{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T08:13:37Z","timestamp":1791101617095,"version":"4.1.0"},"publisher-location":"Chichester, UK","reference-count":157,"publisher":"John Wiley & Sons, Ltd","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"DOI":"10.1002\/14651858.cd006282.pub2","type":"reference-entry","created":{"date-parts":[[2009,2,3]],"date-time":"2009-02-03T12:14:50Z","timestamp":1233663290000},"source":"Crossref","is-referenced-by-count":8,"title":["Drug treatment for spinal muscular atrophy types II and III"],"prefix":"10.1002","author":[{"given":"Wendy MJ","family":"Bosboom","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander FJE","family":"Vrancken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonard H","family":"van den Berg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John HJ","family":"Wokke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan T","family":"Iannaccone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,1,21]]},"reference":[{"issue":"1","key":"10.1002\/14651858.CD006282.pub2-BIB1|cit1","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1212\/01.wnl.0000249142.82285.d6","article-title":"Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy","volume":"68","author":"Mercuri","year":"2007","journal-title":"Neurology"},{"issue":"1-2","key":"10.1002\/14651858.CD006282.pub2-BIB2|cit2","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/S0022-510X(01)00632-3","article-title":"A placebo-controlled trial of gabapentin in spinal muscular atrophy","volume":"191","author":"Miller","year":"2001","journal-title":"Journal of the Neurological Sciences"},{"issue":"5","key":"10.1002\/14651858.CD006282.pub2-BIB3|cit3","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1097\/00002060-200009000-00005","article-title":"A study of thyrotropin-releasing hormone for the treatment of spinal muscular atrophy: a preliminary report","volume":"79","author":"Tzeng","year":"2000","journal-title":"American Journal of Physical Medicine & Rehabilitation"},{"issue":"3","key":"10.1002\/14651858.CD006282.pub2-BIB4|cit4","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1097\/CND.0b013e3180315c99","article-title":"A randomized, placebo-controlled trial of creatine in children with spinal muscular atrophy","volume":"8","author":"Wong","year":"2007","journal-title":"Journal of Clinical Neuromuscular Disease"},{"issue":"6","key":"10.1002\/14651858.CD006282.pub2-BIB5|cit5","first-page":"460","article-title":"Guanidine hydrochloride in infantile and juvenile spinal muscular atrophy. A double blind controlled study","volume":"2","author":"Angelini","year":"1980","journal-title":"Acta Neurologica (Napoli)"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB6|cit6","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1038\/sj.ejhg.5201320","article-title":"Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients","volume":"13","author":"Brahe","year":"2005","journal-title":"European Journal of Human Genetics"},{"issue":"6","key":"10.1002\/14651858.CD006282.pub2-BIB7|cit7","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1002\/ana.20836","article-title":"In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate","volume":"59","author":"Brichta","year":"2006","journal-title":"Annals of Neurology"},{"key":"10.1002\/14651858.CD006282.pub2-BIB8|cit8","unstructured":"Chang JG Tsai FJ Wang WY Jong YJ Treatment of spinal muscular atrophy by hydroxyurea American Journal of Human Genetics 2002 2402 suppl"},{"issue":"1","key":"10.1002\/14651858.CD006282.pub2-BIB9|cit9","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/0925-4439(95)00040-B","article-title":"Two successful double-blind trials with coenzyme Q10 (vitamin Q10) on muscular dystrophies and neurogenic atrophies","volume":"1271","author":"Folkers","year":"1995","journal-title":"Biochimica et Biophysica Acta"},{"issue":"11","key":"10.1002\/14651858.CD006282.pub2-BIB10|cit10","first-page":"1657","article-title":"[Use of lithium carbonate to treat Kugelberg--Welander spinal amyotrophy]","volume":"80","author":"Il'ina","year":"1980","journal-title":"Zhurnal Nevropatologii i Psikhiatriii imeni S S Korsakova"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB11|cit11","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1212\/WNL.59.4.609","article-title":"Pilot trial of albuterol in spinal muscular atrophy","volume":"59","author":"Kinali","year":"2002","journal-title":"Neurology"},{"issue":"1-2","key":"10.1002\/14651858.CD006282.pub2-BIB12|cit12","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.jns.2007.11.012","article-title":"The effect of hydroxyurea in spinal muscular atrophy cells and patients","volume":"268","author":"Liang","year":"2008","journal-title":"Journal of the Neurological Sciences"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB13|cit13","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.nmd.2003.11.006","article-title":"Pilot trial of phenylbutyrate in spinal muscular atrophy","volume":"14","author":"Mercuri","year":"2004","journal-title":"Neuromuscular Disorders"},{"issue":"8","key":"10.1002\/14651858.CD006282.pub2-BIB14|cit14","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1177\/08830738030180080501","article-title":"Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study","volume":"18","author":"Merlini","year":"2003","journal-title":"Journal of Child Neurology"},{"issue":"7","key":"10.1002\/14651858.CD006282.pub2-BIB15|cit15","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1016\/j.nmd.2008.05.004","article-title":"Daily salbutamol in young patients with SMA type II","volume":"18","author":"Pane","year":"2008","journal-title":"Neuromuscular Disorders"},{"issue":"12","key":"10.1002\/14651858.CD006282.pub2-BIB16|cit16","doi-asserted-by":"crossref","first-page":"e8","DOI":"10.1111\/j.1468-1331.2007.01992.x","article-title":"Valproic acid treatment in six patients with spinal muscular atrophy","volume":"14","author":"Tsai","year":"2007","journal-title":"European Journal of Neurology"},{"issue":"3","key":"10.1002\/14651858.CD006282.pub2-BIB17|cit17","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1212\/01.wnl.0000231139.26253.d0","article-title":"Valproate may improve strength and function in patients with type III\/IV spinal muscle atrophy","volume":"67","author":"Weihl","year":"2006","journal-title":"Neurology"},{"key":"10.1002\/14651858.CD006282.pub2-BIB18|cit18","series-title":"Neuromuscular