Etiology
Renaud M,
Tranchant C,
Koenig M,
Anheim M
Mov Disord
2020 Dec;35(12):2139-2149.
Epub 2020 Oct 12
doi: 10.1002/mds.28307.
PMID: 33044027
Amirifar P,
Ranjouri MR,
Lavin M,
Abolhassani H,
Yazdani R,
Aghamohammadi A
Expert Rev Clin Immunol
2020 Sep;16(9):859-871.
Epub 2020 Oct 15
doi: 10.1080/1744666X.2020.1810570.
PMID: 32791865
Manto M,
Gandini J,
Feil K,
Strupp M
Curr Opin Neurol
2020 Feb;33(1):150-160.
doi: 10.1097/WCO.0000000000000774.
PMID: 31789706
Palau F,
Espinós C
Orphanet J Rare Dis
2006 Nov 17;1:47.
doi: 10.1186/1750-1172-1-47.
PMID: 17112370Free PMC Article
Evidente VG,
Gwinn-Hardy KA,
Caviness JN,
Gilman S
Mayo Clin Proc
2000 May;75(5):475-90.
doi: 10.4065/75.5.475.
PMID: 10807077
Diagnosis
Spahiu L,
Behluli E,
Grajçevci-Uka V,
Liehr T,
Temaj G
J Mother Child
2022 Mar 1;26(1):118-123.
Epub 2023 Feb 22
doi: 10.34763/jmotherandchild.20222601.d-22-00034.
PMID: 36803942Free PMC Article
Dupré M,
Hermann R,
Froment Tilikete C
Cerebellum
2021 Oct;20(5):687-700.
Epub 2020 Oct 4
doi: 10.1007/s12311-020-01192-w.
PMID: 33011895Free PMC Article
Amirifar P,
Ranjouri MR,
Lavin M,
Abolhassani H,
Yazdani R,
Aghamohammadi A
Expert Rev Clin Immunol
2020 Sep;16(9):859-871.
Epub 2020 Oct 15
doi: 10.1080/1744666X.2020.1810570.
PMID: 32791865
Stamou MI,
Georgopoulos NA
Metabolism
2018 Sep;86:124-134.
Epub 2017 Nov 3
doi: 10.1016/j.metabol.2017.10.012.
PMID: 29108899Free PMC Article
Rothblum-Oviatt C,
Wright J,
Lefton-Greif MA,
McGrath-Morrow SA,
Crawford TO,
Lederman HM
Orphanet J Rare Dis
2016 Nov 25;11(1):159.
doi: 10.1186/s13023-016-0543-7.
PMID: 27884168Free PMC Article
Therapy
Kuhn K,
Lederman HM,
McGrath-Morrow SA
Expert Opin Investig Drugs
2023 Jul-Dec;32(8):693-704.
Epub 2023 Aug 28
doi: 10.1080/13543784.2023.2249399.
PMID: 37622329Free PMC Article
Woelke S,
Pommerening H,
Kieslich M,
Schubert R,
Zielen S
Growth Factors
2017 Jun;35(2-3):125-130.
doi: 10.1080/08977194.2017.1367681.
PMID: 28948852
Zlotogora J
Hum Genet
2010 Nov;128(5):473-9.
Epub 2010 Sep 18
doi: 10.1007/s00439-010-0890-8.
PMID: 20852892
Kälviäinen R,
Khyuppenen J,
Koskenkorva P,
Eriksson K,
Vanninen R,
Mervaala E
Epilepsia
2008 Apr;49(4):549-56.
Epub 2008 Mar 5
doi: 10.1111/j.1528-1167.2008.01546.x.
PMID: 18325013
Smith LL,
Conerly SL
J Am Acad Dermatol
1985 Apr;12(4):681-96.
doi: 10.1016/s0190-9622(85)70094-1.
PMID: 2580869
Prognosis
Dominik N,
Magri S,
Currò R,
Abati E,
Facchini S,
Corbetta M,
Macpherson H,
Di Bella D,
Sarto E,
Stevanovski I,
Chintalaphani SR,
Akcimen F,
Manini A,
Vegezzi E,
Quartesan I,
Montgomery KA,
Pirota V,
Crespan E,
Perini C,
Grupelli GP,
Tomaselli PJ,
Marques W;
Genomics England Research Consortium,
Shaw J,
Polke J,
Salsano E,
Fenu S,
Pareyson D,
Pisciotta C,
Tofaris GK,
Nemeth AH,
Ealing J,
Radunovic A,
Kearney S,
Kumar KR,
Vucic S,
Kennerson M,
Reilly MM,
Houlden H,
Deveson I,
Tucci A,
Taroni F,
Cortese A
Brain
2023 Dec 1;146(12):5060-5069.
doi: 10.1093/brain/awad240.
