يعرض 1 - 20 نتائج من 1,646 نتيجة بحث عن '"lambert-eaton myasthenic syndrome"', وقت الاستعلام: 0.61s تنقيح النتائج
  1. 1
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    المصدر: A Single Center Prospective Natural History and Outcome Measure Validation Study of Congenital Myasthenic Syndromes
    Brooks PJ, Ottinger EA, Portero D, Lomash RM, Alimardanov A, Terse P, Xu X, Chandler RJ, Geist Hauserman J, Esposito E, Bonnemann CG, Venditti CP, Austin CP, Pariser A, Lo DC. The Platform Vector Gene Therapies Project: Increasing the Efficiency of Adeno-Associated Virus Gene Therapy Clinical Trial Startup. Hum Gene Ther. 2020 Oct;31(19-20):1034-1042. doi: 10.1089/hum.2020.259. No abstract available.
    Nicole S, Azuma Y, Bauche S, Eymard B, Lochmuller H, Slater C. Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions. J Neuromuscul Dis. 2017;4(4):269-284. doi: 10.3233/JND-170257.
    Maggi L, Bernasconi P, D'Amico A, Brugnoni R, Fiorillo C, Garibaldi M, Astrea G, Bruno C, Santorelli FM, Liguori R, Antonini G, Evoli A, Bertini E, Rodolico C, Mantegazza R. Italian recommendations for diagnosis and management of congenital myasthenic syndromes. Neurol Sci. 2019 Mar;40(3):457-468. doi: 10.1007/s10072-018-3682-x. Epub 2018 Dec 15.
    Bergamin E, Hallock PT, Burden SJ, Hubbard SR. The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization. Mol Cell. 2010 Jul 9;39(1):100-9. doi: 10.1016/j.molcel.2010.06.007.
    Sigoillot SM, Bourgeois F, Lambergeon M, Strochlic L, Legay C. ColQ controls postsynaptic differentiation at the neuromuscular junction. J Neurosci. 2010 Jan 6;30(1):13-23. doi: 10.1523/JNEUROSCI.4374-09.2010.
    Hallock PT, Xu CF, Park TJ, Neubert TA, Curran T, Burden SJ. Dok-7 regulates neuromuscular synapse formation by recruiting Crk and Crk-L. Genes Dev. 2010 Nov 1;24(21):2451-61. doi: 10.1101/gad.1977710.
    Palace J, Lashley D, Newsom-Davis J, Cossins J, Maxwell S, Kennett R, Jayawant S, Yamanashi Y, Beeson D. Clinical features of the DOK7 neuromuscular junction synaptopathy. Brain. 2007 Jun;130(Pt 6):1507-15. doi: 10.1093/brain/awm072. Epub 2007 Apr 23.
    Lee M, Beeson D, Palace J. Therapeutic strategies for congenital myasthenic syndromes. Ann N Y Acad Sci. 2018 Jan;1412(1):129-136. doi: 10.1111/nyas.13538.
    McMacken GM, Spendiff S, Whittaker RG, O'Connor E, Howarth RM, Boczonadi V, Horvath R, Slater CR, Lochmuller H. Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome. Hum Mol Genet. 2019 Jul 15;28(14):2339-2351. doi: 10.1093/hmg/ddz059.
    James MA. Use of the Medical Research Council muscle strength grading system in the upper extremity. J Hand Surg Am. 2007 Feb;32(2):154-6. doi: 10.1016/j.jhsa.2006.11.008. No abstract available.
    Fernandez-Rhodes LE, Kokkinis AD, White MJ, Watts CA, Auh S, Jeffries NO, Shrader JA, Lehky TJ, Li L, Ryder JE, Levy EW, Solomon BI, Harris-Love MO, La Pean A, Schindler AB, Chen C, Di Prospero NA, Fischbeck KH. Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial. Lancet Neurol. 2011 Feb;10(2):140-7. doi: 10.1016/S1474-4422(10)70321-5. Epub 2011 Jan 6.
    Bortolani S, Brusa C, Rolle E, Monforte M, De Arcangelis V, Ricci E, Mongini TE, Tasca G. Technology outcome measures in neuromuscular disorders: A systematic review. Eur J Neurol. 2022 Apr;29(4):1266-1278. doi: 10.1111/ene.15235. Epub 2022 Jan 10.
    Bruggeman BS, Vincent HK, Chi X, Filipp SL, Mercado R, Modave F, Guo Y, Gurka MJ, Bernier A. Simple tests of cardiorespiratory fitness in a pediatric population. PLoS One. 2020 Sep 4;15(9):e0238863. doi: 10.1371/journal.pone.0238863. eCollection 2020.
