Etiology
Oguri M,
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Andréasson M,
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Sci Rep
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PMID: 31653957Free PMC Article
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Belmatoug N,
Camou F,
Serratrice C,
Froissart R,
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Brassier A,
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Int J Mol Sci
2017 Feb 17;18(2)
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PMID: 28218669Free PMC Article
Stirnemann J,
Rose C,
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Pers YM,
Baron C,
Belmatoug N
Orphanet J Rare Dis
2015 May 13;10:62.
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PMID: 25968608Free PMC Article
Diagnosis
Gumus E,
Karhan AN,
Hizarcioglu-Gulsen H,
Demir H,
Ozen H,
Saltik Temizel IN,
Dokmeci Emre S,
Yuce A
Eur J Med Genet
2021 Nov;64(11):104339.
Epub 2021 Sep 6
doi: 10.1016/j.ejmg.2021.104339.
PMID: 34500086
Stirnemann J,
Belmatoug N,
Camou F,
Serratrice C,
Froissart R,
Caillaud C,
Levade T,
Astudillo L,
Serratrice J,
Brassier A,
Rose C,
Billette de Villemeur T,
Berger MG
Int J Mol Sci
2017 Feb 17;18(2)
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PMID: 28218669Free PMC Article
Choy FY,
Zhang W,
Shi HP,
Zay A,
Campbell T,
Tang N,
Ferreira P
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Therapy
Gumus E,
Karhan AN,
Hizarcioglu-Gulsen H,
Demir H,
Ozen H,
Saltik Temizel IN,
Dokmeci Emre S,
Yuce A
Eur J Med Genet
2021 Nov;64(11):104339.
Epub 2021 Sep 6
doi: 10.1016/j.ejmg.2021.104339.
PMID: 34500086
Stirnemann J,
Rose C,
Serratrice C,
Dalbies F,
Lidove O,
Masseau A,
Pers YM,
Baron C,
Belmatoug N
Orphanet J Rare Dis
2015 May 13;10:62.
doi: 10.1186/s13023-015-0275-0.
PMID: 25968608Free PMC Article
Pandi S,
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Arch Neurol
1993 Nov;50(11):1212-24.
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Prognosis
Stirnemann J,
Belmatoug N,
Camou F,
Serratrice C,
Froissart R,
Caillaud C,
Levade T,
Astudillo L,
Serratrice J,
Brassier A,
Rose C,
Billette de Villemeur T,
Berger MG
Int J Mol Sci
2017 Feb 17;18(2)
doi: 10.3390/ijms18020441.
PMID: 28218669Free PMC Article
Stirnemann J,
Rose C,
Serratrice C,
Dalbies F,
Lidove O,
Masseau A,
Pers YM,
Baron C,
Belmatoug N
Orphanet J Rare Dis
2015 May 13;10:62.
doi: 10.1186/s13023-015-0275-0.
PMID: 25968608Free PMC Article
Choy FY,
Zhang W,
Shi HP,
Zay A,
Campbell T,
Tang N,
Ferreira P
Blood Cells Mol Dis
2007 May-Jun;38(3):287-93.
Epub 2006 Dec 29
doi: 10.1016/j.bcmd.2006.11.003.
PMID: 17196853
Clinical prediction guides
Gumus E,
Karhan AN,
Hizarcioglu-Gulsen H,
Demir H,
Ozen H,
Saltik Temizel IN,
Dokmeci Emre S,
Yuce A
Eur J Med Genet
2021 Nov;64(11):104339.
Epub 2021 Sep 6
doi: 10.1016/j.ejmg.2021.104339.
PMID: 34500086
Andréasson M,
Solders G,
Björkvall CK,
Machaczka M,
Svenningsson P
Sci Rep
2019 Oct 25;9(1):15358.
doi: 10.1038/s41598-019-51976-2.
PMID: 31653957Free PMC Article
Stirnemann J,
Rose C,
Serratrice C,
Dalbies F,
Lidove O,
Masseau A,
Pers YM,
Baron C,
Belmatoug N
Orphanet J Rare Dis
2015 May 13;10:62.
doi: 10.1186/s13023-015-0275-0.
PMID: 25968608Free PMC Article
Levy H,
Or A,
Eyal N,
Wilder S,
Widgerson M,
Kolodny EH,
Zimran A,
Horowitz M
Dev Neurosci
1991;13(4-5):352-62.
doi: 10.1159/000112185.
PMID: 1817042
Eyal N,
Wilder S,
Horowitz M
Gene
1990 Dec 15;96(2):277-83.
doi: 10.1016/0378-1119(90)90264-r.
PMID: 2269438