Etiology
Filges I,
Jünemann S,
Viehweger E,
Tercanli S
Prenat Diagn
2023 Jun;43(6):798-805.
Epub 2023 Jan 12
doi: 10.1002/pd.6299.
PMID: 36588183
Hall JG,
Kimber E,
van Bosse HJP
J Pediatr Orthop
2017 Jul/Aug;37 Suppl 1:S4-S8.
doi: 10.1097/BPO.0000000000000997.
PMID: 28594686
van Bosse HJ
Foot Ankle Clin
2015 Dec;20(4):619-44.
Epub 2015 Oct 21
doi: 10.1016/j.fcl.2015.07.010.
PMID: 26589082
Zekanowski C,
Religa D,
Graff C,
Filipek S,
Kuźnicki J
Acta Neurobiol Exp (Wars)
2004;64(1):19-31.
doi: 10.55782/ane-2004-1488.
PMID: 15190677
Preus M,
Fraser FC
Am J Dis Child
1972 Dec;124(6):933-43.
doi: 10.1001/archpedi.1972.02110180135022.
PMID: 4265019
Diagnosis
Langston S,
Chu A
Pediatr Ann
2020 Jul 1;49(7):e299-e304.
doi: 10.3928/19382359-20200624-01.
PMID: 32674167
Attarian S,
Fatehi F,
Rajabally YA,
Pareyson D
J Neurol
2020 Aug;267(8):2198-2206.
Epub 2019 Apr 15
doi: 10.1007/s00415-019-09319-8.
PMID: 30989370
Society for Maternal-Fetal Medicine,
Rac MWF,
McKinney J,
Gandhi M
Am J Obstet Gynecol
2019 Dec;221(6):B7-B9.
doi: 10.1016/j.ajog.2019.09.021.
PMID: 31787162
Hall JG,
Kimber E,
Dieterich K
Am J Med Genet C Semin Med Genet
2019 Sep;181(3):300-303.
Epub 2019 Jul 4
doi: 10.1002/ajmg.c.31716.
PMID: 31271512
Hall JG,
Kimber E,
van Bosse HJP
J Pediatr Orthop
2017 Jul/Aug;37 Suppl 1:S4-S8.
doi: 10.1097/BPO.0000000000000997.
PMID: 28594686
Therapy
Badura-Stronka M,
Kuszel Ł,
Wencel-Warot A,
Cudnoch K,
Wołyńska K,
Rutkowska K,
Steinborn B,
Płoski R
Epilepsy Res
2023 Feb;190:107101.
Epub 2023 Feb 1
doi: 10.1016/j.eplepsyres.2023.107101.
PMID: 36758444
Thakker A,
Sharma SC,
Hussain NM,
Devani P,
Lahiri A
J Plast Reconstr Aesthet Surg
2021 Mar;74(3):549-559.
Epub 2020 Nov 8
doi: 10.1016/j.bjps.2020.10.085.
PMID: 33268044
Anderson TA,
Kasser JR,
Holzman RS
Paediatr Anaesth
2014 May;24(5):538-40.
doi: 10.1111/pan.12303.
PMID: 24829975
Benca J,
Hogan K
Anesth Analg
2009 Oct;109(4):1049-53.
doi: 10.1213/ane.0b013e3181adca28.
PMID: 19762731
Dinger J,
Prager B
Neuromuscul Disord
1993 Jul;3(4):335-9.
doi: 10.1016/0960-8966(93)90027-h.
PMID: 8268731
Prognosis
Langston S,
Chu A
Pediatr Ann
2020 Jul 1;49(7):e299-e304.
doi: 10.3928/19382359-20200624-01.
PMID: 32674167
Society for Maternal-Fetal Medicine,
Rac MWF,
McKinney J,
Gandhi M
Am J Obstet Gynecol
2019 Dec;221(6):B7-B9.
doi: 10.1016/j.ajog.2019.09.021.
PMID: 31787162
Mennen U,
van Heest A,
Ezaki MB,
Tonkin M,
Gericke G
J Hand Surg Br
2005 Oct;30(5):468-74.
doi: 10.1016/j.jhsb.2005.06.004.
PMID: 16061316
Sztriha L,
Al-Gazali L,
Várady E,
Nork M,
Varughese M
Pediatr Neurol
1998 Apr;18(4):362-5.
doi: 10.1016/s0887-8994(97)00213-0.
