Etiology
Milea D,
Najjar RP,
Zhubo J,
Ting D,
Vasseneix C,
Xu X,
Aghsaei Fard M,
Fonseca P,
Vanikieti K,
Lagrèze WA,
La Morgia C,
Cheung CY,
Hamann S,
Chiquet C,
Sanda N,
Yang H,
Mejico LJ,
Rougier M-B,
Kho R,
Thi Ha Chau T,
Singhal S,
Gohier P,
Clermont-Vignal C,
Cheng C-Y,
Jonas JB,
Yu-Wai-Man P,
Fraser CL,
Chen JJ,
Ambika S,
Miller NR,
Liu Y,
Newman NJ,
Wong TY,
Biousse V;
BONSAI Group
N Engl J Med
2020 Apr 30;382(18):1687-1695.
Epub 2020 Apr 14
doi: 10.1056/NEJMoa1917130.
PMID: 32286748
Béhin A,
Salort-Campana E,
Wahbi K,
Richard P,
Carlier RY,
Carlier P,
Laforêt P,
Stojkovic T,
Maisonobe T,
Verschueren A,
Franques J,
Attarian S,
Maues de Paula A,
Figarella-Branger D,
Bécane HM,
Nelson I,
Duboc D,
Bonne G,
Vicart P,
Udd B,
Romero N,
Pouget J,
Eymard B
Rev Neurol (Paris)
2015 Oct;171(10):715-29.
Epub 2015 Sep 3
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PMID: 26342832
Cho CH,
Hsu L,
Ferrone ML,
Leonard DA,
Harris MB,
Zamani AA,
Bono CM
AJNR Am J Neuroradiol
2015 May;36(5):1008-13.
Epub 2015 Mar 5
doi: 10.3174/ajnr.A4212.
PMID: 25742982Free PMC Article
Vattemi G,
Neri M,
Piffer S,
Vicart P,
Gualandi F,
Marini M,
Guglielmi V,
Filosto M,
Tonin P,
Ferlini A,
Tomelleri G
Acta Myol
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PMID: 22106715Free PMC Article
Selcen D
Neuromuscul Disord
2011 Mar;21(3):161-71.
Epub 2011 Jan 20
doi: 10.1016/j.nmd.2010.12.007.
PMID: 21256014Free PMC Article
Diagnosis
Milea D,
Najjar RP,
Zhubo J,
Ting D,
Vasseneix C,
Xu X,
Aghsaei Fard M,
Fonseca P,
Vanikieti K,
Lagrèze WA,
La Morgia C,
Cheung CY,
Hamann S,
Chiquet C,
Sanda N,
Yang H,
Mejico LJ,
Rougier M-B,
Kho R,
Thi Ha Chau T,
Singhal S,
Gohier P,
Clermont-Vignal C,
Cheng C-Y,
Jonas JB,
Yu-Wai-Man P,
Fraser CL,
Chen JJ,
Ambika S,
Miller NR,
Liu Y,
Newman NJ,
Wong TY,
Biousse V;
BONSAI Group
N Engl J Med
2020 Apr 30;382(18):1687-1695.
Epub 2020 Apr 14
doi: 10.1056/NEJMoa1917130.
PMID: 32286748
Béhin A,
Salort-Campana E,
Wahbi K,
Richard P,
Carlier RY,
Carlier P,
Laforêt P,
Stojkovic T,
Maisonobe T,
Verschueren A,
Franques J,
Attarian S,
Maues de Paula A,
Figarella-Branger D,
Bécane HM,
Nelson I,
Duboc D,
Bonne G,
Vicart P,
Udd B,
Romero N,
Pouget J,
Eymard B
Rev Neurol (Paris)
2015 Oct;171(10):715-29.
Epub 2015 Sep 3
doi: 10.1016/j.neurol.2015.06.002.
PMID: 26342832
Cho CH,
Hsu L,
Ferrone ML,
Leonard DA,
Harris MB,
Zamani AA,
Bono CM
AJNR Am J Neuroradiol
2015 May;36(5):1008-13.
Epub 2015 Mar 5
doi: 10.3174/ajnr.A4212.
PMID: 25742982Free PMC Article
Selcen D
Neuromuscul Disord
2011 Mar;21(3):161-71.
Epub 2011 Jan 20
doi: 10.1016/j.nmd.2010.12.007.
PMID: 21256014Free PMC Article
Pelin K,
Wallgren-Pettersson C
Adv Exp Med Biol
2008;642:28-39.