Disorders","first-page":"780-781 abstrac","article-title":"European Spinal Muscular Atrophy RCT of acetyl-L-carnitine in SMA","author":"Merlini","year":"2007"},{"key":"10.1002\/14651858.CD006282.pub2-BIB19|cit19","unstructured":"NCT00227266 Valproic Acid and Carnitine in Patients with Spinal Muscular Atrophy clinicaltrials.gov\/show\/NCT00227266"},{"key":"10.1002\/14651858.CD006282.pub2-BIB20|cit20","unstructured":"NCT00774423 Study to Evaluate the Efficacy of Riluzole in Children and Young Adults with Spinal Muscular Atrophy (SMA) (ASIRI) clinicaltrials.gov\/show\/NCT00774423"},{"key":"10.1002\/14651858.CD006282.pub2-BIB21|cit21","unstructured":"NCT00485511 A Trial of Hydroxyurea in Spinal Muscular Atrophy clinicaltrials\/gov\/show\/NCT00485511"},{"key":"10.1002\/14651858.CD006282.pub2-BIB22|cit22","unstructured":"NCT00481013 Valproic Acid in Ambulant Adults With Spinal Muscular Atrophy (VALIANT SMA) clinicaltrials.gov\/show\/NCT00481013"},{"key":"10.1002\/14651858.CD006282.pub2-BIB23|cit23","unstructured":"NCT00533221 Pilot Study of Growth Hormone to Treat SMA Type II and III clinicaltrials.gov\/show\/NCT00533221"},{"key":"10.1002\/14651858.CD006282.pub2-BIB24|cit24","unstructured":"NCT00568802 A Pilot Therapeutic Trial Using Hydroxyurea in Type II and Type III Spinal Muscular Atrophy Patients clinicaltrials.gov\/show\/NCT00568802"},{"issue":"5","key":"10.1002\/14651858.CD006282.pub2-BIB25|cit25","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1212\/WNL.46.5.1244","article-title":"A double-blind placebo-controlled clinical trial of subcutaneous recombinant human ciliary neurotrophic factor (rHCNTF) in amyotrophic lateral sclerosis. ALS CNTF Treatment Study Group","volume":"46","year":"1996","journal-title":"Neurology"},{"issue":"1","key":"10.1002\/14651858.CD006282.pub2-BIB26|cit26","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/sj.ejhg.5201102","article-title":"Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy","volume":"12","author":"Andreassi","year":"2004","journal-title":"European Journal of Human Genetics"},{"issue":"1","key":"10.1002\/14651858.CD006282.pub2-BIB27|cit27","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1136\/jmg.2007.051177","article-title":"Salbutamol increases SMN mRNA and protein levels in spinal muscular atrophy cells","volume":"45","author":"Angelozzi","year":"2008","journal-title":"Journal of Medical Genetics"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB28|cit28","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1515\/CCLM.2001.055","article-title":"Neurotrophic factor therapy--prospects and problems","volume":"39","author":"Apfel","year":"2001","journal-title":"Clinical Chemistry and Laboratory Medicine"},{"issue":"7","key":"10.1002\/14651858.CD006282.pub2-BIB29|cit29","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1212\/WNL.52.7.1427","article-title":"A controlled trial of recombinant methionyl human BDNF in ALS: The BDNF Study Group (Phase III)","volume":"52","year":"1999","journal-title":"Neurology"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB30|cit30","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1080\/14660820510028412","article-title":"Autonomic dysfunction in ALS: a preliminary study on the effects of intrathecal BDNF","volume":"6","author":"Beck","year":"2005","journal-title":"Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders"},{"issue":"9","key":"10.1002\/14651858.CD006282.pub2-BIB31|cit31","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1056\/NEJM199403033300901","article-title":"A controlled trial of riluzole in amyotrophic lateral sclerosis. ALS\/Riluzole Study Group","volume":"330","author":"Bensimon","year":"1994","journal-title":"New England Journal of Medicine"},{"issue":"12","key":"10.1002\/14651858.CD006282.pub2-BIB32|cit32","doi-asserted-by":"crossref","first-page":"2291","DOI":"10.1046\/j.1460-9568.2002.02299.x","article-title":"Mitochondrial oxidative metabolism in motor neuron degeneration (mnd) mouse central nervous system","volume":"16","author":"Bertamini","year":"2002","journal-title":"The European Journal of Neuroscience"},{"issue":"11","key":"10.1002\/14651858.CD006282.pub2-BIB33|cit33","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1016\/j.nmd.2005.07.005","article-title":"134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands","volume":"15","author":"Bertini","year":"2005","journal-title":"Neuromuscular Disorders"},{"issue":"4481","key":"10.1002\/14651858.CD006282.pub2-BIB34|cit34","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1126\/science.6450446","article-title":"Transport of energy in muscle: the phosphorylcreatine shuttle","volume":"211","author":"Bessman","year":"1981","journal-title":"Science"},{"issue":"3","key":"10.1002\/14651858.CD006282.pub2-BIB35|cit35","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1016\/S0304-3940(02)00667-5","article-title":"Acetyl-L-carnitine shows neuroprotective and neurotrophic activity in primary culture of rat embryo motoneurons","volume":"329","author":"Bigini","year":"2002","journal-title":"Neuroscience Letters"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB36|cit36","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1080\/146608201316949523","article-title":"Additivity and potentiation of IGF-I and GDNF in the complete rescue of postnatal motor neurons","volume":"2","author":"Bilak","year":"2001","journal-title":"Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders"},{"issue":"3. Art.No.: CD0","key":"10.1002\/14651858.CD006282.pub2-BIB37|cit37","doi-asserted-by":"crossref","DOI":"10.1002\/14651858.CD004302.pub2","article-title":"Ciliary neurotrophic factor (CNTF) for amyotrophic lateral sclerosis\/motor neuron disease","author":"Bongioanni","year":"2004","journal-title":"Cochrane Database of Systematic Reviews"},{"issue":"18","key":"10.1002\/14651858.CD006282.pub2-BIB38|cit38","doi-asserted-by":"crossref","first-page":"1925","DOI":"10.1093\/hmg\/10.18.1925","article-title":"Protective effects of cardiotrophin-1 adenoviral gene transfer on neuromuscular degeneration in transgenic ALS mice","volume":"10","author":"Bordet","year":"2001","journal-title":"Human Molecular Genetics"},{"key":"10.1002\/14651858.CD006282.pub2-BIB39|cit39","doi-asserted-by":"crossref","unstructured":"Bosboom WMJ Vrancken AFJE van den Berg LH Wokke JHJ Iannaccone ST Drug treatment for spinal muscular atrophy type I Cochrane