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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

253 related items for PubMed ID: 29547997

  • 1.
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  • 2. De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.
    Cai S, Li J, Wu Y, Jiang Y.
    J Hum Genet; 2020 Jul; 65(7):601-608. PubMed ID: 32203252
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  • 5. Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination.
    Duchesne A, Vaiman A, Frah M, Floriot S, Legoueix-Rodriguez S, Desmazières A, Fritz S, Beauvallet C, Albaric O, Venot E, Bertaud M, Saintilan R, Guatteo R, Esquerré D, Branchu J, Fleming A, Brice A, Darios F, Vilotte JL, Stevanin G, Boichard D, El Hachimi KH.
    PLoS Genet; 2018 Aug; 14(8):e1007550. PubMed ID: 30067756
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  • 6. A 30-year history of MPAN case from Russia.
    Selikhova M, Fedotova E, Wiethoff S, Schottlaender LV, Klyushnikov S, Illarioshkin SN, Houlden H.
    Clin Neurol Neurosurg; 2017 Aug; 159():111-113. PubMed ID: 28641177
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  • 7. Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1.
    Bettencourt C, de Yébenes JG, López-Sendón JL, Shomroni O, Zhang X, Qian SB, Bakker IM, Heetveld S, Ros R, Quintáns B, Sobrido MJ, Bevova MR, Jain S, Bugiani M, Heutink P, Rizzu P.
    Cerebellum; 2015 Jun; 14(3):378-81. PubMed ID: 25592071
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  • 8. Intrafamilial variable spastic paraplegia/ataxia/ALS phenotype linked to a novel KIF5A mutation.
    Faruq M, Kumar D, Wadhwa S, Shamim U, Mathur A, Parveen S, Garg A, Srivastava AK.
    Clin Genet; 2019 Sep; 96(3):271-273. PubMed ID: 31286494
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  • 12. Spastic ataxias.
    Bereznyakova O, Dupré N.
    Handb Clin Neurol; 2018 Sep; 155():191-203. PubMed ID: 29891058
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  • 13. 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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  • 14. Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
    Iqbal Z, Rydning SL, Wedding IM, Koht J, Pihlstrøm L, Rengmark AH, Henriksen SP, Tallaksen CM, Toft M.
    PLoS One; 2017 May; 12(3):e0174667. PubMed ID: 28362824
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  • 16. Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia.
    Zocchi R, Bellacchio E, Piccione M, Scardigli R, D'Oria V, Petrini S, Baranano K, Bertini E, Sferra A.
    Front Cell Neurosci; 2023 May; 17():1162363. PubMed ID: 37435044
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  • 17. Focal dystonia in a case of SYNE1 spastic-ataxia: Expanding the phenotypic spectrum.
    Holla VV, Surisetti BK, Prasad S, Pal PK.
    Parkinsonism Relat Disord; 2021 Jun; 87():22-24. PubMed ID: 33933852
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  • 18. 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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  • 20. 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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