| 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 : Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia - Toupenet_2021_Cells_10_ |
| Author(s) : Toupenet Marchesi L , Leblanc M , Stevanin G |
| Ref : Cells , 10 : , 2021 |
| Abstract : |
| PubMedSearch : Toupenet_2021_Cells_10_ |
| PubMedID: 34359848 |
| Title : Lipids in the Physiopathology of Hereditary Spastic Paraplegias - Darios_2020_Front.Neurosci_14_74 |
| Author(s) : Darios F , Mochel F , Stevanin G |
| Ref : Front Neurosci , 14 :74 , 2020 |
| Abstract : |
| PubMedSearch : Darios_2020_Front.Neurosci_14_74 |
| PubMedID: 32180696 |
| Title : Update on the Genetics of Spastic Paraplegias - Boutry_2019_Curr.Neurol.Neurosci.Rep_19_18 |
| Author(s) : Boutry M , Morais S , Stevanin G |
| Ref : Curr Neurol Neurosci Rep , 19 :18 , 2019 |
| Abstract : |
| PubMedSearch : Boutry_2019_Curr.Neurol.Neurosci.Rep_19_18 |
| PubMedID: 30820684 |
| 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 : Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance - Finsterer_2012_J.Neurol.Sci_318_1 |
| Author(s) : Finsterer J , Loscher W , Quasthoff S , Wanschitz J , Auer-Grumbach M , Stevanin G |
| Ref : Journal of Neurology Sci , 318 :1 , 2012 |
| Abstract : |
| PubMedSearch : Finsterer_2012_J.Neurol.Sci_318_1 |
| PubMedID: 22554690 |
| Gene_locus related to this paper: human-SPG21 |