Etiology
Santos M,
Damásio J,
Carmona S,
Neto JL,
Dehghani N,
Guedes LC,
Barbot C,
Barros J,
Brás J,
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Cells
2022 Mar 12;11(6)
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Picher-Martel V,
Dupre N
CNS Neurol Disord Drug Targets
2018;17(3):161-171.
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Coutelier M,
Hammer MB,
Stevanin G,
Monin ML,
Davoine CS,
Mochel F,
Labauge P,
Ewenczyk C,
Ding J,
Gibbs JR,
Hannequin D,
Melki J,
Toutain A,
Laugel V,
Forlani S,
Charles P,
Broussolle E,
Thobois S,
Afenjar A,
Anheim M,
Calvas P,
Castelnovo G,
de Broucker T,
Vidailhet M,
Moulignier A,
Ghnassia RT,
Tallaksen C,
Mignot C,
Goizet C,
Le Ber I,
Ollagnon-Roman E,
Pouget J,
Brice A,
Singleton A,
Durr A;
Spastic Paraplegia and Ataxia Network
JAMA Neurol
2018 May 1;75(5):591-599.
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PMID: 29482223Free PMC Article
Chelban V,
Patel N,
Vandrovcova J,
Zanetti MN,
Lynch DS,
Ryten M,
Botía JA,
Bello O,
Tribollet E,
Efthymiou S,
Davagnanam I;
SYNAPSE Study Group,
Bashiri FA,
Wood NW,
Rothman JE,
Alkuraya FS,
Houlden H
Am J Hum Genet
2017 Jun 1;100(6):969-977.
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Can J Neurol Sci
2009 Jul;36(4):409-28.
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Diagnosis
Vural A,
Şimşir G,
Tekgül Ş,
Koçoğlu C,
Akçimen F,
Kartal E,
Şen NE,
Lahut S,
Ömür Ö,
Saner N,
Gül T,
Bayraktar E,
Palvadeau R,
Tunca C,
Pirkevi Çetinkaya C,
Gündoğdu Eken A,
Şahbaz I,
Kovancılar Koç M,
Öztop Çakmak Ö,
Hanağası H,
Bilgiç B,
Eraksoy M,
Gündüz A,
Apaydın H,
Kızıltan G,
Özekmekçi S,
Siva A,
Altıntaş A,
Kaya Güleç ZE,
Parman Y,
Oflazer P,
Deymeer F,
Durmuş H,
Şahin E,
Çakar A,
Tüfekçioğlu Z,
Tektürk P,
Çorbalı MO,
Tireli H,
Akdal G,
Yiş U,
Hız S,
Şengün İ,
Bora E,
Serdaroğlu G,
Erer Özbek S,
Ağan K,
İnce Günal D,
Us Ö,
Kurt SG,
Aksoy D,
Bora Tokçaer A,
Elmas M,
Gültekin M,
Kumandaş S,
Acer H,
Kaya Özçora GD,
Yayla V,
Soysal A,
Genç G,
Güllüoğlu H,
Kotan D,
Özözen Ayas Z,
Şahin HA,
Tan E,
Topçu M,
Topçuoğlu ES,
Akbostancı C,
Koç F,
Ertan S,
Elibol B,
Başak AN
Mov Disord
2021 Jul;36(7):1676-1688.
Epub 2021 Feb 24
doi: 10.1002/mds.28518.
PMID: 33624863
Dosi C,
Galatolo D,
Rubegni A,
Doccini S,
Pasquariello R,
Nesti C,
Sicca F,
Barghigiani M,
Battini R,
Tessa A,
Santorelli FM
Ann Clin Transl Neurol
2020 Apr;7(4):595-601.
Epub 2020 Apr 1
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PMID: 32237276Free PMC Article
Picher-Martel V,
Dupre N
CNS Neurol Disord Drug Targets
2018;17(3):161-171.
doi: 10.2174/1871527317666180419115029.
