{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:40:42Z","timestamp":1760776842983,"version":"build-2065373602"},"reference-count":80,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2024,5]]},"DOI":"10.1016\/j.nmd.2024.03.003","type":"journal-article","created":{"date-parts":[[2024,3,11]],"date-time":"2024-03-11T05:00:16Z","timestamp":1710133216000},"page":"8-19","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["271st ENMC international workshop: Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands"],"prefix":"10.1016","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8634-0767","authenticated-orcid":false,"given":"M.","family":"Pennuto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.F.","family":"Pradat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Sorar\u00f9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Greensmith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuela","family":"Basso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Bertolotti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mamede","family":"de Carvalho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianni","family":"Fabris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Fenu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pietro","family":"Fratta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth","family":"Fischbeck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"Greensmith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Illana","family":"Gozes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahisa","family":"Katsuno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bilal","family":"Malik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"MacLean","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ed","family":"Meyertholen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Pennuto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Pilati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre Francois","family":"Pradat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo","family":"Poletti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgia","family":"Querin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Rinaldi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Ronzitti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xavier","family":"Salvatella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kim","family":"Slowe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianni","family":"Soraru","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Vissing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus","family":"Weber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Weydt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Zampedri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo","family":"Zanovello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emanuela","family":"Zuccaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2024.03.003_bib0001","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1016\/j.nmd.2015.06.462","article-title":"210th ENMC international workshop: research and clinical management of patients with spinal and bulbar muscular atrophy, 27\u201329 March 2015, Naarden, The Netherlands","volume":"25","author":"Pennuto","year":"2015","journal-title":"Neuromusc. Disorders"},{"key":"10.1016\/j.nmd.2024.03.003_bib0002","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1016\/j.nmd.2019.07.008","article-title":"241st ENMC international workshop: towards a European unifying lab for Kennedy's disease. 15\u201317th February 2019 Hoofddorp, The Netherlands","volume":"29","author":"Greensmith","year":"2019","journal-title":"Neuromusc. Disorders"},{"key":"10.1016\/j.nmd.2024.03.003_bib0003","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1212\/WNL.18.7.671","article-title":"Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex-linked recessive trait","volume":"18","author":"Kennedy","year":"1968","journal-title":"Neurology."},{"key":"10.1016\/j.nmd.2024.03.003_bib0004","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/352077a0","article-title":"Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy","volume":"352","author":"La Spada","year":"1991","journal-title":"Nature"},{"key":"10.1016\/j.nmd.2024.03.003_bib0005","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1007\/s00415-018-8968-7","article-title":"Kennedy's disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease","volume":"266","author":"Breza","year":"2019","journal-title":"J. Neurol."