[symple_heading style=”” title=”Litteratur: SMA” type=”h1″ font_size=”” text_align=”left” margin_top=”30″ margin_bottom=”30″ color=”undefined” icon_left=”” icon_right=””]

2014

  1. SMNis essential for the biogenesis of U7 small nuclear ribonucleoprotein and 3′-end formation of histone mRNAs. Tisdale S, Lotti F, Saieva L, Van Meerbeke JP, Crawford TO, Sumner CJ, Mentis GZ, Pellizzoni L. Cell Rep. 2013 Dec 12;5(5):1187-95. doi: 10.1016/j.celrep.2013.11.012.
  2. Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation. Kariya S, Obis T, Garone C, Akay T, Sera F, Iwata S, Homma S, Monani UR. J Clin Invest. 2014 Feb 3;124(2):785-800. doi: 10.1172/JCI72017. Epub 2014 Jan 27.
  3. The Smn independent beneficial effects of trichostatin A on an intermediate mouse model of spinal muscular atrophy. Liu H, Yazdani A, Murray LM, Beauvais A, Kothary R. PLoS One. 2014 Jul 1;9(7):e101225. doi: 10.1371/journal.pone.0101225. eCollection 2014.
  4. Autophagy dysregulation in cell culture and animals models of spinal muscular atrophy. Custer SK, Androphy EJ. Mol Cell Neurosci. 2014 Jul;61:133-40. doi: 10.1016/j.mcn.2014.06.006. Epub 2014 Jun 28.
  5. Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics. Bricceno KV, Martinez T, Leikina E, Duguez S, Partridge TA, Chernomordik LV, Fischbeck KH, Sumner CJ, Burnett BG. Hum Mol Genet. 2014 Sep 15;23(18):4745-57. doi: 10.1093/hmg/ddu189. Epub 2014 Apr 23.
  6. The effect of diet on the protective action of D156844 observed in spinal muscular atrophy mice. Butchbach ME, Singh J, Gurney ME, Burghes AH. Exp Neurol. 2014 Jun;256:1-6. doi: 10.1016/j.expneurol.2014.03.005. Epub 2014 Mar 25.
  7. Assays for the identification and prioritization of drug candidates for spinal muscular atrophy. Cherry JJ, Kobayashi DT, Lynes MM, Naryshkin NN, Tiziano FD, Zaworski PG, Rubin LL, Jarecki J. Assay Drug Dev Technol. 2014 Aug;12(6):315-41. doi: 10.1089/adt.2014.587.
  8. Molecular mechanisms and animal models of spinal muscular atrophy. Edens BM, Ajroud-Driss S, Ma L, Ma YC. Biochim Biophys Acta. 2014 Aug 1. pii: S0925-4439(14)00244-0. doi: 10.1016/j.bbadis.2014.07.024.
  9. SMN regulates axonal local translation via miR-183/mTOR pathway. Kye MJ, Niederst ED, Wertz MH, Gonçalves ID, Akten B, Dover KZ, Peters M, Riessland M, Neveu P, Wirth B, Kosik KS, Sardi SP, Monani UR, Passini MA, Sahin M. Hum Mol Genet. 2014 Jul 4. pii: ddu350.
  10. A short antisense oligonucleotide ameliorates symptoms of severe mouse models of spinal muscular atrophy. Keil JM, Seo J, Howell MD, Hsu WH, Singh RN, DiDonato CJ. Mol Ther Nucleic Acids 2014 Jul 8;3:e174. doi: 10.1038/mtna.2014.23.
  11. Electrophysiological Biomarkers in Spinal Muscular Atrophy: Preclinical Proof of Concept. Arnold WD, Porensky PN, McGovern VL, Iyer CC, Duque S, Li X, Meyer K, Schmelzer L, Kaspar BK, Kolb SJ, Kissel JT, Burghes AH. Ann Clin Transl Neurol. 2014 Jan 1;1(1):34-44.
  12. Dissection of the transversus abdominis muscle for whole-mount neuromuscular junction analysis. Murray L, Gillingwater TH, Kothary R. J Vis Exp. 2014 Jan 11;(83):e51162. doi: 10.3791/51162.
  13. Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA – a dose response study in mice and nonhuman primates. Meyer K, Ferraiuolo L, Schmelzer L, Braun L, McGovern V, Likhite S, Michels O, Govoni A, Fitzgerald J, Morales P, Foust KD, Mendell JR, Burghes AH, Kaspar BK. Mol Ther. 2014 Oct 31. doi: 10.1038/mt.2014.210.
  14. SnapShot-Seq: a method for extracting genome-wide, in vivo mRNA dynamics from a single total RNA sample. Gray JM, Harmin DA, Boswell SA, Cloonan N, Mullen TE, Ling JJ, Miller N, Kuersten S, Ma YC, McCarroll SA, Grimmond SM, Springer M. PLoS One. 2014 Feb 26;9(2):e89673. doi: 10.1371/journal.pone.0089673.
  15. Respiratory muscle function in infants with spinal muscular atrophy type I. Finkel RS, Weiner DJ, Mayer OH, McDonough JM, Panitch HB. Pediatr Pulmonol. 2014 Apr 29. doi: 10.1002/ppul.22997.
  16. Neurodegeneration in spinal muscular atrophy: from disease phenotype and animal models to therapeutic strategies and beyond. Monani UR, De Vivo DC. Future Neurol. 2014 Jan 1;9(1):49-65.

