Etiology
Ceravolo G,
Zhelcheska K,
Squadrito V,
Pellerin D,
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J Neurol
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Sarret C
Rev Neurol (Paris)
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Köhler W,
Curiel J,
Vanderver A
Nat Rev Neurol
2018 Feb;14(2):94-105.
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Barañano KW
Semin Neurol
2016 Aug;36(4):362-6.
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Perlman SJ,
Mar S
Adv Exp Med Biol
2012;724:154-71.
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PMID: 22411242
Diagnosis
Sarret C
Rev Neurol (Paris)
2020 Jan-Feb;176(1-2):10-19.
Epub 2019 Jun 4
doi: 10.1016/j.neurol.2019.04.003.
PMID: 31174885
Resende LL,
de Paiva ARB,
Kok F,
da Costa Leite C,
Lucato LT
Radiographics
2019 Jan-Feb;39(1):153-168.
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PMID: 30620693
Barañano KW
Semin Neurol
2016 Aug;36(4):362-6.
Epub 2016 Sep 19
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PMID: 27643905
Renaud DL
Semin Neurol
2012 Feb;32(1):3-8.
Epub 2012 Mar 15
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Perlman SJ,
Mar S
Adv Exp Med Biol
2012;724:154-71.
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PMID: 22411242
Therapy
Hamanaka K,
Miyatake S,
Zerem A,
Lev D,
Blumkin L,
Yokochi K,
Fujita A,
Imagawa E,
Iwama K,
Nakashima M,
Mitsuhashi S,
Mizuguchi T,
Takata A,
Miyake N,
Saitsu H,
van der Knaap MS,
Lerman-Sagie T,
Matsumoto N
J Hum Genet
2018 Dec;63(12):1223-1229.
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Tonduti D,
Aiello C,
Renaldo F,
Dorboz I,
Saaman S,
Rodriguez D,
Fettah H,
Elmaleh M,
Biancheri R,
Barresi S,
Boccone L,
Orcesi S,
Pichiecchio A,
Zangaglia R,
Maurey H,
Rossi A,
Boespflug-Tanguy O,
Bertini E
Eur J Paediatr Neurol
2016 Mar;20(2):323-330.
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Helman G,
Van Haren K,
Escolar ML,
Vanderver A
Pediatr Clin North Am
2015 Jun;62(3):649-66.
Epub 2015 Apr 8
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Siva K,
Covello G,
Denti MA
Nucleic Acid Ther
2014 Feb;24(1):69-86.
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PMID: 24506781Free PMC Article
Jaklin C,
Heiliger K,
Hempel M,
Sollacher D,
Cohen M,
Makowski CC,
Meitinger T,
Jauch A,
Oexle K
Eur J Med Genet
2012 Oct;55(10):568-72.
Epub 2012 Jul 7
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PMID: 22776853
Prognosis
Soderholm HE,
Chapin AB,
Bayrak-Toydemir P,
Bonkowsky JL
Pediatr Neurol
2020 Oct;111:66-69.
Epub 2020 Jun 17
doi: 10.1016/j.pediatrneurol.2020.06.005.
PMID: 32951664Free PMC Article
Köhler W,
Curiel J,
Vanderver A
Nat Rev Neurol
2018 Feb;14(2):94-105.
Epub 2018 Jan 5
doi: 10.1038/nrneurol.2017.175.
PMID: 29302065Free PMC Article
Perlman SJ,
Mar S
Adv Exp Med Biol
2012;724:154-71.
doi: 10.1007/978-1-4614-0653-2_13.
PMID: 22411242
Vanderver A
Curr Neurol Neurosci Rep
2005 Mar;5(2):110-8.
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PMID: 15743548
Barker PB,
Horská A
J Child Neurol
2004 Aug;19(8):559-70.
doi: 10.1177/088307380401900801.
PMID: 15605464
Clinical prediction guides
Soderholm HE,
Chapin AB,
Bayrak-Toydemir P,
Bonkowsky JL
Pediatr Neurol
2020 Oct;111:66-69.
Epub 2020 Jun 17
doi: 10.1016/j.pediatrneurol.2020.06.005.
PMID: 32951664Free PMC Article
Resende LL,
de Paiva ARB,
Kok F,
da Costa Leite C,
Lucato LT
Radiographics
2019 Jan-Feb;39(1):153-168.
doi: 10.1148/rg.2019180081.
PMID: 30620693
Mathis S,
Scheper GC,
Baumann N,
Petit E,
Gil R,
van der Knaap MS,
Neau JP
Clin Neurol Neurosurg
2008 Dec;110(10):1035-7.
Epub 2008 Aug 3
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Sedel F,
Tourbah A,
Fontaine B,
Lubetzki C,
Baumann N,
Saudubray JM,
Lyon-Caen O
J Inherit Metab Dis
2008 Jun;31(3):295-307.
Epub 2008 Feb 25
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PMID: 18344012
Fogli A,
Boespflug-Tanguy O
Biochem Soc Trans
2006 Feb;34(Pt 1):22-9.
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PMID: 16246171