BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

222 related articles for article (PubMed ID: 31281085)

  • 1. Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families.
    Zulfiqar S; Tariq M; Ali Z; Fatima A; Klar J; Abdullah U; Ali A; Ramzan S; He S; Zhang J; Khan A; Shah S; Khan S; Makhdoom EH; Schuster J; Dahl N; Baig SM
    J Clin Neurosci; 2019 Sep; 67():19-23. PubMed ID: 31281085
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.
    Bibi F; Efthymiou S; Bourinaris T; Tariq A; Zafar F; Rana N; Salpietro V; Houlden H; Raja GK; ; Saeed S; Minhas NM
    J Neurol Sci; 2020 Apr; 411():116669. PubMed ID: 32006740
    [TBL] [Abstract][Full Text] [Related]  

  • 3. An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.
    Minase G; Miyatake S; Nabatame S; Arai H; Koshimizu E; Mizuguchi T; Nakashima M; Miyake N; Saitsu H; Miyamoto T; Sengoku K; Matsumoto N
    J Hum Genet; 2017 Nov; 62(11):997-1000. PubMed ID: 28725025
    [TBL] [Abstract][Full Text] [Related]  

  • 4. CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.
    Kariminejad A; Schöls L; Schüle R; Tonekaboni SH; Abolhassani A; Fadaee M; Rosti RO; Gleeson JG
    Eur J Paediatr Neurol; 2016 Sep; 20(5):782-7. PubMed ID: 27292318
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in
    Yu AC; Chan AY; Au WC; Shen Y; Chan TF; Chan HE
    Cold Spring Harb Mol Case Stud; 2016 Nov; 2(6):a001248. PubMed ID: 27900367
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family.
    Leonardi L; Ziccardi L; Marcotulli C; Rubegni A; Longobardi A; Serrao M; Storti E; Pierelli F; Tessa A; Parisi V; Santorelli FM; Carlo C
    J Neurol; 2016 Apr; 263(4):781-3. PubMed ID: 26914923
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H.
    Abbas S; Brugger B; Zubair M; Gul S; Blatterer J; Wenninger J; Rehman K; Tatrai B; Khan MA; Windpassinger C
    Neurol Res; 2021 Feb; 43(2):133-140. PubMed ID: 33246395
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification and analyses of exonic and copy number variants in spastic paraplegia.
    Shafique A; Nadeem A; Aslam F; Manzoor H; Noman M; Wohler E; Witmer PD; Sobreira N; Naz S
    Sci Rep; 2024 Jun; 14(1):14331. PubMed ID: 38906889
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic and phenotypic characterization of complex hereditary spastic paraplegia.
    Kara E; Tucci A; Manzoni C; Lynch DS; Elpidorou M; Bettencourt C; Chelban V; Manole A; Hamed SA; Haridy NA; Federoff M; Preza E; Hughes D; Pittman A; Jaunmuktane Z; Brandner S; Xiromerisiou G; Wiethoff S; Schottlaender L; Proukakis C; Morris H; Warner T; Bhatia KP; Korlipara LV; Singleton AB; Hardy J; Wood NW; Lewis PA; Houlden H
    Brain; 2016 Jul; 139(Pt 7):1904-18. PubMed ID: 27217339
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.
    Citterio A; Arnoldi A; Panzeri E; D'Angelo MG; Filosto M; Dilena R; Arrigoni F; Castelli M; Maghini C; Germiniasi C; Menni F; Martinuzzi A; Bresolin N; Bassi MT
    J Neurol; 2014 Feb; 261(2):373-81. PubMed ID: 24337409
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56.
    Legrand A; Pujol C; Durand CM; Mesnil A; Rubera I; Duranton C; Zuily S; Sousa AB; Renaud M; Boucher JL; Pietrancosta N; Adham S; Orssaud C; Marelli C; Casali C; Ziccardi L; Villain N; Ewenczyk C; Durr A; Mignot C; Stevanin G; Billon C; Hureaux M; Jeunemaitre X; Goizet C; Albuisson J
    J Intern Med; 2021 May; 289(5):709-725. PubMed ID: 33107650
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature.
    Khorrami M; Tabatabaiefar MA; Khorram E; Yaghini O; Rezaei M; Hejazifar A; Riahinezhad M; Kheirollahi M
    J Hum Genet; 2021 Oct; 66(10):973-981. PubMed ID: 33767317
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.
    Kumar KR; Wali GM; Kamate M; Wali G; Minoche AE; Puttick C; Pinese M; Gayevskiy V; Dinger ME; Roscioli T; Sue CM; Cowley MJ
    Neurogenetics; 2016 Oct; 17(4):265-270. PubMed ID: 27679996
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia.
    Zhao W; Zhu QY; Zhang JT; Liu H; Wang LJ; Chen ZQ; Guan LP; Huang XS; Yang L; Yu SY
    J Neurol Sci; 2013 Dec; 335(1-2):112-7. PubMed ID: 24090761
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families.
    Pashaei M; Davarzani A; Hajati R; Zamani B; Nafissi S; Larti F; Nilipour Y; Rohani M; Alavi A
    J Neurogenet; 2021; 35(2):84-94. PubMed ID: 33771085
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.
    Kilic MA; Yildiz EP; Deniz A; Coskun O; Kurekci F; Avci R; Genc HM; Yesil G; Akbas S; Yesilyurt A; Kara B
    Pediatr Neurol; 2024 Mar; 152():189-195. PubMed ID: 38301322
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China.
    Wang C; Zhang YJ; Xu CH; Li D; Liu ZJ; Wu Y
    Mol Genet Genomic Med; 2021 May; 9(5):e1627. PubMed ID: 33638609
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Analysis of CYP2U1 gene variants in a child with Hereditary spastic paraplegia type 56].
    Zhang G; Li S; Yang L; Wang M; Chen G; Zhu D
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 May; 40(5):577-581. PubMed ID: 37102293
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia.
    Cao Y; Zheng H; Zhu Z; Yao L; Tian W; Cao L
    Mov Disord; 2024 Apr; 39(4):651-662. PubMed ID: 38291924
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes.
    Li YS; Mao CY; Shi CH; Song B; Wu J; Qin J; Ji Y; Niu HX; Luo HY; Shang DD; Sun SL; Xu YM
    J Clin Neurosci; 2015 Jul; 22(7):1150-4. PubMed ID: 26003865
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.