Etiology
Skorczyk-Werner A,
Tońska K,
Maciejczuk A,
Nowomiejska K,
Korwin M,
Ołdak M,
Wawrocka A,
Krawczyński MR
Int J Mol Sci
2023 Dec 15;24(24)
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Rocatcher A,
Desquiret-Dumas V,
Charif M,
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Gohier P,
Mirebeau-Prunier D,
Verny C,
Milea D,
Lenaers G;
HON Collaborators Group,
Bonneau D,
Reynier P,
Amati-Bonneau P
Brain
2023 Feb 13;146(2):455-460.
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PMID: 36317462
Klopstock T,
Priglinger C,
Yilmaz A,
Kornblum C,
Distelmaier F,
Prokisch H
Dtsch Arztebl Int
2021 Nov 5;118(44):741-748.
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Tranchant C,
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Rev Neurol (Paris)
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Epub 2016 Jul 28
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PMID: 27476418
Neuhann T,
Rautenstrauss B
Expert Rev Neurother
2013 Apr;13(4):357-67.
doi: 10.1586/ern.13.19.
PMID: 23545052
Diagnosis
Lenaers G,
Beaulieu C,
Charif M,
Gerber S,
Kaplan J,
Rozet JM
Brain
2023 Aug 1;146(8):3156-3161.
doi: 10.1093/brain/awad131.
PMID: 37071596Free PMC Article
Carelli V,
La Morgia C,
Yu-Wai-Man P
Handb Clin Neurol
2023;194:23-42.
doi: 10.1016/B978-0-12-821751-1.00010-5.
PMID: 36813316
Klopstock T,
Priglinger C,
Yilmaz A,
Kornblum C,
Distelmaier F,
Prokisch H
Dtsch Arztebl Int
2021 Nov 5;118(44):741-748.
doi: 10.3238/arztebl.m2021.0251.
PMID: 34158150Free PMC Article
Stenton SL,
Sheremet NL,
Catarino CB,
Andreeva NA,
Assouline Z,
Barboni P,
Barel O,
Berutti R,
Bychkov I,
Caporali L,
Capristo M,
Carbonelli M,
Cascavilla ML,
Charbel Issa P,
Freisinger P,
Gerber S,
Ghezzi D,
Graf E,
Heidler J,
Hempel M,
Heon E,
Itkis YS,
Javasky E,
Kaplan J,
Kopajtich R,
Kornblum C,
Kovacs-Nagy R,
Krylova TD,
Kunz WS,
La Morgia C,
Lamperti C,
Ludwig C,
Malacarne PF,
Maresca A,
Mayr JA,
Meisterknecht J,
Nevinitsyna TA,
Palombo F,
Pode-Shakked B,
Shmelkova MS,
Strom TM,
Tagliavini F,
Tzadok M,
van der Ven AT,
Vignal-Clermont C,
Wagner M,
Zakharova EY,
Zhorzholadze NV,
Rozet JM,
Carelli V,
Tsygankova PG,
Klopstock T,
Wittig I,
Prokisch H
J Clin Invest
2021 Mar 15;131(6)
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PMID: 33465056Free PMC Article
Zeviani M,
Tiranti V,
Piantadosi C
Medicine (Baltimore)
1998 Jan;77(1):59-72.
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PMID: 9465864
Therapy
Hu JL,
Hsu CC,
Hsiao YJ,
Lin YY,
Lai WY,
Liu YH,
Wang CL,
Ko YL,
Tsai ML,
Tseng HC,
Chien Y,
Yang YP
J Chin Med Assoc
2024 Jan 1;87(1):12-16.
Epub 2023 Nov 28
doi: 10.1097/JCMA.0000000000001031.
PMID: 38016117
Prognosis
Hotta Y,
Torii K,
Takayama M
Jpn J Ophthalmol
2024 Sep;68(5):401-418.
Epub 2024 Sep 14
doi: 10.1007/s10384-024-01109-8.
PMID: 39271608Free PMC Article
Roomets E,
Mauring L
Eur J Ophthalmol
2024 Sep;34(5):NP1-NP7.
Epub 2024 May 7
doi: 10.1177/11206721241254408.
PMID: 38715355Free PMC Article
Zou XH,
Guo XX,
Su HZ,
Wang C,
Dong EL,
Wang N,
Chen WJ,
Zhang QJ
J Mol Neurosci
2019 Aug;68(4):640-646.
Epub 2019 May 10
doi: 10.1007/s12031-019-01319-7.
PMID: 31077085
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.
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PMID: 22776096Free PMC Article
Finsterer J
Acta Haematol
2007;118(2):88-98.
Epub 2007 Jul 18
doi: 10.1159/000105676.
PMID: 17637511
Clinical prediction guides
Hotta Y,
Torii K,
Takayama M
Jpn J Ophthalmol
2024 Sep;68(5):401-418.
Epub 2024 Sep 14
doi: 10.1007/s10384-024-01109-8.
PMID: 39271608Free PMC Article
Gupta PR,
Gospe SM , III
Ophthalmic Genet
2023 Oct;44(5):469-474.
Epub 2022 Oct 19
doi: 10.1080/13816810.2022.2135112.
PMID: 36262091
Neuhann T,
Rautenstrauss B
Expert Rev Neurother
2013 Apr;13(4):357-67.
doi: 10.1586/ern.13.19.
PMID: 23545052
Qu J,
Wang Y,
Tong Y,
Zhou X,
Zhao F,
Yang L,
Zhang S,
Zhang J,
West CE,
Guan MX
Invest Ophthalmol Vis Sci
2010 Oct;51(10):4906-12.
Epub 2010 Apr 30
doi: 10.1167/iovs.09-5027.
PMID: 20435583Free PMC Article
Richard M,
Roepman R,
Aartsen WM,
van Rossum AG,
den Hollander AI,
Knust E,
Wijnholds J,
Cremers FP
Hum Mol Genet
2006 Oct 15;15 Spec No 2:R235-43.
doi: 10.1093/hmg/ddl195.
PMID: 16987889