Etiology
Gray J,
Welck M,
Cullen NP,
Singh D
Bone Joint J
2021 Jun;103-B(6):1127-1132.
doi: 10.1302/0301-620X.103B6.BJJ-2020-2187.R2.
PMID: 34058886
Cif L,
Demailly D,
Lin JP,
Barwick KE,
Sa M,
Abela L,
Malhotra S,
Chong WK,
Steel D,
Sanchis-Juan A,
Ngoh A,
Trump N,
Meyer E,
Vasques X,
Rankin J,
Allain MW,
Applegate CD,
Attaripour Isfahani S,
Baleine J,
Balint B,
Bassetti JA,
Baple EL,
Bhatia KP,
Blanchet C,
Burglen L,
Cambonie G,
Seng EC,
Bastaraud SC,
Cyprien F,
Coubes C,
d'Hardemare V;
Deciphering Developmental Disorders Study,
Doja A,
Dorison N,
Doummar D,
Dy-Hollins ME,
Farrelly E,
Fitzpatrick DR,
Fearon C,
Fieg EL,
Fogel BL,
Forman EB,
Fox RG;
Genomics England Research Consortium,
Gahl WA,
Galosi S,
Gonzalez V,
Graves TD,
Gregory A,
Hallett M,
Hasegawa H,
Hayflick SJ,
Hamosh A,
Hully M,
Jansen S,
Jeong SY,
Krier JB,
Krystal S,
Kumar KR,
Laurencin C,
Lee H,
Lesca G,
François LL,
Lynch T,
Mahant N,
Martinez-Agosto JA,
Milesi C,
Mills KA,
Mondain M,
Morales-Briceno H;
NIHR BioResource,
Ostergaard JR,
Pal S,
Pallais JC,
Pavillard F,
Perrigault PF,
Petersen AK,
Polo G,
Poulen G,
Rinne T,
Roujeau T,
Rogers C,
Roubertie A,
Sahagian M,
Schaefer E,
Selim L,
Selway R,
Sharma N,
Signer R,
Soldatos AG,
Stevenson DA,
Stewart F,
Tchan M;
Undiagnosed Diseases Network,
Verma IC,
de Vries BBA,
Wilson JL,
Wong DA,
Zaitoun R,
Zhen D,
Znaczko A,
Dale RC,
de Gusmão CM,
Friedman J,
Fung VSC,
King MD,
Mohammad SS,
Rohena L,
Waugh JL,
Toro C,
Raymond FL,
Topf M,
Coubes P,
Gorman KM,
Kurian MA
Brain
2020 Dec 5;143(11):3242-3261.
doi: 10.1093/brain/awaa304.
PMID: 33150406Free PMC Article
Balint B,
Mencacci NE,
Valente EM,
Pisani A,
Rothwell J,
Jankovic J,
Vidailhet M,
Bhatia KP
Nat Rev Dis Primers
2018 Sep 20;4(1):25.
doi: 10.1038/s41572-018-0023-6.
PMID: 30237473
Asmus F,
Gasser T
Eur J Neurol
2010 Jul;17 Suppl 1:37-45.
doi: 10.1111/j.1468-1331.2010.03049.x.
PMID: 20590807
van Harten PN,
Kahn RS
Schizophr Bull
1999;25(4):741-8.
doi: 10.1093/oxfordjournals.schbul.a033415.
PMID: 10667744
Diagnosis
Pérez-Dueñas B,
Gorman K,
Marcé-Grau A,
Ortigoza-Escobar JD,
Macaya A,
Danti FR,
Barwick K,
Papandreou A,
Ng J,
Meyer E,
Mohammad SS,
Smith M,
Muntoni F,
Munot P,
Uusimaa J,
Vieira P,
Sheridan E,
Guerrini R,
Cobben J,
Yilmaz S,
De Grandis E,
Dale RC,
Pons R,
Peall KJ,
Leuzzi V,
Kurian MA
Mov Disord
2022 Nov;37(11):2197-2209.
Epub 2022 Aug 25
doi: 10.1002/mds.29182.
PMID: 36054588Free PMC Article
Jinnah HA
Continuum (Minneap Minn)
2019 Aug;25(4):976-1000.
doi: 10.1212/CON.0000000000000747.
PMID: 31356290
Louis ED
Continuum (Minneap Minn)
2019 Aug;25(4):959-975.
doi: 10.1212/CON.0000000000000748.
PMID: 31356289
Balint B,
Mencacci NE,
Valente EM,
Pisani A,
Rothwell J,
Jankovic J,
Vidailhet M,
Bhatia KP
Nat Rev Dis Primers
2018 Sep 20;4(1):25.
doi: 10.1038/s41572-018-0023-6.
PMID: 30237473
Ford B
Mov Disord
2010;25 Suppl 1:S98-103.
doi: 10.1002/mds.22716.
PMID: 20187254
Therapy
Bilbao A,
Spanagel R
BMC Med
2022 Aug 19;20(1):259.
doi: 10.1186/s12916-022-02459-1.
PMID: 35982439Free PMC Article
Jinnah HA
Continuum (Minneap Minn)
2019 Aug;25(4):976-1000.
doi: 10.1212/CON.0000000000000747.
PMID: 31356290
Louis ED
Continuum (Minneap Minn)
2019 Aug;25(4):959-975.
doi: 10.1212/CON.0000000000000748.
PMID: 31356289
Balint B,
Mencacci NE,
Valente EM,
Pisani A,
Rothwell J,
Jankovic J,
Vidailhet M,
Bhatia KP
Nat Rev Dis Primers
2018 Sep 20;4(1):25.
doi: 10.1038/s41572-018-0023-6.
PMID: 30237473
Woolf SM,
Baum CR
Pediatr Emerg Care
2017 Apr;33(4):271-275.
doi: 10.1097/PEC.0000000000001090.
