Etiology
Van de Vondel L,
De Winter J,
Beijer D,
Coarelli G,
Wayand M,
Palvadeau R,
Pauly MG,
Klein K,
Rautenberg M,
Guillot-Noël L,
Deconinck T,
Vural A,
Ertan S,
Dogu O,
Uysal H,
Brankovic V,
Herzog R,
Brice A,
Durr A,
Klebe S,
Stock F,
Bischoff AT,
Rattay TW,
Sobrido MJ,
De Michele G,
De Jonghe P,
Klopstock T,
Lohmann K,
Zanni G,
Santorelli FM,
Timmerman V,
Haack TB,
Züchner S;
PREPARE Consortium,
Schüle R,
Stevanin G,
Synofzik M,
Basak AN,
Baets J
Mov Disord
2022 Jun;37(6):1175-1186.
Epub 2022 Feb 12
doi: 10.1002/mds.28959.
PMID: 35150594Free PMC Article
Pearson TS,
Pons R,
Ghaoui R,
Sue CM
Mov Disord
2019 May;34(5):625-636.
Epub 2019 Mar 26
doi: 10.1002/mds.27655.
PMID: 30913345
Delpont B,
Blanc C,
Osseby GV,
Hervieu-Bègue M,
Giroud M,
Béjot Y
Rev Neurol (Paris)
2018 Dec;174(10):671-674.
Epub 2018 Jul 24
doi: 10.1016/j.neurol.2017.11.011.
PMID: 30054011
Whiting PF,
Wolff RF,
Deshpande S,
Di Nisio M,
Duffy S,
Hernandez AV,
Keurentjes JC,
Lang S,
Misso K,
Ryder S,
Schmidlkofer S,
Westwood M,
Kleijnen J
JAMA
2015 Jun 23-30;313(24):2456-73.
doi: 10.1001/jama.2015.6358.
PMID: 26103030
Fink JK
Acta Neuropathol
2013 Sep;126(3):307-28.
Epub 2013 Jul 30
doi: 10.1007/s00401-013-1115-8.
PMID: 23897027Free PMC Article
Diagnosis
Pedroso JL,
Vale TC,
França Junior MC,
Kauffman MA,
Teive H,
Barsottini OGP,
Munhoz RP
Cerebellum
2022 Dec;21(6):1073-1084.
Epub 2021 Nov 15
doi: 10.1007/s12311-021-01345-5.
PMID: 34782953
Finsterer J,
Scorza FA,
Fiorini AC,
Scorza CA
Pediatr Neurol
2020 Sep;110:25-29.
Epub 2020 Jul 16
doi: 10.1016/j.pediatrneurol.2020.03.009.
PMID: 32684373
Pearson TS,
Pons R,
Ghaoui R,
Sue CM
Mov Disord
2019 May;34(5):625-636.
Epub 2019 Mar 26
doi: 10.1002/mds.27655.
PMID: 30913345
Hedera P
Continuum (Minneap Minn)
2018 Apr;24(2, Spinal Cord Disorders):523-550.
doi: 10.1212/CON.0000000000000580.
PMID: 29613898
Gulati S,
Sondhi V
Indian J Pediatr
2018 Nov;85(11):1006-1016.
Epub 2017 Nov 20
doi: 10.1007/s12098-017-2475-1.
PMID: 29152685
Therapy
Minelli C,
Luvizutto GJ,
Cacho RO,
Neves LO,
Magalhães SCSA,
Pedatella MTA,
Mendonça LIZ,
Ortiz KZ,
Lange MC,
Ribeiro PW,
Souza LAPS,
Milani C,
Cruz DMCD,
Costa RDMD,
Conforto AB,
Carvalho FMM,
Ciarlini BS,
Frota NAF,
Almeida KJ,
Schochat E,
Oliveira TP,
Miranda C,
Piemonte MEP,
Lopes LCG,
Lopes CG,
Tosin MHS,
Oliveira BC,
Oliveira BGRB,
Castro SS,
Andrade JBC,
Silva GS,
Pontes-Neto OM,
Carvalho JJF,
Martins SCO,
Bazan R
Arq Neuropsiquiatr
2022 Jul;80(7):741-758.
Epub 2022 Sep 29
doi: 10.1055/s-0042-1757692.
