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PUBMED FOR HANDHELDS

Journal Abstract Search

153 related items for PubMed ID: 37418012

  • 1.
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  • 2. 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
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  • 4. POLR3A-related spastic ataxia: new mutations and a look into the phenotype.
    Infante J, Serrano-Cárdenas KM, Corral-Juan M, Farré X, Sánchez I, de Lucas EM, García A, Martín-Gurpegui JL, Berciano J, Matilla-Dueñas A.
    J Neurol; 2020 Feb 01; 267(2):324-330. PubMed ID: 31637490
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  • 6. 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
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  • 7. 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 01; 21(6):1073-1084. PubMed ID: 34782953
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  • 8. 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 01; 22(1):71-79. PubMed ID: 33486633
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  • 9. 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
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  • 11. 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
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  • 12. 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 Oct 21; 52(14):1629-33. PubMed ID: 23857099
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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 21; 78(1):13-22. PubMed ID: 24252062
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  • 15. 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
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  • 16. 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 21; 201():106423. PubMed ID: 33348119
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  • 17. 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 21; 22(8):e3196. PubMed ID: 32246862
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  • 19. 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
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