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
Nix JS,
Blakeley J,
Rodriguez FJ
Acta Neuropathol
2020 Apr;139(4):625-641.
Epub 2019 Apr 8
doi: 10.1007/s00401-019-02002-2.
PMID: 30963251Free PMC Article
Gutmann DH,
Ferner RE,
Listernick RH,
Korf BR,
Wolters PL,
Johnson KJ
Nat Rev Dis Primers
2017 Feb 23;3:17004.
doi: 10.1038/nrdp.2017.4.
PMID: 28230061
Sabbagh A,
Pasmant E,
Imbard A,
Luscan A,
Soares M,
Blanché H,
Laurendeau I,
Ferkal S,
Vidaud M,
Pinson S,
Bellanné-Chantelot C,
Vidaud D,
Parfait B,
Wolkenstein P
Hum Mutat
2013 Nov;34(11):1510-8.
Epub 2013 Aug 26
doi: 10.1002/humu.22392.
PMID: 23913538
Fahsold R,
Hoffmeyer S,
Mischung C,
Gille C,
Ehlers C,
Kücükceylan N,
Abdel-Nour M,
Gewies A,
Peters H,
Kaufmann D,
Buske A,
Tinschert S,
Nürnberg P
Am J Hum Genet
2000 Mar;66(3):790-818.
doi: 10.1086/302809.
PMID: 10712197Free PMC Article
Diagnosis
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
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
Gutmann DH,
Ferner RE,
Listernick RH,
Korf BR,
Wolters PL,
Johnson KJ
Nat Rev Dis Primers
2017 Feb 23;3:17004.
doi: 10.1038/nrdp.2017.4.
PMID: 28230061
Sabbagh A,
Pasmant E,
Imbard A,
Luscan A,
Soares M,
Blanché H,
Laurendeau I,
Ferkal S,
Vidaud M,
Pinson S,
Bellanné-Chantelot C,
Vidaud D,
Parfait B,
Wolkenstein P
Hum Mutat
2013 Nov;34(11):1510-8.
Epub 2013 Aug 26
doi: 10.1002/humu.22392.
PMID: 23913538
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
Abramov D,
Guiberson NGL,
Burré J
J Neurochem
2021 Apr;157(2):165-178.
Epub 2020 Aug 4
doi: 10.1111/jnc.15120.
PMID: 32643187Free PMC Article
Cui XW,
Ren JY,
Gu YH,
Li QF,
Wang ZC
Curr Gene Ther
2020;20(2):100-108.
doi: 10.2174/1566523220666200806111451.
PMID: 32767931
Hayward NK,
Wilmott JS,
Waddell N,
Johansson PA,
Field MA,
Nones K,
Patch AM,
Kakavand H,
Alexandrov LB,
Burke H,
Jakrot V,
Kazakoff S,
Holmes O,
Leonard C,
Sabarinathan R,
Mularoni L,
Wood S,
Xu Q,
Waddell N,
Tembe V,
Pupo GM,
De Paoli-Iseppi R,
Vilain RE,
Shang P,
Lau LMS,
Dagg RA,
Schramm SJ,
Pritchard A,
Dutton-Regester K,
Newell F,
Fitzgerald A,
Shang CA,
Grimmond SM,
Pickett HA,
Yang JY,
Stretch JR,
Behren A,
Kefford RF,
Hersey P,
Long GV,
Cebon J,
Shackleton M,
Spillane AJ,
Saw RPM,
López-Bigas N,
Pearson JV,
Thompson JF,
Scolyer RA,
Mann GJ
Nature
2017 May 11;545(7653):175-180.
Epub 2017 May 3
doi: 10.1038/nature22071.
PMID: 28467829
Prognosis
Lucas CG,
Sloan EA,
Gupta R,
Wu J,
Pratt D,
Vasudevan HN,
Ravindranathan A,
Barreto J,
Williams EA,
Shai A,
Whipple NS,
Bruggers CS,
Maher O,
Nabors B,
Rodriguez M,
Samuel D,
Brown M,
Carmichael J,
Lu R,
Mirchia K,
Sullivan DV,
Pekmezci M,
Tihan T,
Bollen AW,
Perry A,
Banerjee A,
Mueller S,
Gupta N,
Hervey-Jumper SL,
Oberheim Bush NA,
Daras M,
Taylor JW,
Butowski NA,
de Groot J,
Clarke JL,
Raleigh DR,
Costello JF,
Phillips JJ,
Reddy AT,
Chang SM,
Berger MS,
Solomon DA
Acta Neuropathol
2022 Oct;144(4):747-765.
Epub 2022 Aug 9
doi: 10.1007/s00401-022-02478-5.