PMID: 36254447Free PMC Article
Bilbao A,
Spanagel R
BMC Med
2022 Aug 19;20(1):259.
doi: 10.1186/s12916-022-02459-1.
PMID: 35982439Free PMC Article
Breijyeh Z,
Jubeh B,
Bufo SA,
Karaman R,
Scrano L
Toxins (Basel)
2021 Feb 5;13(2)
doi: 10.3390/toxins13020117.
PMID: 33562446Free PMC Article
Saulino M,
Anderson DJ,
Doble J,
Farid R,
Gul F,
Konrad P,
Boster AL
Neuromodulation
2016 Aug;19(6):632-41.
Epub 2016 Jul 19
doi: 10.1111/ner.12467.
PMID: 27434299
Whiting PF,
Wolff RF,
Deshpande S,
Di Nisio M,
Duffy S,
Hernandez AV,
Keurentjes JC,
Lang S,
Misso K,
Ryder S,
Schmidlkofer S,
Westwood M,
Kleijnen J
JAMA
2015 Jun 23-30;313(24):2456-73.
doi: 10.1001/jama.2015.6358.
PMID: 26103030
Prognosis
Liu J,
Hufnagel RB
Ophthalmic Genet
2023 Dec;44(6):530-538.
Epub 2023 Nov 20
doi: 10.1080/13816810.2023.2254830.
PMID: 37732399Free PMC Article
Deneubourg C,
Ramm M,
Smith LJ,
Baron O,
Singh K,
Byrne SC,
Duchen MR,
Gautel M,
Eskelinen EL,
Fanto M,
Jungbluth H
Autophagy
2022 Mar;18(3):496-517.
Epub 2021 Aug 19
doi: 10.1080/15548627.2021.1943177.
PMID: 34130600Free PMC Article
Pearson TS,
Pons R,
Ghaoui R,
Sue CM
Mov Disord
2019 May;34(5):625-636.
Epub 2019 Mar 26
doi: 10.1002/mds.27655.
PMID: 30913345
Gulati S,
Sondhi V
Indian J Pediatr
2018 Nov;85(11):1006-1016.
Epub 2017 Nov 20
doi: 10.1007/s12098-017-2475-1.
PMID: 29152685
Saulino M,
Anderson DJ,
Doble J,
Farid R,
Gul F,
Konrad P,
Boster AL
Neuromodulation
2016 Aug;19(6):632-41.
Epub 2016 Jul 19
doi: 10.1111/ner.12467.
PMID: 27434299
Clinical prediction guides
Mo A,
Saffari A,
Kellner M,
Döbler-Neumann M,
Jordan C,
Srivastava S,
Zhang B,
Sahin M,
Fink JK,
Smith L,
Posey JE,
Alter KE,
Toro C,
Blackstone C,
Soldatos AG,
Christie M,
Schüle R,
Ebrahimi-Fakhari D
Mov Disord
2022 Dec;37(12):2440-2446.
Epub 2022 Sep 14
doi: 10.1002/mds.29225.
PMID: 36103453Free PMC Article
Acharya A,
Kavus H,
Dunn P,
Nasir A,
Folk L,
Withrow K,
Wentzensen IM,
Ruzhnikov MRZ,
Fallot C,
Smol T,
Rama M,
Brown K,
Whalen S,
Ziegler A,
Barth M,
Chassevent A,
Smith-Hicks C,
Afenjar A,
Courtin T,
Heide S,
Font-Montgomery E,
Heid C,
Hamm JA,
Love DR,
Thabet F,
Misra VK,
Cunningham M,
Leal SM,
Jarvela I,
Normand EA,
Zou F,
Helal M,
Keren B,
Torti E,
Chung WK,
Schrauwen I
J Med Genet
2022 Jul;59(7):669-677.
Epub 2021 Jul 28
doi: 10.1136/jmedgenet-2021-107871.
