spinal muscular atrophy

Summary

Summary: An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.

Top Publications

  1. Irimura S, Kitamura K, Kato N, Saiki K, Takeuchi A, Gunadi -, et al. HnRNP C1/C2 may regulate exon 7 splicing in the spinal muscular atrophy gene SMN1. Kobe J Med Sci. 2009;54:E227-36 pubmed
    b>Spinal muscular atrophy (SMA) is caused by loss of SMN1. A nearly identical gene, SMN2, fails to compensate for the loss of SMN1 because SMN2 produces mainly an exon 7-skipped product...
  2. Wang C, Finkel R, Bertini E, Schroth M, Simonds A, Wong B, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22:1027-49 pubmed
    b>Spinal muscular atrophy is a neurodegenerative disease that requires multidisciplinary medical care...
  3. Hahnen E, Eyupoglu I, Brichta L, Haastert K, Tränkle C, Siebzehnrubl F, et al. In vitro and ex vivo evaluation of second-generation histone deacetylase inhibitors for the treatment of spinal muscular atrophy. J Neurochem. 2006;98:193-202 pubmed
    ..hydroxamic acid (SAHA) evolved as a potent and non-toxic candidate drug for the treatment of spinal muscular atrophy (SMA), an alpha-motoneurone disorder caused by insufficient survival motor neuron (SMN) protein levels...
  4. Williams J, Schray R, Patterson C, Ayitey S, Tallent M, Lutz G. Oligonucleotide-mediated survival of motor neuron protein expression in CNS improves phenotype in a mouse model of spinal muscular atrophy. J Neurosci. 2009;29:7633-8 pubmed publisher
    b>Spinal muscular atrophy (SMA) is caused by homozygous mutation or deletion of the SMN1 gene encoding survival of motor neuron (SMN) protein, resulting in the selective loss of alpha-motor neurons...
  5. Swoboda K, Scott C, Reyna S, Prior T, LaSalle B, Sorenson S, et al. Phase II open label study of valproic acid in spinal muscular atrophy. PLoS ONE. 2009;4:e5268 pubmed publisher
    Preliminary in vitro and in vivo studies with valproic acid (VPA) in cell lines and patients with spinal muscular atrophy (SMA) demonstrate increased expression of SMN, supporting the possibility of therapeutic benefit...
  6. Heier C, DiDonato C. Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo. Hum Mol Genet. 2009;18:1310-22 pubmed publisher
    Proximal spinal muscular atrophy (SMA) is a neuromuscular disorder for which there is no available therapy. SMA is caused by loss or mutation of the survival motor neuron 1 gene, SMN1, with retention of a nearly identical copy gene, SMN2...
  7. Nguyen thi Man -, Humphrey E, Lam L, Fuller H, Lynch T, Sewry C, et al. A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy. Neurology. 2008;71:1757-63 pubmed publisher
    b>Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by loss of lower motor neurons during early or postnatal development...
  8. Stratigopoulos G, Lanzano P, Deng L, Guo J, Kaufmann P, Darras B, et al. Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females. Arch Neurol. 2010;67:1252-6 pubmed publisher
    ..the potential association of plastin 3 (PLS3) expression levels in the blood with disease severity in spinal muscular atrophy (SMA). Measurement of PLS3 messenger RNA levels in the blood of patients with types I, II, and III SMA...
  9. Riessland M, Ackermann B, Förster A, Jakubik M, Hauke J, Garbes L, et al. SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Hum Mol Genet. 2010;19:1492-506 pubmed publisher
    Proximal spinal muscular atrophy (SMA) is a common autosomal recessively inherited neuromuscular disorder determined by functional impairment of alpha-motor neurons within the spinal cord...

More Information

Publications62

  1. Zhang Z, Lotti F, Dittmar K, Younis I, Wan L, Kasim M, et al. SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing. Cell. 2008;133:585-600 pubmed publisher
    ..Though it is ubiquitously expressed, SMN deficiency causes the motor neuron degenerative disease spinal muscular atrophy (SMA)...