PMID: 37450567Free PMC Article
Amirifar P,
Ranjouri MR,
Lavin M,
Abolhassani H,
Yazdani R,
Aghamohammadi A
Expert Rev Clin Immunol
2020 Sep;16(9):859-871.
Epub 2020 Oct 15
doi: 10.1080/1744666X.2020.1810570.
PMID: 32791865
Arias M
Neurologia (Engl Ed)
2019 May;34(4):248-258.
Epub 2016 Jul 25
doi: 10.1016/j.nrl.2016.06.006.
PMID: 27460185
Rothblum-Oviatt C,
Wright J,
Lefton-Greif MA,
McGrath-Morrow SA,
Crawford TO,
Lederman HM
Orphanet J Rare Dis
2016 Nov 25;11(1):159.
doi: 10.1186/s13023-016-0543-7.
PMID: 27884168Free PMC Article
Palau F,
Espinós C
Orphanet J Rare Dis
2006 Nov 17;1:47.
doi: 10.1186/1750-1172-1-47.
PMID: 17112370Free PMC Article
Clinical prediction guides
Dominik N,
Magri S,
Currò R,
Abati E,
Facchini S,
Corbetta M,
Macpherson H,
Di Bella D,
Sarto E,
Stevanovski I,
Chintalaphani SR,
Akcimen F,
Manini A,
Vegezzi E,
Quartesan I,
Montgomery KA,
Pirota V,
Crespan E,
Perini C,
Grupelli GP,
Tomaselli PJ,
Marques W;
Genomics England Research Consortium,
Shaw J,
Polke J,
Salsano E,
Fenu S,
Pareyson D,
Pisciotta C,
Tofaris GK,
Nemeth AH,
Ealing J,
Radunovic A,
Kearney S,
Kumar KR,
Vucic S,
Kennerson M,
Reilly MM,
Houlden H,
Deveson I,
Tucci A,
Taroni F,
Cortese A
Brain
2023 Dec 1;146(12):5060-5069.
doi: 10.1093/brain/awad240.
PMID: 37450567Free PMC Article
Dupré M,
Hermann R,
Froment Tilikete C
Cerebellum
2021 Oct;20(5):687-700.
Epub 2020 Oct 4
doi: 10.1007/s12311-020-01192-w.
PMID: 33011895Free PMC Article
Minnerop M,
Kurzwelly D,
Wagner H,
Soehn AS,
Reichbauer J,
Tao F,
Rattay TW,
Peitz M,
Rehbach K,
Giorgetti A,
Pyle A,
Thiele H,
Altmüller J,
Timmann D,
Karaca I,
Lennarz M,
Baets J,
Hengel H,
Synofzik M,
Atasu B,
Feely S,
Kennerson M,
Stendel C,
Lindig T,
Gonzalez MA,
Stirnberg R,
Sturm M,
Roeske S,
Jung J,
Bauer P,
Lohmann E,
Herms S,
Heilmann-Heimbach S,
Nicholson G,
Mahanjah M,
Sharkia R,
Carloni P,
Brüstle O,
Klopstock T,
Mathews KD,
Shy ME,
de Jonghe P,
Chinnery PF,
Horvath R,
Kohlhase J,
Schmitt I,
Wolf M,
Greschus S,
Amunts K,
Maier W,
Schöls L,
Nürnberg P,
Zuchner S,
Klockgether T,
Ramirez A,
Schüle R
Brain
2017 Jun 1;140(6):1561-1578.
doi: 10.1093/brain/awx095.
PMID: 28459997Free PMC Article
Salomon R,
Saunier S,
Niaudet P
Pediatr Nephrol
2009 Dec;24(12):2333-44.
Epub 2008 Jul 8
doi: 10.1007/s00467-008-0840-z.
PMID: 18607645Free PMC Article
Borg M
Neurophysiol Clin
2006 Sep-Dec;36(5-6):309-18.
Epub 2007 Jan 17
doi: 10.1016/j.neucli.2006.12.006.
PMID: 17336775