Database of Systematic Reviews 2008","DOI":"10.1002\/14651858.CD006281.pub2"},{"issue":"9","key":"10.1002\/14651858.CD006282.pub2-BIB40|cit40","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1002\/mus.880130910","article-title":"Critical review of gangliosides and thyrotropin-releasing hormone in peripheral neuromuscular diseases","volume":"13","author":"Bradley","year":"1990","journal-title":"Muscle & Nerve"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB41|cit41","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1007\/BF00313933","article-title":"Carnitine and acyltransferase in experimental neurogenic atrophies: changes with treatment","volume":"231","author":"Bresolin","year":"1984","journal-title":"Journal of Neurology"},{"issue":"19","key":"10.1002\/14651858.CD006282.pub2-BIB42|cit42","doi-asserted-by":"crossref","first-page":"2481","DOI":"10.1093\/hmg\/ddg256","article-title":"Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy","volume":"12","author":"Brichta","year":"2003","journal-title":"Human Molecular Genetics"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB43|cit43","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1212\/WNL.36.2.146","article-title":"Controlled trial of thyrotropin releasing hormone in amyotrophic lateral sclerosis","volume":"36","author":"Brooke","year":"1986","journal-title":"Neurology"},{"key":"10.1002\/14651858.CD006282.pub2-BIB44|cit44","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1111\/j.1749-6632.1989.tb46663.x","article-title":"Thyrotropin-releasing hormone in ALS. Are the results of clinical studies inconsistent?","volume":"553","author":"Brooke","year":"1989","journal-title":"Annals of the New York Academy of Sciences"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB45|cit45","doi-asserted-by":"crossref","first-page":"549","DOI":"10.2165\/00003495-199652040-00010","article-title":"Riluzole. A review of its pharmacodynamic and pharmacokinetic properties and therapeutic potential in amyotrophic lateral sclerosis","volume":"52","author":"Bryson","year":"1996","journal-title":"Drugs"},{"issue":"6266","key":"10.1002\/14651858.CD006282.pub2-BIB46|cit46","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1038\/344540a0","article-title":"Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3","volume":"344","author":"Brzustowicz","year":"1990","journal-title":"Nature"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB47|cit47","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1016\/j.nbd.2007.01.008","article-title":"Neuroprotective effect of adult hematopoietic stem cells in a mouse model of motoneuron degeneration","volume":"26","author":"Cabanes","year":"2007","journal-title":"Neurobiology of Disease"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB48|cit48","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1212\/WNL.36.2.141","article-title":"A double-blind, placebo-controlled trial of TRH in amyotrophic lateral sclerosis","volume":"36","author":"Caroscio","year":"1986","journal-title":"Neurology"},{"issue":"1","key":"10.1002\/14651858.CD006282.pub2-BIB49|cit49","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1086\/498853","article-title":"Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2","volume":"78","author":"Cartegni","year":"2006","journal-title":"American Journal of Human Genetics"},{"issue":"11","key":"10.1002\/14651858.CD006282.pub2-BIB50|cit50","doi-asserted-by":"crossref","first-page":"1471","DOI":"10.1249\/00005768-199511000-00002","article-title":"The effects of albuterol and isokinetic exercise on the quadriceps muscle group","volume":"27","author":"Caruso","year":"1995","journal-title":"Medicine and Science in Sports and Exercise"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB51|cit51","first-page":"805","article-title":"Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy","volume":"57","author":"Cobben","year":"1995","journal-title":"American Journal of Human Genetics"},{"issue":"52","key":"10.1002\/14651858.CD006282.pub2-BIB52|cit52","first-page":"2525","article-title":"[From gene to disease; 'survival' motor neuron protein and hereditary proximal spinal muscle atrophy]","volume":"145","author":"Cobben","year":"2001","journal-title":"Nederlands Tijdschrift voor Geneeskunde"},{"issue":"7","key":"10.1002\/14651858.CD006282.pub2-BIB53|cit53","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1016\/j.nmd.2008.05.008","article-title":"Survival in SMA type I: a prospective analysis of 34 consecutive cases","volume":"18","author":"Cobben","year":"2008","journal-title":"Neuromuscular Disorders"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB54|cit54","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1006\/nbdi.1996.0010","article-title":"The neurobiology of childhood spinal muscular atrophy","volume":"3","author":"Crawford","year":"1996","journal-title":"Neurobiology of Disease"},{"issue":"6","key":"10.1002\/14651858.CD006282.pub2-BIB55|cit55","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1097\/MOP.0b013e3282f1884c","article-title":"Clinical trials in spinal muscular atrophy","volume":"19","author":"Darras","year":"2007","journal-title":"Current Opinion in Pediatrics"},{"issue":"1","key":"10.1002\/14651858.CD006282.pub2-BIB56|cit56","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1080\/146608201300079364","article-title":"A double-blind, placebo-controlled randomized clinical trial of alpha-tocopherol (vitamin E) in the treatment of amyotrophic lateral sclerosis. ALS riluzole-tocopherol Study Group","volume":"2","author":"Desnuelle","year":"2001","journal-title":"Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB57|cit57","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1016\/j.yexcr.2007.10.012","article-title":"Genetic conversion of an SMN2 gene to SMN1: a novel approach to the treatment of spinal muscular atrophy","volume":"314","author":"DiMatteo","year":"2008","journal-title":"Exp Cell Res"},{"issue":"1","key":"10.1002\/14651858.CD006282.pub2-BIB58|cit58","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/0960-8966(94)00075-K","article-title":"Chaos in the classification of SMA: a possible resolution","volume":"5","author":"Dubowitz","year":"1995","journal-title":"Neuromuscular Disorders"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB59|cit59","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/S1090-3798(99)80001-4","article-title":"Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype","volume":"3","author":"Dubowitz","year":"1999","journal-title":"European