| 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 : Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia - Rinaldi_2015_JAMA.Neurol_72_561 |
| Author(s) : Rinaldi C , Schmidt T , Situ AJ , Johnson JO , Lee PR , Chen KL , Bott LC , Fado R , Harmison GH , Parodi S , Grunseich C , Renvoise B , Biesecker LG , De Michele G , Santorelli FM , Filla A , Stevanin G , Durr A , Brice A , Casals N , Traynor BJ , Blackstone C , Ulmer TS , Fischbeck KH |
| Ref : JAMA Neurol , 72 :561 , 2015 |
| Abstract : |
| PubMedSearch : Rinaldi_2015_JAMA.Neurol_72_561 |
| PubMedID: 25751282 |
| Title : Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders - Novarino_2014_Science_343_506 |
| Author(s) : Novarino G , Fenstermaker AG , Zaki MS , Hofree M , Silhavy JL , Heiberg AD , Abdellateef M , Rosti B , Scott E , Mansour L , Masri A , Kayserili H , Al-Aama JY , Abdel-Salam GMH , Karminejad A , Kara M , Kara B , Bozorgmehri B , Ben-Omran T , Mojahedi F , El Din Mahmoud IG , Bouslam N , Bouhouche A , Benomar A , Hanein S , Raymond L , Forlani S , Mascaro M , Selim L , Shehata N , Al-Allawi N , Bindu PS , Azam M , Gunel M , Caglayan A , Bilguvar K , Tolun A , Issa MY , Schroth J , Spencer EG , Rosti RO , Akizu N , Vaux KK , Johansen A , Koh AA , Megahed H , Durr A , Brice A , Stevanin G , Gabriel SB , Ideker T , Gleeson JG |
| Ref : Science , 343 :506 , 2014 |
| Abstract : |
| PubMedSearch : Novarino_2014_Science_343_506 |
| PubMedID: 24482476 |
| Title : Localization of the choline acetyltransferase (CHAT) gene to human chromosome 10 - Cohen-Haguenauer_1990_Genomics_6_374 |
| Author(s) : Cohen-Haguenauer O , Brice A , Berrard S , Nguyen VC , Mallet J , Frezal J |
| Ref : Genomics , 6 :374 , 1990 |
| Abstract : |
| PubMedSearch : Cohen-Haguenauer_1990_Genomics_6_374 |
| PubMedID: 2307477 |
| Title : Molecular genetic approach to the study of mammalian choline acetyltransferase - Berrard_1989_Brain.Res.Bull_22_147 |
| Author(s) : Berrard S , Brice A , Mallet J |
| Ref : Brain Research Bulletin , 22 :147 , 1989 |
| Abstract : |
| PubMedSearch : Berrard_1989_Brain.Res.Bull_22_147 |
| PubMedID: 2713713 |
| Title : Complete sequence of a cDNA encoding an active rat choline acetyltransferase: a tool to investigate the plasticity of cholinergic phenotype expression - Brice_1989_J.Neurosci.Res_23_266 |
| Author(s) : Brice A , Berrard S , Raynaud B , Ansieau S , Coppola T , Weber MJ , Mallet J |
| Ref : Journal of Neuroscience Research , 23 :266 , 1989 |
| Abstract : |
| PubMedSearch : Brice_1989_J.Neurosci.Res_23_266 |
| PubMedID: 2570161 |
| Title : cDNA cloning and complete sequence of porcine choline acetyltransferase: in vitro translation of the corresponding RNA yields an active protein - Berrard_1987_Proc.Natl.Acad.Sci.U.S.A_84_9280 |
| Author(s) : Berrard S , Brice A , Lottspeich F , Braun A , Barde YA , Mallet J |
| Ref : Proc Natl Acad Sci U S A , 84 :9280 , 1987 |
| Abstract : |
| PubMedSearch : Berrard_1987_Proc.Natl.Acad.Sci.U.S.A_84_9280 |
| PubMedID: 3480542 |