Etiology
Grossman SN,
Calix R,
Hudson T,
Rizzo JR,
Selesnick I,
Frucht S,
Galetta SL,
Balcer LJ,
Rucker JC
J Neurol Sci
2022 Nov 15;442:120436.
Epub 2022 Sep 23
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Rosini F,
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Federico A,
Rufa A
Neurol Sci
2020 Jul;41(7):1719-1734.
Epub 2020 Mar 4
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Yacovino DA,
Martin LA,
Perez Akly M,
Hain TC
PLoS One
2018;13(5):e0197079.
Epub 2018 May 30
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Blundell J,
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Chakrapani A,
Gissen P,
Hendriksz C,
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Olson A
Mol Genet Metab
2018 Feb;123(2):159-168.
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Lemos J,
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Castelo-Branco M
J Neurol Sci
2017 Feb 15;373:157-166.
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Diagnosis
Grossman SN,
Calix R,
Hudson T,
Rizzo JR,
Selesnick I,
Frucht S,
Galetta SL,
Balcer LJ,
Rucker JC
J Neurol Sci
2022 Nov 15;442:120436.
Epub 2022 Sep 23
doi: 10.1016/j.jns.2022.120436.
PMID: 36183516
Rosini F,
Pretegiani E,
Battisti C,
Dotti MT,
Federico A,
Rufa A
Neurol Sci
2020 Jul;41(7):1719-1734.
Epub 2020 Mar 4
doi: 10.1007/s10072-020-04318-4.
PMID: 32130555
Yacovino DA,
Martin LA,
Perez Akly M,
Hain TC
PLoS One
2018;13(5):e0197079.
Epub 2018 May 30
doi: 10.1371/journal.pone.0197079.
PMID: 29847602Free PMC Article
Blundell J,
Frisson S,
Chakrapani A,
Gissen P,
Hendriksz C,
Vijay S,
Olson A
Mol Genet Metab
2018 Feb;123(2):159-168.
Epub 2017 Nov 16
doi: 10.1016/j.ymgme.2017.11.004.
PMID: 29191430
Ganos C,
Biskup S,
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Meyer-Osores A,
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Hagel C,
Schöls L,
Bhatia KP,
Münchau A
Parkinsonism Relat Disord
2014 Mar;20(3):328-31.
Epub 2013 Nov 27
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Therapy
Rodríguez-Labrada R,
Velázquez-Pérez L,
Auburger G,
Ziemann U,
Canales-Ochoa N,
Medrano-Montero J,
Vázquez-Mojena Y,
González-Zaldivar Y
Mov Disord
2016 Apr;31(4):570-8.
Epub 2016 Feb 5
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PMID: 26846400
Lyseng-Williamson KA
Drugs
2014 Jan;74(1):61-74.
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PMID: 24338084
Frohman TC,
Davis SL,
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Ann N Y Acad Sci
2011 Sep;1233:313-9.
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Patterson MC,
Vecchio D,
Jacklin E,
Abel L,
Chadha-Boreham H,
Luzy C,
Giorgino R,
Wraith JE
J Child Neurol
2010 Mar;25(3):300-5.
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Solomon D,
Ramat S,
Tomsak RL,
Reich SG,
Shin RK,
Zee DS,
Leigh RJ
Ann Neurol
2008 Mar;63(3):355-65.
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PMID: 17696176
Prognosis
Blundell J,
Frisson S,
Chakrapani A,
Gissen P,
Hendriksz C,
Vijay S,
Olson A
Mol Genet Metab
2018 Feb;123(2):159-168.
Epub 2017 Nov 16
doi: 10.1016/j.ymgme.2017.11.004.
PMID: 29191430
Fernández-Fournier M,
Perry DC,
Tartaglia MC,
de May M,
Boxer A,
Coppola G,
Christine CW,
Huang EJ,
Seeley WW,
Miller BL,
DeArmond SJ,
Grinberg LT,
Geschwind MD
JAMA Neurol
2017 May 1;74(5):591-596.
doi: 10.1001/jamaneurol.2016.6159.
PMID: 28264087Free PMC Article
Rodríguez-Labrada R,
Velázquez-Pérez L,
Auburger G,
Ziemann U,
Canales-Ochoa N,
Medrano-Montero J,
Vázquez-Mojena Y,
González-Zaldivar Y
Mov Disord
2016 Apr;31(4):570-8.
Epub 2016 Feb 5
doi: 10.1002/mds.26532.
PMID: 26846400
Solomon D,
Ramat S,
Tomsak RL,
Reich SG,
Shin RK,
Zee DS,
Leigh RJ
Ann Neurol
2008 Mar;63(3):355-65.
doi: 10.1002/ana.21201.
PMID: 17696176
Baloh RW,
Yee RD,
Honrubia V
Arch Neurol
1978 Aug;35(8):484-9.
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PMID: 666604
Clinical prediction guides
Hopf S,
Pfeiffer N,
Liesenfeld M,
Mengel KE,
Hennermann JB,
Schmidtmann I,
Pitz S
Orphanet J Rare Dis
2019 Nov 14;14(1):257.
doi: 10.1186/s13023-019-1244-9.
PMID: 31727115Free PMC Article
Yacovino DA,
Martin LA,
Perez Akly M,
Hain TC
PLoS One
2018;13(5):e0197079.
Epub 2018 May 30
doi: 10.1371/journal.pone.0197079.
PMID: 29847602Free PMC Article
Blundell J,
Frisson S,
Chakrapani A,
Gissen P,
Hendriksz C,
Vijay S,
Olson A
Mol Genet Metab
2018 Feb;123(2):159-168.
Epub 2017 Nov 16
doi: 10.1016/j.ymgme.2017.11.004.
PMID: 29191430
Lyseng-Williamson KA
Drugs
2014 Jan;74(1):61-74.
doi: 10.1007/s40265-013-0164-6.
PMID: 24338084
Anastasopoulos D,
Kimmig H,
Mergner T,
Psilas K
Brain
1996 Dec;119 ( Pt 6):1923-32.
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PMID: 9009998