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Alhaddad B

References (4)

Title : MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy - Morsy_2026_Am.J.Hum.Genet__
Author(s) : Morsy H , Kim H , Jang G , Zaki MS , Severino M , Abdelrazek IM , Hussien H , Self E , Albaradie RS , Bakur K , Firoozfar Z , Efthymiou S , Noureldeen MM , Nabil A , Alvi JR , Molavi F , Alavi S , Alibakhshi R , Topcu V , Mancilar H , Uctepe E , Yesilyurt A , Aldhalaan H , Showki Tous ES , Alhaddad B , Elbendary HM , Scardamaglia A , Murphy D , Yepez VA , Gagneur J , Omar TI , Abd Elmaksoud M , Vandrovocova J , Abdalla E , Reilly MM , Sultan T , Alkuraya FS , Gleeson JG , Um JW , Houlden H , Ko J , Maroofian R
Ref : American Journal of Human Genetics , : , 2026
Abstract :
PubMedSearch : Morsy_2026_Am.J.Hum.Genet__
PubMedID: 41570816

Title : SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family - Roeben_2018_J.Med.Genet_55_39
Author(s) : Roeben B , Schule R , Ruf S , Bender B , Alhaddad B , Benkert T , Meitinger T , Reich S , Bohringer J , Langhans CD , Vaz FM , Wortmann SB , Marquardt T , Haack TB , Krageloh-Mann I , Schols L , Synofzik M
Ref : Journal of Medical Genetics , 55 :39 , 2018
Abstract :
PubMedSearch : Roeben_2018_J.Med.Genet_55_39
PubMedID: 28916646
Gene_locus related to this paper: human-SERAC1

Title : 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency - Rokicki_2017_Clin.Chim.Acta_471_95
Author(s) : Rokicki D , Pajdowska M , Trubicka J , Thong MK , Ciara E , Piekutowska-Abramczuk D , Pronicki M , Sikora R , Haidar R , Oltarzewski M , Jablonska E , Muthukumarasamy P , Sthaneswar P , Gan CS , Krajewska-Walasek M , Carrozzo R , Verrigni D , Semeraro M , Rizzo C , Taurisano R , Alhaddad B , Kovacs-Nagy R , Haack TB , Dionisi-Vici C , Pronicka E , Wortmann SB
Ref : Clinica Chimica Acta , 471 :95 , 2017
Abstract :
PubMedSearch : Rokicki_2017_Clin.Chim.Acta_471_95
PubMedID: 28526534

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