PMID: 19181091
Prognosis
Milea D,
Najjar RP,
Zhubo J,
Ting D,
Vasseneix C,
Xu X,
Aghsaei Fard M,
Fonseca P,
Vanikieti K,
Lagrèze WA,
La Morgia C,
Cheung CY,
Hamann S,
Chiquet C,
Sanda N,
Yang H,
Mejico LJ,
Rougier M-B,
Kho R,
Thi Ha Chau T,
Singhal S,
Gohier P,
Clermont-Vignal C,
Cheng C-Y,
Jonas JB,
Yu-Wai-Man P,
Fraser CL,
Chen JJ,
Ambika S,
Miller NR,
Liu Y,
Newman NJ,
Wong TY,
Biousse V;
BONSAI Group
N Engl J Med
2020 Apr 30;382(18):1687-1695.
Epub 2020 Apr 14
doi: 10.1056/NEJMoa1917130.
PMID: 32286748
Jain P,
Rajeshwari SM,
Singh J,
Kumar T,
Agarwal SP,
Das P
Fetal Pediatr Pathol
2016;35(2):124-8.
Epub 2016 Jan 30
doi: 10.3109/15513815.2015.1131783.
PMID: 26828629
Ocular Hypertension Treatment Study Group;
European Glaucoma Prevention Study Group,
Gordon MO,
Torri V,
Miglior S,
Beiser JA,
Floriani I,
Miller JP,
Gao F,
Adamsons I,
Poli D,
D'Agostino RB,
Kass MA
Ophthalmology
2007 Jan;114(1):10-9.
Epub 2006 Nov 7
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PMID: 17095090Free PMC Article
Barry CJ,
Cooper RL,
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Aust N Z J Ophthalmol
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Sullivan TJ
Aust N Z J Ophthalmol
1995 May;23(2):145-7.
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PMID: 7546691
Clinical prediction guides
Donkervoort S,
Kutzner CE,
Hu Y,
Lornage X,
Rendu J,
Stojkovic T,
Baets J,
Neuhaus SB,
Tanboon J,
Maroofian R,
Bolduc V,
Mroczek M,
Conijn S,
Kuntz NL,
Töpf A,
Monges S,
Lubieniecki F,
McCarty RM,
Chao KR,
Governali S,
Böhm J,
Boonyapisit K,
Malfatti E,
Sangruchi T,
Horkayne-Szakaly I,
Hedberg-Oldfors C,
Efthymiou S,
Noguchi S,
Djeddi S,
Iida A,
di Rosa G,
Fiorillo C,
Salpietro V,
Darin N,
Fauré J,
Houlden H,
Oldfors A,
Nishino I,
de Ridder W,
Straub V,
Pokrzywa W,
Laporte J,
Foley AR,
Romero NB,
Ottenheijm C,
Hoppe T,
Bönnemann CG
Am J Hum Genet
2020 Dec 3;107(6):1078-1095.
Epub 2020 Nov 19
doi: 10.1016/j.ajhg.2020.11.002.
PMID: 33217308Free PMC Article
Milea D,
Najjar RP,
Zhubo J,
Ting D,
Vasseneix C,
Xu X,
Aghsaei Fard M,
Fonseca P,
Vanikieti K,
Lagrèze WA,
La Morgia C,
Cheung CY,
Hamann S,
Chiquet C,
Sanda N,
Yang H,
Mejico LJ,
Rougier M-B,
Kho R,
Thi Ha Chau T,
Singhal S,
Gohier P,
Clermont-Vignal C,
Cheng C-Y,
Jonas JB,
Yu-Wai-Man P,
Fraser CL,
Chen JJ,
Ambika S,
Miller NR,
Liu Y,
Newman NJ,
Wong TY,
Biousse V;
BONSAI Group
N Engl J Med
2020 Apr 30;382(18):1687-1695.
Epub 2020 Apr 14
doi: 10.1056/NEJMoa1917130.
PMID: 32286748
Guglielmi V,
Marini M,
Masson ÉF,
Malatesta M,
Forget D,
Tomelleri G,
Coulombe B,
Vattemi G
Histopathology
2015 Dec;67(6):859-65.
Epub 2015 May 25
doi: 10.1111/his.12715.
PMID: 25891782
Cho CH,
Hsu L,
Ferrone ML,
Leonard DA,
Harris MB,
Zamani AA,
Bono CM
AJNR Am J Neuroradiol
2015 May;36(5):1008-13.
Epub 2015 Mar 5
doi: 10.3174/ajnr.A4212.
PMID: 25742982Free PMC Article
Arvidsson LZ,
Smith HJ,
Flatø B,
Larheim TA
Radiology
2010 Jul;256(1):191-200.
doi: 10.1148/radiol.10091810.
PMID: 20574096