Etiology
Saleh M,
Dib A,
Beaini S,
Saad C,
Faraj S,
El Joueid Y,
Kotob Y,
Saoudi L,
Emmanuel N
Neurol Sci
2023 Jun;44(6):1931-1947.
Epub 2023 Feb 24
doi: 10.1007/s10072-023-06680-5.
PMID: 36826455
Jordan JT,
Plotkin SR
Hematol Oncol Clin North Am
2022 Feb;36(1):253-267.
Epub 2021 Oct 27
doi: 10.1016/j.hoc.2021.08.010.
PMID: 34756486
Solares I,
Viñal D,
Morales-Conejo M,
Rodriguez-Salas N,
Feliu J
ESMO Open
2021 Aug;6(4):100223.
Epub 2021 Aug 10
doi: 10.1016/j.esmoop.2021.100223.
PMID: 34388689Free PMC Article
Miller DT,
Freedenberg D,
Schorry E,
Ullrich NJ,
Viskochil D,
Korf BR;
COUNCIL ON GENETICS;
AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS
Pediatrics
2019 May;143(5)
doi: 10.1542/peds.2019-0660.
PMID: 31010905
Cimino PJ,
Gutmann DH
Handb Clin Neurol
2018;148:799-811.
doi: 10.1016/B978-0-444-64076-5.00051-X.
PMID: 29478615
Diagnosis
Murphy L,
Andrawis M,
Beatty P,
Costa Blasco M,
Doyle C,
McFeely O,
O'Mahony S,
Wolinska A,
Connolly M
Clin Exp Dermatol
2023 Sep 19;48(10):1192-1193.
doi: 10.1093/ced/llad228.
PMID: 37403671
Saleh M,
Dib A,
Beaini S,
Saad C,
Faraj S,
El Joueid Y,
Kotob Y,
Saoudi L,
Emmanuel N
Neurol Sci
2023 Jun;44(6):1931-1947.
Epub 2023 Feb 24
doi: 10.1007/s10072-023-06680-5.
PMID: 36826455
Bhatti MT
Ophthalmology
2023 Aug;130(8):862.
Epub 2022 Oct 8
doi: 10.1016/j.ophtha.2022.09.001.
PMID: 36216646
Ly KI,
Blakeley JO
Med Clin North Am
2019 Nov;103(6):1035-1054.
doi: 10.1016/j.mcna.2019.07.004.
PMID: 31582003
Hirbe AC,
Gutmann DH
Lancet Neurol
2014 Aug;13(8):834-43.
doi: 10.1016/S1474-4422(14)70063-8.
PMID: 25030515
Therapy
Tamura R
Int J Mol Sci
2021 May 29;22(11)
doi: 10.3390/ijms22115850.
PMID: 34072574Free PMC Article
Wilson BN,
John AM,
Handler MZ,
Schwartz RA
J Am Acad Dermatol
2021 Jun;84(6):1667-1676.
Epub 2020 Aug 6
doi: 10.1016/j.jaad.2020.07.105.
PMID: 32771543
Cui XW,
Ren JY,
Gu YH,
Li QF,
Wang ZC
Curr Gene Ther
2020;20(2):100-108.
doi: 10.2174/1566523220666200806111451.
PMID: 32767931
Gross AM,
Wolters PL,
Dombi E,
Baldwin A,
Whitcomb P,
Fisher MJ,
Weiss B,
Kim A,
Bornhorst M,
Shah AC,
Martin S,
Roderick MC,
Pichard DC,
Carbonell A,
Paul SM,
Therrien J,
Kapustina O,
Heisey K,
Clapp DW,
Zhang C,
Peer CJ,
Figg WD,
Smith M,
Glod J,
Blakeley JO,
Steinberg SM,
Venzon DJ,
Doyle LA,
Widemann BC
N Engl J Med
2020 Apr 9;382(15):1430-1442.
Epub 2020 Mar 18
doi: 10.1056/NEJMoa1912735.
PMID: 32187457Free PMC Article
Hirbe AC,
Gutmann DH
Lancet Neurol
2014 Aug;13(8):834-43.
doi: 10.1016/S1474-4422(14)70063-8.
PMID: 25030515
Prognosis
Pikis S,
Mantziaris G,
Dumot C,
Xu Z,
Sheehan J
Neurosurg Clin N Am
2023 Jul;34(3):455-462.
Epub 2023 Apr 7
doi: 10.1016/j.nec.2023.02.010.
PMID: 37210134
Phillips D,
Auguste KI,
Gupta N
Handb Clin Neurol
2020;169:253-259.
doi: 10.1016/B978-0-12-804280-9.00016-0.
PMID: 32553293
Ferner RE,
Huson SM,
Thomas N,
Moss C,
Willshaw H,
Evans DG,
Upadhyaya M,
Towers R,
Gleeson M,
Steiger C,
Kirby A
J Med Genet
2007 Feb;44(2):81-8.
Epub 2006 Nov 14
doi: 10.1136/jmg.2006.045906.
PMID: 17105749Free PMC Article
Miettinen M,
Lasota J
Arch Pathol Lab Med
2006 Oct;130(10):1466-78.
doi: 10.5858/2006-130-1466-GSTROM.
PMID: 17090188
Frank-Stromborg M
Semin Oncol Nurs
1992 Nov;8(4):265-71.
doi: 10.1016/0749-2081(92)90039-6.
PMID: 1480857
Clinical prediction guides
Purdenko TI,
Delva MY,
Ostrovskaya LI,
Tarianyk KA,
Sylenko HY,
Pushko OO,
Purdenko SV
Wiad Lek
2022;75(5 pt 2):1408-1414.
doi: 10.36740/WLek202205231.
PMID: 35758466
Halliday D,
Parry A,
Evans DG
Curr Opin Oncol
2019 Nov;31(6):562-567.
doi: 10.1097/CCO.0000000000000579.
PMID: 31425178
Miettinen MM,
Antonescu CR,
Fletcher CDM,
Kim A,
Lazar AJ,
Quezado MM,
Reilly KM,
Stemmer-Rachamimov A,
Stewart DR,
Viskochil D,
Widemann B,
Perry A
Hum Pathol
2017 Sep;67:1-10.
Epub 2017 May 24
doi: 10.1016/j.humpath.2017.05.010.
PMID: 28551330Free PMC Article
Lam AK
Turk Patoloji Derg
2015;31 Suppl 1:105-12.
doi: 10.5146/tjpath.2015.01318.
PMID: 26177321
Bizzarri C,
Bottaro G
Horm Res Paediatr
2015;83(4):232-41.
Epub 2015 Feb 5
doi: 10.1159/000369802.
PMID: 25659607