  2. Arkblad E, Darin N, Berg K, Kimber E, Brandberg G, Lindberg C, et al. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy. Neuromuscul Disord. 2006;16:830-8 pubmed
    b>Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by decreased levels of survival motor neuron protein (SMN). In the majority of cases, this decrease is due to absence of the SMN1 gene...
  3. Jablonka S, Karle K, Sandner B, Andreassi C, von Au K, Sendtner M. Distinct and overlapping alterations in motor and sensory neurons in a mouse model of spinal muscular atrophy. Hum Mol Genet. 2006;15:511-8 pubmed
    Motor neuron degeneration is the predominant pathological feature of spinal muscular atrophy (SMA). In patients with severe forms of the disease, additional sensory abnormalities have been reported...
  4. Butchbach M, Edwards J, Burghes A. Abnormal motor phenotype in the SMNDelta7 mouse model of spinal muscular atrophy. Neurobiol Dis. 2007;27:207-19 pubmed
    b>Spinal muscular atrophy (SMA) is a recessive motor neuron disease that affects motor neurons in the anterior horn of the spinal cord. SMA results from the reduction of SMN (survival motor neuron) protein...
  5. Liu H, Shafey D, Moores J, Kothary R. Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy. J Neurosci Res. 2010;88:111-22 pubmed publisher
    Deletions or mutations in survival of motor neuron 1 (SMN1) cause motor neuron loss and spinal muscular atrophy (SMA), a neuromuscular disorder, with the most severe type manifesting in utero...
  6. Callum P, Iger J, Ray M, Sims C, Falk R. Outcome and experience of implementing spinal muscular atrophy carrier screening on sperm donors. Fertil Steril. 2010;94:1912-4 pubmed publisher
    b>Spinal muscular atrophy (SMA) carrier screening was performed on 277 active semen donors and new semen donor applicants; five men tested positive as carriers for SMA...
  7. Rose F, Meehan P, Coady T, Garcia V, Garcia M, Lorson C. The Wallerian degeneration slow (Wld(s)) gene does not attenuate disease in a mouse model of spinal muscular atrophy. Biochem Biophys Res Commun. 2008;375:119-23 pubmed publisher
    b>Spinal muscular atrophy (SMA) is a severe neuromuscular disease characterized by loss of spinal alpha-motor neurons, resulting in the paralysis of skeletal muscle. SMA is caused by deficiency of survival motor neuron (SMN) protein levels...
  8. Krebs S, Medugorac I, Röther S, Strasser K, Forster M. A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy. Proc Natl Acad Sci U S A. 2007;104:6746-51 pubmed
    The bovine form of the autosomal recessive neurodegenerative disease spinal muscular atrophy (SMA) shows striking similarity to the human form of the disease...
  9. Wirth B, Brichta L, Schrank B, Lochmuller 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;119:422-8 pubmed
    b>Spinal muscular atrophy (SMA) is a recessive neuromuscular disorder caused by loss of the SMN1 gene. The clinical distinction between SMA type I to IV reflects different age of onset and disease severity...
  10. Millino C, Fanin M, Vettori A, Laveder P, Mostacciuolo M, Angelini C, et al. Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy. BMC Med. 2009;7:14 pubmed publisher
    b>Spinal muscular atrophy (SMA) is a neurodegenerative disorder associated with mutations of the survival motor neuron gene SMN and is characterized by muscle weakness and atrophy caused by degeneration of spinal motor neurons...
  11. Tsai L, Yang C, Hwu W, Li H. Valproic acid treatment in six patients with spinal muscular atrophy. Eur J Neurol. 2007;14:e8-9 pubmed
  12. Ebert A, Yu J, Rose F, Mattis V, Lorson C, Thomson J, et al. Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature. 2009;457:277-80 pubmed publisher
    b>Spinal muscular atrophy is one of the most common inherited forms of neurological disease leading to infant mortality. Patients have selective loss of lower motor neurons resulting in muscle weakness, paralysis and often death...
