These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

205 related articles for article (PubMed ID: 24466038)

  • 61. A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.
    Verdura E; Schlüter A; Fernández-Eulate G; Ramos-Martín R; Zulaica M; Planas-Serra L; Ruiz M; Fourcade S; Casasnovas C; López de Munain A; Pujol A
    Ann Clin Transl Neurol; 2020 Jan; 7(1):105-111. PubMed ID: 31854126
    [TBL] [Abstract][Full Text] [Related]  

  • 62. ''Eye of tiger sign" mimic in patients with spastic paraplegia gene 7 (SPG7) mutations.
    Rizzo G; Tonon C; Gramegna LL; Bassi MT; Lodi R; Liguori R
    Parkinsonism Relat Disord; 2020 Dec; 81():158-160. PubMed ID: 33157434
    [No Abstract]   [Full Text] [Related]  

  • 63. Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.
    Yogev Y; Perez Y; Noyman I; Madegem AA; Flusser H; Shorer Z; Cohen E; Kachko L; Michaelovsky A; Birk R; Koifman A; Drabkin M; Wormser O; Halperin D; Kadir R; Birk OS
    Eur J Hum Genet; 2017 Aug; 25(8):966-972. PubMed ID: 28488683
    [TBL] [Abstract][Full Text] [Related]  

  • 64. Identification and characterization of YME1L1, a novel paraplegin-related gene.
    Coppola M; Pizzigoni A; Banfi S; Bassi MT; Casari G; Incerti B
    Genomics; 2000 May; 66(1):48-54. PubMed ID: 10843804
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia.
    Lin X; Su HZ; Dong EL; Lin XH; Zhao M; Yang C; Wang C; Wang J; Chen YJ; Yu H; Xu J; Ma LX; Xiong ZQ; Wang N; Chen WJ
    Brain; 2019 Aug; 142(8):2238-2252. PubMed ID: 31203368
    [TBL] [Abstract][Full Text] [Related]  

  • 66. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy.
    Bohlega S; Tanji K; Santorelli FM; Hirano M; al-Jishi A; DiMauro S
    Neurology; 1996 May; 46(5):1329-34. PubMed ID: 8628476
    [TBL] [Abstract][Full Text] [Related]  

  • 67. Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.
    Willkomm L; Heredia R; Hoffmann K; Wang H; Voit T; Hoffman EP; Cirak S
    J Hum Genet; 2016 Jun; 61(6):571-3. PubMed ID: 26888483
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein.
    Kremmidiotis G; Gardner AE; Settasatian C; Savoia A; Sutherland GR; Callen DF
    Genomics; 2001 Aug; 76(1-3):58-65. PubMed ID: 11549317
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Homozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families.
    Jiao B; Zhou Z; Hu Z; Du J; Liao X; Luo Y; Wang J; Yan X; Jiang H; Tang B; Shen L
    Parkinsonism Relat Disord; 2020 Nov; 80():65-72. PubMed ID: 32961396
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.
    Mancini C; Giorgio E; Rubegni A; Pradotto L; Bagnoli S; Rubino E; Prontera P; Cavalieri S; Di Gregorio E; Ferrero M; Pozzi E; Riberi E; Ferrero P; Nigro P; Mauro A; Zibetti M; Tessa A; Barghigiani M; Antenora A; Sirchia F; Piacentini S; Silvestri G; De Michele G; Filla A; Orsi L; Santorelli FM; Brusco A
    Eur J Neurol; 2019 Jan; 26(1):80-86. PubMed ID: 30098094
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Molecular basis of inherited spastic paraplegias.
    Casari G; Rugarli E
    Curr Opin Genet Dev; 2001 Jun; 11(3):336-42. PubMed ID: 11377972
    [TBL] [Abstract][Full Text] [Related]  

  • 72. Genomic structure and expression analysis of the spastic paraplegia gene, SPG7.
    Settasatian C; Whitmore SA; Crawford J; Bilton RL; Cleton-Jansen AM; Sutherland GR; Callen DF
    Hum Genet; 1999; 105(1-2):139-44. PubMed ID: 10480368
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia.
    Pirozzi M; Quattrini A; Andolfi G; Dina G; Malaguti MC; Auricchio A; Rugarli EI
    J Clin Invest; 2006 Jan; 116(1):202-8. PubMed ID: 16357941
    [TBL] [Abstract][Full Text] [Related]  

  • 74. Hereditary spastic paraplegia: respiratory choke or unactivated substrate?
    Claypool SM; Koehler CM
    Cell; 2005 Oct; 123(2):183-5. PubMed ID: 16239134
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia.
    Moslemi AR; Melberg A; Holme E; Oldfors A
    Ann Neurol; 1996 Nov; 40(5):707-13. PubMed ID: 8957011
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Early Onset Degenerative Parkinsonism - Consider SPG7 Mutation.
    Bhattacharjee S; Noushad M; Sadler M
    Neurol India; 2021; 69(4):1051-1052. PubMed ID: 34507444
    [TBL] [Abstract][Full Text] [Related]  

  • 77. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
    Montecchiani C; Pedace L; Lo Giudice T; Casella A; Mearini M; Gaudiello F; Pedroso JL; Terracciano C; Caltagirone C; Massa R; St George-Hyslop PH; Barsottini OG; Kawarai T; Orlacchio A
    Brain; 2016 Jan; 139(Pt 1):73-85. PubMed ID: 26556829
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.
    McDermott CJ; Dayaratne RK; Tomkins J; Lusher ME; Lindsey JC; Johnson MA; Casari G; Turnbull DM; Bushby K; Shaw PJ
    Neurology; 2001 Feb; 56(4):467-71. PubMed ID: 11222789
    [TBL] [Abstract][Full Text] [Related]  

  • 79. Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes.
    Brugman F; Veldink JH; Franssen H; de Visser M; de Jong JM; Faber CG; Kremer BH; Schelhaas HJ; van Doorn PA; Verschuuren JJ; Bruyn RP; Kuks JB; Robberecht W; Wokke JH; van den Berg LH
    Arch Neurol; 2009 Apr; 66(4):509-14. PubMed ID: 19364936
    [TBL] [Abstract][Full Text] [Related]  

  • 80. A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia.
    Yu W; Jin H; Deng J; Nan D; Huang Y
    BMC Med Genet; 2020 Jun; 21(1):123. PubMed ID: 32493220
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.