    Servais L, Mercuri E, Straub V, Guglieri M, Seferian AM, Scoto M, Leone D, Koenig E, Khan N, Dugar A, Wang X, Han B, Wang D, Muntoni F; SKIP-NMD Study Group. Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial. Nucleic Acid Ther. 2022 Feb;32(1):29-39. doi: 10.1089/nat.2021.0043. Epub 2021 Nov 17.
    de Lattre C, Payan C, Vuillerot C, Rippert P, de Castro D, Berard C, Poirot I; MFM-20 Study Group. Motor function measure: validation of a short form for young children with neuromuscular diseases. Arch Phys Med Rehabil. 2013 Nov;94(11):2218-26. doi: 10.1016/j.apmr.2013.04.001. Epub 2013 Apr 18.
    Berard C, Payan C, Hodgkinson I, Fermanian J; MFM Collaborative Study Group. A motor function measure for neuromuscular diseases. Construction and validation study. Neuromuscul Disord. 2005 Jul;15(7):463-70. doi: 10.1016/j.nmd.2005.03.004.
    Tindall RS, Rollins JA, Phillips JT, Greenlee RG, Wells L, Belendiuk G. Preliminary results of a double-blind, randomized, placebo-controlled trial of cyclosporine in myasthenia gravis. N Engl J Med. 1987 Mar 19;316(12):719-24. doi: 10.1056/NEJM198703193161205.
    Barohn RJ, McIntire D, Herbelin L, Wolfe GI, Nations S, Bryan WW. Reliability testing of the quantitative myasthenia gravis score. Ann N Y Acad Sci. 1998 May 13;841:769-72. doi: 10.1111/j.1749-6632.1998.tb11015.x. No abstract available.
    Griffiths A, Toovey R, Morgan PE, Spittle AJ. Psychometric properties of gross motor assessment tools for children: a systematic review. BMJ Open. 2018 Oct 27;8(10):e021734. doi: 10.1136/bmjopen-2018-021734.
    Richardson C, Smith T, Schaefer A, Turnbull D, Griffiths P. Ocular motility findings in chronic progressive external ophthalmoplegia. Eye (Lond). 2005 Mar;19(3):258-63. doi: 10.1038/sj.eye.6701488.
    Chiang J, Mehta K, Amin R. Respiratory Diagnostic Tools in Neuromuscular Disease. Children (Basel). 2018 Jun 15;5(6):78. doi: 10.3390/children5060078.
    Della Marina A, Wibbeler E, Abicht A, Kolbel H, Lochmuller H, Roos A, Schara U. Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes-A Retrospective Single Centre Cohort Study. Front Hum Neurosci. 2020 Dec 7;14:560860. doi: 10.3389/fnhum.2020.560860. eCollection 2020.
    Prior DE, Cooper BA, Zhang B, Ghosh PS. Developing outcome measures of disease activity in pediatric myasthenia. Muscle Nerve. 2021 May;63(5):751-757. doi: 10.1002/mus.27208. Epub 2021 Feb 28.
    Cella D, Choi SW, Condon DM, Schalet B, Hays RD, Rothrock NE, Yount S, Cook KF, Gershon RC, Amtmann D, DeWalt DA, Pilkonis PA, Stone AA, Weinfurt K, Reeve BB. PROMIS(R) Adult Health Profiles: Efficient Short-Form Measures of Seven Health Domains. Value Health. 2019 May;22(5):537-544. doi: 10.1016/j.jval.2019.02.004.
    Cox ED, Connolly JR, Palta M, Rajamanickam VP, Flynn KE. Reliability and validity of PROMIS(R) pediatric family relationships short form in children 8-17 years of age with chronic disease. Qual Life Res. 2020 Jan;29(1):191-199. doi: 10.1007/s11136-019-02266-x. Epub 2019 Aug 10.
    Varni JW, Thissen D, Stucky BD, Liu Y, Magnus B, Quinn H, Irwin DE, DeWitt EM, Lai JS, Amtmann D, Gross HE, DeWalt DA. PROMIS(R) Parent Proxy Report Scales for children ages 5-7 years: an item response theory analysis of differential item functioning across age groups. Qual Life Res. 2014 Feb;23(1):349-61. doi: 10.1007/s11136-013-0439-0. Epub 2013 Jun 6.
