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Comi GP,
Dam LT,
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van der Kooi AJ,
Garrido C,
Santos M,
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Gangfuß A,
Løkken N,
Storgaard JH,
Vissing J,
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Dekomien G,
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Palmio J,
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Elke V,
De Bleecker JL,
Dominguez-González C,
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Ten Dam L,
Frankhuizen WS,
Linssen WHJP,
Straathof CS,
Niks EH,
Faber K,
Fock A,
Kuks JB,
Brusse E,
de Coo R,
Voermans N,
Verrips A,
Hoogendijk JE,
van der Pol L,
Westra D,
de Visser M,
van der Kooi AJ,
Ginjaar I
Clin Genet
2019 Aug;96(2):126-133.
Epub 2019 May 6
doi: 10.1111/cge.13544.
PMID: 30919934
Angelini C,
Giaretta L,
Marozzo R
Expert Rev Neurother
2018 Sep;18(9):693-703.
Epub 2018 Aug 21
doi: 10.1080/14737175.2018.1508997.
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Therapy
Górecki DC
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PMID: 38486238Free PMC Article
Fayssoil A,
Nardi O,
Annane D,
Orlikowski D
Acta Neurol Belg
2014 Dec;114(4):257-9.
Epub 2014 Jan 25
doi: 10.1007/s13760-013-0276-5.
PMID: 24464767
Gulati S,
Leekha S,
Sharma MC,
Kalra V
Indian Pediatr
2003 Nov;40(11):1077-81.
PMID: 14660840
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Xie Z,
Liu C,
Yu H,
Xie Z,
Sun C,
Zhu Y,
Hu X,
Bai L,
Wei L,
Sun P,
Lu Y,
Lu Y,
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Wang Z,
Meng L,
Yuan Y
Orphanet J Rare Dis
2024 Mar 14;19(1):123.
doi: 10.1186/s13023-024-03128-7.
PMID: 38486238Free PMC Article
Alonso-Pérez J,
González-Quereda L,
Bello L,
Guglieri M,
Straub V,
Gallano P,
Semplicini C,
Pegoraro E,
Zangaro V,
Nascimento A,
Ortez C,
Comi GP,
Dam LT,
De Visser M,
van der Kooi AJ,
Garrido C,
Santos M,
Schara U,
Gangfuß A,
Løkken N,
Storgaard JH,
Vissing J,
Schoser B,
Dekomien G,
Udd B,
Palmio J,
D'Amico A,
Politano L,
Nigro V,
Bruno C,
Panicucci C,
Sarkozy A,
Abdel-Mannan O,
Alonso-Jimenez A,
Claeys KG,
Gomez-Andrés D,
Munell F,
Costa-Comellas L,
Haberlová J,
Rohlenová M,
Elke V,
De Bleecker JL,
Dominguez-González C,
Tasca G,
Weiss C,
Deconinck N,
Fernández-Torrón R,
López de Munain A,
Camacho-Salas A,
Melegh B,
Hadzsiev K,
Leonardis L,
Koritnik B,
Garibaldi M,
de Leon-Hernández JC,
Malfatti E,
Fraga-Bau A,
Richard I,
Illa I,
Díaz-Manera J
Brain
2020 Sep 1;143(9):2696-2708.
doi: 10.1093/brain/awaa228.
PMID: 32875335
Angelini C,
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Ozawa E,
Noguchi S,
Mizuno Y,
Hagiwara Y,
Yoshida M
Muscle Nerve
1998 Apr;21(4):421-38.
doi: 10.1002/(sici)1097-4598(199804)21:4<421::aid-mus1>3.0.co;2-b.
PMID: 9533777