Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2021 | 3 |
2022 | 1 |
2024 | 0 |
PubMed (cited) for id: 619735
3 results
Results by year
Filters applied: . Clear all
Page 1
A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face.
Clin Genet. 2022 Mar;101(3):359-363. doi: 10.1111/cge.14097. Epub 2021 Dec 13.
Clin Genet. 2022.
PMID: 34866177
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Lemire G, Ito YA, Marshall AE, Chrestian N, Stanley V, Brady L, Tarnopolsky M, Curry CJ, Hartley T, Mears W, Derksen A, Rioux N, Laflamme N, Hutchison HT, Pais LS, Zaki MS, Sultan T, Dane AD; Care4Rare Canada Consortium; Gleeson JG, Vaz FM, Kernohan KD, Bernard G, Boycott KM.
Lemire G, et al.
Am J Hum Genet. 2021 Oct 7;108(10):2017-2023. doi: 10.1016/j.ajhg.2021.09.005. Epub 2021 Sep 28.
Am J Hum Genet. 2021.
PMID: 34587489
Free PMC article.
Item in Clipboard
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.
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 AKMA, Elbashir MI, Brice A, Ibrahim ME, Ahmed AE, Lamari F, Stevanin G.
Yahia A, et al.
Front Neurol. 2021 Aug 20;12:720201. doi: 10.3389/fneur.2021.720201. eCollection 2021.
Front Neurol. 2021.
PMID: 34489854
Free PMC article.
Item in Clipboard
Cite
Cite