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Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

  1. Mellins, Pediatrics, 53, 33 (1974)
  2. Rudnik-Schöneborn, Neuropediatrics, 27, 8 (1996)
  3. Gilmartin, Birth Defects Orig Artic Ser, XIII, 95 (1977)
  4. McWilliam, Arch Dis Child, 60, 145 (1985)
  5. Murphy, Arch Dis Child, 60, 495 (1985)
  6. Schapira, Muscle Nerve, 8, 661 (1985)
  7. Bove, Pediatr Pathol, 8, 95 (1988)
  8. Bertini E., Gadisseux J. L., Palmieri G., Ricci E., Capua M. Di, Ferriere G., Lyon G., Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: A variant of infantile spinal muscular atrophy, 10.1002/ajmg.1320330309
  9. Poets, Monatsschr Kinderheilkd, 138, 157 (1990)
  10. Sivan Yakov, Galvis Antonio, Early Diaphragmatic Paralysis : In Infants with Genetic Disorders, 10.1177/000992289002900305
  11. Novelli G, Capon F, Tamisari L, Grandi E, Angelini C, Guerrini P, Dallapiccola B, Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13., 10.1136/jmg.32.3.216
  12. Grohmann Katja, Wienker Thomas F., Saar Kathrin, Rudnik-Schöneborn Sabine, Stoltenburg-Didinger Gisela, Rossi Rainer, Novelli Giuseppe, Nürnberg Gudrun, Pfeufer Arne, Wirth Brunhilde, Reis André, Zerres Klaus, Hübner Christoph, Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21, 10.1086/302636
  13. Grohmann Katja, Schuelke Markus, Diers Alexander, Hoffmann Katrin, Lucke Barbara, Adams Coleen, Bertini Enrico, Leonhardt-Horti Hajnalka, Muntoni Francesco, Ouvrier Robert, Pfeufer Arne, Rossi Rainer, Van Maldergem Lionel, Wilmshurst Jo M., Wienker Thomas F., Sendtner Michael, Rudnik-Schöneborn Sabine, Zerres Klaus, Hübner Christoph, 10.1038/ng703
  14. Wilmshurst Jo M., Bye Ann, Rittey Chris, Adams Coleen, Hahn Angelika F., Ramsay David, Pamphlett Roger, Pollard John D., Ouvrier Robert, Severe infantile axonal neuropathy with respiratory failure, 10.1002/mus.1067
  15. Mohan U., Misra V.P., Britto J., Muntoni F., King R.H.M., Thomas P.K., Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement, 10.1016/s0960-8966(00)00210-8
  16. McEntagart Meriel, Norton Nadine, Williams Hywel, Teare M. Dawn, Dunstan Melanie, Baker Philip, Houlden Henry, Reilly Mary, Wood Nick, Harper Peter S., Futreal P. Andrew, Williams Nigel, Rahman Nazneen, Localization of the Gene for Distal Hereditary Motor Neuronopathy VII (dHMN-VII) to Chromosome 2q14, 10.1086/320122
  17. Fenichel, Clinical pediatric neurology. A signs and symptoms approach (2001)
  18. Korinthenberg R., Sauer M., Ketelsen U.-P., Hanemann C. O., Stoll G., Graf M., Baborie A., Volk B., Wirth B., Rudnik-Schöneborn S., Zerres K., Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region : Congenital SMA with Axonal Neuropathy, 10.1002/ana.410420314
  19. Omran Heymut, Ketelsen Uwe-Peter, Heinen Florian, Sauer Manfred, Rudnik-Schönebom Sabine, Wirth Brunhilde, Zerres Klaus, Kratzer Wilfried, Korinthenberg Rudolf, Axonal Neuropathy and Predominance of Type II Myofibers in Infantile Spinal Muscular Atrophy, 10.1177/088307389801300704
  20. Rossoll W., Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?, 10.1093/hmg/11.1.93
  21. McWhorter Michelle L., Monani Umrao R., Burghes Arthur H.M., Beattie Christine E., Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding, 10.1083/jcb.200303168
  22. Rudnik-Schöneborn, Neurology, 60, 983 (2003)
  23. Viollet, Am J Hum Genet, 71, 286 (2002)
Bibliographic reference Grohmann, K ; Varon, R ; Stolz, P ; Schuelke, M ; Janetzki, C ; et. al. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). In: Annals of Neurology, Vol. 54, no. 6, p. 719-724 (2003)
Permanent URL http://hdl.handle.net/2078.1/41474