},{"key":"10.1016\/j.nmd.2024.03.003_bib0006","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1136\/jnnp-2020-322949","article-title":"Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA)","volume":"91","author":"Hashizume","year":"2020","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.nmd.2024.03.003_bib0007","doi-asserted-by":"crossref","first-page":"3242","DOI":"10.1093\/brain\/awp258","article-title":"Clinical features of spinal and bulbar muscular atrophy","volume":"132","author":"Rhodes","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2024.03.003_bib0008","doi-asserted-by":"crossref","first-page":"2723","DOI":"10.1093\/brain\/awad050","article-title":"Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population","volume":"146","author":"Zanovello","year":"2023","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2024.03.003_bib0009","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.136539","article-title":"Linking epigenetic dysregulation, mitochondrial impairment, and metabolic dysfunction in SBMA motor neurons","volume":"5","author":"Pourshafie","year":"2020","journal-title":"JCI. Insight."},{"key":"10.1016\/j.nmd.2024.03.003_bib0010","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/ana.21540","article-title":"Phase 2 trial of leuprorelin in patients with spinal and bulbar muscular atrophy","volume":"65","author":"Banno","year":"2009","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.nmd.2024.03.003_bib0011","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1016\/S1474-4422(10)70182-4","article-title":"Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multicentre, randomised, double-blind, placebo-controlled trial","volume":"9","author":"Katsuno","year":"2010","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.nmd.2024.03.003_bib0012","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/S1474-4422(10)70321-5","article-title":"Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial","volume":"10","author":"Fern\u00e1ndez-Rhodes","year":"2011","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.nmd.2024.03.003_bib0013","doi-asserted-by":"crossref","first-page":"1979","DOI":"10.1093\/hmg\/ddw073","article-title":"A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy","volume":"25","author":"Bott","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nmd.2024.03.003_bib0014","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1016\/j.neuron.2010.08.034","article-title":"Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy","volume":"67","author":"Nedelsky","year":"2010","journal-title":"Neuron"},{"key":"10.1016\/j.nmd.2024.03.003_bib0015","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1038\/nm.4500","article-title":"Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy","volume":"24","author":"Badders","year":"2018","journal-title":"Nat. Med."},{"key":"10.1016\/j.nmd.2024.03.003_bib0016","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1038\/s41467-023-36186-9","article-title":"LSD1\/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice","volume":"14","author":"Prakasam","year":"2023","journal-title":"Nat. Commun."},{"key":"10.1016\/j.nmd.2024.03.003_bib0017","doi-asserted-by":"crossref","first-page":"eabi6896","DOI":"10.1126\/sciadv.abi6896","article-title":"Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity","volume":"7","author":"Lim","year":"2021","journal-title":"Sci. Adv."},{"key":"10.1016\/j.nmd.2024.03.003_bib0018","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.1038\/s41594-023-01159-5","article-title":"Rational optimization of a transcription factor activation domain inhibitor","volume":"30","author":"Basu","year":"2023","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.nmd.2024.03.003_bib0019","doi-asserted-by":"crossref","first-page":"2034","DOI":"10.1038\/s41467-019-09923-2","article-title":"Side chain to main chain hydrogen bonds stabilize a polyglutamine helix in a transcription factor","volume":"10","author":"Escobedo","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.nmd.2024.03.003_bib0020","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1080\/15548627.2022.2160564","article-title":"The chaperone-assisted selective autophagy complex dynamics and dysfunctions","volume":"19","author":"Tedesco","year":"2023","journal-title":"Autophagy."},{"key":"10.1016\/j.nmd.2024.03.003_bib0021","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1080\/15548627.2018.1535292","article-title":"Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration","volume":"15","author":"Rusmini","year":"2019","journal-title":"Autophagy."},{"key":"10.1016\/j.nmd.2024.03.003_bib0022","doi-asserted-by":"crossref","DOI":"10.1007\/s13311-023-01343-x","article-title":"Bicalutamide and trehalose ameliorate spinal and bulbar muscular atrophy pathology in mice","author":"Galbiati","year":"2023","journal-title":"Neurotherapeutics."