira S , Rodrigues M , Jacinto S , Wevers RA , Wortmann SB
Ref : Neuropediatrics , 48 :382 , 2017
PubMedID: 28505671
Gene_locus related to this paper: human-SERAC1

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 : 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 : 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 : Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect - Wortmann_2014_JIMD.Rep_16_1
Author(s) : Wortmann SB , Kluijtmans LA , Sequeira S , Wevers RA , Morava E
Ref : JIMD Rep , 16 :1 , 2014
Abstract :
PubMedSearch : Wortmann_2014_JIMD.Rep_16_1
PubMedID: 24757000

Title : Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect - Wortmann_2014_JIMD.Rep_16_1
Author(s) : Wortmann SB , Kluijtmans LA , Sequeira S , Wevers RA , Morava E
Ref : JIMD Rep , 16 :1 , 2014
Abstract :
PubMedSearch : Wortmann_2014_JIMD.Rep_16_1
PubMedID: 24757000

Title : Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect - Wortmann_2014_JIMD.Rep_16_1
Author(s) : Wortmann SB , Kluijtmans LA , Sequeira S , Wevers RA , Morava E
Ref : JIMD Rep , 16 :1 , 2014
Abstract :
PubMedSearch : Wortmann_2014_JIMD.Rep_16_1
PubMedID: 24757000