PMID: 28353527
Prognosis
Gray J,
Welck M,
Cullen NP,
Singh D
Bone Joint J
2021 Jun;103-B(6):1127-1132.
doi: 10.1302/0301-620X.103B6.BJJ-2020-2187.R2.
PMID: 34058886
Herr T,
Hummel T,
Vollmer M,
Willert C,
Veit B,
Gamain J,
Fleischmann R,
Lehnert B,
Mueller JU,
Stenner A,
Kronenbuerger M
J Neural Transm (Vienna)
2020 Mar;127(3):347-354.
Epub 2020 Feb 15
doi: 10.1007/s00702-020-02156-4.
PMID: 32062706Free PMC Article
Graus F,
Dalmau J
Curr Opin Neurol
2012 Dec;25(6):795-801.
doi: 10.1097/WCO.0b013e328359da15.
PMID: 23041955Free PMC Article
Asmus F,
Gasser T
Eur J Neurol
2010 Jul;17 Suppl 1:37-45.
doi: 10.1111/j.1468-1331.2010.03049.x.
PMID: 20590807
van Harten PN,
Kahn RS
Schizophr Bull
1999;25(4):741-8.
doi: 10.1093/oxfordjournals.schbul.a033415.
PMID: 10667744
Clinical prediction guides
Pérez-Dueñas B,
Gorman K,
Marcé-Grau A,
Ortigoza-Escobar JD,
Macaya A,
Danti FR,
Barwick K,
Papandreou A,
Ng J,
Meyer E,
Mohammad SS,
Smith M,
Muntoni F,
Munot P,
Uusimaa J,
Vieira P,
Sheridan E,
Guerrini R,
Cobben J,
Yilmaz S,
De Grandis E,
Dale RC,
Pons R,
Peall KJ,
Leuzzi V,
Kurian MA
Mov Disord
2022 Nov;37(11):2197-2209.
Epub 2022 Aug 25
doi: 10.1002/mds.29182.
PMID: 36054588Free PMC Article
Traschütz A,
Cortese A,
Reich S,
Dominik N,
Faber J,
Jacobi H,
Hartmann AM,
Rujescu D,
Montaut S,
Echaniz-Laguna A,
Erer S,
Schütz VC,
Tarnutzer AA,
Sturm M,
Haack TB,
Vaucamps-Diedhiou N,
Puccio H,
Schöls L,
Klockgether T,
van de Warrenburg BP,
Paucar M,
Timmann D,
Hilgers RD,
Gazulla J,
Strupp M,
Moris G,
Filla A,
Houlden H,
Anheim M,
Infante J,
Basak AN,
Synofzik M;
RFC1 Study Group
Neurology
2021 Mar 2;96(9):e1369-e1382.
Epub 2021 Jan 25
doi: 10.1212/WNL.0000000000011528.
PMID: 33495376Free PMC Article
Cif L,
Demailly D,
Lin JP,
Barwick KE,
Sa M,
Abela L,
Malhotra S,
Chong WK,
Steel D,
Sanchis-Juan A,
Ngoh A,
Trump N,
Meyer E,
Vasques X,
Rankin J,
Allain MW,
Applegate CD,
Attaripour Isfahani S,
Baleine J,
Balint B,
Bassetti JA,
Baple EL,
Bhatia KP,
Blanchet C,
Burglen L,
Cambonie G,
Seng EC,
Bastaraud SC,
Cyprien F,
Coubes C,
d'Hardemare V;
Deciphering Developmental Disorders Study,
Doja A,
Dorison N,
Doummar D,
Dy-Hollins ME,
Farrelly E,
Fitzpatrick DR,
Fearon C,
Fieg EL,
Fogel BL,
Forman EB,
Fox RG;
Genomics England Research Consortium,
Gahl WA,
Galosi S,
Gonzalez V,
Graves TD,
Gregory A,
Hallett M,
Hasegawa H,
Hayflick SJ,
Hamosh A,
Hully M,
Jansen S,
Jeong SY,
Krier JB,
Krystal S,
Kumar KR,
Laurencin C,
Lee H,
Lesca G,
François LL,
Lynch T,
Mahant N,
Martinez-Agosto JA,
Milesi C,
Mills KA,
Mondain M,
Morales-Briceno H;
NIHR BioResource,
Ostergaard JR,
Pal S,
Pallais JC,
Pavillard F,
Perrigault PF,
Petersen AK,
Polo G,
Poulen G,
Rinne T,
Roujeau T,
Rogers C,
Roubertie A,
Sahagian M,
Schaefer E,
Selim L,
Selway R,
Sharma N,
Signer R,
Soldatos AG,
Stevenson DA,
Stewart F,
Tchan M;
Undiagnosed Diseases Network,
Verma IC,
de Vries BBA,
Wilson JL,
Wong DA,
Zaitoun R,
Zhen D,
Znaczko A,
Dale RC,
de Gusmão CM,
Friedman J,
Fung VSC,
King MD,
Mohammad SS,
Rohena L,
Waugh JL,
Toro C,
Raymond FL,
Topf M,
Coubes P,
Gorman KM,
Kurian MA
Brain
2020 Dec 5;143(11):3242-3261.
doi: 10.1093/brain/awaa304.
PMID: 33150406Free PMC Article
Marsico P,
Frontzek-Weps V,
Balzer J,
van Hedel HJ
J Child Neurol
2017 Jan;32(1):132-138.
Epub 2016 Oct 15
doi: 10.1177/0883073816671681.
PMID: 27742862
Asmus F,
Gasser T
Eur J Neurol
2010 Jul;17 Suppl 1:37-45.
doi: 10.1111/j.1468-1331.2010.03049.x.
PMID: 20590807