Etiology
Garcia-Manero G,
McCloskey J,
Griffiths EA,
Yee KWL,
Zeidan AM,
Al-Kali A,
Deeg HJ,
Patel PA,
Sabloff M,
Keating MM,
Zhu N,
Gabrail NY,
Fazal S,
Maly J,
Odenike O,
Kantarjian H,
DeZern AE,
O'Connell CL,
Roboz GJ,
Busque L,
Buckstein R,
Amin H,
Randhawa J,
Leber B,
Shastri A,
Dao KH,
Oganesian A,
Hao Y,
Keer HN,
Azab M,
Savona MR
Lancet Haematol
2024 Jan;11(1):e15-e26.
doi: 10.1016/S2352-3026(23)00338-1.
PMID: 38135371
DiNardo CD,
Jonas BA,
Pullarkat V,
Thirman MJ,
Garcia JS,
Wei AH,
Konopleva M,
Döhner H,
Letai A,
Fenaux P,
Koller E,
Havelange V,
Leber B,
Esteve J,
Wang J,
Pejsa V,
Hájek R,
Porkka K,
Illés Á,
Lavie D,
Lemoli RM,
Yamamoto K,
Yoon SS,
Jang JH,
Yeh SP,
Turgut M,
Hong WJ,
Zhou Y,
Potluri J,
Pratz KW
N Engl J Med
2020 Aug 13;383(7):617-629.
doi: 10.1056/NEJMoa2012971.
PMID: 32786187
Maron DJ,
Hochman JS,
Reynolds HR,
Bangalore S,
O'Brien SM,
Boden WE,
Chaitman BR,
Senior R,
López-Sendón J,
Alexander KP,
Lopes RD,
Shaw LJ,
Berger JS,
Newman JD,
Sidhu MS,
Goodman SG,
Ruzyllo W,
Gosselin G,
Maggioni AP,
White HD,
Bhargava B,
Min JK,
Mancini GBJ,
Berman DS,
Picard MH,
Kwong RY,
Ali ZA,
Mark DB,
Spertus JA,
Krishnan MN,
Elghamaz A,
Moorthy N,
Hueb WA,
Demkow M,
Mavromatis K,
Bockeria O,
Peteiro J,
Miller TD,
Szwed H,
Doerr R,
Keltai M,
Selvanayagam JB,
Steg PG,
Held C,
Kohsaka S,
Mavromichalis S,
Kirby R,
Jeffries NO,
Harrell FE Jr,
Rockhold FW,
Broderick S,
Ferguson TB Jr,
Williams DO,
Harrington RA,
Stone GW,
Rosenberg Y;
ISCHEMIA Research Group
N Engl J Med
2020 Apr 9;382(15):1395-1407.
Epub 2020 Mar 30
doi: 10.1056/NEJMoa1915922.
PMID: 32227755Free PMC Article
Yu-Wai-Man P,
Votruba M,
Burté F,
La Morgia C,
Barboni P,
Carelli V
Acta Neuropathol
2016 Dec;132(6):789-806.
Epub 2016 Sep 30
doi: 10.1007/s00401-016-1625-2.
PMID: 27696015Free PMC Article
Tranchant C,
Anheim M
Rev Neurol (Paris)
2016 Aug-Sep;172(8-9):524-529.
Epub 2016 Jul 28
doi: 10.1016/j.neurol.2016.07.003.
PMID: 27476418
Diagnosis
Zibold J,
von Livonius B,
Kolarova H,
Rudolph G,
Priglinger CS,
Klopstock T,
Catarino CB
Orphanet J Rare Dis
2022 Aug 9;17(1):310.
doi: 10.1186/s13023-022-02453-z.
PMID: 35945620Free PMC Article
Birnbaum FA,
Gospe SM 3rd
J Neuroophthalmol
2021 Dec 1;41(4):e715-e717.
doi: 10.1097/WNO.0000000000001151.