Journal of Paediatric Neurology"},{"issue":"14","key":"10.1002\/14651858.CD006282.pub2-BIB60|cit60","doi-asserted-by":"crossref","first-page":"967","DOI":"10.2165\/00023210-200418140-00002","article-title":"The role of creatine in the management of amyotrophic lateral sclerosis and other neurodegenerative disorders","volume":"18","author":"Ellis","year":"2004","journal-title":"CNS Drugs"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB61|cit61","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1086\/338627","article-title":"Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy","volume":"70","author":"Feldkotter","year":"2002","journal-title":"American Journal of Human Genetics"},{"key":"10.1002\/14651858.CD006282.pub2-BIB62|cit62","unstructured":"Franz DN Tudor CA Samaha FJ A phase I trial of recombinant human ciliary neurotrophic factor in spinal muscular atrophy Annals of Neurology 1995 546"},{"issue":"8","key":"10.1002\/14651858.CD006282.pub2-BIB63|cit63","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1093\/hmg\/ddm379","article-title":"Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect","volume":"17","author":"Gavrilina","year":"2008","journal-title":"Human Molecular Genetics"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB64|cit64","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1097\/00019052-199904000-00002","article-title":"Spinal muscular atrophy: molecular pathophysiology","volume":"12","author":"Gendron","year":"1999","journal-title":"Current Opinion in Neurology"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB65|cit65","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/S0887-8994(97)00026-X","article-title":"Diet- and valproate-induced transient hyperammonemia: effect of L-carnitine","volume":"16","author":"Gibal","year":"1997","journal-title":"Pediatric Neurology"},{"issue":"6278","key":"10.1002\/14651858.CD006282.pub2-BIB66|cit66","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1038\/345823a0","article-title":"Genetic homogeneity between acute and chronic forms of spinal muscular atrophy","volume":"345","author":"Gilliam","year":"1990","journal-title":"Nature"},{"issue":"5","key":"10.1002\/14651858.CD006282.pub2-BIB67|cit67","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1007\/s00702-004-0220-1","article-title":"High dose vitamin E therapy in amyotrophic lateral sclerosis as add-on therapy to riluzole: results of a placebo-controlled double-blind study","volume":"112","author":"Graf","year":"2005","journal-title":"Journal of Neural Transmission"},{"issue":"5","key":"10.1002\/14651858.CD006282.pub2-BIB68|cit68","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/0960-8966(94)00090-V","article-title":"Possible strategies for treatment of SMA patients: a neurobiologist's view","volume":"5","author":"Greensmith","year":"1995","journal-title":"Neuromuscular Disorders"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB69|cit69","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1002\/ana.10554","article-title":"A randomized sequential trial of creatine in amyotrophic lateral sclerosis","volume":"53","author":"Groeneveld","year":"2003","journal-title":"Annals of Neurology"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB70|cit70","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1002\/ana.20548","article-title":"Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells","volume":"58","author":"Grzeschik","year":"2005","journal-title":"Annals of Neurology"},{"key":"10.1002\/14651858.CD006282.pub2-BIB71|cit71","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1111\/j.1749-6632.1989.tb46662.x","article-title":"Use of TRH analogues in motorneurone disease","volume":"553","author":"Guiloff","year":"1989","journal-title":"Annals of the New York Academy of Sciences"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB72|cit72","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1038\/nm0497-429","article-title":"Gene therapy of murine motor neuron disease using adenoviral vectors for neurotrophic factors","volume":"3","author":"Haase","year":"1997","journal-title":"Nat Med"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB73|cit73","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1002\/mus.10455","article-title":"Riluzole attenuates spinal muscular atrophy disease progression in a mouse model","volume":"28","author":"Haddad","year":"2003","journal-title":"Muscle & Nerve"},{"issue":"9","key":"10.1002\/14651858.CD006282.pub2-BIB74|cit74","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1007\/s00415-002-0811-4","article-title":"Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity","volume":"249","author":"Harada","year":"2002","journal-title":"Journal of Neurology"},{"issue":"3","key":"10.1002\/14651858.CD006282.pub2-BIB75|cit75","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/0887-8994(93)90082-N","article-title":"Prospective study of spinal muscular atrophy before age 6 years. DCN\/SMA Group","volume":"9","author":"Iannaccone","year":"1993","journal-title":"Pediatric Neurology"},{"issue":"1","key":"10.1002\/14651858.CD006282.pub2-BIB76|cit76","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1055\/s-2008-1040858","article-title":"Spinal muscular atrophy","volume":"18","author":"Iannaccone","year":"1998","journal-title":"Seminars in Neurology"},{"key":"10.1002\/14651858.CD006282.pub2-BIB77|cit77","first-page":"83","article-title":"Spinal Muscular Atrophies","volume-title":"Neuromuscular Disorders","author":"Iannaccone","year":"2001"},{"issue":"8","key":"10.1002\/14651858.CD006282.pub2-BIB78|cit78","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1001\/archneur.60.8.1130","article-title":"Reliability of 4 outcome measures in pediatric spinal muscular atrophy","volume":"60","author":"Iannaccone","year":"2003","journal-title":"Archives of Neurology"},{"key":"10.1002\/14651858.CD006282.pub2-BIB79|cit79","doi-asserted-by":"crossref","first-page":"I37","DOI":"10.1007\/s004150050555","article-title":"The role of SMN in spinal muscular atrophy","volume":"247 Suppl 1","author":"Jablonka","year":"2000","journal-title":"Journal of Neurology"},{"issue":"9","key":"10.1002\/14651858.CD006282.pub2-BIB80|cit80","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1093\/hmg\/ddi130","article-title":"The role of histone