PMID: 9588537
Hall JG
Am Fam Physician
1989 Jan;39(1):113-9.
PMID: 2643273
Clinical prediction guides
Saffari A,
Lau T,
Tajsharghi H,
Karimiani EG,
Kariminejad A,
Efthymiou S,
Zifarelli G,
Sultan T,
Toosi MB,
Sedighzadeh S,
Siu VM,
Ortigoza-Escobar JD,
AlShamsi AM,
Ibrahim S,
Al-Sannaa NA,
Al-Hertani W,
Sandra W,
Tarnopolsky M,
Alavi S,
Li C,
Day-Salvatore DL,
Martínez-González MJ,
Levandoski KM,
Bedoukian E,
Madan-Khetarpal S,
Idleburg MJ,
Menezes MJ,
Siddharth A,
Platzer K,
Oppermann H,
Smitka M,
Collins F,
Lek M,
Shahrooei M,
Ghavideldarestani M,
Herman I,
Rendu J,
Faure J,
Baker J,
Bhambhani V,
Calderwood L,
Akhondian J,
Imannezhad S,
Mirzadeh HS,
Hashemi N,
Doosti M,
Safi M,
Ahangari N,
Torbati PN,
Abedini S,
Salpietro V,
Gulec EY,
Eshaghian S,
Ghazavi M,
Pascher MT,
Vogel M,
Abicht A,
Moutton S,
Bruel AL,
Rieubland C,
Gallati S,
Strom TM,
Lochmüller H,
Mohammadi MH,
Alvi JR,
Zackai EH,
Keena BA,
Skraban CM,
Berger SI,
Andrew EH,
Rahimian E,
Morrow MM,
Wentzensen IM,
Millan F,
Henderson LB,
Dafsari HS,
Jungbluth H,
Gomez-Ospina N,
McRae A,
Peter M,
Veltra D,
Marinakis NM,
Sofocleous C,
Ashrafzadeh F,
Pehlivan D,
Lemke JR,
Melki J,
Benezit A,
Bauer P,
Weis D,
Lupski JR,
Senderek J,
Christodoulou J,
Chung WK,
Goodchild R,
Offiah AC,
Moreno-De-Luca A,
Suri M,
Ebrahimi-Fakhari D,
Houlden H,
Maroofian R
Brain
2023 Aug 1;146(8):3273-3288.
doi: 10.1093/brain/awad039.
PMID: 36757831Free PMC Article
Laquerriere A,
Jaber D,
Abiusi E,
Maluenda J,
Mejlachowicz D,
Vivanti A,
Dieterich K,
Stoeva R,
Quevarec L,
Nolent F,
Biancalana V,
Latour P,
Sternberg D,
Capri Y,
Verloes A,
Bessieres B,
Loeuillet L,
Attie-Bitach T,
Martinovic J,
Blesson S,
Petit F,
Beneteau C,
Whalen S,
Marguet F,
Bouligand J,
Héron D,
Viot G,
Amiel J,
Amram D,
Bellesme C,
Bucourt M,
Faivre L,
Jouk PS,
Khung S,
Sigaudy S,
Delezoide AL,
Goldenberg A,
Jacquemont ML,
Lambert L,
Layet V,
Lyonnet S,
Munnich A,
Van Maldergem L,
Piard J,
Guimiot F,
Landrieu P,
Letard P,
Pelluard F,
Perrin L,
Saint-Frison MH,
Topaloglu H,
Trestard L,
Vincent-Delorme C,
Amthor H,
Barnerias C,
Benachi A,
Bieth E,
Boucher E,
Cormier-Daire V,
Delahaye-Duriez A,
Desguerre I,
Eymard B,
Francannet C,
Grotto S,
Lacombe D,
Laffargue F,
Legendre M,
Martin-Coignard D,
Mégarbané A,
Mercier S,
Nizon M,
Rigonnot L,
Prieur F,
Quélin C,
Ranjatoelina-Randrianaivo H,
Resta N,
Toutain A,
Verhelst H,
Vincent M,
Colin E,
Fallet-Bianco C,
Granier M,
Grigorescu R,
Saada J,
Gonzales M,
Guiochon-Mantel A,
Bessereau JL,
Tawk M,
Gut I,
Gitiaux C,
Melki J
J Med Genet
2022 Jun;59(6):559-567.
Epub 2021 Apr 5
doi: 10.1136/jmedgenet-2020-107595.
PMID: 33820833Free PMC Article
Vetro A,
Nielsen HN,
Holm R,
Hevner RF,
Parrini E,
Powis Z,
Møller RS,
Bellan C,
Simonati A,
Lesca G,
Helbig KL,
Palmer EE,
Mei D,
Ballardini E,
Van Haeringen A,
Syrbe S,
Leuzzi V,
Cioni G,
Curry CJ,
Costain G,
Santucci M,
Chong K,
Mancini GMS,
Clayton-Smith J,
Bigoni S,
Scheffer IE,
Dobyns WB,
Vilsen B,
Guerrini R;
ATP1A2/A3-collaborators
Brain
2021 Jun 22;144(5):1435-1450.
doi: 10.1093/brain/awab052.
PMID: 33880529
Ravenscroft G,
Clayton JS,
Faiz F,
Sivadorai P,
Milnes D,
Cincotta R,
Moon P,
Kamien B,
Edwards M,
Delatycki M,
Lamont PJ,
Chan SH,
Colley A,
Ma A,
Collins F,
Hennington L,
Zhao T,
McGillivray G,
Ghedia S,
Chao K,
O'Donnell-Luria A,
Laing NG,
Davis MR
J Med Genet
2021 Sep;58(9):609-618.
Epub 2020 Oct 15
doi: 10.1136/jmedgenet-2020-106901.
PMID: 33060286Free PMC Article
Poling MI,
Dufresne CR,
Chamberlain RL
Orphanet J Rare Dis
2019 Jan 10;14(1):14.
doi: 10.1186/s13023-018-0984-2.
PMID: 30630514Free PMC Article