PMID: 33417421
Maron DJ,
Hochman JS,
Reynolds HR,
Bangalore S,
O'Brien SM,
Boden WE,
Chaitman BR,
Senior R,
López-Sendón J,
Alexander KP,
Lopes RD,
Shaw LJ,
Berger JS,
Newman JD,
Sidhu MS,
Goodman SG,
Ruzyllo W,
Gosselin G,
Maggioni AP,
White HD,
Bhargava B,
Min JK,
Mancini GBJ,
Berman DS,
Picard MH,
Kwong RY,
Ali ZA,
Mark DB,
Spertus JA,
Krishnan MN,
Elghamaz A,
Moorthy N,
Hueb WA,
Demkow M,
Mavromatis K,
Bockeria O,
Peteiro J,
Miller TD,
Szwed H,
Doerr R,
Keltai M,
Selvanayagam JB,
Steg PG,
Held C,
Kohsaka S,
Mavromichalis S,
Kirby R,
Jeffries NO,
Harrell FE Jr,
Rockhold FW,
Broderick S,
Ferguson TB Jr,
Williams DO,
Harrington RA,
Stone GW,
Rosenberg Y;
ISCHEMIA Research Group
N Engl J Med
2020 Apr 9;382(15):1395-1407.
Epub 2020 Mar 30
doi: 10.1056/NEJMoa1915922.
PMID: 32227755Free PMC Article
Tranchant C,
Anheim M
Rev Neurol (Paris)
2016 Aug-Sep;172(8-9):524-529.
Epub 2016 Jul 28
doi: 10.1016/j.neurol.2016.07.003.
PMID: 27476418
Thorburn DR,
Dahl HH
Am J Med Genet
2001 Spring;106(1):102-14.
doi: 10.1002/ajmg.1380.
PMID: 11579429
Therapy
Garcia-Manero G,
McCloskey J,
Griffiths EA,
Yee KWL,
Zeidan AM,
Al-Kali A,
Deeg HJ,
Patel PA,
Sabloff M,
Keating MM,
Zhu N,
Gabrail NY,
Fazal S,
Maly J,
Odenike O,
Kantarjian H,
DeZern AE,
O'Connell CL,
Roboz GJ,
Busque L,
Buckstein R,
Amin H,
Randhawa J,
Leber B,
Shastri A,
Dao KH,
Oganesian A,
Hao Y,
Keer HN,
Azab M,
Savona MR
Lancet Haematol
2024 Jan;11(1):e15-e26.
doi: 10.1016/S2352-3026(23)00338-1.
PMID: 38135371
Tubau-Juni N,
Bassaganya-Riera J,
Leber AJ,
Alva SS,
Hontecillas R
Inflamm Bowel Dis
2024 Jan 5;30(1):103-113.
doi: 10.1093/ibd/izad124.
PMID: 37436905
DiNardo CD,
Jonas BA,
Pullarkat V,
Thirman MJ,
Garcia JS,
Wei AH,
Konopleva M,
Döhner H,
Letai A,
Fenaux P,
Koller E,
Havelange V,
Leber B,
Esteve J,
Wang J,
Pejsa V,
Hájek R,
Porkka K,
Illés Á,
Lavie D,
Lemoli RM,
Yamamoto K,
Yoon SS,
Jang JH,
Yeh SP,
Turgut M,
Hong WJ,
Zhou Y,
Potluri J,
Pratz KW
N Engl J Med
2020 Aug 13;383(7):617-629.
doi: 10.1056/NEJMoa2012971.
PMID: 32786187
Maron DJ,
Hochman JS,
Reynolds HR,
Bangalore S,
O'Brien SM,
Boden WE,
Chaitman BR,
Senior R,
López-Sendón J,
Alexander KP,
Lopes RD,
Shaw LJ,
Berger JS,
Newman JD,
Sidhu MS,
Goodman SG,
Ruzyllo W,
Gosselin G,
Maggioni AP,
White HD,
Bhargava B,
Min JK,
Mancini GBJ,
Berman DS,
Picard MH,
Kwong RY,
Ali ZA,
Mark DB,
Spertus JA,
Krishnan MN,
Elghamaz A,
Moorthy N,
Hueb WA,
Demkow M,
Mavromatis K,
Bockeria O,
Peteiro J,
Miller TD,
Szwed H,
Doerr R,
Keltai M,
Selvanayagam JB,
Steg PG,
Held C,
Kohsaka S,
Mavromichalis S,
Kirby R,
Jeffries NO,
Harrell FE Jr,
Rockhold FW,
Broderick S,
Ferguson TB Jr,
Williams DO,
Harrington RA,
Stone GW,
Rosenberg Y;
ISCHEMIA Research Group
N Engl J Med
2020 Apr 9;382(15):1395-1407.
Epub 2020 Mar 30
doi: 10.1056/NEJMoa1915922.
