Etiology
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,
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van der Pol L,
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de Visser M,
van der Kooi AJ,
Ginjaar I
Clin Genet
2019 Aug;96(2):126-133.
Epub 2019 May 6
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Angelini C,
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Expert Rev Neurother
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Fayssoil A,
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Acta Neurol Belg
2014 Dec;114(4):257-9.
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2005 Jan;72(1):71-4.
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Gulati S,
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Indian Pediatr
2003 Nov;40(11):1077-81.
PMID: 14660840
Diagnosis
Benzi A,
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Sturla L,
Panicucci C,
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Gazzerro E,
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Lab Invest
2023 Mar;103(3):100037.
Epub 2023 Jan 10
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PMID: 36925196
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.
PMID: 30084281
Kapoor S,
Tatke M,
Aggarwal S,
Gupta A
Indian J Pediatr
2005 Jan;72(1):71-4.
doi: 10.1007/BF02760585.
PMID: 15684453
Gulati S,
Leekha S,
Sharma MC,
Kalra V
Indian Pediatr
2003 Nov;40(11):1077-81.
PMID: 14660840
Therapy
Górecki DC
Curr Opin Pharmacol
2019 Aug;47:40-45.
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Maruyama R,
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Methods Mol Biol
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Methods Mol Biol
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PMID: 29067661
Herson S,
Hentati F,
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Behin A,
Romero NB,
Leturcq F,
Laforêt P,
Maisonobe T,
Amouri R,
Haddad H,
Audit M,
Montus M,
Masurier C,
Gjata B,
Georger C,
Cheraï M,
Carlier P,
Hogrel JY,
Herson A,
Allenbach Y,
Lemoine FM,
Klatzmann D,
Sweeney HL,
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Brain
2012 Feb;135(Pt 2):483-92.
Epub 2012 Jan 11
doi: 10.1093/brain/awr342.
PMID: 22240777
Baumeister SK,
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Neuromuscul Disord
2009 Feb;19(2):167-71.
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Prognosis
Alonso-Pérez J,
González-Quereda L,
Bruno C,
Panicucci C,
Alavi A,
Nafissi S,
Nilipour Y,
Zanoteli E,
Isihi LMA,
Melegh B,
Hadzsiev K,
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Vílchez JJ,
Dourado ME,
Kadem N,
Kutluk G,
Umair M,
Younus M,
Pegorano E,
Bello L,
Crawford TO,
Suárez-Calvet X,
Töpf A,
Guglieri M,
Marini-Bettolo C,
Gallano P,
Straub V,
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Brain
2022 Apr 18;145(2):596-606.
doi: 10.1093/brain/awab301.
PMID: 34515763Free PMC Article
Cotta A,
Carvalho E,
da-Cunha-Júnior AL,
Paim JF,
Navarro MM,
Valicek J,
Menezes MM,
Nunes SV,
Xavier Neto R,
Takata RI,
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Arq Neuropsiquiatr
2014 Sep;72(9):721-34.
doi: 10.1590/0004-282x20140110.
PMID: 25252238
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
Ozawa E,
Noguchi S,
Mizuno Y,
Hagiwara Y,
Yoshida M
Muscle Nerve
1998 Apr;21(4):421-38.
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PMID: 9533777
Clinical prediction guides
Xie Z,
Liu C,
Yu H,
Xie Z,
Sun C,
Zhu Y,
Hu X,
Bai L,
Wei L,
Sun P,
Lu Y,
Lu Y,
Zhao Y,
Zhang W,
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,
Bruno C,
Panicucci C,
Alavi A,
Nafissi S,
Nilipour Y,
Zanoteli E,
Isihi LMA,
Melegh B,
Hadzsiev K,
Muelas N,
Vílchez JJ,
Dourado ME,
Kadem N,
Kutluk G,
Umair M,
Younus M,
Pegorano E,
Bello L,
Crawford TO,
Suárez-Calvet X,
Töpf A,
Guglieri M,
Marini-Bettolo C,
Gallano P,
Straub V,
Díaz-Manera J
Brain
2022 Apr 18;145(2):596-606.
doi: 10.1093/brain/awab301.
PMID: 34515763Free PMC Article
Angelini C,
Tasca E
Neuromuscul Disord
2012 Dec;22 Suppl 3(3-3):S214-20.
doi: 10.1016/j.nmd.2012.10.010.
PMID: 23182642Free PMC Article
Nalini A,
Gayathri N,
Thaha F,
Das S,
Shylashree S
Neurol India
2010 Sep-Oct;58(5):691-6.
doi: 10.4103/0028-3886.72164.
PMID: 21045489
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