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 *

135 related articles for article (PubMed ID: 14645990)

  • 1. Calpainopathy: how broad is the spectrum of clinical variability?
    Starling A; de Paula F; Silva H; Vainzof M; Zatz M
    J Mol Neurosci; 2003; 21(3):233-6. PubMed ID: 14645990
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Different entities of proximal spinal muscular atrophy within one family.
    Wirth B; Tessarolo D; Hahnen E; Rudnik-Schöneborn S; Raschke H; Liguori M; Giacanelli M; Zerres K
    Hum Genet; 1997 Oct; 100(5-6):676-80. PubMed ID: 9341891
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
    Sun Y; Grimmler M; Schwarzer V; Schoenen F; Fischer U; Wirth B
    Hum Mutat; 2005 Jan; 25(1):64-71. PubMed ID: 15580564
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene.
    Gambardella A; Mazzei R; Toscano A; Annesi G; Pasqua A; Annesi F; Quattrone F; Oliveri RL; Valentino P; Bono F; Aguglia U; Zappia M; Vita G; Quattrone A
    Ann Neurol; 1998 Nov; 44(5):836-9. PubMed ID: 9818944
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy.
    Cifuentes-Diaz C; Frugier T; Tiziano FD; Lacène E; Roblot N; Joshi V; Moreau MH; Melki J
    J Cell Biol; 2001 Mar; 152(5):1107-14. PubMed ID: 11238465
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study.
    Mercuri E; Messina S; Kinali M; Cini C; Longman C; Battini R; Cioni G; Muntoni F
    Neuromuscul Disord; 2004 Feb; 14(2):125-9. PubMed ID: 14733958
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
    Vissing J; Barresi R; Witting N; Van Ghelue M; Gammelgaard L; Bindoff LA; Straub V; Lochmüller H; Hudson J; Wahl CM; Arnardottir S; Dahlbom K; Jonsrud C; Duno M
    Brain; 2016 Aug; 139(Pt 8):2154-63. PubMed ID: 27259757
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Diagnostic difficulties in spinal muscular atrophy].
    Araújo AP; Ramos VG; Cabello PH
    Arq Neuropsiquiatr; 2005 Mar; 63(1):145-9. PubMed ID: 15830081
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
    Wirth B
    Hum Mutat; 2000; 15(3):228-37. PubMed ID: 10679938
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.
    Botta A; Tacconelli A; Bagni I; Giardina E; Bonifazi E; Pietropolli A; Clementi M; Novelli G
    Neurology; 2005 Nov; 65(10):1631-5. PubMed ID: 16301493
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.
    Monani UR; Pastore MT; Gavrilina TO; Jablonka S; Le TT; Andreassi C; DiCocco JM; Lorson C; Androphy EJ; Sendtner M; Podell M; Burghes AH
    J Cell Biol; 2003 Jan; 160(1):41-52. PubMed ID: 12515823
    [TBL] [Abstract][Full Text] [Related]  

  • 12. SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity.
    Simard LR; Rochette C; Semionov A; Morgan K; Vanasse M
    Am J Med Genet; 1997 Oct; 72(1):51-8. PubMed ID: 9295075
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A family with McLeod syndrome and calpainopathy with clinically overlapping diseases.
    Starling A; Schlesinger D; Kok F; Passos-Bueno MR; Vainzof M; Zatz M
    Neurology; 2005 Dec; 65(11):1832-3. PubMed ID: 16344536
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A clinical, magnetic resonance imaging, and survival motor neuron gene deletion study of Hirayama disease.
    Misra UK; Kalita J; Mishra VN; Kesari A; Mittal B
    Arch Neurol; 2005 Jan; 62(1):120-3. PubMed ID: 15642858
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype.
    Velasco E; Valero C; Valero A; Moreno F; Hernández-Chico C
    Hum Mol Genet; 1996 Feb; 5(2):257-63. PubMed ID: 8824882
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Detection of SMN gene deletions in spinal muscular atrophy].
    Yang T; Yuan L; Liu T; Zhou W; Wu H; Zhao S; Shun L; Huo L; Ma S; Lin Z
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 1998 Apr; 15(2):95-7. PubMed ID: 9531649
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A clinical and genetic study of spinal muscular atrophy.
    Mishra VN; Kalita J; Kesari A; Mitta B; Shankar SK; Misra UK
    Electromyogr Clin Neurophysiol; 2004; 44(5):307-12. PubMed ID: 15378871
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy.
    Wang CH; Xu J; Carter TA; Ross BM; Dominski MK; Bellcross CA; Penchaszadeh GK; Munsat TL; Gilliam TC
    Hum Mol Genet; 1996 Mar; 5(3):359-65. PubMed ID: 8852661
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Detection of homozygous and heterozygous SMN deletions of spinal muscular atrophy in a single assay with multiplex ligation-dependent probe amplification.
    Tomaszewicz K; Kang P; Wu BL
    Beijing Da Xue Xue Bao Yi Xue Ban; 2005 Feb; 37(1):55-7. PubMed ID: 15719043
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.
    Hahnen E; Forkert R; Marke C; Rudnik-Schöneborn S; Schönling J; Zerres K; Wirth B
    Hum Mol Genet; 1995 Oct; 4(10):1927-33. PubMed ID: 8595417
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.