  13. Gavrilina T, McGovern V, Workman E, Crawford T, Gogliotti R, DiDonato C, et al. Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect. Hum Mol Genet. 2008;17:1063-75 pubmed publisher
    b>Spinal muscular atrophy (SMA) is caused by loss of the survival motor neuron gene (SMN1) and retention of the SMN2 gene. The copy number of SMN2 affects the amount of SMN protein produced and the severity of the SMA phenotype...
  14. Murray L, Lee S, Bäumer D, Parson S, Talbot K, Gillingwater T. Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy. Hum Mol Genet. 2010;19:420-33 pubmed publisher
    The childhood motor neuron disease spinal muscular atrophy (SMA) results from reduced expression of the survival motor neuron (SMN) gene...
  15. Bäumer D, Lee S, Nicholson G, Davies J, Parkinson N, Murray L, et al. Alternative splicing events are a late feature of pathology in a mouse model of spinal muscular atrophy. PLoS Genet. 2009;5:e1000773 pubmed publisher
    b>Spinal muscular atrophy is a severe motor neuron disease caused by inactivating mutations in the SMN1 gene leading to reduced levels of full-length functional SMN protein...
  16. Guenther U, Varon R, Schlicke M, Dutrannoy V, Volk A, Hübner C, et al. Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. Hum Mutat. 2007;28:808-15 pubmed
    Autosomal recessive spinal muscular atrophy with respiratory distress (SMARD) is a heterogeneous disorder...
  17. Butchbach M, Edwards J, Schussler K, Burghes A. A novel method for oral delivery of drug compounds to the neonatal SMNDelta7 mouse model of spinal muscular atrophy. J Neurosci Methods. 2007;161:285-90 pubmed
    b>Spinal muscular atrophy (SMA) is a devastating motor neuron disease that is one of the leading genetic causes of infant mortality. Currently, there is no cure for SMA...
  18. Michaud M, Arnoux T, Bielli S, Durand E, Rotrou Y, Jablonka S, et al. Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy. Neurobiol Dis. 2010;38:125-35 pubmed publisher
    b>Spinal muscular atrophy (SMA) is caused by insufficient levels of the survival motor neuron (SMN) protein leading to muscle paralysis and respiratory failure...
  19. Brichta L, Holker I, Haug K, Klockgether T, Wirth B. In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Ann Neurol. 2006;59:970-5 pubmed
    b>Spinal muscular atrophy results from loss of the survival motor neuron 1 (SMN1) gene and malfunction of the remaining SMN2. We investigated whether valproic acid can elevate human SMN expression in vivo...
  20. Tsai L, Tsai M, Ting C, Wang S, Li H. Restoring Bcl-x(L) levels benefits a mouse model of spinal muscular atrophy. Neurobiol Dis. 2008;31:361-7 pubmed publisher
    Currently, no curative treatment is available for spinal muscular atrophy (SMA). Since the degeneration of spinal motor neurons in SMA is mediated by apoptosis, over-expression of an anti-apoptotic factor, Bcl-x(L), may benefit SMA...
  21. Lee L, Davies S, Liu J. The spinal muscular atrophy protein SMN affects Drosophila germline nuclear organization through the U body-P body pathway. Dev Biol. 2009;332:142-55 pubmed publisher
    Survival motor neuron protein (SMN) is the determining factor for the human neurodegenerative disease spinal muscular atrophy (SMA). SMN is critical for small nuclear ribonucleoprotein (snRNP) assembly...
  22. Rajendra T, Gonsalvez G, Walker M, Shpargel K, Salz H, Matera A. A Drosophila melanogaster model of spinal muscular atrophy reveals a function for SMN in striated muscle. J Cell Biol. 2007;176:831-41 pubmed
    Mutations in human survival motor neurons 1 (SMN1) cause spinal muscular atrophy (SMA) and are associated with defects in assembly of small nuclear ribonucleoproteins (snRNPs) in vitro...