PMID: 35945463Free PMC Article
Eoli M,
Saletti V,
Finocchiaro G
Curr Opin Oncol
2019 Nov;31(6):554-561.
doi: 10.1097/CCO.0000000000000576.
PMID: 31436563
Fangusaro J,
Onar-Thomas A,
Young Poussaint T,
Wu S,
Ligon AH,
Lindeman N,
Banerjee A,
Packer RJ,
Kilburn LB,
Goldman S,
Pollack IF,
Qaddoumi I,
Jakacki RI,
Fisher PG,
Dhall G,
Baxter P,
Kreissman SG,
Stewart CF,
Jones DTW,
Pfister SM,
Vezina G,
Stern JS,
Panigrahy A,
Patay Z,
Tamrazi B,
Jones JY,
Haque SS,
Enterline DS,
Cha S,
Fisher MJ,
Doyle LA,
Smith M,
Dunkel IJ,
Fouladi M
Lancet Oncol
2019 Jul;20(7):1011-1022.
Epub 2019 May 28
doi: 10.1016/S1470-2045(19)30277-3.
PMID: 31151904Free PMC Article
Verhaak RG,
Hoadley KA,
Purdom E,
Wang V,
Qi Y,
Wilkerson MD,
Miller CR,
Ding L,
Golub T,
Mesirov JP,
Alexe G,
Lawrence M,
O'Kelly M,
Tamayo P,
Weir BA,
Gabriel S,
Winckler W,
Gupta S,
Jakkula L,
Feiler HS,
Hodgson JG,
James CD,
Sarkaria JN,
Brennan C,
Kahn A,
Spellman PT,
Wilson RK,
Speed TP,
Gray JW,
Meyerson M,
Getz G,
Perou CM,
Hayes DN;
Cancer Genome Atlas Research Network
Cancer Cell
2010 Jan 19;17(1):98-110.
doi: 10.1016/j.ccr.2009.12.020.
PMID: 20129251Free PMC Article
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
Clinical prediction guides
Fangusaro J,
Onar-Thomas A,
Young Poussaint T,
Wu S,
Ligon AH,
Lindeman N,
Banerjee A,
Packer RJ,
Kilburn LB,
Goldman S,
Pollack IF,
Qaddoumi I,
Jakacki RI,
Fisher PG,
Dhall G,
Baxter P,
Kreissman SG,
Stewart CF,
Jones DTW,
Pfister SM,
Vezina G,
Stern JS,
Panigrahy A,
Patay Z,
Tamrazi B,
Jones JY,
Haque SS,
Enterline DS,
Cha S,
Fisher MJ,
Doyle LA,
Smith M,
Dunkel IJ,
Fouladi M
Lancet Oncol
2019 Jul;20(7):1011-1022.
Epub 2019 May 28
doi: 10.1016/S1470-2045(19)30277-3.
PMID: 31151904Free PMC Article
Okuno Y,
Murata T,
Sato Y,
Muramatsu H,
Ito Y,
Watanabe T,
Okuno T,
Murakami N,
Yoshida K,
Sawada A,
Inoue M,
Kawa K,
Seto M,
Ohshima K,
Shiraishi Y,
Chiba K,
Tanaka H,
Miyano S,
Narita Y,
Yoshida M,
Goshima F,
Kawada JI,
Nishida T,
Kiyoi H,
Kato S,
Nakamura S,
Morishima S,
Yoshikawa T,
Fujiwara S,
Shimizu N,
Isobe Y,
Noguchi M,
Kikuta A,
Iwatsuki K,
Takahashi Y,
Kojima S,
Ogawa S,
Kimura H
Nat Microbiol
2019 Mar;4(3):404-413.
Epub 2019 Jan 21
doi: 10.1038/s41564-018-0334-0.
PMID: 30664667
Philpott C,
Tovell H,
Frayling IM,
Cooper DN,
Upadhyaya M
Hum Genomics
2017 Jun 21;11(1):13.
doi: 10.1186/s40246-017-0109-3.
PMID: 28637487Free PMC Article
van Minkelen R,
van Bever Y,
Kromosoeto JN,
Withagen-Hermans CJ,
Nieuwlaat A,
Halley DJ,
van den Ouweland AM
Clin Genet
2014 Apr;85(4):318-27.
Epub 2013 Jun 25
doi: 10.1111/cge.12187.
PMID: 23656349
Legius E,
Descheemaeker MJ,
Fryns JP,
Van den Berghe H
Genet Couns
1994;5(3):225-41.
PMID: 7811422