    Finlayson S, Morrow JM, Rodriguez Cruz PM, Sinclair CD, Fischmann A, Thornton JS, Knight S, Norbury R, White M, Al-Hajjar M, Carboni N, Jayawant S, Robb SA, Yousry TA, Beeson D, Palace J. Muscle magnetic resonance imaging in congenital myasthenic syndromes. Muscle Nerve. 2016 Aug;54(2):211-9. doi: 10.1002/mus.25035. Epub 2016 Feb 22.
    Ramdas S, Beeson D. Congenital myasthenic syndromes: where do we go from here? Neuromuscul Disord. 2021 Oct;31(10):943-954. doi: 10.1016/j.nmd.2021.07.400.
    Benatar M, Sanders DB, Burns TM, Cutter GR, Guptill JT, Baggi F, Kaminski HJ, Mantegazza R, Meriggioli MN, Quan J, Wolfe GI; Task Force on MG Study Design of the Medical Scientific Advisory Board of the Myasthenia Gravis Foundation of America. Recommendations for myasthenia gravis clinical trials. Muscle Nerve. 2012 Jun;45(6):909-17. doi: 10.1002/mus.23330.
    Troha Gergeli A, Neubauer D, Golli T, Butenko T, Loboda T, Maver A, Osredkar D. Prevalence and genetic subtypes of congenital myasthenic syndromes in the pediatric population of Slovenia. Eur J Paediatr Neurol. 2020 May;26:34-38. doi: 10.1016/j.ejpn.2020.02.002. Epub 2020 Feb 11.
    Pane M, Coratti G, Brogna C, Mazzone ES, Mayhew A, Fanelli L, Messina S, D'Amico A, Catteruccia M, Scutifero M, Frosini S, Lanzillotta V, Colia G, Cavallaro F, Rolle E, De Sanctis R, Forcina N, Petillo R, Barp A, Gardani A, Pini A, Monaco G, D'Angelo MG, Zanin R, Vita GL, Bruno C, Mongini T, Ricci F, Pegoraro E, Bello L, Berardinelli A, Battini R, Sansone V, Albamonte E, Baranello G, Bertini E, Politano L, Sormani MP, Mercuri E. Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data. PLoS One. 2018 Jun 20;13(6):e0199223. doi: 10.1371/journal.pone.0199223. eCollection 2018.
    Mayhew AG, Coratti G, Mazzone ES, Klingels K, James M, Pane M, Straub V, Goemans N, Mercuri E; Pul Working Group. Performance of Upper Limb module for Duchenne muscular dystrophy. Dev Med Child Neurol. 2020 May;62(5):633-639. doi: 10.1111/dmcn.14361. Epub 2019 Sep 19.
    Pierzchlewicz K, Kepa I, Podogrodzki J, Kotulska K. Spinal Muscular Atrophy: The Use of Functional Motor Scales in the Era of Disease-Modifying Treatment. Child Neurol Open. 2021 Apr 27;8:2329048X211008725. doi: 10.1177/2329048X211008725. eCollection 2021 Jan-Dec.
    Burns TM, Sadjadi R, Utsugisawa K, Gwathmey KG, Joshi A, Jones S, Bril V, Barnett C, Guptill JT, Sanders DB, Hobson-Webb L, Juel VC, Massey J, Gable KL, Silvestri NJ, Wolfe G, Cutter G, Nagane Y, Murai H, Masuda M, Farrugia ME, Carmichael C, Birnbaum S, Hogrel JY, Nafissi S, Fatehi F, Ou C, Liu W, Conaway M. International clinimetric evaluation of the MG-QOL15, resulting in slight revision and subsequent validation of the MG-QOL15r. Muscle Nerve. 2016 Dec;54(6):1015-1022. doi: 10.1002/mus.25198. Epub 2016 Nov 7.
    Wolfe GI, Herbelin L, Nations SP, Foster B, Bryan WW, Barohn RJ. Myasthenia gravis activities of daily living profile. Neurology. 1999 Apr 22;52(7):1487-9. doi: 10.1212/wnl.52.7.1487.
    Ousmen A, Touraine C, Deliu N, Cottone F, Bonnetain F, Efficace F, Bredart A, Mollevi C, Anota A. Distribution- and anchor-based methods to determine the minimally important difference on patient-reported outcome questionnaires in oncology: a structured review. Health Qual Life Outcomes. 2018 Dec 11;16(1):228. doi: 10.1186/s12955-018-1055-z.
    Cornett KMD, Menezes MP, Bray P, Shy RR, Moroni I, Pagliano E, Pareyson D, Estilow T, Yum SW, Bhandari T, Muntoni F, Laura M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Shy ME, Burns J; CMTPedS Study Group. Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS. Ann Clin Transl Neurol. 2020 Sep;7(9):1713-1715. doi: 10.1002/acn3.51145. Epub 2020 Aug 6.