2009

Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ et al. A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet 2009; 85: 408-413.

2008

Deymeer F, Serdaroglu P, Parman Y, Poda M. Natural history of SMA IIIb: muscle strength decreases in a predictable sequence and magnitude. Neurology 2008; 71: 644-649.

Jedrzejowska M, Borkowska J, Zimowski J, Kostera-Pruszcyk A, Milewski M, Jurek M et al. Unaffected patients with a homozygous absence of the SMN1 gene. Eur J Hum Genet 2008; 16: 930-934.

Lunn MR, Wang CH. Spinal muscular atrophy. Lancet 2008; 371: 2120-2133.

Messina S, Pane M, De Rose P, Vasta I, Sorleti D, Aloysius A et al. Feeding problems and malnutrition in spinal muscular atrophy type II. Neuromusc Disord 2008; 18: 389-393.

2007

Bach JR, Salstein K, Sinquee D, Weaver B, Komaroff E. Long-term survival in Werdnig-Hoffmann disease. Am J Phys Med Rehabil 2007; 86: 339-345.

Oskoui M, Levy G, Garland CJ, Gracy JM, O’Hagen J, De Vivo DC et al. The changing natural history of spinal muscular atrophy type 1. Neurology 2007; 69: 1931-1936.

Tiziano FD, Bertini E, Messina S, Angelozzi C, Pane M, D’Amico A et al. The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study. Neuromuscul Disord 2007; 17: 400-403.

Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007; 22: 1027-1049.

Zapletalová E, Hedvicáková P, Kozák L, Vondrácek P, Gaillyova R, Maríková T et al. Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy. Neuromuscul Disord 2007; 17: 476-481.

2006

Wirth B, Brichta L, Schrank B, Lochmüller H, Blick S, Baasner A et al. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet 2006; 119: 422-428.

2005

Bush A, Fraser J, Jardine E, Paton J, Simonds A, Wallis C. Respiratory management of the infant with type 1 spinal muscular atrophy. Arch Dis Child 2005; 90: 709–711.

Swoboda KJ, Prior TW, Scott CB, McNaught TP, Wride MC, Reyna SP, Bromberg MB. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol 2005; 57: 704–712.

2004

Mellies U, Dohna-Schwake C, Stehling F, Voit T. Sleep disordered breathing in spinal muscular atrophy. Neuromuscul Disord 2004; 14: 797–803.

Miske LJ, Hickey EM, Kolb SM, Weiner DJ, Panitch HB. Use of the mechanical in-exsufflator in pediatric patients with neuromuscular disease and impaired cough. Chest 2004; 125: 1406–1412.

2002

Von Gontard A, Zerres K, Backes M, Laufersweiler-Plass C, Wendland C, Melchers P et al. Intelligence and cognitive function in children and adolescents with spinal muscular atrophy. Neuromuscul Disord 2002; 12: 130-136.

2000

Brahe C. Copies of the survival motor neuron gene in spinal muscular atrophy: the more, the better. Neuromuscul Disord 2000; 10: 274-275.

Jablonka S, Rosso W, Schrank B, Sendtner M. The role of SMN in spinal muscular atrophy. J Neurol 2000; 247; Suppl 1; I 37-42.

1999

MacLeod MJ, Taylor JE, Lunt PW, Mathew CG, Robb SA. Prenatal onset spinal muscular atrophy. Europ J Paediatr Neurol 1999; 3: 65–72.

1997

Fischer U, Liu Q, Dreyfuss G. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell 1997; 90: 1023–1029.

Lefebvre S, Burlet P, Liu Q, Bertrandy S, Clermont O, Munnio X et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 1997; 16: 265-269.

Liu Q, Fischer U, Wang F, Dreyfuss G. The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Cell 1997; 90: 1013–1021.

Zerres K, Rudnik-Schoneborn S, Forrest E, Lusakowska A, Borka X, Hausmanowa-Petrusewicz I. A collaborative study on the natural history of childhood and juvenile proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci 1997; 146: 67-72

1996

Cobben IM, Scheffer H, deVisser M, Van der Steege G, Verhey JB, Osinga J et al. Prenatal prediction of spinal muscular atrophy. Eur J Hum Genet 1996; 4: 231-236.

1995

Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995; 80: 155-165.

1993

Iannaccone ST, Browne RH, Samaha FJ, Buncher CR. Prospective study of spinal muscular atrophy before age 6 years. DCN/SMA Group. Pediatr Neurol 1993; 9: 187–193.

1992

Rudnik-Schoneborn S, Zerres K, Ignatius J, Rietschel M. Pregnancy and spinal muscular atrophy. J Neurol 1992; 239: 26-30.

1989

Rodillo E, Marini ML, Heckmatt JZ, Dubowitz V. Scoliosis in spinal muscular atrophy: review of 63 cases. J Child Neurol 1989; 4: 118–123.

1956

Kugelberg E, Welander L. Heredofamilial juvenile muscular atrophy simulating muscular dystrophy. AMA Arch Neurol Psychiatry 1956; 75: 500-509.