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Journal Abstract Search

228 related items for PubMed ID: 33482890

  • 1. A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia.
    Fields T, Patterson M, Bremova-Ertl T, Belcher G, Billington I, Churchill GC, Davis W, Evans W, Flint S, Galione A, Granzer U, Greenfield J, Karl R, Kay R, Lewi D, Mathieson T, Meyer T, Pangonis D, Platt FM, Tsang L, Verburg C, Factor M, Strupp M.
    Trials; 2021 Jan 22; 22(1):84. PubMed ID: 33482890
    [Abstract] [Full Text] [Related]

  • 2. Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses.
    Martakis K, Claassen J, Gascon-Bayari J, Goldschagg N, Hahn A, Hassan A, Hennig A, Jones S, Kay R, Lau H, Perlman S, Sharma R, Schneider S, Bremova-Ertl T.
    Neurology; 2023 Mar 07; 100(10):e1072-e1083. PubMed ID: 36456200
    [Abstract] [Full Text] [Related]

  • 3. N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study.
    Fields T, M Bremova T, Billington I, Churchill GC, Evans W, Fields C, Galione A, Kay R, Mathieson T, Martakis K, Patterson M, Platt F, Factor M, Strupp M.
    Trials; 2023 May 29; 24(1):361. PubMed ID: 37248494
    [Abstract] [Full Text] [Related]

  • 4. Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses.
    Kissell J, Rochmann C, Minini P, Eichler F, Stephen CD, Lau H, Toro C, Johnston JM, Krupnick R, Hamed A, Cox GF.
    Mol Genet Metab; 2024 Jul 29; 142(3):108512. PubMed ID: 38870773
    [Abstract] [Full Text] [Related]

  • 5. Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C.
    Bremova-Ertl T, Claassen J, Foltan T, Gascon-Bayarri J, Gissen P, Hahn A, Hassan A, Hennig A, Jones SA, Kolnikova M, Martakis K, Raethjen J, Ramaswami U, Sharma R, Schneider SA.
    J Neurol; 2022 Mar 29; 269(3):1651-1662. PubMed ID: 34387740
    [Abstract] [Full Text] [Related]

  • 6. Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.
    Park J, Bremova-Ertl T, Brands M, Foltan T, Gautschi M, Gissen P, Hahn A, Jones S, Arash-Kaps L, Kolnikova M, Patterson M, Perlman S, Ramaswami U, Reichmannová S, Rohrbach M, Schneider SA, Shaikh A, Sivananthan S, Synofzik M, Walterfarng M, Wibawa P, Martakis K, Manto M.
    J Neurol; 2024 Oct 29; 271(10):6888-6902. PubMed ID: 39225743
    [Abstract] [Full Text] [Related]

  • 7. Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial.
    Feil K, Adrion C, Teufel J, Bösch S, Claassen J, Giordano I, Hengel H, Jacobi H, Klockgether T, Klopstock T, Nachbauer W, Schöls L, Stendel C, Uslar E, van de Warrenburg B, Berger I, Naumann I, Bayer O, Müller HH, Mansmann U, Strupp M.
    BMC Neurol; 2017 Jan 10; 17(1):7. PubMed ID: 28068987
    [Abstract] [Full Text] [Related]

  • 8. Acetyl-leucine slows disease progression in lysosomal storage disorders.
    Kaya E, Smith DA, Smith C, Morris L, Bremova-Ertl T, Cortina-Borja M, Fineran P, Morten KJ, Poulton J, Boland B, Spencer J, Strupp M, Platt FM.
    Brain Commun; 2021 Jan 10; 3(1):fcaa148. PubMed ID: 33738443
    [Abstract] [Full Text] [Related]

  • 9. Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset.
    Kern J, Böhringer J, Timmann D, Trollmann R, Stendel C, Kamm C, Röbl M, Santhanakumaran V, Groeschel S, Beck-Wödl S, Göricke S, Krägeloh-Mann I, Synofzik M.
    Neurology; 2024 Jan 09; 102(1):e207898. PubMed ID: 38165373
    [Abstract] [Full Text] [Related]