PMID: 29676235
Coutelier M,
Hammer MB,
Stevanin G,
Monin ML,
Davoine CS,
Mochel F,
Labauge P,
Ewenczyk C,
Ding J,
Gibbs JR,
Hannequin D,
Melki J,
Toutain A,
Laugel V,
Forlani S,
Charles P,
Broussolle E,
Thobois S,
Afenjar A,
Anheim M,
Calvas P,
Castelnovo G,
de Broucker T,
Vidailhet M,
Moulignier A,
Ghnassia RT,
Tallaksen C,
Mignot C,
Goizet C,
Le Ber I,
Ollagnon-Roman E,
Pouget J,
Brice A,
Singleton A,
Durr A;
Spastic Paraplegia and Ataxia Network
JAMA Neurol
2018 May 1;75(5):591-599.
doi: 10.1001/jamaneurol.2017.5121.
PMID: 29482223Free PMC Article
Chelban V,
Patel N,
Vandrovcova J,
Zanetti MN,
Lynch DS,
Ryten M,
Botía JA,
Bello O,
Tribollet E,
Efthymiou S,
Davagnanam I;
SYNAPSE Study Group,
Bashiri FA,
Wood NW,
Rothman JE,
Alkuraya FS,
Houlden H
Am J Hum Genet
2017 Jun 1;100(6):969-977.
doi: 10.1016/j.ajhg.2017.05.009.
PMID: 28575651Free PMC Article
Therapy
Al-Muhaizea MA,
AlQuait L,
AlRasheed A,
AlHarbi S,
Albader AA,
AlMass R,
Albakheet A,
Alhumaidan A,
AlRasheed MM,
Colak D,
Kaya N
Neuromuscul Disord
2020 Jul;30(7):611-615.
Epub 2020 May 15
doi: 10.1016/j.nmd.2020.04.007.
PMID: 32616363
Picher-Martel V,
Dupre N
CNS Neurol Disord Drug Targets
2018;17(3):161-171.
doi: 10.2174/1871527317666180419115029.
PMID: 29676235
Mrissa N,
Belal S,
Hamida CB,
Amouri R,
Turki I,
Mrissa R,
Hamida MB,
Hentati F
Neurology
2000 Apr 11;54(7):1408-14.
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Prognosis
Dosi C,
Galatolo D,
Rubegni A,
Doccini S,
Pasquariello R,
Nesti C,
Sicca F,
Barghigiani M,
Battini R,
Tessa A,
Santorelli FM
Ann Clin Transl Neurol
2020 Apr;7(4):595-601.
Epub 2020 Apr 1
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PMID: 32237276Free PMC Article
van de Warrenburg BP,
van Gaalen J,
Boesch S,
Burgunder JM,
Dürr A,
Giunti P,
Klockgether T,
Mariotti C,
Pandolfo M,
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Eur J Neurol
2014 Apr;21(4):552-62.
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PMID: 24418350
Anheim M,
Fleury M,
Monga B,
Laugel V,
Chaigne D,
Rodier G,
Ginglinger E,
Boulay C,
Courtois S,
Drouot N,
Fritsch M,
Delaunoy JP,
Stoppa-Lyonnet D,
Tranchant C,
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Neurogenetics
2010 Feb;11(1):1-12.
Epub 2009 May 14
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PMID: 19440741
Di Donato S,
Gellera C,
Mariotti C
Neurol Sci
2001 Jun;22(3):219-28.
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Clinical prediction guides
Magri S,
Fracasso V,
Plumari M,
Alfei E,
Ghezzi D,
Gellera C,
Rusmini P,
Poletti A,
Di Bella D,
Elia AE,
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Hum Mutat
2018 Dec;39(12):2060-2071.
Epub 2018 Oct 10
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PMID: 30252181
Chelban V,
Patel N,
Vandrovcova J,
Zanetti MN,
Lynch DS,
Ryten M,
Botía JA,
Bello O,
Tribollet E,
Efthymiou S,
Davagnanam I;
SYNAPSE Study Group,
Bashiri FA,
Wood NW,
Rothman JE,
Alkuraya FS,
Houlden H
Am J Hum Genet
2017 Jun 1;100(6):969-977.
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PMID: 28575651Free PMC Article
Lessard I,
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Côté I,
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