Etiology
Benson CS,
Shah A,
Stanworth SJ,
Frise CJ,
Spiby H,
Lax SJ,
Murray J,
Klein AA
Anaesthesia
2021 Apr;76 Suppl 4:84-95.
doi: 10.1111/anae.15405.
PMID: 33682105
Gensemer C,
Burks R,
Kautz S,
Judge DP,
Lavallee M,
Norris RA
Dev Dyn
2021 Mar;250(3):318-344.
Epub 2020 Aug 17
doi: 10.1002/dvdy.220.
PMID: 32629534Free PMC Article
Malfait F,
Castori M,
Francomano CA,
Giunta C,
Kosho T,
Byers PH
Nat Rev Dis Primers
2020 Jul 30;6(1):64.
doi: 10.1038/s41572-020-0194-9.
PMID: 32732924
Ritelli M,
Colombi M
Genes (Basel)
2020 May 13;11(5)
doi: 10.3390/genes11050547.
PMID: 32414079Free PMC Article
Malfait F,
Francomano C,
Byers P,
Belmont J,
Berglund B,
Black J,
Bloom L,
Bowen JM,
Brady AF,
Burrows NP,
Castori M,
Cohen H,
Colombi M,
Demirdas S,
De Backer J,
De Paepe A,
Fournel-Gigleux S,
Frank M,
Ghali N,
Giunta C,
Grahame R,
Hakim A,
Jeunemaitre X,
Johnson D,
Juul-Kristensen B,
Kapferer-Seebacher I,
Kazkaz H,
Kosho T,
Lavallee ME,
Levy H,
Mendoza-Londono R,
Pepin M,
Pope FM,
Reinstein E,
Robert L,
Rohrbach M,
Sanders L,
Sobey GJ,
Van Damme T,
Vandersteen A,
van Mourik C,
Voermans N,
Wheeldon N,
Zschocke J,
Tinkle B
Am J Med Genet C Semin Med Genet
2017 Mar;175(1):8-26.
doi: 10.1002/ajmg.c.31552.
PMID: 28306229
Diagnosis
Gensemer C,
Burks R,
Kautz S,
Judge DP,
Lavallee M,
Norris RA
Dev Dyn
2021 Mar;250(3):318-344.
Epub 2020 Aug 17
doi: 10.1002/dvdy.220.
PMID: 32629534Free PMC Article
Malfait F,
Castori M,
Francomano CA,
Giunta C,
Kosho T,
Byers PH
Nat Rev Dis Primers
2020 Jul 30;6(1):64.
doi: 10.1038/s41572-020-0194-9.
PMID: 32732924
Ritelli M,
Colombi M
Genes (Basel)
2020 May 13;11(5)
doi: 10.3390/genes11050547.
PMID: 32414079Free PMC Article
Malfait F,
Francomano C,
Byers P,
Belmont J,
Berglund B,
Black J,
Bloom L,
Bowen JM,
Brady AF,
Burrows NP,
Castori M,
Cohen H,
Colombi M,
Demirdas S,
De Backer J,
De Paepe A,
Fournel-Gigleux S,
Frank M,
Ghali N,
Giunta C,
Grahame R,
Hakim A,
Jeunemaitre X,
Johnson D,
Juul-Kristensen B,
Kapferer-Seebacher I,
Kazkaz H,
Kosho T,
Lavallee ME,
Levy H,
Mendoza-Londono R,
Pepin M,
Pope FM,
Reinstein E,
Robert L,
Rohrbach M,
Sanders L,
Sobey GJ,
Van Damme T,
Vandersteen A,
van Mourik C,
Voermans N,
Wheeldon N,
Zschocke J,
Tinkle B
Am J Med Genet C Semin Med Genet
2017 Mar;175(1):8-26.
doi: 10.1002/ajmg.c.31552.
PMID: 28306229
Bowen JM,
Sobey GJ,
Burrows NP,
Colombi M,
Lavallee ME,
Malfait F,
Francomano CA
Am J Med Genet C Semin Med Genet
2017 Mar;175(1):27-39.
Epub 2017 Feb 13
doi: 10.1002/ajmg.c.31548.
