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Journal Abstract Search

115 related items for PubMed ID: 28455667

  • 1. Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A.
    Balck A, Hanssen H, Hellenbroich Y, Lohmann K, Münchau A.
    J Neurol; 2017 Jul; 264(7):1520-1522. PubMed ID: 28455667
    [No Abstract] [Full Text] [Related]

  • 2. Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities.
    Al Dhaibani MA, El-Hattab AW, Holroyd KB, Orthmann-Murphy J, Larson VA, Siddiqui KA, Szolics M, Schiess N.
    J Neurogenet; 2018 Mar; 32(1):1-5. PubMed ID: 29191078
    [Abstract] [Full Text] [Related]

  • 3. Eye movement disorders are an early manifestation of CACNA1A mutations in children.
    Tantsis EM, Gill D, Griffiths L, Gupta S, Lawson J, Maksemous N, Ouvrier R, Riant F, Smith R, Troedson C, Webster R, Menezes MP.
    Dev Med Child Neurol; 2016 Jun; 58(6):639-44. PubMed ID: 26814174
    [Abstract] [Full Text] [Related]

  • 4. Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.
    Lacaria M, Srour M, Michaud JL, Doja A, Miller E, Schwartzentruber J, Goldsmith C, Majewski J, FORGE Canada Consortium, Boycott KM.
    Am J Med Genet A; 2017 Jun; 173(6):1611-1619. PubMed ID: 28432728
    [Abstract] [Full Text] [Related]

  • 5. Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.
    Kim M, Sandford E, Gatica D, Qiu Y, Liu X, Zheng Y, Schulman BA, Xu J, Semple I, Ro SH, Kim B, Mavioglu RN, Tolun A, Jipa A, Takats S, Karpati M, Li JZ, Yapici Z, Juhasz G, Lee JH, Klionsky DJ, Burmeister M.
    Elife; 2016 Jan 26; 5():. PubMed ID: 26812546
    [Abstract] [Full Text] [Related]

  • 6. Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2.
    Sivák Š, Kurča E, Krajčiová A, Hikkelová M, Šimko J, Mišovicová N, Kantorová E, Turčanová-Koprušáková M, Burjanivová T, Čierny D, Nosál' V.
    J Neurol Sci; 2017 May 15; 376():119-120. PubMed ID: 28431595
    [No Abstract] [Full Text] [Related]

  • 7. Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency.
    DiBacco ML, Pop A, Salomons GS, Hanson E, Roullet JB, Gibson KM, Pearl PL.
    Neurology; 2020 Nov 10; 95(19):e2675-e2682. PubMed ID: 32887777
    [Abstract] [Full Text] [Related]

  • 8. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
    Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL, Zoghbi HY.
    Cell; 2018 Feb 22; 172(5):924-936.e11. PubMed ID: 29474920
    [Abstract] [Full Text] [Related]

  • 9. Stepwise developmental regression associated with novel CACNA1A mutation.
    Guerin AA, Feigenbaum A, Donner EJ, Yoon G.
    Pediatr Neurol; 2008 Nov 22; 39(5):363-4. PubMed ID: 18940563
    [Abstract] [Full Text] [Related]

  • 10. De novo duplication of chromosome 13(q32-q34) in a child with developmental delay.
    Milani D, D'Arrigo S, Guerneri S, Selicorni A, Riva D, Pantaleoni C.
    J Child Neurol; 2006 Dec 22; 21(12):1084-5. PubMed ID: 17156706
    [Abstract] [Full Text] [Related]

  • 11. Progressive Ataxia due to de novo Missense Variants in the CACNA1A Gene.
    Zhu CH, Yu JY, Ma Y, Dong Y, Wu ZY.
    Cerebellum; 2024 Oct 22; 23(5):2197-2204. PubMed ID: 38869769
    [Abstract] [Full Text] [Related]

  • 12. The ataxic groggy rat has a missense mutation in the P/Q-type voltage-gated Ca2+ channel alpha1A subunit gene and exhibits absence seizures.
    Tokuda S, Kuramoto T, Tanaka K, Kaneko S, Takeuchi IK, Sasa M, Serikawa T.
    Brain Res; 2007 Feb 16; 1133(1):168-77. PubMed ID: 17196942
    [Abstract] [Full Text] [Related]

  • 13. Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.
    Cuenca-León E, Banchs I, Serra SA, Latorre P, Fernàndez-Castillo N, Corominas R, Valverde MA, Volpini V, Fernández-Fernández JM, Macaya A, Cormand B.
    J Neurol Sci; 2009 May 15; 280(1-2):10-4. PubMed ID: 19232643
    [Abstract] [Full Text] [Related]

  • 14. Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2.
    Petrovicova A, Brozman M, Kurca E, Gobo T, Dluha J, Kalmarova K, Nosal V, Hikkelova M, Krajciova A, Burjanivova T, Sivak S.
    Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2017 Mar 15; 161(1):107-110. PubMed ID: 28096552
    [Abstract] [Full Text] [Related]

  • 15. A Novel Frameshift CACNA1A Mutation Causing Episodic Ataxia Type 2.
    Balck A, Tunc S, Schmitz J, Hollstein R, Kaiser FJ, Brüggemann N.
    Cerebellum; 2018 Aug 15; 17(4):504-506. PubMed ID: 29497979
    [No Abstract] [Full Text] [Related]

  • 16. A novel CACNA1A variant in a child with early stroke and intractable epilepsy.
    Gudenkauf FJ, Azamian MS, Hunter JV, Nayak A, Lalani SR.
    Mol Genet Genomic Med; 2020 Oct 15; 8(10):e1383. PubMed ID: 32692472
    [Abstract] [Full Text] [Related]

  • 17. Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
    García Segarra N, Gautschi I, Mittaz-Crettol L, Kallay Zetchi C, Al-Qusairi L, Van Bemmelen MX, Maeder P, Bonafé L, Schild L, Roulet-Perez E.
    J Neurol Sci; 2014 Jul 15; 342(1-2):69-78. PubMed ID: 24836863
    [Abstract] [Full Text] [Related]

  • 18. Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
    Tonelli A, D'Angelo MG, Salati R, Villa L, Germinasi C, Frattini T, Meola G, Turconi AC, Bresolin N, Bassi MT.
    J Neurol Sci; 2006 Feb 15; 241(1-2):13-7. PubMed ID: 16325861
    [Abstract] [Full Text] [Related]

  • 19. [Missense mutation R1345Q in CACNA1A gene causes a new type of ataxia with episodic tremor: clinical features, genetic analysis and treatment in a familial case].
    Jiang HS, Wang DM, Wang Q, Yang M, Wang W, Pan SY, Hu YF.
    Nan Fang Yi Ke Da Xue Xue Bao; 2016 Jun 20; 36(7):883-6. PubMed ID: 27435762
    [Abstract] [Full Text] [Related]

  • 20. Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.
    Stern D, Cho MT, Chikarmane R, Willaert R, Retterer K, Kendall F, Deardorff M, Hopkins S, Bedoukian E, Slavotinek A, Schrier Vergano S, Spangler B, McDonald M, McConkie-Rosell A, Burton BK, Kim KH, Oundjian N, Kronn D, Chandy N, Baskin B, Guillen Sacoto MJ, Wentzensen IM, McLaughlin HM, McKnight D, Chung WK.
    Clin Genet; 2017 Aug 20; 92(2):221-223. PubMed ID: 28111752
    [Abstract] [Full Text] [Related]

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