  23. Eggert C, Chari A, Laggerbauer B, Fischer U. Spinal muscular atrophy: the RNP connection. Trends Mol Med. 2006;12:113-21 pubmed
    Degenerated motor neurons in the spinal cord are the pathological hallmark of spinal muscular atrophy (SMA)...
  24. Briese M, Esmaeili B, Fraboulet S, Burt E, Christodoulou S, Towers P, et al. Deletion of smn-1, the Caenorhabditis elegans ortholog of the spinal muscular atrophy gene, results in locomotor dysfunction and reduced lifespan. Hum Mol Genet. 2009;18:97-104 pubmed publisher
    b>Spinal muscular atrophy is the most common genetic cause of infant mortality and is characterized by degeneration of lower motor neurons leading to muscle wasting. The causative gene has been identified as survival motor neuron (SMN)...
  25. Modi H, Suh S, Hong J, Cho J, Park J, Yang J. Treatment and complications in flaccid neuromuscular scoliosis (Duchenne muscular dystrophy and spinal muscular atrophy) with posterior-only pedicle screw instrumentation. Eur Spine J. 2010;19:384-93 pubmed publisher
    ..out in 27 consecutive patients with flaccid neuromuscular scoliosis (Duchenne muscular dystrophy and spinal muscular atrophy), who were operated between 2002 and 2006 using posterior-only pedicle screw instrumentation...
  26. Gogliotti R, Hammond S, Lutz C, DiDonato C. Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy. Biochem Biophys Res Commun. 2010;391:517-22 pubmed publisher
    Proximal spinal muscular atrophy (SMA) results from loss of the survival motor neuron 1 (SMN1) gene, with retention of its nearly identical homolog, SMN2. There is a direct correlation between disease severity and SMN2 copy number...
  27. Yu Z, Dadgar N, Albertelli M, Scheller A, Albin R, Robins D, et al. Abnormalities of germ cell maturation and sertoli cell cytoskeleton in androgen receptor 113 CAG knock-in mice reveal toxic effects of the mutant protein. Am J Pathol. 2006;168:195-204 pubmed
    ..Our data demonstrate that toxic effects of the mutant protein mediate aspects of the Kennedy disease phenotype previously attributed to a loss of AR function. ..
  28. Kaindl A, Guenther U, Rudnik Schoneborn S, Varon R, Zerres K, Schuelke M, et al. Spinal muscular atrophy with respiratory distress type 1 (SMARD1). J Child Neurol. 2008;23:199-204 pubmed publisher
    Autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1), recently referred to as distal spinal muscular atrophy 1 (DSMA1; MIM#604320) and also known as distal hereditary motor neuropathy type 6 (dHMN6 or ..
  29. van Bergeijk J, Haastert K, Grothe C, Claus P. Valproic acid promotes neurite outgrowth in PC12 cells independent from regulation of the survival of motoneuron protein. Chem Biol Drug Des. 2006;67:244-7 pubmed
    b>Spinal muscular atrophy (SMA) is a neurodegenerative disorder of motoneurons. The disease is caused by deletions or mutations of the survival of motoneuron gene 1 (SMN1)...
  30. Sproule D, Montes J, Dunaway S, Montgomery M, Battista V, Koenigsberger D, et al. Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy. Neuromuscul Disord. 2010;20:448-52 pubmed publisher
    The relationship between body composition and function in spinal muscular atrophy (SMA) is poorly understood...
  31. Tsai M, Chiu Y, Wang S, Hsieh Li H, Lian W, Li H. Abolishing Bax-dependent apoptosis shows beneficial effects on spinal muscular atrophy model mice. Mol Ther. 2006;13:1149-55 pubmed
    b>Spinal muscular atrophy (SMA) is the most common genetic motoneuron degenerative disorder, but the mechanism(s) of motoneuron degeneration is unclear...