acetylation in SMN gene expression","volume":"14","author":"Kernochan","year":"2005","journal-title":"Human Molecular Genetics"},{"issue":"1","key":"10.1002\/14651858.CD006282.pub2-BIB81|cit81","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.neuroscience.2007.04.018","article-title":"Anti-glutamatergic effect of riluzole: comparison with valproic acid","volume":"147","author":"Kim","year":"2007","journal-title":"Neuroscience"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB82|cit82","doi-asserted-by":"crossref","first-page":"95","DOI":"10.2165\/00007256-200737020-00001","article-title":"Do inhaled beta(2)-agonists have an ergogenic potential in non-asthmatic competitive athletes?","volume":"37","author":"Kindermann","year":"2007","journal-title":"Sports Med"},{"issue":"1","key":"10.1002\/14651858.CD006282.pub2-BIB83|cit83","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.brainres.2005.11.052","article-title":"L-carnitine suppresses the onset of neuromuscular degeneration and increases the life span of mice with familial amyotrophic lateral sclerosis","volume":"1070","author":"Kira","year":"2006","journal-title":"Brain Research"},{"issue":"8","key":"10.1002\/14651858.CD006282.pub2-BIB84|cit84","doi-asserted-by":"crossref","first-page":"1434","DOI":"10.1212\/WNL.57.8.1434","article-title":"Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy","volume":"57","author":"Kissel","year":"2001","journal-title":"Neurology"},{"issue":"1. Art. No.: CD","key":"10.1002\/14651858.CD006282.pub2-BIB85|cit85","doi-asserted-by":"crossref","DOI":"10.1002\/14651858.CD004760.pub2","article-title":"Creatine for treating muscle disorders","author":"Kley","year":"2007","journal-title":"Cochrane Database of Systematic Reviews"},{"issue":"5","key":"10.1002\/14651858.CD006282.pub2-BIB86|cit86","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1053\/ejpn.2001.0510","article-title":"Muscle strength and motor function in children and adolescents with spinal muscular atrophy II and III","volume":"5","author":"Kroksmark","year":"2001","journal-title":"European Journal of Paediatric Neurology"},{"issue":"9013","key":"10.1002\/14651858.CD006282.pub2-BIB87|cit87","doi-asserted-by":"crossref","first-page":"1425","DOI":"10.1016\/S0140-6736(96)91680-3","article-title":"Dose-ranging study of riluzole in amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis\/Riluzole Study Group II","volume":"347","author":"Lacomblez","year":"1996","journal-title":"Lancet"},{"issue":"1","key":"10.1002\/14651858.CD006282.pub2-BIB88|cit88","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"issue":"3","key":"10.1002\/14651858.CD006282.pub2-BIB89|cit89","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1038\/ng0797-265","article-title":"Correlation between severity and SMN protein level in spinal muscular atrophy","volume":"16","author":"Lefebvre","year":"1997","journal-title":"Nature Genetics"},{"issue":"10","key":"10.1002\/14651858.CD006282.pub2-BIB90|cit90","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1093\/hmg\/7.10.1531","article-title":"The role of the SMN gene in proximal spinal muscular atrophy","volume":"7","author":"Lefebvre","year":"1998","journal-title":"Human Molecular Genetics"},{"issue":"11","key":"10.1002\/14651858.CD006282.pub2-BIB91|cit91","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1093\/hmg\/ddg143","article-title":"Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophy","volume":"12","author":"Lesbordes","year":"2003","journal-title":"Human Molecular Genetics"},{"issue":"1","key":"10.1002\/14651858.CD006282.pub2-BIB92|cit92","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1038\/ng0598-63","article-title":"SMN oligomerization defect correlates with spinal muscular atrophy severity","volume":"19","author":"Lorson","year":"1998","journal-title":"Nature Genetics"},{"issue":"11","key":"10.1002\/14651858.CD006282.pub2-BIB93|cit93","doi-asserted-by":"crossref","first-page":"6307","DOI":"10.1073\/pnas.96.11.6307","article-title":"A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy","volume":"96","author":"Lorson","year":"1999","journal-title":"Proceedings of the National Academy of Sciences of the United States of America"},{"issue":"9630","key":"10.1002\/14651858.CD006282.pub2-BIB94|cit94","doi-asserted-by":"crossref","first-page":"2120","DOI":"10.1016\/S0140-6736(08)60921-6","article-title":"Spinal muscular atrophy","volume":"371","author":"Lunn","year":"2008","journal-title":"Lancet"},{"issue":"5","key":"10.1002\/14651858.CD006282.pub2-BIB95|cit95","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1042\/cs0830615","article-title":"Salbutamol, a beta 2-adrenoceptor agonist, increases skeletal muscle strength in young men","volume":"83","author":"Martineau","year":"1992","journal-title":"Clinical Science (London)"},{"key":"10.1002\/14651858.CD006282.pub2-BIB96|cit96","doi-asserted-by":"crossref","first-page":"S57","DOI":"10.1016\/S0022-510X(98)00199-3","article-title":"The natural history and the effects of gabapentin in amyotrophic lateral sclerosis","volume":"160 Suppl 1","author":"Mazzini","year":"1998","journal-title":"Journal of the Neurological Sciences"},{"issue":"5","key":"10.1002\/14651858.CD006282.pub2-BIB97|cit97","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1083\/jcb.200303168","article-title":"Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding","volume":"162","author":"McWhorter","year":"2003","journal-title":"Journal of Cell Biology"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB98|cit98","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1080\/14660820410019602","article-title":"Efficacy and safety of xaliproden in amyotrophic lateral sclerosis: results of two phase III trials","volume":"5","author":"Meininger","year":"2004","journal-title":"Amyotroph Lateral Scler Other Motor Neuron Disord"},{"issue":"6268","key":"10.1002\/14651858.CD006282.pub2-BIB99|cit99","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1038\/344767a0","article-title":"Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q","volume":"344","author":"Melki","year":"1990","journal-title":"Nature"},{"issue":"8710","key":"10.1002\/14651858.CD006282.pub2-BIB100|cit100","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/0140-6736(90)91803-I","article-title":"Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators","volume":"336","author":"Melki","year":"1990","journal-title":"Lancet"},{"issue":"5164","key":"10.1002\/14651858.CD006282.pub2-BIB101|cit101","doi-asserted-by":"crossref","first-page":"1474","DOI":"10.1126\/science.7910982","article-title":"De