Etiology
Worm C,
Schambye MER,
Mkrtchyan GV,
Veviorskiy A,
Shneyderman A,
Ozerov IV,
Zhavoronkov A,
Bakula D,
Scheibye-Knudsen M
Aging (Albany NY)
2024 Feb 9;16(3):2026-2046.
doi: 10.18632/aging.205537.
PMID: 38345566Free PMC Article
Unterholzner L
Immunobiology
2013 Nov;218(11):1312-21.
Epub 2013 Jul 29
doi: 10.1016/j.imbio.2013.07.007.
PMID: 23962476
Liu W,
Narayanan V
Semin Pediatr Neurol
2008 Dec;15(4):216-20.
doi: 10.1016/j.spen.2008.10.014.
PMID: 19073331
Le Ber I,
Brice A,
Dürr A
Curr Neurol Neurosci Rep
2005 Sep;5(5):411-7.
doi: 10.1007/s11910-005-0066-4.
PMID: 16131425
Taylor AM
Best Pract Res Clin Haematol
2001 Sep;14(3):631-44.
doi: 10.1053/beha.2001.0158.
PMID: 11640873
Diagnosis
Worm C,
Schambye MER,
Mkrtchyan GV,
Veviorskiy A,
Shneyderman A,
Ozerov IV,
Zhavoronkov A,
Bakula D,
Scheibye-Knudsen M
Aging (Albany NY)
2024 Feb 9;16(3):2026-2046.
doi: 10.18632/aging.205537.
PMID: 38345566Free PMC Article
Magrino J,
Munford V,
Martins DJ,
Homma TK,
Page B,
Gaubitz C,
Freire BL,
Lerario AM,
Vilar JB,
Amorin A,
Leão EKE,
Kok F,
Menck CF,
Jorge AA,
Kelch BA
J Biol Chem
2023 May;299(5):104656.
Epub 2023 Mar 27
doi: 10.1016/j.jbc.2023.104656.
PMID: 36990216Free PMC Article
Liu W,
Narayanan V
Semin Pediatr Neurol
2008 Dec;15(4):216-20.
doi: 10.1016/j.spen.2008.10.014.
PMID: 19073331
Taylor AM,
Groom A,
Byrd PJ
DNA Repair (Amst)
2004 Aug-Sep;3(8-9):1219-25.
doi: 10.1016/j.dnarep.2004.04.009.
PMID: 15279810
Taylor AM
Best Pract Res Clin Haematol
2001 Sep;14(3):631-44.
doi: 10.1053/beha.2001.0158.
PMID: 11640873
Therapy
Uchisaka N,
Takahashi N,
Sato M,
Kikuchi A,
Mochizuki S,
Imai K,
Nonoyama S,
Ohara O,
Watanabe F,
Mizutani S,
Hanada R,
Morio T
J Pediatr
2009 Sep;155(3):435-8.
doi: 10.1016/j.jpeds.2009.02.037.
PMID: 19732584
Prognosis
Tarapara B,
Shah F
J Biomol Struct Dyn
2023 Apr;41(6):2160-2174.
Epub 2022 Jan 20
doi: 10.1080/07391102.2022.2028678.
PMID: 35048780
Regal JA,
Festerling TA,
Buis JM,
Ferguson DO
Hum Mol Genet
2013 Dec 20;22(25):5146-59.
Epub 2013 Aug 2
doi: 10.1093/hmg/ddt368.
PMID: 23912341Free PMC Article
Oba D,
Hayashi M,
Minamitani M,
Hamano S,
Uchisaka N,
Kikuchi A,
Kishimoto H,
Takagi M,
Morio T,
Mizutani S
Acta Neuropathol
2010 Apr;119(4):513-20.
Epub 2010 Jan 20
doi: 10.1007/s00401-010-0639-4.
PMID: 20087742
Uchisaka N,
Takahashi N,
Sato M,
Kikuchi A,
Mochizuki S,
Imai K,
Nonoyama S,
Ohara O,
Watanabe F,
Mizutani S,
Hanada R,
Morio T
J Pediatr
2009 Sep;155(3):435-8.
doi: 10.1016/j.jpeds.2009.02.037.
PMID: 19732584
Theunissen JW,
Kaplan MI,
Hunt PA,
Williams BR,
Ferguson DO,
Alt FW,
Petrini JH
Mol Cell
2003 Dec;12(6):1511-23.
doi: 10.1016/s1097-2765(03)00455-6.
PMID: 14690604
Clinical prediction guides
Fiévet A,
Bellanger D,
Valence S,
Mobuchon L,
Afenjar A,
Giuliano F,
Dubois d'Enghien C,
Parfait B,
Pedespan JM,
Auger N,
Rieunier G,
Collet A,
Burglen L,
Stoppa-Lyonnet D,
Stern MH
Hum Mutat
2019 Oct;40(10):1690-1699.
Epub 2019 May 15
doi: 10.1002/humu.23773.
PMID: 31033087
Unterholzner L
Immunobiology
2013 Nov;218(11):1312-21.
Epub 2013 Jul 29
doi: 10.1016/j.imbio.2013.07.007.
PMID: 23962476
Khan AO,
Oystreck DT,
Koenig M,
Salih MA
J AAPOS
2008 Apr;12(2):186-9.
Epub 2007 Dec 21
doi: 10.1016/j.jaapos.2007.09.016.
PMID: 18083591
Gueven N,
Chen P,
Nakamura J,
Becherel OJ,
Kijas AW,
Grattan-Smith P,
Lavin MF
Neuroscience
2007 Apr 14;145(4):1418-25.
Epub 2007 Jan 16
doi: 10.1016/j.neuroscience.2006.12.010.
PMID: 17224243
Petrini JH
Curr Opin Cell Biol
2000 Jun;12(3):293-6.
doi: 10.1016/s0955-0674(00)00091-0.
PMID: 10801460