| Title : Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia - Yahia_2021_Front.Neurol_12_720201 |
| Author(s) : Yahia A , Elsayed LEO , Valter R , Hamed AAA , Mohammed IN , Elseed MA , Salih MA , Esteves T , Auger N , Abubaker R , Koko M , Abozar F , Malik H , Adil R , Emad S , Musallam MA , Idris R , Eltazi IZM , Babai A , Ahmed EAA , Abd Allah ASI , Mairey M , Ahmed A , Elbashir MI , Brice A , Ibrahim ME , Ahmed AE , Lamari F , Stevanin G |
| Ref : Front Neurol , 12 :720201 , 2021 |
| Abstract : |
| PubMedSearch : Yahia_2021_Front.Neurol_12_720201 |
| PubMedID: 34489854 |
| Gene_locus related to this paper: human-ABHD16A |
| Title : Autozygome and high throughput confirmation of disease genes candidacy - Maddirevula_2019_Genet.Med_21_736 |
| Author(s) : Maddirevula S , Alzahrani F , Al-Owain M , Al Muhaizea MA , Kayyali HR , AlHashem A , Rahbeeni Z , Al-Otaibi M , Alzaidan HI , Balobaid A , El Khashab HY , Bubshait DK , Faden M , Yamani SA , Dabbagh O , Al-Mureikhi M , Jasser AA , Alsaif HS , Alluhaydan I , Seidahmed MZ , Alabbasi BH , Almogarri I , Kurdi W , Akleh H , Qari A , Al Tala SM , Alhomaidi S , Kentab AY , Salih MA , Chedrawi A , Alameer S , Tabarki B , Shamseldin HE , Patel N , Ibrahim N , Abdulwahab F , Samira M , Goljan E , Abouelhoda M , Meyer BF , Hashem M , Shaheen R , AlShahwan S , Alfadhel M , Ben-Omran T , Al-Qattan MM , Monies D , Alkuraya FS |
| Ref : Genet Med , 21 :736 , 2019 |
| Abstract : |
| PubMedSearch : Maddirevula_2019_Genet.Med_21_736 |
| PubMedID: 30237576 |
| Title : Congenital myasthenic syndromes due to mutations in ALG2 and ALG14 - Cossins_2013_Brain_136_944 |
| Author(s) : Cossins J , Belaya K , Hicks D , Salih MA , Finlayson S , Carboni N , Liu WW , Maxwell S , Zoltowska K , Farsani GT , Laval S , Seidhamed MZ , Donnelly P , Bentley D , McGowan SJ , Muller J , Palace J , Lochmuller H , Beeson D |
| Ref : Brain , 136 :944 , 2013 |
| Abstract : |
| PubMedSearch : Cossins_2013_Brain_136_944 |
| PubMedID: 23404334 |
| Title : Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes - |
| Author(s) : Mihaylova V , Salih MA , Mukhtar MM , Abuzeid HA , El-Sadig SM , von der Hagen M , Huebner A , Nurnberg G , Abicht A , Muller JS , Lochmuller H , Guergueltcheva V |
| Ref : Neurology , 73 :1926 , 2009 |
| PubMedID: 19949040 |
| Title : Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes - Mihaylova_2008_Brain_131_747 |
| Author(s) : Mihaylova V , Muller JS , Vilchez JJ , Salih MA , Kabiraj MM , D'Amico A , Bertini E , Wolfle J , Schreiner F , Kurlemann G , Rasic VM , Siskova D , Colomer J , Herczegfalvi A , Fabriciova K , Weschke B , Scola R , Hoellen F , Schara U , Abicht A , Lochmuller H |
| Ref : Brain , 131 :747 , 2008 |
| Abstract : |
| PubMedSearch : Mihaylova_2008_Brain_131_747 |
| PubMedID: 18180250 |