novo and inherited deletions of the 5q13 region in spinal muscular atrophies","volume":"264","author":"Melki","year":"1994","journal-title":"Science"},{"issue":"1","key":"10.1002\/14651858.CD006282.pub2-BIB102|cit102","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1136\/jnnp.74.1.99","article-title":"Connecting impairment, disability, and handicap in immune mediated polyneuropathies","volume":"74","author":"Merkies","year":"2003","journal-title":"Journal of Neurology, Neurosurgery, and Psychiatry"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB103|cit103","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/S0960-8966(01)00272-3","article-title":"90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands","volume":"12","author":"Merlini","year":"2002","journal-title":"Neuromuscular Disorders"},{"issue":"5","key":"10.1002\/14651858.CD006282.pub2-BIB104|cit104","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1055\/s-2004-821173","article-title":"Pilot trial of salbutamol in central core and multi-minicore diseases","volume":"35","author":"Messina","year":"2004","journal-title":"Neuropediatrics"},{"issue":"4 Suppl 2","key":"10.1002\/14651858.CD006282.pub2-BIB105|cit105","doi-asserted-by":"crossref","first-page":"S86","DOI":"10.1212\/WNL.47.4_Suppl_2.86S","article-title":"Clinical trials of riluzole in patients with ALS. ALS\/Riluzole Study Group-II","volume":"47","author":"Miller","year":"1996","journal-title":"Neurology"},{"issue":"6","key":"10.1002\/14651858.CD006282.pub2-BIB106|cit106","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1212\/WNL.47.6.1383","article-title":"Placebo-controlled trial of gabapentin in patients with amyotrophic lateral sclerosis. WALS Study Group. Western Amyotrophic Lateral Sclerosis Study Group","volume":"47","author":"Miller","year":"1996","journal-title":"Neurology"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB107|cit107","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1002\/ana.410390215","article-title":"A placebo-controlled trial of recombinant human ciliary neurotrophic (rhCNTF) factor in amyotrophic lateral sclerosis. rhCNTF ALS Study Group","volume":"39","author":"Miller","year":"1996","journal-title":"Annals of Neurology"},{"issue":"1-2","key":"10.1002\/14651858.CD006282.pub2-BIB108|cit108","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/S0022-510X(01)00632-3","article-title":"A placebo-controlled trial of gabapentin in spinal muscular atrophy","volume":"191","author":"Miller","year":"2001","journal-title":"Journal of the Neurological Sciences"},{"issue":"7","key":"10.1002\/14651858.CD006282.pub2-BIB109|cit109","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1212\/WNL.56.7.843","article-title":"Phase III randomized trial of gabapentin in patients with amyotrophic lateral sclerosis","volume":"56","author":"Miller","year":"2001","journal-title":"Neurology"},{"issue":"1. Art No.: CD0","key":"10.1002\/14651858.CD006282.pub2-BIB110|cit110","doi-asserted-by":"crossref","DOI":"10.1002\/14651858.CD001447.pub2","article-title":"Riluzole for amyotrophic lateral sclerosis (ALS)\/motor neuron disease (MND)","author":"Miller","year":"2007","journal-title":"Cochrane Database of Systematic Reviews"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB111|cit111","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1212\/WNL.36.2.152","article-title":"Amyotrophic lateral sclerosis: effects of acute intravenous and chronic subcutaneous administration of thyrotropin-releasing hormone in controlled trials","volume":"36","author":"Mitsumoto","year":"1986","journal-title":"Neurology"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB112|cit112","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/0960-8966(91)90052-T","article-title":"Workshop report: International SMA Collaboration","volume":"1","author":"Munsat","year":"1991","journal-title":"Neuromuscular Disorders"},{"issue":"5-6","key":"10.1002\/14651858.CD006282.pub2-BIB113|cit113","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0960-8966(06)80015-5","article-title":"International SMA consortium meeting. (26-28 June 1992, Bonn, Germany)","volume":"2","author":"Munsat","year":"1992","journal-title":"Neuromuscular Disorders"},{"issue":"5","key":"10.1002\/14651858.CD006282.pub2-BIB114|cit114","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1212\/WNL.42.5.1049","article-title":"Intrathecal thyrotropin-releasing hormone does not alter the progressive course of ALS: experience with an intrathecal drug delivery system","volume":"42","author":"Munsat","year":"1992","journal-title":"Neurology"},{"issue":"1","key":"10.1002\/14651858.CD006282.pub2-BIB115|cit115","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1002\/mus.10110","article-title":"Spinal muscular atrophy: recent advances and future prospects","volume":"26","author":"Nicole","year":"2002","journal-title":"Muscle & Nerve"},{"issue":"5875","key":"10.1002\/14651858.CD006282.pub2-BIB116|cit116","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1126\/science.1155085","article-title":"Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy","volume":"320","author":"Oprea","year":"2008","journal-title":"Science"},{"issue":"1","key":"10.1002\/14651858.CD006282.pub2-BIB117|cit117","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1007\/BF03033366","article-title":"Survival motor neuron protein regulates apoptosis in an in vitro model of spinal muscular atrophy","volume":"13","author":"Parker","year":"2008","journal-title":"Neurotox Res"},{"issue":"6","key":"10.1002\/14651858.CD006282.pub2-BIB118|cit118","doi-asserted-by":"crossref","first-page":"1712","DOI":"10.1086\/302160","article-title":"Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number","volume":"63","author":"Parsons","year":"1998","journal-title":"American Journal of Human Genetics"},{"issue":"5","key":"10.1002\/14651858.CD006282.pub2-BIB119|cit119","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1016\/S0092-8674(00)81632-3","article-title":"A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing","volume":"95","author":"Pellizzoni","year":"1998","journal-title":"Cell"},{"key":"10.1002\/14651858.CD006282.pub2-BIB120|cit120","series-title":"Abstracts of the American Academy of Neurology 60th