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    المساهمون: Vern C. Juel, M.D., Professor of Neurology

    المصدر: Treatment Use of 3,4-Diaminopyridine in Congenital Myasthenic Syndrome
    Sanders DB, Juel VC, Harati Y, Smith AG, Peltier AC, Marburger T, Lou JS, Pascuzzi RM, Richman DP, Xie T, Demmel V, Jacobus LR, Ales KL, Jacobus DP; Dapper Study Team. 3,4-diaminopyridine base effectively treats the weakness of Lambert-Eaton myasthenia. Muscle Nerve. 2018 Apr;57(4):561-568. doi: 10.1002/mus.26052. Epub 2018 Feb 2.

  3. 3
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    المصدر: A Phase 1b, Double-Blinded, Randomized, Placebo-Controlled Study to Assess the Safety, Tolerability, Pharmacokinetics, Immunogenicity, and Efficacy of ARGX-119 in Adult Participants with DOK7-Congenital Myasthenic Syndromes

  4. 4
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    المؤلفون: Medical Park AG

    المساهمون: Marko Mijic, Scientific Worker (dr. rer. biol. hum.)

    المصدر: Development and Validation of the FBIndex to Determine the Risk of Falls for Patients with Neuromuscular Disorders
    Podsiadlo D, Richardson S. The timed "Up & Go": a test of basic functional mobility for frail elderly persons. J Am Geriatr Soc. 1991 Feb;39(2):142-8. doi: 10.1111/j.1532-5415.1991.tb01616.x.
    Dias N, Kempen GI, Todd CJ, Beyer N, Freiberger E, Piot-Ziegler C, Yardley L, Hauer K. [The German version of the Falls Efficacy Scale-International Version (FES-I)]. Z Gerontol Geriatr. 2006 Aug;39(4):297-300. doi: 10.1007/s00391-006-0400-8. German.
    Yardley L, Beyer N, Hauer K, Kempen G, Piot-Ziegler C, Todd C. Development and initial validation of the Falls Efficacy Scale-International (FES-I). Age Ageing. 2005 Nov;34(6):614-9. doi: 10.1093/ageing/afi196.
    DiPaolo G, Jimenez-Moreno C, Nikolenko N, Atalaia A, Monckton DG, Guglieri M, Lochmuller H. Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA). J Neurol. 2017 Apr;264(4):701-708. doi: 10.1007/s00415-017-8399-x. Epub 2017 Feb 6.
    Murphy SM, Herrmann DN, McDermott MP, Scherer SS, Shy ME, Reilly MM, Pareyson D. Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2011 Sep;16(3):191-8. doi: 10.1111/j.1529-8027.2011.00350.x.
    Runge M, Hunter G. Determinants of musculoskeletal frailty and the risk of falls in old age. J Musculoskelet Neuronal Interact. 2006 Apr-Jun;6(2):167-73.
    Dharmadasa T, Matamala JM, Huynh W, Zoing MC, Kiernan MC. Motor neurone disease. Handb Clin Neurol. 2018;159:345-357. doi: 10.1016/B978-0-444-63916-5.00022-7.

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    المصدر: Multicenter, Multinational, Natural History Study in Participants With DOK7 Congenital Myasthenic Syndromes

  6. 6
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    المصدر: High-Dose Immunosuppressive Therapy Using Carmustine, Etoposide, Cytarabine, and Melphalan (BEAM) + Thymoglobulin Followed by Syngeneic or Autologous Hematopoietic Cell Transplantation for Patients With Autoimmune Neurologic Diseases

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    Academic Journal
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    Academic Journal
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    المساهمون: Dr. med. Marc Günter Pawlitzki, Senior Physician

    المصدر: Patient Observation With Environmental and Wearable Sensors in Myasthenia Gravis

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    المساهمون: Laurent Servais, Professor

    المصدر: Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect

  11. 11
    Academic Journal
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    Academic Journal
  13. 13
    Academic Journal
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    المصدر: Follow-up of a Cohort of Patients With Myasthenic Syndrome and COVID-19 Infection: Consequences on the Severity of Myasthenic Syndrome and Reciprocal Impact of the Two Pathologies on Their Respective Treatments

  15. 15
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    المصدر: An Open-Label, Expanded Access Protocol for Firdapse® (Amifampridine Phosphate; 3,4-Diaminopyridine Phosphate) Treatment in Pediatric Patients With Lambert-Eaton Myasthenic Syndrome (LEMS), and in Pediatric and Adult Patients With Congenital Myasthenic Syndromes (CMSs)

  16. 16
    Academic Journal
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    Academic Journal
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    المؤلفون: Catalyst Pharmaceuticals, Inc.

    المساهمون: Ricardo Maselli, Professor

    المصدر: Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia

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    Academic Journal