},{"key":"10.1016\/j.nmd.2024.03.003_bib0023","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1007\/s00401-022-02428-1","article-title":"AR cooperates with SMAD4 to maintain skeletal muscle homeostasis","volume":"143","author":"Forouhan","year":"2022","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.nmd.2024.03.003_bib0024","doi-asserted-by":"crossref","first-page":"325","DOI":"10.3390\/cells9020325","article-title":"Polyglutamine-expanded androgen receptor alteration of skeletal muscle homeostasis and myonuclear aggregation are affected by sex, age and muscle metabolism","volume":"9","author":"Chivet","year":"2020","journal-title":"Cells"},{"key":"10.1016\/j.nmd.2024.03.003_bib0025","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/s41467-023-36185-w","article-title":"Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle","volume":"14","author":"Marchioretti","year":"2023","journal-title":"Nat. Commun."},{"key":"10.1016\/j.nmd.2024.03.003_bib0026","doi-asserted-by":"crossref","first-page":"670","DOI":"10.3389\/fimmu.2020.00670","article-title":"Human immune responses to adeno-associated virus (AAV) vectors","volume":"11","author":"Ronzitti","year":"2020","journal-title":"Front. Immunol."},{"key":"10.1016\/j.nmd.2024.03.003_bib0027","doi-asserted-by":"crossref","first-page":"8S46","DOI":"10.1016\/S0929-693X(23)00227-0","article-title":"Current limitations of gene therapy for rare pediatric diseases: lessons learned from clinical experience with AAV vectors","volume":"30","author":"Gardin","year":"2023","journal-title":"Arch. Pediatr."},{"key":"10.1016\/j.nmd.2024.03.003_bib0028","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2022.857276","article-title":"Overcoming the challenges imposed by humoral immunity to aav vectors to achieve safe and efficient gene transfer in seropositive patients","volume":"13","author":"Gross","year":"2022","journal-title":"Front. Immunol."},{"key":"10.1016\/j.nmd.2024.03.003_bib0029","doi-asserted-by":"crossref","DOI":"10.1172\/JCI172018","article-title":"A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III","volume":"134","author":"Gardin","year":"2024","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.nmd.2024.03.003_bib0030","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1002\/jimd.12625","article-title":"Muscle-specific, liver-detargeted adeno-associated virus gene therapy rescues Pompe phenotype in adult and neonate Gaa-\/- mice","volume":"47","author":"Sellier","year":"2024","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.nmd.2024.03.003_bib0031","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1056\/NEJMoa2214084","article-title":"Gene therapy in patients with the crigler-najjar syndrome","volume":"389","author":"D'Antiga","year":"2023","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.nmd.2024.03.003_bib0032","doi-asserted-by":"crossref","first-page":"4919","DOI":"10.1016\/j.cell.2021.08.028","article-title":"Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species","volume":"184","author":"Tabebordbar","year":"2021","journal-title":"Cell"},{"key":"10.1016\/j.nmd.2024.03.003_bib0033","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.neuron.2014.12.031","article-title":"Protein arginine methyltransferase 6 enhances polyglutamine-expanded androgen receptor function and toxicity in spinal and bulbar muscular atrophy","volume":"85","author":"Scaramuzzino","year":"2015","journal-title":"Neuron"},{"key":"10.1016\/j.nmd.2024.03.003_bib0034","doi-asserted-by":"crossref","first-page":"2534","DOI":"10.1523\/JNEUROSCI.20-07-02534.2000","article-title":"Early and selective loss of neuromuscular synapse subtypes with low sprouting competence in motoneuron diseases","volume":"20","author":"Frey","year":"2000","journal-title":"J. Neurosci."},{"key":"10.1016\/j.nmd.2024.03.003_bib0035","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1007\/s00401-017-1708-8","article-title":"Motor neuron vulnerability and resistance in amyotrophic lateral sclerosis","volume":"133","author":"Nijssen","year":"2017","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.nmd.2024.03.003_bib0036","first-page":"e4","article-title":"FIN-Seq: transcriptional profiling of specific cell types from frozen archived tissue of the human central nervous system","volume":"48","author":"Amamoto","year":"2020","journal-title":"Nucleic. Acids. Res."},{"key":"10.1016\/j.nmd.2024.03.003_bib0037","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.ade1694","article-title":"Antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain of function","author":"Piol","year":"2023","journal-title":"Sci. Adv."