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Chung WK

References (8)

Title : EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence - Gautheron_2021_Elife_10_
Author(s) : Gautheron J , Morisseau C , Chung WK , Zammouri J , Auclair M , Baujat G , Capel E , Moulin C , Wang Y , Yang J , Hammock BD , Cerame B , Phan F , Feve B , Vigouroux C , Andreelli F , Jeru I
Ref : Elife , 10 : , 2021
Abstract :
PubMedSearch : Gautheron_2021_Elife_10_
PubMedID: 34342583
Gene_locus related to this paper: human-EPHX1

Title : EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence - Gautheron_2021_Elife_10_
Author(s) : Gautheron J , Morisseau C , Chung WK , Zammouri J , Auclair M , Baujat G , Capel E , Moulin C , Wang Y , Yang J , Hammock BD , Cerame B , Phan F , Feve B , Vigouroux C , Andreelli F , Jeru I
Ref : Elife , 10 : , 2021
Abstract :
PubMedSearch : Gautheron_2021_Elife_10_
PubMedID: 34342583
Gene_locus related to this paper: human-EPHX1

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 : The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations - Lumish_2014_JIMD.Rep_16_75
Author(s) : Lumish HS , Yang Y , Xia F , Wilson A , Chung WK
Ref : JIMD Rep , 16 :75 , 2014
Abstract :
PubMedSearch : Lumish_2014_JIMD.Rep_16_75
PubMedID: 24997715
Gene_locus related to this paper: human-SERAC1

Title : The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations - Lumish_2014_JIMD.Rep_16_75
Author(s) : Lumish HS , Yang Y , Xia F , Wilson A , Chung WK
Ref : JIMD Rep , 16 :75 , 2014
Abstract :
PubMedSearch : Lumish_2014_JIMD.Rep_16_75
PubMedID: 24997715
Gene_locus related to this paper: human-SERAC1

Title : Intragenic deletion as a novel type of mutation in Wolman disease - Lee_2011_Mol.Genet.Metab_104_703
Author(s) : Lee TM , Welsh M , Benhamed S , Chung WK
Ref : Mol Genet Metab , 104 :703 , 2011
Abstract :
PubMedSearch : Lee_2011_Mol.Genet.Metab_104_703
PubMedID: 21963785

Title : Intragenic deletion as a novel type of mutation in Wolman disease - Lee_2011_Mol.Genet.Metab_104_703
Author(s) : Lee TM , Welsh M , Benhamed S , Chung WK
Ref : Mol Genet Metab , 104 :703 , 2011
Abstract :
PubMedSearch : Lee_2011_Mol.Genet.Metab_104_703
PubMedID: 21963785