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 *

182 related articles for article (PubMed ID: 33168084)

  • 1. Spinal muscular atrophy type III complicated by spinal superficial siderosis: a case report with molecular and neuropathological findings.
    Pringle CE; Nelson R; Miller W; Kothary R; Michaud J
    Acta Neuropathol Commun; 2020 Nov; 8(1):188. PubMed ID: 33168084
    [TBL] [Abstract][Full Text] [Related]  

  • 2. ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophy.
    Kannan A; Jiang X; He L; Ahmad S; Gangwani L
    Brain; 2020 Jan; 143(1):69-93. PubMed ID: 31828288
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene.
    Zarkov M; Stojadinović A; Sekulić S; Barjaktarović I; Perić S; Keković G; Drasković B; Stević Z
    Vojnosanit Pregl; 2015 Oct; 72(10):859-63. PubMed ID: 26665550
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1.
    Rudnik-Schöneborn S; Barisić N; Eggermann K; Ortiz Brüchle N; Grđan P; Zerres K
    Neuromuscul Disord; 2016 Feb; 26(2):132-5. PubMed ID: 26794302
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion.
    García-Cabezas MA; García-Alix A; Martín Y; Gutiérrez M; Hernández C; Rodríguez JI; Morales C
    Acta Neuropathol; 2004 May; 107(5):475-8. PubMed ID: 14968368
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Spinal intradural pseudocyst formation in central nervous system superficial siderosis.
    Ito K; Yamada M; Uehara K; Takahashi Y; Kodaira M; Sekijima Y; Toyoshima Y; Kakita A; Makino K; Ohashi H; Hongo K; Horiuchi T
    Brain Pathol; 2024 Nov; 34(6):e13269. PubMed ID: 38724208
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.
    Grotto S; Cuisset JM; Marret S; Drunat S; Faure P; Audebert-Bellanger S; Desguerre I; Flurin V; Grebille AG; Guerrot AM; Journel H; Morin G; Plessis G; Renolleau S; Roume J; Simon-Bouy B; Touraine R; Willems M; Frébourg T; Verspyck E; Saugier-Veber P
    J Neuromuscul Dis; 2016 Nov; 3(4):487-495. PubMed ID: 27911332
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Spinal muscular atrophy type III: Molecular genetic characterization of Turkish patients.
    Bora-Tatar G; Yesbek-Kaymaz A; Bekircan-Kurt CE; Erdem-Özdamar S; Erdem-Yurter H
    Eur J Med Genet; 2015 Dec; 58(12):654-8. PubMed ID: 26548498
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A paucisymptomatic neuromuscular disease mimicking type III 5q-SMA with complex rearrangements in the SMN gene.
    Lohkamp LN; von Au K; Goebel HH; Kress W; Grieben U; Drossel K; Garbes L; Wirth B; Heppner FL; Stenzel W
    J Child Neurol; 2014 Feb; 29(2):254-9. PubMed ID: 24334346
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.
    Medrano S; Monges S; Gravina LP; Alías L; Mozzoni J; Aráoz HV; Bernal S; Moresco A; Chertkoff L; Tizzano E
    Eur J Paediatr Neurol; 2016 Nov; 20(6):910-917. PubMed ID: 27510309
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy.
    Diep Tran T; Kroepfl T; Saito M; Nagura M; Ichiseki H; Kubota M; Toda T; Sakakihara Y
    Brain Dev; 2001 Aug; 23(5):321-6. PubMed ID: 11504604
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III.
    Zheleznyakova GY; Kiselev AV; Vakharlovsky VG; Rask-Andersen M; Chavan R; Egorova AA; Schiöth HB; Baranov VS
    BMC Med Genet; 2011 Jul; 12():96. PubMed ID: 21762474
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Two Japanese Patients With SMA Type 1 Suggest that Axonal-SMN May Not Modify the Disease Severity.
    Yamada H; Nishida Y; Maihara T; Sa'adah N; Harahap NI; Nurputra DK; Ar Rochmah M; Nishimura N; Saito T; Kubo Y; Saito K; Nishio H
    Pediatr Neurol; 2015 Jun; 52(6):638-41. PubMed ID: 25838041
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clival meningocele causing bilateral hearing loss in a child due to superficial siderosis of the central nervous system: case report.
    Johans SJ; Swong KN; Burkett DJ; Wemhoff MP; Lew SM; Patel CR; Germanwala AV
    J Neurosurg Pediatr; 2018 May; 21(5):498-503. PubMed ID: 29451456
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Combined deficiency of Senataxin and DNA-PKcs causes DNA damage accumulation and neurodegeneration in spinal muscular atrophy.
    Kannan A; Bhatia K; Branzei D; Gangwani L
    Nucleic Acids Res; 2018 Sep; 46(16):8326-8346. PubMed ID: 30010942
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy.
    Rudnik-Schöneborn S; Goebel HH; Schlote W; Molaian S; Omran H; Ketelsen U; Korinthenberg R; Wenzel D; Lauffer H; Kreiss-Nachtsheim M; Wirth B; Zerres K
    Neurology; 2003 Mar; 60(6):983-7. PubMed ID: 12654964
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Spinal muscular atrophy due to double gene conversion event.
    Maamouri W; Hammer MB; Bouhlel Y; Souilem S; Khmiri N; Nehdi H; Hentati F; Amouri R
    Int J Neurosci; 2011 Feb; 121(2):107-11. PubMed ID: 21047176
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Digital necroses and vascular thrombosis in severe spinal muscular atrophy.
    Rudnik-Schöneborn S; Vogelgesang S; Armbrust S; Graul-Neumann L; Fusch C; Zerres K
    Muscle Nerve; 2010 Jul; 42(1):144-7. PubMed ID: 20583119
    [TBL] [Abstract][Full Text] [Related]  

  • 19. SMA Diagnosis: Detection of SMN1 Deletion with Real-Time mCOP-PCR System Using Fresh Blood DNA.
    Niba ETE; Ar Rochmah M; Harahap NIF; Awano H; Morioka I; Iijima K; Saito T; Saito K; Takeuchi A; Lai PS; Bouike Y; Nishio H; Shinohara M
    Kobe J Med Sci; 2017 Dec; 63(3):E80-E83. PubMed ID: 29434179
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Transmission characteristics of SMN from 227 spinal muscular atrophy core families in China.
    Cao Y; Qu Y; Bai J; Cheng M; Jin Y; Wang H; Song F
    J Hum Genet; 2020 May; 65(5):469-473. PubMed ID: 32051521
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.