},{"key":"10.1016\/j.nmd.2024.03.003_bib0038","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aaf9526","article-title":"Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy","volume":"8","author":"Polanco","year":"2016","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.nmd.2024.03.003_bib0039","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1038\/s41398-023-02618-9","article-title":"Unexpected gender differences in progressive supranuclear palsy reveal efficacy for davunetide in women","volume":"13","author":"Gozes","year":"2023","journal-title":"Transl. Psychiatry"},{"key":"10.1016\/j.nmd.2024.03.003_bib0040","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1016\/S0166-2236(00)01892-0","article-title":"Kv3 channels: voltage-gated K+ channels designed for high-frequency repetitive firing","volume":"24","author":"Rudy","year":"2001","journal-title":"Trends. Neurosci."},{"key":"10.1016\/j.nmd.2024.03.003_bib0041","article-title":"Deterioration of muscle force and contractile characteristics are early pathological events in spinal and bulbar muscular atrophy mice","volume":"13","author":"Gray","year":"2020","journal-title":"Dis. Model. Mech."},{"key":"10.1016\/j.nmd.2024.03.003_bib0042","doi-asserted-by":"crossref","first-page":"3539","DOI":"10.1038\/s41598-019-40118-3","article-title":"Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of spinal and bulbar muscular atrophy","volume":"9","author":"Malik","year":"2019","journal-title":"Sci. Rep."},{"key":"10.1016\/j.nmd.2024.03.003_bib0043","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1093\/brain\/aws343","article-title":"Co-induction of the heat shock response ameliorates disease progression in a mouse model of human spinal and bulbar muscular atrophy: implications for therapy","volume":"136","author":"Malik","year":"2013","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2024.03.003_bib0044","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1016\/S0896-6273(04)00082-0","article-title":"Androgen receptor YAC transgenic mice recapitulate SBMA motor neuronopathy and implicate VEGF164 in the motor neuron degeneration","volume":"41","author":"Sopher","year":"2004","journal-title":"Neuron"},{"key":"10.1016\/j.nmd.2024.03.003_bib0045","doi-asserted-by":"crossref","DOI":"10.1096\/fj.201701151RRR","article-title":"Galectin-3 and N-acetylglucosamine promote myogenesis and improve skeletal muscle function in the mdx model of Duchenne muscular dystrophy","volume":"32","author":"Rancourt","year":"2018","journal-title":"FASEB J."},{"key":"10.1016\/j.nmd.2024.03.003_bib0046","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.omtm.2019.01.004","article-title":"Human galectin-1 improves sarcolemma stability and muscle vascularization in the mdx mouse model of duchenne muscular dystrophy","volume":"13","author":"Wuebbles","year":"2019","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"10.1016\/j.nmd.2024.03.003_bib0047","doi-asserted-by":"crossref","first-page":"1702","DOI":"10.1002\/acn3.51667","article-title":"Mexiletine in spinal and bulbar muscular atrophy: a randomized controlled trial","volume":"9","author":"Yamada","year":"2022","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"10.1016\/j.nmd.2024.03.003_bib0048","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1002\/jcsm.13344","article-title":"Exercise attenuates polyglutamine-mediated neuromuscular degeneration in a mouse model of spinal and bulbar muscular atrophy","volume":"15","author":"Hirunagi","year":"2024","journal-title":"J. Cachexia Sarcopenia Muscle"},{"key":"10.1016\/j.nmd.2024.03.003_bib0049","article-title":"Clinical phenotyping and biomarkers in spinal and bulbar muscular atrophy","volume":"11","author":"Millere","year":"2020","journal-title":"Front. Neurol."},{"key":"10.1016\/j.nmd.2024.03.003_bib0050","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/(SICI)1097-4598(199903)22:3<299::AID-MUS2>3.0.CO;2-D","article-title":"Assessment of upper and lower motor neurons in Kennedy's disease: implications for corticomotoneuronal PSTH