  32. Chen W, Wu Z, Lin M, Su J, Lin Y, Murong S, et al. Molecular analysis and prenatal prediction of spinal muscular atrophy in Chinese patients by the combination of restriction fragment length polymorphism analysis, denaturing high-performance liquid chromatography, and linkage analysis. Arch Neurol. 2007;64:225-31 pubmed
    The difficulties and incurability of spinal muscular atrophy (SMA) highlight the importance of prenatal diagnosis in families with SMA. However, the system applied in prenatal screening is far from perfect...
  33. Sumner C, Wee C, Warsing L, Choe D, Ng A, Lutz C, et al. Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice. Hum Mol Genet. 2009;18:3145-52 pubmed publisher
    There is currently no treatment for the inherited motor neuron disease, spinal muscular atrophy (SMA). Severe SMA causes lower motor neuron loss, impaired myofiber development, profound muscle weakness and early mortality...
  34. Wang C, Chang J, Chen Y, Jong Y, Wu S. Multi-exon genotyping of SMN gene in spinal muscular atrophy by universal fluorescent PCR and capillary electrophoresis. Electrophoresis. 2010;31:2396-404 pubmed publisher
    ..in exons 7 and 8 but also to determine intragenic mutations in all nine exons for complete diagnosis of spinal muscular atrophy (SMA)...
  35. Burghes A, Beattie C. Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?. Nat Rev Neurosci. 2009;10:597-609 pubmed publisher
    Many neurogenetic disorders are caused by the mutation of ubiquitously expressed genes. One such disorder, spinal muscular atrophy, is caused by loss or mutation of the survival motor neuron1 gene (SMN1), leading to reduced SMN protein ..
  36. Gabanella F, Butchbach M, Saieva L, Carissimi C, Burghes A, Pellizzoni L. Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. PLoS ONE. 2007;2:e921 pubmed
    b>Spinal muscular atrophy (SMA) is a motor neuron disease caused by reduced levels of the survival motor neuron (SMN) protein...
  37. Elsheikh B, Prior T, Zhang X, Miller R, Kolb S, Moore D, et al. An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy. Muscle Nerve. 2009;40:652-6 pubmed publisher
    To evaluate the effect of SMN2 copy number on disease severity in spinal muscular atrophy (SMA), we stratified 45 adult SMA patients based on SMN2 copy number (3 vs. 4 copies)...
  38. Kariya S, Park G, Maeno Hikichi Y, Leykekhman O, Lutz C, Arkovitz M, et al. Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet. 2008;17:2552-69 pubmed publisher
    b>Spinal muscular atrophy (SMA) is a common pediatric neuromuscular disorder caused by insufficient levels of the survival of motor neuron (SMN) protein...
  39. Sumner C. Therapeutics development for spinal muscular atrophy. NeuroRx. 2006;3:235-45 pubmed
    b>Spinal muscular atrophy is an autosomal recessive motor neuron disease that is the leading inherited cause of infant and early childhood mortality...
  40. Mattis V, Bowerman M, Kothary R, Lorson C. A SMNDelta7 read-through product confers functionality to the SMNDelta7 protein. Neurosci Lett. 2008;442:54-8 pubmed publisher
    b>Spinal muscular atrophy (SMA) affects about 1 in every 6000 children born and is the leading genetic cause of infant death. SMA is a recessive disorder caused by the mutation or deletion of Survival Motor Neuron-1 (SMN1)...
  41. Baughan T, Shababi M, Coady T, Dickson A, Tullis G, Lorson C. Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector. Mol Ther. 2006;14:54-62 pubmed
    b>Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that is the leading genetic cause of infant mortality. SMA is caused by the loss of survival motor neuron-1 (SMN1)...
  42. Avila A, Burnett B, Taye A, Gabanella F, Knight M, Hartenstein P, et al. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest. 2007;117:659-71 pubmed
    The inherited motor neuron disease spinal muscular atrophy (SMA) is caused by mutation of the telomeric survival motor neuron 1 (SMN1) gene with retention of the centromeric SMN2 gene...