  • 10. [Molecular pathogenesis and therapeutic approach of GM2 gangliosidosis].
    Tsuji D.
    Yakugaku Zasshi; 2013 Jan 09; 133(2):269-74. PubMed ID: 23370522
    [Abstract] [Full Text] [Related]

  • 11. Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases.
    Lyn N, Pulikottil-Jacob R, Rochmann C, Krupnick R, Gwaltney C, Stephens N, Kissell J, Cox GF, Fischer T, Hamed A.
    Orphanet J Rare Dis; 2020 Apr 15; 15(1):92. PubMed ID: 32295606
    [Abstract] [Full Text] [Related]

  • 12. Efficacy and safety of N-acetyl-L-leucine in patients with ataxia telangiectasia: A randomized, double-blind, placebo-controlled, crossover clinical trial.
    Beyraghi-Tousi M, Sahebkar A, Houra M, Sarvghadi P, Jamialahmadi T, Bagheri R, Tavallaie S, Gumpricht E, Saberi-Karimian M.
    Eur J Paediatr Neurol; 2024 May 15; 50():57-63. PubMed ID: 38669738
    [Abstract] [Full Text] [Related]

  • 13. Diagnosing Lysosomal Storage Disorders: The GM2 Gangliosidoses.
    Hall P, Minnich S, Teigen C, Raymond K.
    Curr Protoc Hum Genet; 2014 Oct 01; 83():17.16.1-8. PubMed ID: 25271840
    [Abstract] [Full Text] [Related]

  • 14. An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants).
    Clarke JT, Mahuran DJ, Sathe S, Kolodny EH, Rigat BA, Raiman JA, Tropak MB.
    Mol Genet Metab; 2011 Jan 01; 102(1):6-12. PubMed ID: 20926324
    [Abstract] [Full Text] [Related]

  • 15. The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.
    Maegawa GH, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, Giugliani R, Mahuran D, Clarke JT.
    Pediatrics; 2006 Nov 01; 118(5):e1550-62. PubMed ID: 17015493
    [Abstract] [Full Text] [Related]

  • 16. Infantile gangliosidoses: Mapping a timeline of clinical changes.
    Jarnes Utz JR, Kim S, King K, Ziegler R, Schema L, Redtree ES, Whitley CB.
    Mol Genet Metab; 2017 Jun 01; 121(2):170-179. PubMed ID: 28476546
    [Abstract] [Full Text] [Related]

  • 17. Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study.
    Nestrasil I, Ahmed A, Utz JM, Rudser K, Whitley CB, Jarnes-Utz JR.
    Mol Genet Metab; 2018 Feb 01; 123(2):97-104. PubMed ID: 29352662
    [Abstract] [Full Text] [Related]

  • 18. Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.
    Crider K, Williams J, Qi YP, Gutman J, Yeung L, Mai C, Finkelstain J, Mehta S, Pons-Duran C, Menéndez C, Moraleda C, Rogers L, Daniels K, Green P.
    Cochrane Database Syst Rev; 2022 Feb 01; 2(2022):. PubMed ID: 36321557
    [Abstract] [Full Text] [Related]

  • 19. Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
    Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannová S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K.
    N Engl J Med; 2024 Feb 01; 390(5):421-431. PubMed ID: 38294974
    [Abstract] [Full Text] [Related]

  • 20. Natural history study of glycan accumulation in large animal models of GM2 gangliosidoses.
    Cavender C, Mangini L, Van Vleet JL, Corado C, McCullagh E, Gray-Edwards HL, Martin DR, Crawford BE, Lawrence R.
    PLoS One; 2020 Feb 01; 15(12):e0243006. PubMed ID: 33259552
    [Abstract] [Full Text] [Related]

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