These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

986 related items for PubMed ID: 32203252

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
    Sferra A, Fattori F, Rizza T, Flex E, Bellacchio E, Bruselles A, Petrini S, Cecchetti S, Teson M, Restaldi F, Ciolfi A, Santorelli FM, Zanni G, Barresi S, Castiglioni C, Tartaglia M, Bertini E.
    Hum Mol Genet; 2018 Jun 01; 27(11):1892-1904. PubMed ID: 29547997
    [Abstract] [Full Text] [Related]

  • 3. Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8.
    Hosseini Bereshneh A, Hosseipour S, Rasoulinezhad MS, Pak N, Garshasbi M, Tavasoli AR.
    Eur J Med Genet; 2020 May 01; 63(5):103868. PubMed ID: 32004679
    [Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5. Defining the phenotypical spectrum associated with variants in TUBB2A.
    Brock S, Vanderhasselt T, Vermaning S, Keymolen K, Régal L, Romaniello R, Wieczorek D, Storm TM, Schaeferhoff K, Hehr U, Kuechler A, Krägeloh-Mann I, Haack TB, Kasteleijn E, Schot R, Mancini GMS, Webster R, Mohammad S, Leventer RJ, Mirzaa G, Dobyns WB, Bahi-Buisson N, Meuwissen M, Jansen AC, Stouffs K.
    J Med Genet; 2021 Jan 01; 58(1):33-40. PubMed ID: 32571897
    [Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7. Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
    Doi H, Ushiyama M, Baba T, Tani K, Shiina M, Ogata K, Miyatake S, Fukuda-Yuzawa Y, Tsuji S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ikeda S, Tanaka F, Matsumoto N, Yoshida K.
    Sci Rep; 2014 Nov 24; 4():7132. PubMed ID: 25417924
    [Abstract] [Full Text] [Related]

  • 8. Brain white matter abnormalities associated with copy number variants.
    Vigdorovich N, Ben-Sira L, Blumkin L, Precel R, Nezer I, Yosovich K, Cross Z, Vanderver A, Lev D, Lerman-Sagie T, Zerem A.
    Am J Med Genet A; 2020 Jan 24; 182(1):93-103. PubMed ID: 31622028
    [Abstract] [Full Text] [Related]

  • 9. Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
    Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H.
    Epilepsia; 2014 Jul 24; 55(7):994-1000. PubMed ID: 24888894
    [Abstract] [Full Text] [Related]

  • 10. [Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy].
    Wang T, Cheng MM, Liu WW, Tan QZ, Liu CH, Yang Y, Yang XL, Zhang YH.
    Zhonghua Er Ke Za Zhi; 2024 Aug 02; 62(8):752-757. PubMed ID: 39039877
    [Abstract] [Full Text] [Related]

  • 11. MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
    Trivisano M, De Dominicis A, Micalizzi A, Ferretti A, Dentici ML, Terracciano A, Calabrese C, Vigevano F, Novelli G, Novelli A, Specchio N.
    Seizure; 2022 Oct 02; 101():211-217. PubMed ID: 36087421
    [Abstract] [Full Text] [Related]

  • 12. Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
    Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N.
    Eur J Hum Genet; 2016 Jan 02; 24(1):129-34. PubMed ID: 25966631
    [Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14. [Phenotype study of SCN2A gene related epilepsy].
    Zeng Q, Zhang YH, Yang XL, Zhang J, Liu AJ, Liu XY, Jiang YW, Wu XR.
    Zhonghua Er Ke Za Zhi; 2018 Jul 02; 56(7):518-523. PubMed ID: 29996185
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. [Clinical phenotypes of epilepsy associated with GABRA1 gene variants].
    Yang Y, Zhang YH, Chen JY, Ma JH, Sun D, Yang XL, Zhang J, Chen Y, Wu XR.
    Zhonghua Er Ke Za Zhi; 2020 Feb 02; 58(2):118-122. PubMed ID: 32102148
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. [Clinical features of epilepsy in children with IRF2BPL gene variation].
    Niu Q, Yang Y, Niu XY, Chen Y, Liu WW, Zhang YH.
    Zhonghua Er Ke Za Zhi; 2021 Jun 02; 59(6):506-510. PubMed ID: 34102826
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20. Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum.
    Nakamura Y, Togawa Y, Okuno Y, Muramatsu H, Nakabayashi K, Kuroki Y, Ieda D, Hori I, Negishi Y, Togawa T, Hattori A, Kojima S, Saitoh S.
    Brain Dev; 2018 Feb 02; 40(2):134-139. PubMed ID: 28893434
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 50.