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Journal Abstract Search

305 related items for PubMed ID: 23857099

  • 1. Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.
    Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F, Matsumoto N.
    Intern Med; 2013; 52(14):1629-33. PubMed ID: 23857099
    [Abstract] [Full Text] [Related]

  • 2. Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
    Thal DR, Züchner S, Gierer S, Schulte C, Schöls L, Schüle R, Synofzik M.
    Int J Mol Sci; 2015 Oct 21; 16(10):25050-66. PubMed ID: 26506339
    [Abstract] [Full Text] [Related]

  • 3. SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
    Choquet K, Tétreault M, Yang S, La Piana R, Dicaire MJ, Vanstone MR, Mathieu J, Bouchard JP, Rioux MF, Rouleau GA, Care4Rare Canada Consortium, Boycott KM, Majewski J, Brais B.
    Eur J Hum Genet; 2016 Jul 21; 24(7):1016-21. PubMed ID: 26626314
    [Abstract] [Full Text] [Related]

  • 4. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
    Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R.
    Brain; 2017 Jun 01; 140(6):1561-1578. PubMed ID: 28459997
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 96(3):271-273. PubMed ID: 31286494
    [No Abstract] [Full Text] [Related]

  • 6. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
    Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destée A, Mayer JM, Fontaine B, de Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A.
    Brain; 2012 Oct 01; 135(Pt 10):2980-93. PubMed ID: 23065789
    [Abstract] [Full Text] [Related]

  • 7. Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
    Zhang X, Zhang L, Wu Y, Li G, Chen S, Xia Y, Li H.
    BMC Neurol; 2018 Nov 29; 18(1):196. PubMed ID: 30497413
    [Abstract] [Full Text] [Related]

  • 8. A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports.
    Wang S, Wang Y, Wu Y, Zhang J, Zhang W, Li C, Song X.
    BMC Neurol; 2022 May 30; 22(1):200. PubMed ID: 35637455
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood.
    Sahin T, Karaarslan FT, Yilmaz R, Tekgül Ş, Başak AN, Akbostanci MC.
    Clin Neurol Neurosurg; 2021 Feb 24; 201():106423. PubMed ID: 33348119
    [No Abstract] [Full Text] [Related]

  • 11. A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations.
    Almatrafi A, Umair M, Eldardear A, Al-Luqmani M, Hashmi JA, Albalawi AM, Alfadhel M, Ramzan K, Basit S.
    J Gene Med; 2020 Aug 24; 22(8):e3196. PubMed ID: 32246862
    [Abstract] [Full Text] [Related]

  • 12. 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 24; 22(1):71-79. PubMed ID: 33486633
    [Abstract] [Full Text] [Related]

  • 13. 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 24; 83(6):1075-1088. PubMed ID: 29604224
    [Abstract] [Full Text] [Related]

  • 14. Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia.
    Wagner F, Titelbaum DS, Engisch R, Coskun EK, Waugh JL.
    Clin Neuroradiol; 2019 Jun 24; 29(2):215-221. PubMed ID: 29379980
    [Abstract] [Full Text] [Related]

  • 15. Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia.
    Seo Y, Lim HT, Lee BJ, Han J.
    Am J Med Genet A; 2023 Feb 24; 191(2):582-585. PubMed ID: 36367250
    [Abstract] [Full Text] [Related]

  • 16. Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation.
    Calandra CR, Buda G, Vishnopolska SA, Oliveri J, Olivieri FA, Pérez Millán MI, Biagioli G, Miquelini LA, Pellene AL, Marti MA.
    Parkinsonism Relat Disord; 2020 Apr 24; 73():52-54. PubMed ID: 32248051
    [No Abstract] [Full Text] [Related]

  • 17. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
    Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C.
    PLoS Genet; 2011 Oct 24; 7(10):e1002325. PubMed ID: 22022284
    [Abstract] [Full Text] [Related]

  • 18. A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
    Rydning SL, Wedding IM, Koht J, Chawla M, Øye AM, Sheng Y, Vigeland MD, Selmer KK, Tallaksen CM.
    Eur J Neurol; 2016 Apr 24; 23(4):763-71. PubMed ID: 26756429
    [Abstract] [Full Text] [Related]

  • 19. Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.
    Lorea CF, Tenório RB, Koenig M, Huebner A, Koehler K, Devos D, Guissart C, Saute JAM.
    Cerebellum; 2020 Jun 24; 19(3):465-468. PubMed ID: 32146693
    [No Abstract] [Full Text] [Related]

  • 20. A Diagnostic Approach to Spastic ataxia Syndromes.
    Pedroso JL, Vale TC, França Junior MC, Kauffman MA, Teive H, Barsottini OGP, Munhoz RP.
    Cerebellum; 2022 Dec 24; 21(6):1073-1084. PubMed ID: 34782953
    [Abstract] [Full Text] [Related]

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