de Brouwer AP

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 : Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids - Wortmann_2015_J.Inherit.Metab.Dis_38_99

Author(s) : Wortmann SB , Espeel M , Almeida L , Reimer A , Bosboom D , Roels F , de Brouwer AP , Wevers RA

Ref : J Inherit Metab Dis , 38 :99 , 2015

Abstract :

PubMedSearch : Wortmann_2015_J.Inherit.Metab.Dis_38_99

PubMedID: 25178427

Title : Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids - Wortmann_2015_J.Inherit.Metab.Dis_38_99

Author(s) : Wortmann SB , Espeel M , Almeida L , Reimer A , Bosboom D , Roels F , de Brouwer AP , Wevers RA

Ref : J Inherit Metab Dis , 38 :99 , 2015

Abstract :

PubMedSearch : Wortmann_2015_J.Inherit.Metab.Dis_38_99

PubMedID: 25178427

Title : Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids - Wortmann_2015_J.Inherit.Metab.Dis_38_99

Author(s) : Wortmann SB , Espeel M , Almeida L , Reimer A , Bosboom D , Roels F , de Brouwer AP , Wevers RA

Ref : J Inherit Metab Dis , 38 :99 , 2015

Abstract :

PubMedSearch : Wortmann_2015_J.Inherit.Metab.Dis_38_99

PubMedID: 25178427

Title : Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness - Wortmann_2012_Nat.Genet_44_797

Author(s) : Wortmann SB , Vaz FM , Gardeitchik T , Vissers LE , Renkema GH , Schuurs-Hoeijmakers JH , Kulik W , Lammens M , Christin C , Kluijtmans LA , Rodenburg RJ , Nijtmans LG , Grunewald A , Klein C , Gerhold JM , Kozicz T , van Hasselt PM , Harakalova M , Kloosterman W , Baric I , Pronicka E , Ucar SK , Naess K , Singhal KK , Krumina Z , Gilissen C , van Bokhoven H , Veltman JA , Smeitink JA , Lefeber DJ , Spelbrink JN , Wevers RA , Morava E , de Brouwer AP

Ref : Nat Genet , 44 :797 , 2012

Abstract :

PubMedSearch : Wortmann_2012_Nat.Genet_44_797

PubMedID: 22683713

Gene_locus related to this paper: human-SERAC1

Title : Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness - Wortmann_2012_Nat.Genet_44_797

Author(s) : Wortmann SB , Vaz FM , Gardeitchik T , Vissers LE , Renkema GH , Schuurs-Hoeijmakers JH , Kulik W , Lammens M , Christin C , Kluijtmans LA , Rodenburg RJ , Nijtmans LG , Grunewald A , Klein C , Gerhold JM , Kozicz T , van Hasselt PM , Harakalova M , Kloosterman W , Baric I , Pronicka E , Ucar SK , Naess K , Singhal KK , Krumina Z , Gilissen C , van Bokhoven H , Veltman JA , Smeitink JA , Lefeber DJ , Spelbrink JN , Wevers RA , Morava E , de Brouwer AP

Ref : Nat Genet , 44 :797 , 2012

Abstract :

PubMedSearch : Wortmann_2012_Nat.Genet_44_797

PubMedID: 22683713

Gene_locus related to this paper: human-SERAC1

Title : Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness - Wortmann_2012_Nat.Genet_44_797

Author(s) : Wortmann SB , Vaz FM , Gardeitchik T , Vissers LE , Renkema GH , Schuurs-Hoeijmakers JH , Kulik W , Lammens M , Christin C , Kluijtmans LA , Rodenburg RJ , Nijtmans LG , Grunewald A , Klein C , Gerhold JM , Kozicz T , van Hasselt PM , Harakalova M , Kloosterman W , Baric I , Pronicka E , Ucar SK , Naess K , Singhal KK , Krumina Z , Gilissen C , van Bokhoven H , Veltman JA , Smeitink JA , Lefeber DJ , Spelbrink JN , Wevers RA , Morava E , de Brouwer AP

Ref : Nat Genet , 44 :797 , 2012

Abstract :

PubMedSearch : Wortmann_2012_Nat.Genet_44_797

PubMedID: 22683713

Gene_locus related to this paper: human-SERAC1

de Brouwer AP

References (9)

1. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases - Maas_2017_Ann.Neurol_82_1004

2. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases - Maas_2017_Ann.Neurol_82_1004

3. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases - Maas_2017_Ann.Neurol_82_1004

4. Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids - Wortmann_2015_J.Inherit.Metab.Dis_38_99

5. Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids - Wortmann_2015_J.Inherit.Metab.Dis_38_99

6. Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids - Wortmann_2015_J.Inherit.Metab.Dis_38_99

7. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness - Wortmann_2012_Nat.Genet_44_797

8. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness - Wortmann_2012_Nat.Genet_44_797

9. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness - Wortmann_2012_Nat.Genet_44_797