Annual meeting, April 12-19, 2008, Chicago USA","article-title":"A Randomized Sequential Trial of Valproic Acid in ALS","author":"Piepers","year":"2008"},{"key":"10.1002\/14651858.CD006282.pub2-BIB121|cit121","doi-asserted-by":"crossref","unstructured":"Piepers S van den Berg LH Brugman F Scheffer H Ruiterkamp-Versteeg M van Engelen BG A natural history study of late onset spinal muscular atrophy types 3b and 4 Journal of Neurology 2008","DOI":"10.1007\/s00415-008-0929-0"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB122|cit122","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1001\/archneur.55.4.526","article-title":"An analysis of extended survival in patients with amyotrophic lateral sclerosis treated with riluzole","volume":"55","author":"Riviere","year":"1998","journal-title":"Archives of Neurology"},{"issue":"2. Art.No.: CD0","key":"10.1002\/14651858.CD006282.pub2-BIB123|cit123","doi-asserted-by":"crossref","DOI":"10.1002\/14651858.CD002276.pub2","article-title":"Drug treatment for facioscapulohumeral muscular dystrophy","author":"Rose","year":"2004","journal-title":"Cochrane Database of Systematic Reviews"},{"issue":"21","key":"10.1002\/14651858.CD006282.pub2-BIB124|cit124","doi-asserted-by":"crossref","first-page":"5535","DOI":"10.1523\/JNEUROSCI.1139-07.2007","article-title":"Sodium valproate exerts neuroprotective effects in vivo through CREB-binding protein-dependent mechanisms but does not improve survival in an amyotrophic lateral sclerosis mouse model","volume":"27","author":"Rouaux","year":"2007","journal-title":"Journal of Neuroscience"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB125|cit125","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1177\/088307389200700403","article-title":"Spinal muscular atrophy: new thoughts on the pathogenesis and classification schema","volume":"7","author":"Russman","year":"1992","journal-title":"Journal of Child Neurology"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB126|cit126","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1212\/WNL.47.4.973","article-title":"Function changes in spinal muscular atrophy II and III. The DCN\/SMA Group","volume":"47","author":"Russman","year":"1996","journal-title":"Neurology"},{"issue":"11","key":"10.1002\/14651858.CD006282.pub2-BIB127|cit127","doi-asserted-by":"crossref","first-page":"1601","DOI":"10.1001\/archneur.60.11.1601","article-title":"A phase 1 trial of riluzole in spinal muscular atrophy","volume":"60","author":"Russman","year":"2003","journal-title":"Archives of Neurology"},{"issue":"1","key":"10.1002\/14651858.CD006282.pub2-BIB128|cit128","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1034\/j.1600-0404.2003.00111.x","article-title":"A double-blind randomized clinical trial in amyotrophic lateral sclerosis using lamotrigine: effects on CSF glutamate, aspartate, branched-chain amino acid levels and clinical parameters","volume":"108","author":"Ryberg","year":"2003","journal-title":"Acta Neurologica Scandinavica"},{"issue":"3","key":"10.1002\/14651858.CD006282.pub2-BIB129|cit129","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1212\/01.WNL.0000044405.29988.E1","article-title":"Creatine monohydrate in DM2\/PROMM: a double-blind placebo-controlled clinical study. Proximal myotonic myopathy","volume":"60","author":"Schneider-Gold","year":"2003","journal-title":"Neurology"},{"issue":"9","key":"10.1002\/14651858.CD006282.pub2-BIB130|cit130","doi-asserted-by":"crossref","first-page":"1656","DOI":"10.1212\/01.WNL.0000142992.81995.F0","article-title":"A clinical trial of creatine in ALS","volume":"63","author":"Shefner","year":"2004","journal-title":"Neurology"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB131|cit131","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1080\/14660820600600558","article-title":"A pilot trial with clenbuterol in amyotrophic lateral sclerosis","volume":"7","author":"Soraru","year":"2006","journal-title":"Amyotrophic Lateral Sclerosis"},{"issue":"5","key":"10.1002\/14651858.CD006282.pub2-BIB132|cit132","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1002\/ana.10743","article-title":"Valproic acid increases SMN levels in spinal muscular atrophy patient cells","volume":"54","author":"Sumner","year":"2003","journal-title":"Annals of Neurology"},{"issue":"8","key":"10.1002\/14651858.CD006282.pub2-BIB133|cit133","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1177\/0883073807305787","article-title":"Molecular mechanisms of spinal muscular atrophy","volume":"22","author":"Sumner","year":"2007","journal-title":"Journal of Child Neurology"},{"issue":"5","key":"10.1002\/14651858.CD006282.pub2-BIB134|cit134","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1002\/ana.20473","article-title":"Natural history of denervation in SMA: relation to age, SMN2 copy number, and function","volume":"57","author":"Swoboda","year":"2005","journal-title":"Annals of Neurology"},{"issue":"3","key":"10.1002\/14651858.CD006282.pub2-BIB135|cit135","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1177\/088307389400900313","article-title":"Efficacy of thyrotropin-releasing hormone in the treatment of spinal muscular atrophy","volume":"9","author":"Takeuchi","year":"1994","journal-title":"Journal of Child Neurology"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB136|cit136","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1023\/A:1005516625866","article-title":"Spinal muscular atrophy","volume":"22","author":"Talbot","year":"1999","journal-title":"Journal of Inherited Metabolic Disease"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB137|cit137","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1212\/WNL.52.4.854","article-title":"Creatine monohydrate increases strength in patients with neuromuscular disease","volume":"52","author":"Tarnopolsky","year":"1999","journal-title":"Neurology"},{"issue":"3","key":"10.1002\/14651858.CD006282.pub2-BIB138|cit138","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/S0920-1211(97)00084-3","article-title":"A summary of mechanistic hypotheses of gabapentin pharmacology","volume":"29","author":"Taylor","year":"1998","journal-title":"Epilepsy Res"},{"issue":"5-6","key":"10.1002\/14651858.CD006282.pub2-BIB139|cit139","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/0960-8966(94)90090-6","article-title":"The natural history of type I (severe) spinal muscular atrophy","volume":"4","author":"Thomas","year":"1994","journal-title":"Neuromuscular