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 *

354 related articles for article (PubMed ID: 9781046)

  • 1. Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24.
    van der Vleuten AJ; van Ravenswaaij-Arts CM; Frijns CJ; Smits AP; Hageman G; Padberg GW; Kremer H
    Eur J Hum Genet; 1998; 6(4):376-82. PubMed ID: 9781046
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Dominant congenital benign spinal muscular atrophy.
    Frijns CJ; Van Deutekom J; Frants RR; Jennekens FG
    Muscle Nerve; 1994 Feb; 17(2):192-7. PubMed ID: 8114789
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.
    Viollet L; Barois A; Rebeiz JG; Rifai Z; Burlet P; Zarhrate M; Vial E; Dessainte M; Estournet B; Kleinknecht B; Pearn J; Adams RD; Urtizberea JA; Cros DP; Bushby K; Munnich A; Lefebvre S
    Ann Neurol; 2002 May; 51(5):585-92. PubMed ID: 12112104
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Werdnig-Hoffmann disease and chronic distal spinal muscular atrophy with apparent autosomal dominant inheritance.
    Boylan KB; Cornblath DR
    Ann Neurol; 1992 Sep; 32(3):404-7. PubMed ID: 1416812
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
    Viollet L; Zarhrate M; Maystadt I; Estournet-Mathiaut B; Barois A; Desguerre I; Mayer M; Chabrol B; LeHeup B; Cusin V; Billette De Villemeur T; Bonneau D; Saugier-Veber P; Touzery-De Villepin A; Delaubier A; Kaplan J; Jeanpierre M; Feingold J; Munnich A
    Eur J Hum Genet; 2004 Jun; 12(6):483-8. PubMed ID: 15054395
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy.
    Gilliam TC; Brzustowicz LM; Castilla LH; Lehner T; Penchaszadeh GK; Daniels RJ; Byth BC; Knowles J; Hislop JE; Shapira Y
    Nature; 1990 Jun; 345(6278):823-5. PubMed ID: 1972783
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Autosomal dominant distal spinal muscular atrophy: an Italian family not linked to 12q24 and 7p14.
    De Angelis MV; Gatta V; Stuppia L; Passamonti L; Gambi D; Uncini A
    Neuromuscul Disord; 2002 Jan; 12(1):26-30. PubMed ID: 11731281
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31.
    Isozumi K; DeLong R; Kaplan J; Deng HX; Iqbal Z; Hung WY; Wilhelmsen KC; Hentati A; Pericak-Vance MA; Siddique T
    Hum Mol Genet; 1996 Sep; 5(9):1377-82. PubMed ID: 8872481
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q.
    Melki J; Abdelhak S; Sheth P; Bachelot MF; Burlet P; Marcadet A; Aicardi J; Barois A; Carriere JP; Fardeau M
    Nature; 1990 Apr; 344(6268):767-8. PubMed ID: 1970420
    [TBL] [Abstract][Full Text] [Related]  

  • 10. X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21.
    Kennerson M; Nicholson G; Kowalski B; Krajewski K; El-Khechen D; Feely S; Chu S; Shy M; Garbern J
    Neurology; 2009 Jan; 72(3):246-52. PubMed ID: 19153371
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Autosomal dominant congenital spinal muscular atrophy--a possible developmental deficiency of motor neurones?
    Reddel S; Ouvrier RA; Nicholson G; Dierick I; Irobi J; Timmerman V; Ryan MM
    Neuromuscul Disord; 2008 Jul; 18(7):530-5. PubMed ID: 18579380
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Refinement of the spinal muscular atrophy locus to the interval between D5S435 and MAP1B.
    Soares VM; Brzustowicz LM; Kleyn PW; Knowles JA; Palmer DA; Asokan S; Penchaszadeh GK; Munsat TL; Gilliam TC
    Genomics; 1993 Feb; 15(2):365-71. PubMed ID: 8449502
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.
    Oates EC; Reddel S; Rodriguez ML; Gandolfo LC; Bahlo M; Hawke SH; Lamandé SR; Clarke NF; North KN
    Brain; 2012 Jun; 135(Pt 6):1714-23. PubMed ID: 22628388
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.
    Christodoulou K; Kyriakides T; Hristova AH; Georgiou DM; Kalaydjieva L; Yshpekova B; Ivanova T; Weber JL; Middleton LT
    Hum Mol Genet; 1995 Sep; 4(9):1629-32. PubMed ID: 8541851
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy.
    Wilhelmsen KC; Blake DM; Lynch T; Mabutas J; De Vera M; Neystat M; Bernstein M; Hirano M; Gilliam TC; Murphy PL; Sola MD; Bonilla E; Schotland DL; Hays AP; Rowland LP
    Ann Neurol; 1996 Apr; 39(4):507-20. PubMed ID: 8619529
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Spinal muscular atrophy with respiratory distress type 1 (SMARD1).
    Kaindl AM; Guenther UP; Rudnik-Schöneborn S; Varon R; Zerres K; Schuelke M; Hübner C; von Au K
    J Child Neurol; 2008 Feb; 23(2):199-204. PubMed ID: 18263757
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.
    Starling A; Kok F; Passos-Bueno MR; Vainzof M; Zatz M
    Eur J Hum Genet; 2004 Dec; 12(12):1033-40. PubMed ID: 15367920
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Genetic analysis of childhood-onset spinal muscular atrophy.
    Brzustowicz LM; Wilhelmsen KC; Gilliam TC
    Adv Neurol; 1991; 56():181-7. PubMed ID: 1853756
    [No Abstract]   [Full Text] [Related]  

  • 20. Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome.
    Winkelmann J; Lichtner P; Pütz B; Trenkwalder C; Hauk S; Meitinger T; Strom T; Muller-Myhsok B
    Mov Disord; 2006 Jan; 21(1):28-33. PubMed ID: 16124010
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.