Etiology
Lynch DR,
Chin MP,
Delatycki MB,
Subramony SH,
Corti M,
Hoyle JC,
Boesch S,
Nachbauer W,
Mariotti C,
Mathews KD,
Giunti P,
Wilmot G,
Zesiewicz T,
Perlman S,
Goldsberry A,
O'Grady M,
Meyer CJ
Ann Neurol
2021 Feb;89(2):212-225.
Epub 2020 Nov 5
doi: 10.1002/ana.25934.
PMID: 33068037Free PMC Article
Fogel BL
Handb Clin Neurol
2018;147:187-209.
doi: 10.1016/B978-0-444-63233-3.00013-0.
PMID: 29325611
Den Dunnen WFA
Handb Clin Neurol
2017;145:383-391.
doi: 10.1016/B978-0-12-802395-2.00027-4.
PMID: 28987184
Cnop M,
Mulder H,
Igoillo-Esteve M
J Neurochem
2013 Aug;126 Suppl 1:94-102.
doi: 10.1111/jnc.12216.
PMID: 23859345
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
Coarelli G,
Wirth T,
Tranchant C,
Koenig M,
Durr A,
Anheim M
J Neurol
2023 Jan;270(1):208-222.
Epub 2022 Sep 24
doi: 10.1007/s00415-022-11383-6.
PMID: 36152050Free PMC Article
Keita M,
McIntyre K,
Rodden LN,
Schadt K,
Lynch DR
Neurodegener Dis Manag
2022 Oct;12(5):267-283.
Epub 2022 Jun 29
doi: 10.2217/nmt-2022-0011.
PMID: 35766110Free PMC Article
Kuo SH
Continuum (Minneap Minn)
2019 Aug;25(4):1036-1054.
doi: 10.1212/CON.0000000000000753.
PMID: 31356292Free PMC Article
Fogel BL
Handb Clin Neurol
2018;147:187-209.
doi: 10.1016/B978-0-444-63233-3.00013-0.
PMID: 29325611
Alper G,
Narayanan V
Pediatr Neurol
2003 May;28(5):335-41.
doi: 10.1016/s0887-8994(03)00004-3.
PMID: 12878293
Therapy
Lee A
Drugs
2023 Jun;83(8):725-729.
doi: 10.1007/s40265-023-01874-9.
PMID: 37155124
Keita M,
McIntyre K,
Rodden LN,
Schadt K,
Lynch DR
Neurodegener Dis Manag
2022 Oct;12(5):267-283.
Epub 2022 Jun 29
doi: 10.2217/nmt-2022-0011.
PMID: 35766110Free PMC Article
Lynch DR,
Chin MP,
Delatycki MB,
Subramony SH,
Corti M,
Hoyle JC,
Boesch S,
Nachbauer W,
Mariotti C,
Mathews KD,
Giunti P,
Wilmot G,
Zesiewicz T,
Perlman S,
Goldsberry A,
O'Grady M,
Meyer CJ
Ann Neurol
2021 Feb;89(2):212-225.
Epub 2020 Nov 5
doi: 10.1002/ana.25934.
PMID: 33068037Free PMC Article
Kuo SH
Continuum (Minneap Minn)
2019 Aug;25(4):1036-1054.
doi: 10.1212/CON.0000000000000753.
PMID: 31356292Free PMC Article
Cook A,
Giunti P
Br Med Bull
2017 Dec 1;124(1):19-30.
doi: 10.1093/bmb/ldx034.
PMID: 29053830Free PMC Article
Prognosis
Lynch DR,
Chin MP,
Boesch S,
Delatycki MB,
Giunti P,
Goldsberry A,
Hoyle JC,
Mariotti C,
Mathews KD,
Nachbauer W,
O'Grady M,
Perlman S,
Subramony SH,
Wilmot G,
Zesiewicz T,
Meyer CJ
Mov Disord
2023 Feb;38(2):313-320.
Epub 2022 Nov 29
doi: 10.1002/mds.29286.
PMID: 36444905
Coarelli G,
Wirth T,
Tranchant C,
Koenig M,
Durr A,
Anheim M
J Neurol
2023 Jan;270(1):208-222.
Epub 2022 Sep 24
doi: 10.1007/s00415-022-11383-6.
PMID: 36152050Free PMC Article
Keita M,
McIntyre K,
Rodden LN,
Schadt K,
Lynch DR
Neurodegener Dis Manag
2022 Oct;12(5):267-283.
Epub 2022 Jun 29
doi: 10.2217/nmt-2022-0011.
PMID: 35766110Free PMC Article
Kuo SH
Continuum (Minneap Minn)
2019 Aug;25(4):1036-1054.
doi: 10.1212/CON.0000000000000753.
PMID: 31356292Free PMC Article
Koeppen AH
Handb Clin Neurol
2018;154:129-149.
doi: 10.1016/B978-0-444-63956-1.00008-4.
PMID: 29903436Free PMC Article
Clinical prediction guides
Lynch DR,
Chin MP,
Boesch S,
Delatycki MB,
Giunti P,
Goldsberry A,
Hoyle JC,
Mariotti C,
Mathews KD,
Nachbauer W,
O'Grady M,
Perlman S,
Subramony SH,
Wilmot G,
Zesiewicz T,
Meyer CJ
Mov Disord
2023 Feb;38(2):313-320.
Epub 2022 Nov 29
doi: 10.1002/mds.29286.
PMID: 36444905
Coarelli G,
Wirth T,
Tranchant C,
Koenig M,
Durr A,
Anheim M
J Neurol
2023 Jan;270(1):208-222.
Epub 2022 Sep 24
doi: 10.1007/s00415-022-11383-6.
PMID: 36152050Free PMC Article
Corben LA,
Collins V,
Milne S,
Farmer J,
Musheno A,
Lynch D,
Subramony S,
Pandolfo M,
Schulz JB,
Lin K,
Delatycki MB;
Clinical Management Guidelines Writing Group
Orphanet J Rare Dis
2022 Nov 12;17(1):415.
doi: 10.1186/s13023-022-02568-3.
PMID: 36371255Free PMC Article
Lynch DR,
Chin MP,
Delatycki MB,
Subramony SH,
Corti M,
Hoyle JC,
Boesch S,
Nachbauer W,
Mariotti C,
Mathews KD,
Giunti P,
Wilmot G,
Zesiewicz T,
Perlman S,
Goldsberry A,
O'Grady M,
Meyer CJ
Ann Neurol
2021 Feb;89(2):212-225.
Epub 2020 Nov 5
doi: 10.1002/ana.25934.
PMID: 33068037Free PMC Article
Lynch DR,
Farmer J,
Hauser L,
Blair IA,
Wang QQ,
Mesaros C,
Snyder N,
Boesch S,
Chin M,
Delatycki MB,
Giunti P,
Goldsberry A,
Hoyle C,
McBride MG,
Nachbauer W,
O'Grady M,
Perlman S,
Subramony SH,
Wilmot GR,
Zesiewicz T,
Meyer C
Ann Clin Transl Neurol
2019 Jan;6(1):15-26.
Epub 2018 Nov 10
doi: 10.1002/acn3.660.
PMID: 30656180Free PMC Article