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Journal Abstract Search

195 related items for PubMed ID: 29362493

  • 1. Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia.
    Lin P, Zhang D, Xu G, Yan C.
    J Hum Genet; 2018 Apr; 63(4):521-524. PubMed ID: 29362493
    [Abstract] [Full Text] [Related]

  • 2. 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; 135(Pt 10):2980-93. PubMed ID: 23065789
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  • 3. Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families.
    Azeem A, Ahmed AN, Khan N, Voutsina N, Ullah I, Ubeyratna N, Yasin M, Baple EL, Crosby AH, Rawlins LE, Saleha S.
    BMC Neurol; 2024 Sep 20; 24(1):354. PubMed ID: 39304850
    [Abstract] [Full Text] [Related]

  • 4. Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia.
    Coarelli G, Romano S, Travaglini L, Ferraldeschi M, Nicita F, Spadaro M, Fornasiero A, Frontali M, Salvetti M, Bertini E, Ristori G.
    Clin Neurol Neurosurg; 2018 May 20; 168():60-63. PubMed ID: 29524657
    [Abstract] [Full Text] [Related]

  • 5. Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.
    Brkanac Z, Fernandez M, Matsushita M, Lipe H, Wolff J, Bird TD, Raskind WH.
    Am J Med Genet; 2002 May 08; 114(4):450-7. PubMed ID: 11992570
    [Abstract] [Full Text] [Related]

  • 6. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.
    Brkanac Z, Spencer D, Shendure J, Robertson PD, Matsushita M, Vu T, Bird TD, Olson MV, Raskind WH.
    Am J Hum Genet; 2009 May 08; 84(5):692-7. PubMed ID: 19409521
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  • 9. 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 08; 78(1):13-22. PubMed ID: 24252062
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  • 11. Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.
    Nielsen JE, Johnsen B, Koefoed P, Scheuer KH, Grønbech-Jensen M, Law I, Krabbe K, Nørremølle A, Eiberg H, Søndergård H, Dam M, Rehfeld JF, Krarup C, Paulson OB, Hasholt L, Sørensen SA.
    Eur J Neurol; 2004 Dec 08; 11(12):817-24. PubMed ID: 15667412
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  • 12. 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 08; 7(10):1862-1869. PubMed ID: 32860341
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  • 13. 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 08; 23(4):763-71. PubMed ID: 26756429
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  • 15. A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia.
    Chai S, Liu D, Liu Y, Sang M.
    Hum Hered; 2023 Apr 08; 88(1):91-97. PubMed ID: 37899026
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  • 16. Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
    Iqbal Z, Rydning SL, Wedding IM, Koht J, Pihlstrøm L, Rengmark AH, Henriksen SP, Tallaksen CM, Toft M.
    PLoS One; 2017 Apr 08; 12(3):e0174667. PubMed ID: 28362824
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  • 17. 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 08; 22(1):71-79. PubMed ID: 33486633
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  • 18. Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.
    Accogli A, St-Onge J, Addour-Boudrahem N, Lafond-Lapalme J, Laporte AD, Rouleau GA, Rivière JB, Srour M.
    J Child Neurol; 2020 Feb 08; 35(2):106-110. PubMed ID: 31617442
    [Abstract] [Full Text] [Related]

  • 19. Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.
    Shimazaki H, Honda J, Naoi T, Namekawa M, Nakano I, Yazaki M, Nakamura K, Yoshida K, Ikeda S, Ishiura H, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Takiyama Y.
    J Neurol Neurosurg Psychiatry; 2014 Sep 08; 85(9):1024-8. PubMed ID: 24521565
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