| Title : Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders - Liu_2024_Brain__ |
| Author(s) : Liu J , He Y , Lwin C , Han M , Guan B , Naik A , Bender C , Moore N , Huryn LA , Sergeev YV , Qian H , Zeng Y , Dong L , Liu P , Lei J , Haugen CJ , Prasov L , Shi R , Dollfus H , Aristodemou P , Laich Y , Nemeth AH , Taylor J , Downes S , Krawczynski MR , Meunier I , Strassberg M , Tenney J , Gao J , Shear MA , Moore AT , Duncan JL , Menendez B , Hull S , Vincent AL , Siskind CE , Traboulsi EI , Blackstone C , Sisk RA , Miraldi Utz V , Webster AR , Michaelides M , Arno G , Synofzik M , Hufnagel RB |
| Ref : Brain , : , 2024 |
| Abstract : |
| PubMedSearch : Liu_2024_Brain__ |
| PubMedID: 38735647 |
| Title : Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes - Wawrocka_2024_Int.J.Mol.Sci_25_ |
| Author(s) : Wawrocka A , Walczak-Sztulpa J , Kuszel L , Niedziela-Schwartz Z , Skorczyk-Werner A , Bernardczyk-Meller J , Krawczynski MR |
| Ref : Int J Mol Sci , 25 : , 2024 |
| Abstract : |
| PubMedSearch : Wawrocka_2024_Int.J.Mol.Sci_25_ |
| PubMedID: 38891946 |