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Journal Abstract Search

451 related items for PubMed ID: 30572172

  • 1. CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.
    Shetty A, Gan-Or Z, Ashtiani S, Ruskey JA, van de Warrenburg B, Wassenberg T, Kamsteeg EJ, Rouleau GA, Suchowersky O.
    Eur J Med Genet; 2019 Dec; 62(12):103605. PubMed ID: 30572172
    [Abstract] [Full Text] [Related]

  • 2. Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.
    Lai LL, Chen YJ, Li YL, Lin XH, Wang MW, Dong EL, Wang N, Chen WJ, Lin X.
    Ann Clin Transl Neurol; 2020 Oct; 7(10):1862-1869. PubMed ID: 32860341
    [Abstract] [Full Text] [Related]

  • 3. 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; 22(1):71-79. PubMed ID: 33486633
    [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. Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review.
    Peng F, Sun YM, Quan C, Wang J, Wu JJ.
    Orphanet J Rare Dis; 2019 Apr 25; 14(1):83. PubMed ID: 31023339
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation.
    Rahimi Bidgoli MM, Javanparast L, Rohani M, Najmabadi H, Zamani B, Alavi A.
    Int J Neurosci; 2021 Oct 24; 131(10):962-974. PubMed ID: 32352326
    [Abstract] [Full Text] [Related]

  • 8. 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 24; 267(2):324-330. PubMed ID: 31637490
    [Abstract] [Full Text] [Related]

  • 9. 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 24; 24(7):1016-21. PubMed ID: 26626314
    [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. Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review.
    Zhu Z, Hou W, Cao Y, Zheng H, Tian W, Cao L.
    Neurogenetics; 2023 Oct 24; 24(4):243-250. PubMed ID: 37468791
    [Abstract] [Full Text] [Related]

  • 12. Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans.
    Wang Y, Hersheson J, Lopez D, Hammer M, Liu Y, Lee KH, Pinto V, Seinfeld J, Wiethoff S, Sun J, Amouri R, Hentati F, Baudry N, Tran J, Singleton AB, Coutelier M, Brice A, Stevanin G, Durr A, Bi X, Houlden H, Baudry M.
    Cell Rep; 2016 Jun 28; 16(1):79-91. PubMed ID: 27320912
    [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 28; 83(6):1075-1088. PubMed ID: 29604224
    [Abstract] [Full Text] [Related]

  • 14. CAPN1 mutations broadening the hereditary spastic paraplegia/spinocerebellar ataxia phenotype.
    Lambe J, Monaghan B, Munteanu T, Redmond J.
    Pract Neurol; 2018 Oct 28; 18(5):369-372. PubMed ID: 29678961
    [Abstract] [Full Text] [Related]

  • 15. 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 28; 22(8):e3196. PubMed ID: 32246862
    [Abstract] [Full Text] [Related]

  • 16. 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 28; 63(5):103868. PubMed ID: 32004679
    [Abstract] [Full Text] [Related]

  • 17. Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family.
    Dalal A, Bhowmik AD, Agarwal D, Phadke SR.
    Indian J Med Res; 2015 Aug 28; 142(2):220-4. PubMed ID: 26354221
    [No Abstract] [Full Text] [Related]

  • 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 28; 78(1):13-22. PubMed ID: 24252062
    [Abstract] [Full Text] [Related]

  • 19. 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 Jan 28; 52(14):1629-33. PubMed ID: 23857099
    [Abstract] [Full Text] [Related]

  • 20. Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
    Zech M, Brunet T, Škorvánek M, Blaschek A, Vill K, Hanker B, Hüning I, Haň V, Došekova P, Gdovinová Z, Alhaddad B, Berutti R, Strom TM, Růžička E, Kamsteeg EJ, van der Smagt JJ, Wagner M, Jech R, Winkelmann J.
    Parkinsonism Relat Disord; 2020 Aug 28; 77():70-75. PubMed ID: 32629324
    [Abstract] [Full Text] [Related]

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