PMID: 34321324
Fernández-Tenorio E,
Serrano-Muñoz D,
Avendaño-Coy J,
Gómez-Soriano J
Neurologia (Engl Ed)
2019 Sep;34(7):451-460.
Epub 2016 Jul 26
doi: 10.1016/j.nrl.2016.06.009.
PMID: 27474366
Crow YJ,
Chase DS,
Lowenstein Schmidt J,
Szynkiewicz M,
Forte GM,
Gornall HL,
Oojageer A,
Anderson B,
Pizzino A,
Helman G,
Abdel-Hamid MS,
Abdel-Salam GM,
Ackroyd S,
Aeby A,
Agosta G,
Albin C,
Allon-Shalev S,
Arellano M,
Ariaudo G,
Aswani V,
Babul-Hirji R,
Baildam EM,
Bahi-Buisson N,
Bailey KM,
Barnerias C,
Barth M,
Battini R,
Beresford MW,
Bernard G,
Bianchi M,
Billette de Villemeur T,
Blair EM,
Bloom M,
Burlina AB,
Carpanelli ML,
Carvalho DR,
Castro-Gago M,
Cavallini A,
Cereda C,
Chandler KE,
Chitayat DA,
Collins AE,
Sierra Corcoles C,
Cordeiro NJ,
Crichiutti G,
Dabydeen L,
Dale RC,
D'Arrigo S,
De Goede CG,
De Laet C,
De Waele LM,
Denzler I,
Desguerre I,
Devriendt K,
Di Rocco M,
Fahey MC,
Fazzi E,
Ferrie CD,
Figueiredo A,
Gener B,
Goizet C,
Gowrinathan NR,
Gowrishankar K,
Hanrahan D,
Isidor B,
Kara B,
Khan N,
King MD,
Kirk EP,
Kumar R,
Lagae L,
Landrieu P,
Lauffer H,
Laugel V,
La Piana R,
Lim MJ,
Lin JP,
Linnankivi T,
Mackay MT,
Marom DR,
Marques Lourenço C,
McKee SA,
Moroni I,
Morton JE,
Moutard ML,
Murray K,
Nabbout R,
Nampoothiri S,
Nunez-Enamorado N,
Oades PJ,
Olivieri I,
Ostergaard JR,
Pérez-Dueñas B,
Prendiville JS,
Ramesh V,
Rasmussen M,
Régal L,
Ricci F,
Rio M,
Rodriguez D,
Roubertie A,
Salvatici E,
Segers KA,
Sinha GP,
Soler D,
Spiegel R,
Stödberg TI,
Straussberg R,
Swoboda KJ,
Suri M,
Tacke U,
Tan TY,
te Water Naude J,
Wee Teik K,
Thomas MM,
Till M,
Tonduti D,
Valente EM,
Van Coster RN,
van der Knaap MS,
Vassallo G,
Vijzelaar R,
Vogt J,
Wallace GB,
Wassmer E,
Webb HJ,
Whitehouse WP,
Whitney RN,
Zaki MS,
Zuberi SM,
Livingston JH,
Rozenberg F,
Lebon P,
Vanderver A,
Orcesi S,
Rice GI
Am J Med Genet A
2015 Feb;167A(2):296-312.
Epub 2015 Jan 16
doi: 10.1002/ajmg.a.36887.
PMID: 25604658Free PMC Article
Chou R,
Peterson K,
Helfand M
J Pain Symptom Manage
2004 Aug;28(2):140-75.
doi: 10.1016/j.jpainsymman.2004.05.002.
PMID: 15276195