Disorders"},{"issue":"3","key":"10.1002\/14651858.CD006282.pub2-BIB140|cit140","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1021\/jm061475p","article-title":"Synthesis and biological evaluation of novel 2,4-diaminoquinazoline derivatives as SMN2 promoter activators for the potential treatment of spinal muscular atrophy","volume":"51","author":"Thurmond","year":"2008","journal-title":"Journal of Medicinal Chemistry"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB141|cit141","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1007\/s00415-003-1026-z","article-title":"An outcome study of riluzole in amyotrophic lateral sclerosis--a population-based study in Ireland, 1996-2000","volume":"250","author":"Traynor","year":"2003","journal-title":"Journal of Neurology"},{"issue":"7","key":"10.1002\/14651858.CD006282.pub2-BIB142|cit142","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1007\/s00415-006-0432-4","article-title":"Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy","volume":"254","author":"Kooi","year":"2007","journal-title":"Journal of Neurology"},{"issue":"6","key":"10.1002\/14651858.CD006282.pub2-BIB143|cit143","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1212\/WNL.56.6.749","article-title":"Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS","volume":"56","author":"Veldink","year":"2001","journal-title":"Neurology"},{"issue":"9","key":"10.1002\/14651858.CD006282.pub2-BIB144|cit144","doi-asserted-by":"crossref","first-page":"1848","DOI":"10.1212\/WNL.54.9.1848","article-title":"Creatine monohydrate in muscular dystrophies: A double-blind, placebo-controlled clinical study","volume":"54","author":"Walter","year":"2000","journal-title":"Neurology"},{"issue":"8","key":"10.1002\/14651858.CD006282.pub2-BIB145|cit145","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1177\/0883073807305788","article-title":"Consensus statement for standard of care in spinal muscular atrophy","volume":"22","author":"Wang","year":"2007","journal-title":"Journal of Child Neurology"},{"issue":"3","key":"10.1002\/14651858.CD006282.pub2-BIB146|cit146","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9","article-title":"An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)","volume":"15","author":"Wirth","year":"2000","journal-title":"Human Mutation"},{"key":"10.1002\/14651858.CD006282.pub2-BIB147|cit147","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/978-3-540-34449-0_6","article-title":"Spinal muscular atrophy and therapeutic prospects","volume":"44","author":"Wirth","year":"2006","journal-title":"Progress in Molecular and Subcellular Biology"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB148|cit148","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.spen.2006.06.008","article-title":"Spinal muscular atrophy: from gene to therapy","volume":"13","author":"Wirth","year":"2006","journal-title":"Seminars in Pediatric Neurology"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB149|cit149","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1007\/s00439-006-0156-7","article-title":"Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number","volume":"119","author":"Wirth","year":"2006","journal-title":"Human Genetics"},{"issue":"9030","key":"10.1002\/14651858.CD006282.pub2-BIB150|cit150","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1016\/S0140-6736(96)03181-9","article-title":"Riluzole","volume":"348","author":"Wokke","year":"1996","journal-title":"Lancet"},{"issue":"1. Art No.: CD0","key":"10.1002\/14651858.CD006282.pub2-BIB151|cit151","doi-asserted-by":"crossref","DOI":"10.1002\/14651858.CD006052.pub2","article-title":"Treatment for Charcot-Marie-Tooth disease","author":"Young","year":"2008","journal-title":"Cochrane Database of Systematic Reviews"},{"issue":"1","key":"10.1002\/14651858.CD006282.pub2-BIB152|cit152","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1002\/ana.21241","article-title":"5-(N-ethyl-N-isopropyl)-amiloride enhances SMN2 exon 7 inclusion and protein expression in spinal muscular atrophy cells","volume":"63","author":"Yuo","year":"2008","journal-title":"Annals of Neurology"},{"issue":"5","key":"10.1002\/14651858.CD006282.pub2-BIB153|cit153","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1001\/archneur.1995.00540290108025","article-title":"Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications","volume":"52","author":"Zerres","year":"1995","journal-title":"Archives of Neurology"},{"issue":"1","key":"10.1002\/14651858.CD006282.pub2-BIB154|cit154","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/S0022-510X(96)00284-5","article-title":"A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients","volume":"146","author":"Zerres","year":"1997","journal-title":"Journal of the Neurological Sciences"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB155|cit155","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/S0960-8966(99)00016-4","article-title":"59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands","volume":"9","author":"Zerres","year":"1999","journal-title":"Neuromuscular Disorders"},{"issue":"4","key":"10.1002\/14651858.CD006282.pub2-BIB156|cit156","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1016\/j.bbrc.2007.10.096","article-title":"SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity","volume":"364","author":"Zou","year":"2007","journal-title":"Biochem Biophys Res Commun"},{"issue":"2","key":"10.1002\/14651858.CD006282.pub2-BIB157|cit157","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1002\/(SICI)1097-4547(19960415)44:2<133::AID-JNR5>3.0.CO;2-E","article-title":"Combined effects of GDNF, BDNF, and CNTF on motoneuron differentiation in vitro","volume":"44","author":"Zurn","year":"1996","journal-title":"Journal of Neuroscience Research"}],"container-title":["Cochrane Database of Systematic Reviews"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/14651858.CD006282.pub2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,9]],"date-time":"2021-08-09T17:57:23Z","timestamp":1628531843000},"score":1,"resource":{"primary":{"URL":"https:\/\/doi.wiley.com\/10.1002\/14651858.CD006282.pub2"}},"subtitle":[],"editor":[{"given":"Wendy MJ","family":"Bosboom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2009,1,21]]},"references-count":157,"URL":"https:\/\/doi.org\/10.1002\/14651858.cd006282.pub2","relation":{},"subject":[],"published":{"date-parts":[[2009,1,21]]}}}