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Houlden H

References (5)

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 : Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy - Wong_2021_Am.J.Hum.Genet_108_1301
Author(s) : Wong HH , Seet SH , Maier M , Gurel A , Traspas RM , Lee C , Zhang S , Talim B , Loh AYT , Chia CY , Teoh TS , Sng D , Rensvold J , Unal S , Shishkova E , Cepni E , Nathan FM , Sirota FL , Liang C , Yarali N , Simsek-Kiper PO , Mitani T , Ceylaner S , Arman-Bilir O , Mbarek H , Gumruk F , Efthymiou S , Ugurlu Ci Men D , Georgiadou D , Sotiropoulou K , Houlden H , Paul F , Pehlivan D , Laine C , Chai G , Ali NA , Choo SC , Keng SS , Boisson B , Yilmaz E , Xue S , Coon JJ , Ly TTN , Gilani N , Hasbini D , Kayserili H , Zaki MS , Isfort RJ , Ordonez N , Tripolszki K , Bauer P , Rezaei N , Seyedpour S , Khotaei GT , Bascom CC , Maroofian R , Chaabouni M , Alsubhi A , Eyaid W , Isikay S , Gleeson JG , Lupski JR , Casanova JL , Pagliarini DJ , Akarsu NA , Maurer-Stroh S , Cetinkaya A , Bertoli-Avella A , Mathuru AS , Ho L , Bard FA , Reversade B
Ref : American Journal of Human Genetics , 108 :1301 , 2021
Abstract :
PubMedSearch : Wong_2021_Am.J.Hum.Genet_108_1301
PubMedID: 34038740
Gene_locus related to this paper: human-cb069

Title : Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome - Donkervoort_2020_Am.J.Med.Genet.A_182_2272
Author(s) : Donkervoort S , Mohassel P , Laugwitz L , Zaki MS , Kamsteeg EJ , Maroofian R , Chao KR , Verschuuren-Bemelmans CC , Horber V , Fock AJM , McCarty RM , Jain MS , Biancavilla V , McMacken G , Nalls M , Voermans NC , Elbendary HM , Snyder M , Cai C , Lehky TJ , Stanley V , Iannaccone ST , Foley AR , Lochmuller H , Gleeson J , Houlden H , Haack TB , Horvath R , Bonnemann CG
Ref : American Journal of Medicine Genet A , 182 :2272 , 2020
Abstract :
PubMedSearch : Donkervoort_2020_Am.J.Med.Genet.A_182_2272
PubMedID: 32776697

Title : Genetic and phenotypic characterization of complex hereditary spastic paraplegia - Kara_2016_Brain_139_1904
Author(s) : Kara E , Tucci A , Manzoni C , Lynch DS , Elpidorou M , Bettencourt C , Chelban V , Manole A , Hamed SA , Haridy NA , Federoff M , Preza E , Hughes D , Pittman A , Jaunmuktane Z , Brandner S , Xiromerisiou G , Wiethoff S , Schottlaender L , Proukakis C , Morris H , Warner T , Bhatia KP , Korlipara LV , Singleton AB , Hardy J , Wood NW , Lewis PA , Houlden H
Ref : Brain , 139 :1904 , 2016
Abstract :
PubMedSearch : Kara_2016_Brain_139_1904
PubMedID: 27217339

Title : Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes - Hufnagel_2015_J.Med.Genet_52_85
Author(s) : Hufnagel RB , Arno G , Hein ND , Hersheson J , Prasad M , Anderson Y , Krueger LA , Gregory LC , Stoetzel C , Jaworek TJ , Hull S , Li A , Plagnol V , Willen CM , Morgan TM , Prows CA , Hegde RS , Riazuddin S , Grabowski GA , Richardson RJ , Dieterich K , Huang T , Revesz T , Martinez-Barbera JP , Sisk RA , Jefferies C , Houlden H , Dattani MT , Fink JK , Dollfus H , Moore AT , Ahmed ZM
Ref : Journal of Medical Genetics , 52 :85 , 2015
Abstract :
PubMedSearch : Hufnagel_2015_J.Med.Genet_52_85
PubMedID: 25480986