studies","volume":"22","author":"Weber","year":"1999","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2024.03.003_bib0051","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.nmd.2021.11.007","article-title":"Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene","volume":"32","author":"M\u00fcller","year":"2022","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.nmd.2024.03.003_bib0052","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/0022-510X(93)90157-T","article-title":"Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathy","volume":"117","author":"Sobue","year":"1993","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.nmd.2024.03.003_bib0053","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1136\/jnnp-2017-316961","article-title":"Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease","volume":"89","author":"Manzano","year":"2018","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.nmd.2024.03.003_bib0054","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1136\/jnnp-2015-311305","article-title":"Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients","volume":"87","author":"Querin","year":"2016","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.nmd.2024.03.003_bib0055","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1002\/ana.25345","article-title":"Disease progression and outcome measures in spinobulbar muscular atrophy","volume":"84","author":"Dahlqvist","year":"2018","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.nmd.2024.03.003_bib0056","doi-asserted-by":"crossref","first-page":"e548","DOI":"10.1212\/WNL.0000000000006887","article-title":"Refining the spinobulbar muscular atrophy phenotype by quantitative MRI and clinical assessments","volume":"92","author":"Dahlqvist","year":"2019","journal-title":"Neurology."},{"key":"10.1016\/j.nmd.2024.03.003_bib0057","doi-asserted-by":"crossref","first-page":"e895","DOI":"10.1212\/WNL.0000000000008009","article-title":"Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity","volume":"93","author":"Klickovic","year":"2019","journal-title":"Neurology."},{"key":"10.1016\/j.nmd.2024.03.003_bib0058","doi-asserted-by":"crossref","first-page":"e1205","DOI":"10.1212\/WNL.0000000000007097","article-title":"Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy","volume":"92","author":"Lombardi","year":"2019","journal-title":"Neurology."},{"key":"10.1016\/j.nmd.2024.03.003_bib0059","article-title":"Troponin T in spinal and bulbar muscular atrophy (SBMA)","volume":"456","author":"Musso","year":"2023","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.nmd.2024.03.003_bib0060","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1016\/j.clinph.2018.04.748","article-title":"Motor unit number estimation (MUNE): where are we now?","volume":"129","author":"de Carvalho","year":"2018","journal-title":"Clin. Neurophysiol."},{"key":"10.1016\/j.nmd.2024.03.003_bib0061","doi-asserted-by":"crossref","first-page":"1172","DOI":"10.1136\/jnnp-2015-310509","article-title":"Tracking motor neuron loss in a set of six muscles in amyotrophic lateral sclerosis using the Motor Unit Number Index (MUNIX): a 15-month longitudinal multicentre trial","volume":"86","author":"Neuwirth","year":"2015","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.nmd.2024.03.003_bib0062","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/S1567-424X(08)00006-8","article-title":"The CMAP scan","volume":"60","author":"Visser","year":"2009","journal-title":"Suppl. Clin. Neurophysiol."},{"key":"10.1016\/j.nmd.2024.03.003_bib0063","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.neucli.2021.11.002","article-title":"Assessing inter-rater reproducibility in MScanFit MUNE in a 6-subject, 12-rater \u201cRound Robin\u201d setup","volume":"52","author":"S\u00f8rensen","year":"2022","journal-title":"Neurophysiol. Clin."},{"key":"10.1016\/j.nmd.2024.03.003_bib0064","doi-asserted-by":"crossref","first-page":"1373","DOI":"10.1111\/j.1468-1331.2011.03646.x","article-title":"CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis: ALS is not associated with AR CAG repeats","volume":"19","author":"Bruson","year":"2012","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.nmd.2024.03.003_bib0065","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1186\/s13023-018-0918-z","article-title":"The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage","volume":"13","author":"Ambrosini","year":"2018","journal-title":"Orphanet. J. Rare Dis."},{"key":"10.1016\/j.nmd.2024.03.003_bib0066","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1186\/s13023-020-01366-z","article-title":"The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations","volume":"15","author":"Pradat","year":"2020","journal-title":"Orphanet. J. Rare Dis."},{"key":"10.1016\/j.nmd.2024.03.003_bib0067","doi-asserted-by":"crossref","first-page":"109","DOI":"10.3390\/genes13010109","article-title":"Nucleic acid-based therapeutic approach for spinal and bulbar muscular atrophy and related neurological disorders","volume":"13","author":"Hirunagi","year":"2022","journal-title":"Genes. (Basel)"},{"key":"10.1016\/j.nmd.2024.03.003_bib0068","doi-asserted-by":"crossref","first-page":"41046","DOI":"10.1038\/srep41046","article-title":"Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes","volume":"7","author":"Milioto","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.nmd.2024.03.003_bib0069","doi-asserted-by":"crossref","first-page":"2095","DOI":"10.1212\/WNL.0b013e318295d766","article-title":"Pilot trial of clenbuterol in spinal and bulbar muscular atrophy","volume":"80","author":"Querin","year":"2013","journal-title":"Neurology."