PMID: 28192633
Therapy
Lax SJ,
Harvey J,
Axon E,
Howells L,
Santer M,
Ridd MJ,
Lawton S,
Langan S,
Roberts A,
Ahmed A,
Muller I,
Ming LC,
Panda S,
Chernyshov P,
Carter B,
Williams HC,
Thomas KS,
Chalmers JR
Cochrane Database Syst Rev
2022 Mar 11;3(3):CD013356.
doi: 10.1002/14651858.CD013356.pub2.
PMID: 35275399Free PMC Article
Benson CS,
Shah A,
Stanworth SJ,
Frise CJ,
Spiby H,
Lax SJ,
Murray J,
Klein AA
Anaesthesia
2021 Apr;76 Suppl 4:84-95.
doi: 10.1111/anae.15405.
PMID: 33682105
Miller AJ,
Schubart JR,
Sheehan T,
Bascom R,
Francomano CA
Genes (Basel)
2020 Jan 4;11(1)
doi: 10.3390/genes11010055.
PMID: 31947929Free PMC Article
Melvin JE,
Hickey RW
Pediatr Emerg Care
2019 Jul;35(7):e127.
doi: 10.1097/PEC.0000000000001498.
PMID: 29746360
van Gool JD,
Hirche H,
Lax H,
De Schaepdrijver L
Reprod Toxicol
2018 Sep;80:73-84.
Epub 2018 May 16
doi: 10.1016/j.reprotox.2018.05.004.
PMID: 29777755
Prognosis
Suriapperuma T,
Randeny S,
Mettananda S
J Med Case Rep
2022 Jul 22;16(1):284.
doi: 10.1186/s13256-022-03512-6.
PMID: 35864517Free PMC Article
Amarnani AA,
Poladian KR,
Marciano BE,
Daub JR,
Williams SG,
Livinski AA,
Hsu AP,
Palmer CL,
Kenney CM,
Avila DN,
Holland SM,
Katz JD
Sci Rep
2020 May 20;10(1):8305.
doi: 10.1038/s41598-020-64852-1.
PMID: 32433473Free PMC Article
Jha V,
Chugh KS
Semin Nephrol
2003 Jan;23(1):49-65.
doi: 10.1053/snep.2003.50003.
PMID: 12563601
Solomon JA,
Abrams L,
Lichtenstein GR
Am J Gastroenterol
1996 Nov;91(11):2282-8.
PMID: 8931403
Reid DC
Sports Med
1988 Nov;6(5):295-307.
doi: 10.2165/00007256-198806050-00005.
PMID: 3064238
Clinical prediction guides
Jamieson A,
Vermij L,
Kramer CJH,
Jobsen JJ,
Jürgemlienk-Schulz I,
Lutgens L,
Mens JW,
Haverkort MAD,
Slot A,
Nout RA,
Oosting J,
Carlson J,
Howitt BE,
Ip PPC,
Lax SF,
McCluggage WG,
Singh N,
McAlpine JN,
Creutzberg CL,
Horeweg N,
Gilks CB,
Bosse T
Clin Cancer Res
2023 Dec 1;29(23):4949-4957.
doi: 10.1158/1078-0432.CCR-23-1397.
PMID: 37773079Free PMC Article
Smith LA,
Chen C,
Lax NZ,
Taylor RW,
Erskine D,
McFarland R
Acta Neuropathol Commun
2023 May 31;11(1):86.
doi: 10.1186/s40478-023-01579-w.
PMID: 37259148Free PMC Article
Igharo D,
Thiel JC,
Rolke R,
Akkaya M,
Weis J,
Katona I,
Schulz JB,
Maier A
Eur J Neurol
2023 Mar;30(3):719-728.
Epub 2022 Dec 13
doi: 10.1111/ene.15649.
PMID: 36437696
Benson CS,
Shah A,
Stanworth SJ,
Frise CJ,
Spiby H,
Lax SJ,
Murray J,
Klein AA
Anaesthesia
2021 Apr;76 Suppl 4:84-95.
doi: 10.1111/anae.15405.
PMID: 33682105
Malfait F,
Wenstrup RJ,
De Paepe A
Genet Med
2010 Oct;12(10):597-605.
doi: 10.1097/GIM.0b013e3181eed412.
PMID: 20847697