BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

62 related articles for article (PubMed ID: 23664929)

  • 1. Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia.
    Zhan ZX; Liao XX; Du J; Luo YY; Hu ZT; Wang JL; Yan XX; Zhang JG; Dai MZ; Zhang P; Xia K; Tang BS; Shen L
    Eur J Med Genet; 2013 Jul; 56(7):375-8. PubMed ID: 23664929
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report.
    Liu J; Wang X; Huang D; Qi Y; Xu L; Shao Y
    Medicine (Baltimore); 2024 Apr; 103(16):e37874. PubMed ID: 38640304
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81.
    Sarma AS; Siddardha B; T PL; Ranganath P; Dalal A
    J Gene Med; 2023 Jul; 25(7):e3501. PubMed ID: 36942482
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
    Neilson DE; Zech M; Hufnagel RB; Slone J; Wang X; Homan S; Gutzwiller LM; Leslie EJ; Leslie ND; Xiao J; Hedera P; LeDoux MS; Gebelein B; Wilbert F; Eckenweiler M; Winkelmann J; Gilbert DL; Huang T
    Mov Disord; 2022 Feb; 37(2):375-383. PubMed ID: 34636445
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hereditary spastic paraplegia in Mali: epidemiological and clinical features.
    Diarra S; Coulibaly T; Dembélé K; Ngouth N; Cissé L; Diallo SH; Ouologuem M; Diallo S; Coulibaly O; Bagayoko K; Coulibaly D; Simaga A; Sango HA; Traoré M; Jacobson S; Fischbeck KH; Landouré G; Guinto CO;
    Acta Neurol Belg; 2023 Dec; 123(6):2155-2165. PubMed ID: 36396882
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family.
    Wang J; Zhao R; Cao H; Yin Z; Ma J; Xing Y; Zhang W; Chang X; Guo J
    Ann Clin Transl Neurol; 2023 Nov; 10(11):2139-2148. PubMed ID: 37752894
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
    Landouré G; Zhu PP; Lourenço CM; Johnson JO; Toro C; Bricceno KV; Rinaldi C; Meilleur KG; Sangaré M; Diallo O; Pierson TM; Ishiura H; Tsuji S; Hein N; Fink JK; Stoll M; Nicholson G; Gonzalez MA; Speziani F; Dürr A; Stevanin G; Biesecker LG; ; Accardi J; Landis DM; Gahl WA; Traynor BJ; Marques W; Züchner S; Blackstone C; Fischbeck KH; Burnett BG
    Hum Mutat; 2013 Oct; 34(10):1357-60. PubMed ID: 23857908
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Adrenomyeloneuropathy manifesting as adrenal insufficiency and bilateral lower extremity spastic paraplegia: A case report and literature review.
    Chen Y; Li D; Xu P; Zhang A; Chen X; Chen Y
    Medicine (Baltimore); 2024 Jan; 103(2):e36946. PubMed ID: 38215098
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18.
    de Souza GC; Malta MC; Santos MRS; Fontes MÍB; de Sousa Anjos JL; Ribeiro DP; Kok F; Figueiredo T
    Neurol Sci; 2024 Jun; 45(6):2705-2710. PubMed ID: 38159148
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.
    Brankovic M; Ivanovic V; Basta I; Khang R; Lee E; Stevic Z; Ralic B; Tubic R; Seo G; Markovic V; Bozovic I; Svetel M; Marjanovic A; Veselinovic N; Mesaros S; Jankovic M; Savic-Pavicevic D; Jovin Z; Novakovic I; Lee H; Peric S
    Neurogenetics; 2024 Mar; ():. PubMed ID: 38499745
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Application of whole exome sequencing in undiagnosed inherited polyneuropathies.
    Klein CJ; Middha S; Duan X; Wu Y; Litchy WJ; Gu W; Dyck PJ; Gavrilova RH; Smith DI; Kocher JP; Dyck PJ
    J Neurol Neurosurg Psychiatry; 2014 Nov; 85(11):1265-72. PubMed ID: 24604904
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
    Novarino G; Fenstermaker AG; Zaki MS; Hofree M; Silhavy JL; Heiberg AD; Abdellateef M; Rosti B; Scott E; Mansour L; Masri A; Kayserili H; Al-Aama JY; Abdel-Salam GMH; Karminejad A; Kara M; Kara B; Bozorgmehri B; Ben-Omran T; Mojahedi F; El Din Mahmoud IG; Bouslam N; Bouhouche A; Benomar A; Hanein S; Raymond L; Forlani S; Mascaro M; Selim L; Shehata N; Al-Allawi N; Bindu PS; Azam M; Gunel M; Caglayan A; Bilguvar K; Tolun A; Issa MY; Schroth J; Spencer EG; Rosti RO; Akizu N; Vaux KK; Johansen A; Koh AA; Megahed H; Durr A; Brice A; Stevanin G; Gabriel SB; Ideker T; Gleeson JG
    Science; 2014 Jan; 343(6170):506-511. PubMed ID: 24482476
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Description of Phenotypic Heterogeneity in a
    Ghasemi A; Tavasoli AR; Khojasteh M; Rohani M; Alavi A
    Mol Syndromol; 2023 Oct; 14(5):405-415. PubMed ID: 37915394
    [TBL] [Abstract][Full Text] [Related]  

  • 14. An under-recognised cause of spastic paraparesis in middle-aged women.
    Bargiela D; Eglon G; Horvath R; Chinnery PF
    Pract Neurol; 2014 Jun; 14(3):182-4. PubMed ID: 24154795
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hereditary Spastic Paraplegia due to
    Mahale RR; Arunachal G; Singh R; Padmanabha H; Mailankody P
    Ann Indian Acad Neurol; 2023; 26(5):826-827. PubMed ID: 38022477
    [No Abstract]   [Full Text] [Related]  

  • 16. Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.
    Park HJ; Shin HY; Kang HC; Choi BO; Suh BC; Kim HJ; Choi YC; Lee PH; Kim SM
    Yonsei Med J; 2014 May; 55(3):676-82. PubMed ID: 24719134
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy.
    Luo WJ; Wei Q; Dong HL; Yan YT; Chen MJ; Li HF
    Mol Genet Genomic Med; 2020 Jan; 8(1):e1065. PubMed ID: 31777199
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings.
    Koutsis G; Lynch DS; Tucci A; Houlden H; Karadima G; Panas M
    J Neurol Sci; 2015 Aug; 355(1-2):199-201. PubMed ID: 26049658
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical, genetic, and molecular characteristics in a central-southern Chinese cohort of genetic leukodystrophies.
    Li Y; Xu J; Xu Y; Li C; Wu Y; Liu Z
    Ann Clin Transl Neurol; 2023 Sep; 10(9):1556-1568. PubMed ID: 37434390
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Adult-Onset Genetic Leukoencephalopathies With Movement Disorders.
    Fu MH; Chang YY
    J Mov Disord; 2023 May; 16(2):115-132. PubMed ID: 36872858
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.