Search Page
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 |
---|---|
2018 | 1 |
2019 | 1 |
2021 | 2 |
2022 | 2 |
2024 | 0 |
Search Results
6 results
Results by year
Filters applied: . Clear all
Page 1
Expanded phenotype of AARS1-related white matter disease.
Genet Med. 2021 Dec;23(12):2352-2359. doi: 10.1038/s41436-021-01286-8. Epub 2021 Aug 27.
Genet Med. 2021.
PMID: 34446925
Free article.
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofzik M, S…
See abstract for full author list ➔
Pelletier F, et al.
J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700.
J Clin Endocrinol Metab. 2021.
PMID: 33005949
Free PMC article.
Item in Clipboard
Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults.
Michell-Robinson MA, Perrier S, Lucia C, Tran LT, Thiffault I, Köhler W, Bernard G.
Michell-Robinson MA, et al.
Neurology. 2022 Apr 19;98(16):675-677. doi: 10.1212/WNL.0000000000200228. Epub 2022 Feb 21.
Neurology. 2022.
PMID: 35190466
Free PMC article.
No abstract available.
Item in Clipboard
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.
Macintosh J, Derksen A, Poulin C, Braverman N, Vanderver A, Thiffault I, Albrecht S, Bernard G.
Macintosh J, et al.
Neurogenetics. 2022 Apr;23(2):151-156. doi: 10.1007/s10048-022-00683-8. Epub 2022 Jan 31.
Neurogenetics. 2022.
PMID: 35099671
Free PMC article.
Item in Clipboard
POLR3A variants in hereditary spastic paraplegia and ataxia.
Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G.
Gauquelin L, et al.
Brain. 2018 Jan 1;141(1):e1. doi: 10.1093/brain/awx290.
Brain. 2018.
PMID: 29228109
Free PMC article.
No abstract available.
Item in Clipboard
Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200.
Choquet K, Forget D, Meloche E, Dicaire MJ, Bernard G, Vanderver A, Schiffmann R, Fabian MR, Teichmann M, Coulombe B, Brais B, Kleinman CL.
Choquet K, et al.
J Biol Chem. 2019 May 3;294(18):7445-7459. doi: 10.1074/jbc.RA118.006271. Epub 2019 Mar 21.
J Biol Chem. 2019.
PMID: 30898877
Free PMC article.
Item in Clipboard
Cite
Cite