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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

265 related items for PubMed ID: 30573412

  • 1. SYNE1-ataxia: Novel genotypic and phenotypic findings.
    Indelicato E, Nachbauer W, Fauth C, Krabichler B, Schossig A, Eigentler A, Dichtl W, Wenning G, Wagner M, Fanciulli A, Janecke A, Boesch S.
    Parkinsonism Relat Disord; 2019 May; 62():210-214. PubMed ID: 30573412
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  • 6. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
    Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmüller C, Baets J, Schulze M, Magri S, Sarto E, Mustafa M, Deconinck T, Haack T, Züchner S, Gonzalez M, Timmann D, Stendel C, Klopstock T, Durr A, Tranchant C, Sturm M, Hamza W, Nanetti L, Mariotti C, Koenig M, Schöls L, Schüle R, de Jonghe P, Anheim M, Taroni F, Bauer P.
    Brain; 2016 May; 139(Pt 5):1378-93. PubMed ID: 27086870
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  • 7. Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia.
    Karlsson WK, Højgaard JLS, Vilhelmsen A, Crone C, Andersen B, Law I, Møller LB, Nielsen TT, Nielsen EN, Krag T, Svenstrup K, Nielsen JE.
    Cerebellum; 2022 Jun; 21(3):514-519. PubMed ID: 34318393
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  • 10. Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
    Méreaux JL, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, Papin M, Svenningsson P, Azulay JP, Alonso I, Nilsson D, Brice A, Le Guern E, Press R, Vazza G, Loureiro JL, Goizet C, Durr A, Paucar M, Stevanin G.
    Neurogenetics; 2021 Mar; 22(1):71-79. PubMed ID: 33486633
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  • 12. Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.
    Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M.
    Ann Neurol; 2018 Jun; 83(6):1075-1088. PubMed ID: 29604224
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  • 14. A novel GBA2 gene missense mutation in spastic ataxia.
    Votsi C, Zamba-Papanicolaou E, Middleton LT, Pantzaris M, Christodoulou K.
    Ann Hum Genet; 2014 Jan; 78(1):13-22. PubMed ID: 24252062
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  • 17. Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia.
    Fellner A, Lossos A, Kogan E, Argov Z, Gonzaga-Jauregui C, Shuldiner AR, Darawshe M, Bazak L, Lidzbarsky G, Shomron N, Basel-Salmon L, Goldberg Y.
    Clin Genet; 2021 May; 99(5):713-718. PubMed ID: 33491183
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  • 19. Identifying SYNE1 ataxia and extending the mutational spectrum in Korea.
    Kim JS, Kim AR, Youn J, Lee C, Kim NS, Park WY, Park JK, Kim NKD, Cho JW.
    Parkinsonism Relat Disord; 2019 Jan; 58():74-78. PubMed ID: 30119932
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