PMID: 32227755Free PMC Article
Zakrzewski H,
Modabber M,
Wilson N,
Al-Hertani W,
Toffoli D
J Neuroophthalmol
2019 Jun;39(2):249-252.
doi: 10.1097/WNO.0000000000000753.
PMID: 30829945
Prognosis
Zibold J,
von Livonius B,
Kolarova H,
Rudolph G,
Priglinger CS,
Klopstock T,
Catarino CB
Orphanet J Rare Dis
2022 Aug 9;17(1):310.
doi: 10.1186/s13023-022-02453-z.
PMID: 35945620Free PMC Article
DiNardo CD,
Jonas BA,
Pullarkat V,
Thirman MJ,
Garcia JS,
Wei AH,
Konopleva M,
Döhner H,
Letai A,
Fenaux P,
Koller E,
Havelange V,
Leber B,
Esteve J,
Wang J,
Pejsa V,
Hájek R,
Porkka K,
Illés Á,
Lavie D,
Lemoli RM,
Yamamoto K,
Yoon SS,
Jang JH,
Yeh SP,
Turgut M,
Hong WJ,
Zhou Y,
Potluri J,
Pratz KW
N Engl J Med
2020 Aug 13;383(7):617-629.
doi: 10.1056/NEJMoa2012971.
PMID: 32786187
Cui S,
Yang L,
Jiang H,
Peng J,
Shang J,
Wang J,
Zhang X
J Neuroophthalmol
2020 Mar;40(1):30-36.
doi: 10.1097/WNO.0000000000000799.
PMID: 32045392
Ebersberger U,
Makowski MR,
Schoepf UJ,
Platz U,
Schmidtler F,
Rose J,
Kessel A,
Roth P,
Antoni D,
Schnackenburg B,
Helmberger T,
Rieber J,
Hoffmann E,
Leber AW
Eur Heart J Cardiovasc Imaging
2013 Dec;14(12):1174-80.
Epub 2013 Aug 1
doi: 10.1093/ehjci/jet074.
PMID: 23907345
Pro B,
Leber B,
Smith M,
Fayad L,
Romaguera J,
Hagemeister F,
Rodriguez A,
McLaughlin P,
Samaniego F,
Zwiebel J,
Lopez A,
Kwak L,
Younes A
Br J Haematol
2008 Nov;143(3):355-60.
Epub 2008 Sep 1
doi: 10.1111/j.1365-2141.2008.07353.x.
PMID: 18764869
Clinical prediction guides
Tubau-Juni N,
Bassaganya-Riera J,
Leber AJ,
Alva SS,
Hontecillas R
Inflamm Bowel Dis
2024 Jan 5;30(1):103-113.
doi: 10.1093/ibd/izad124.
PMID: 37436905
Zibold J,
von Livonius B,
Kolarova H,
Rudolph G,
Priglinger CS,
Klopstock T,
Catarino CB
Orphanet J Rare Dis
2022 Aug 9;17(1):310.
doi: 10.1186/s13023-022-02453-z.
PMID: 35945620Free PMC Article
Hernandez-Da-Mota S,
Escalante-Razo F
Eur J Ophthalmol
2009 Mar-Apr;19(2):307-9.
doi: 10.1177/112067210901900225.
PMID: 19253255
La Morgia C,
Achilli A,
Iommarini L,
Barboni P,
Pala M,
Olivieri A,
Zanna C,
Vidoni S,
Tonon C,
Lodi R,
Vetrugno R,
Mostacci B,
Liguori R,
Carroccia R,
Montagna P,
Rugolo M,
Torroni A,
Carelli V
Neurology
2008 Mar 4;70(10):762-70.
Epub 2008 Jan 23
doi: 10.1212/01.wnl.0000295505.74234.d0.
PMID: 18216301
Brown MD,
Shoffner JM,
Kim YL,
Jun AS,
Graham BH,
Cabell MF,
Gurley DS,
Wallace DC
Am J Med Genet
1996 Jan 22;61(3):283-9.
doi: 10.1002/(SICI)1096-8628(19960122)61:3<283::AID-AJMG15>3.0.CO;2-P.
PMID: 8741876