  43. Hauke J, Riessland M, Lunke S, Eyupoglu I, Blumcke I, El Osta A, et al. Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition. Hum Mol Genet. 2009;18:304-17 pubmed publisher
    b>Spinal muscular atrophy (SMA), a common neuromuscular disorder, is caused by homozygous absence of the survival motor neuron gene 1 (SMN1), while the disease severity is mainly influenced by the number of SMN2 gene copies...
  44. Dimatteo D, Callahan S, Kmiec E. Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy. Exp Cell Res. 2008;314:878-86 pubmed
    b>Spinal muscular atrophy (SMA), a recessive, neuromuscular disease, is caused by a mutation or deletion in the SMN1 gene...
  45. Butchbach M, Rose F, Rhoades S, Marston J, McCrone J, Sinnott R, et al. Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy. Biochem Biophys Res Commun. 2010;391:835-40 pubmed publisher
    Proximal spinal muscular atrophy (SMA) is a leading genetic cause of infant death. Patients with SMA lose alpha-motor neurons in the ventral horn of the spinal cord which leads to skeletal muscle weakness and atrophy...
  46. Murray L, Comley L, Thomson D, Parkinson N, Talbot K, Gillingwater T. Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Hum Mol Genet. 2008;17:949-62 pubmed
    Proximal spinal muscular atrophy (SMA) is a common autosomal recessive childhood form of motor neuron disease...
  47. Prior T, Krainer A, Hua Y, Swoboda K, Snyder P, Bridgeman S, et al. A positive modifier of spinal muscular atrophy in the SMN2 gene. Am J Hum Genet. 2009;85:408-13 pubmed publisher
    b>Spinal muscular atrophy (SMA) is a common autosomal-recessive motor neuron disease caused by the homozygous loss of the SMN1 gene. A nearly identical gene, SMN2, has been shown to decrease the severity of SMA in a dose-dependent manner...
  48. Khatri I, Chaudhry U, Seikaly M, Browne R, Iannaccone S. Low bone mineral density in spinal muscular atrophy. J Clin Neuromuscul Dis. 2008;10:11-7 pubmed publisher
    ..Z scores were used to compare their BMDs. BMD was lowest in patients with spinal muscular atrophy (SMA) with Z score of -2.25 +/- 0.31 standard deviation scores...
  49. Gómez Curet I, Robinson K, Funanage V, Crawford T, Scavina M, Wang W. Robust quantification of the SMN gene copy number by real-time TaqMan PCR. Neurogenetics. 2007;8:271-8 pubmed
    b>Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutation or deletion of the survival motor neuron gene 1 (SMN1)...
  50. Foust K, Wang X, McGovern V, Braun L, Bevan A, Haidet A, et al. Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol. 2010;28:271-4 pubmed publisher
    b>Spinal muscular atrophy (SMA), the most common autosomal recessive neurodegenerative disease affecting children, results in impaired motor neuron function...
  51. Riessland M, Brichta L, Hahnen E, Wirth B. The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells. Hum Genet. 2006;120:101-10 pubmed
    Proximal spinal muscular atrophy (SMA) is a common autosomal recessively inherited neuromuscular disorder causing infant death in half of all patients...
  52. Rose F, Mattis V, Rindt H, Lorson C. Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy. Hum Mol Genet. 2009;18:997-1005 pubmed publisher
    b>Spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality. SMA is caused by loss of functional survival motor neuron 1 (SMN1), resulting in death of spinal motor neurons...
  53. Murray L, Talbot K, Gillingwater T. Review: neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy. Neuropathol Appl Neurobiol. 2010;36:133-56 pubmed publisher
    ..targeted in different forms of motor neurone disease (MND), including amyotrophic lateral sclerosis and spinal muscular atrophy. We highlight important developments revealing the heterogeneous nature of vulnerability in populations ..