},{"key":"10.1016\/j.nmd.2024.03.003_bib0070","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1002\/ana.26285","article-title":"Adaptive platform trials to transform amyotrophic lateral sclerosis therapy development","volume":"91","author":"Paganoni","year":"2022","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.nmd.2024.03.003_bib0071","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1136\/jnnp-2017-316015","article-title":"Long-term treatment with leuprorelin for spinal and bulbar muscular atrophy: natural history-controlled study","volume":"88","author":"Hashizume","year":"2017","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.nmd.2024.03.003_bib0072","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1016\/j.neuron.2009.07.019","article-title":"Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy","volume":"63","author":"Palazzolo","year":"2009","journal-title":"Neuron"},{"key":"10.1016\/j.nmd.2024.03.003_bib0073","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1016\/S1474-4422(18)30320-X","article-title":"Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial","volume":"17","author":"Grunseich","year":"2018","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.nmd.2024.03.003_bib0074","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1038\/mt.2016.13","article-title":"MiR-298 counteracts mutant androgen receptor toxicity in spinal and bulbar muscular atrophy","volume":"24","author":"Pourshafie","year":"2016","journal-title":"Mol. Ther."},{"key":"10.1016\/j.nmd.2024.03.003_bib0075","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1016\/j.celrep.2014.02.008","article-title":"Peripheral androgen receptor gene suppression rescues disease in mouse models of spinal and bulbar muscular atrophy","volume":"7","author":"Lieberman","year":"2014","journal-title":"Cell Rep."},{"key":"10.1016\/j.nmd.2024.03.003_bib0076","doi-asserted-by":"crossref","first-page":"5985","DOI":"10.1093\/hmg\/ddv300","article-title":"Silencing neuronal mutant androgen receptor in a mouse model of spinal and bulbar muscular atrophy","volume":"24","author":"Sahashi","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.nmd.2024.03.003_bib0077","doi-asserted-by":"crossref","first-page":"4680","DOI":"10.1038\/s41598-019-41240-y","article-title":"Muscle contractility in spinobulbar muscular atrophy","volume":"9","author":"Dahlqvist","year":"2019","journal-title":"Sci. Rep."},{"key":"10.1016\/j.nmd.2024.03.003_bib0078","doi-asserted-by":"crossref","first-page":"17311","DOI":"10.1038\/s41598-023-44419-6","article-title":"The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA)","volume":"13","author":"Blasi","year":"2023","journal-title":"Sci. Rep."},{"key":"10.1016\/j.nmd.2024.03.003_bib0079","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1016\/j.jval.2017.05.015","article-title":"Patient-reported outcome and observer-reported outcome assessment in rare disease clinical trials: an ISPOR COA emerging good practices task force report","volume":"20","author":"Benjamin","year":"2017","journal-title":"Value Health"},{"key":"10.1016\/j.nmd.2024.03.003_bib0080","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.1016\/j.clinph.2012.12.053","article-title":"Prominent fatigue in spinal muscular atrophy and spinal and bulbar muscular atrophy: evidence of activity-dependent conduction block","volume":"124","author":"Noto","year":"2013","journal-title":"Clin. Neurophysiol."}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896624000567?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896624000567?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:14:31Z","timestamp":1760775271000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896624000567"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":80,"alternative-id":["S0960896624000567"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2024.03.003","relation":{},"ISSN":["0960-8966"],"issn-type":[{"type":"print","value":"0960-8966"}],"subject":[],"published":{"date-parts":[[2024,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"271st ENMC international workshop: Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2024.03.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"name":"copyright","label":"Copyright"}]}}