Etiology
Devi G
Handb Clin Neurol
2023;196:251-265.
doi: 10.1016/B978-0-323-98817-9.00015-6.
PMID: 37620072
Braga J,
Neves F,
Costa J,
Meira D
Acta Med Port
2020 Oct 1;33(10):685-688.
doi: 10.20344/amp.11751.
PMID: 33135624
Emma F,
Salviati L
Nephrol Ther
2017 Apr;13 Suppl 1:S23-S28.
doi: 10.1016/j.nephro.2017.01.014.
PMID: 28577739
Juel VC,
Massey JM
Orphanet J Rare Dis
2007 Nov 6;2:44.
doi: 10.1186/1750-1172-2-44.
PMID: 17986328Free PMC Article
Miller MT,
Ray V,
Owens P,
Chen F
J Pediatr Ophthalmol Strabismus
1989 Jul-Aug;26(4):176-88.
doi: 10.3928/0191-3913-19890701-07.
PMID: 2668494
Diagnosis
Li CMF,
Kim DD,
Allen LH
JAMA Neurol
2024 Feb 1;81(2):190-191.
doi: 10.1001/jamaneurol.2023.5056.
PMID: 38190137
Devi G
Handb Clin Neurol
2023;196:251-265.
doi: 10.1016/B978-0-323-98817-9.00015-6.
PMID: 37620072
Yoshimi A,
Ishikawa K,
Niemeyer C,
Grünert SC
Orphanet J Rare Dis
2022 Oct 17;17(1):379.
doi: 10.1186/s13023-022-02538-9.
PMID: 36253820Free PMC Article
Braga J,
Neves F,
Costa J,
Meira D
Acta Med Port
2020 Oct 1;33(10):685-688.
doi: 10.20344/amp.11751.
PMID: 33135624
Al-Haidar M,
Benatar M,
Kaminski HJ
Neurol Clin
2018 May;36(2):241-251.
doi: 10.1016/j.ncl.2018.01.003.
PMID: 29655447
Therapy
Braga J,
Neves F,
Costa J,
Meira D
Acta Med Port
2020 Oct 1;33(10):685-688.
doi: 10.20344/amp.11751.
PMID: 33135624
Thakker R,
Mohanty A
Pediatr Neurosurg
2019;54(6):405-410.
Epub 2019 Oct 9
doi: 10.1159/000503088.
PMID: 31597144
Zanation A,
Fleischman D,
Chavala SH
JAMA
2013 Jun 12;309(22):2382-3.
doi: 10.1001/jama.2013.5517.
PMID: 23757086
Elston JS
J Neurol Neurosurg Psychiatry
1992 May;55(5):369-71.
doi: 10.1136/jnnp.55.5.369.
PMID: 1602309Free PMC Article
Moster ML,
Savino PJ,
Sergott RC,
Bosley TM,
Schatz NJ
Arch Ophthalmol
1984 Sep;102(9):1328-30.
doi: 10.1001/archopht.1984.01040031078029.
PMID: 6477251
Prognosis
Borja NA,
Zafeer MF,
Bivona S,
Peart L,
Gultekin SH;
Undiagnosed Diseases Network,
Bademci G,
Tekin M;
Undiagnosed Diseases Network NIH
J Med Genet
2025 Jan 27;62(2):117-122.
doi: 10.1136/jmg-2024-109908.
PMID: 39643435Free PMC Article
Devi G
Handb Clin Neurol
2023;196:251-265.
doi: 10.1016/B978-0-323-98817-9.00015-6.
PMID: 37620072
Yoshimi A,
Ishikawa K,
Niemeyer C,
Grünert SC
Orphanet J Rare Dis
2022 Oct 17;17(1):379.
doi: 10.1186/s13023-022-02538-9.
PMID: 36253820Free PMC Article
Chauhan K,
Soni D,
Sarkar D,
Karuna T,
Sharma B,
Singh S,
Karkhur S
Lancet
2021 Aug 21;398(10301):e10.
Epub 2021 Aug 4
doi: 10.1016/S0140-6736(21)01641-X.
PMID: 34363754Free PMC Article
Lenaers G,
Hamel C,
Delettre C,
Amati-Bonneau P,
Procaccio V,
Bonneau D,
Reynier P,
Milea D
Orphanet J Rare Dis
2012 Jul 9;7:46.
doi: 10.1186/1750-1172-7-46.
PMID: 22776096Free PMC Article
Clinical prediction guides
Borja NA,
Zafeer MF,
Bivona S,
Peart L,
Gultekin SH;
Undiagnosed Diseases Network,
Bademci G,
Tekin M;
Undiagnosed Diseases Network NIH
J Med Genet
2025 Jan 27;62(2):117-122.
doi: 10.1136/jmg-2024-109908.
PMID: 39643435Free PMC Article
Takamura H,
Nakayama Y,
Ito H,
Katayama T,
Fraser PE,
Matsuzaki S
Mol Neurobiol
2022 Jul;59(7):4419-4435.
Epub 2022 May 14
doi: 10.1007/s12035-022-02734-5.
PMID: 35567706Free PMC Article
Hayashi J,
Ohta S,
Kikuchi A,
Takemitsu M,
Goto Y,
Nonaka I
Proc Natl Acad Sci U S A
1991 Dec 1;88(23):10614-8.
doi: 10.1073/pnas.88.23.10614.
PMID: 1720544Free PMC Article
Trobe JD
Semin Neurol
1986 Jun;6(2):135-41.
doi: 10.1055/s-2008-1041456.
PMID: 3332417
Mizen TR,
Burde RM,
Klingele TG
Am J Ophthalmol
1985 Jul 15;100(1):65-7.
doi: 10.1016/s0002-9394(14)74984-0.
PMID: 4014381