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
Mariotti C,
Di Donato S
Neurol Sci
2001 Nov;22 Suppl 2:S88-92.
doi: 10.1007/s100720100042.
PMID: 11794486
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
Ronco R,
Perini C,
Currò R,
Dominik N,
Facchini S,
Gennari A,
Simone R,
Stuart S,
Nagy S,
Vegezzi E,
Quartesan I,
El-Saddig A,
Lavin T,
Tucci A,
Szymura A,
Novis De Farias LE,
Gary A,
Delfeld M,
Kandikatla P,
Niu N,
Tawde S,
Shaw J,
Polke J,
Reilly MM,
Wood NW,
Crespan E,
Gomez C,
Chen JYH,
Schmahmann JD,
Gosal D,
Houlden H,
Das S,
Cortese A
Neurology
2023 Jan 31;100(5):e543-e554.
Epub 2022 Oct 26
doi: 10.1212/WNL.0000000000201486.
PMID: 36289003Free 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
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
Radford DM,
Zehnbauer BA
Surg Clin North Am
1996 Apr;76(2):205-20.
doi: 10.1016/s0039-6109(05)70434-5.
PMID: 8610259
Clinical prediction guides
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
Teive HAG,
Camargo CHF,
Munhoz RP
Parkinsonism Relat Disord
2018 Jan;46:3-8.
Epub 2017 Dec 12
doi: 10.1016/j.parkreldis.2017.12.009.
PMID: 29249681
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
Radford DM,
Zehnbauer BA
Surg Clin North Am
1996 Apr;76(2):205-20.
doi: 10.1016/s0039-6109(05)70434-5.
PMID: 8610259