Hugo Moser

Summary

Affiliation: Kennedy Krieger Institute
Country: USA

Publications

  1. ncbi request reprint Molecular genetics of peroxisomal disorders
    H W Moser
    Johns Hopkins University, Kennedy Krieger Institute, 707 North Broadway, Baltimore, MD 21205, USA
    Front Biosci 5:D298-306. 2000
  2. pmc Therapy of X-linked adrenoleukodystrophy
    Hugo W Moser
    Kennedy Krieger Institute, Johns Hopkins University, 707 North Broadway, Baltimore, MD 21205, USA
    NeuroRx 3:246-53. 2006
  3. ncbi request reprint Adrenoleukodystrophy: new approaches to a neurodegenerative disease
    Hugo W Moser
    Author Affliations Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA
    JAMA 294:3131-4. 2005
  4. ncbi request reprint Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil
    Hugo W Moser
    Kennedy Krieger Institute, Baltimore, MD 21205, USA
    Arch Neurol 62:1073-80. 2005
  5. ncbi request reprint Genetic causes of mental retardation
    Hugo W Moser
    Neurogenetics Research Center, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, 707 North Broadway, Baltimore, MD 21205, USA
    Ann N Y Acad Sci 1038:44-8. 2004
  6. ncbi request reprint Evaluation of therapy of X-linked adrenoleukodystrophy
    Hugo W Moser
    Division of Neurogenetics, Kennedy Krieger Institute, Departments of Neurology, Johns Hopkins University, USA
    Neurochem Res 29:1003-16. 2004
  7. ncbi request reprint Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trials
    Hugo W Moser
    Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University, Baltimore, MD, USA
    Adv Exp Med Biol 544:369-87. 2003
  8. ncbi request reprint Therapy of X-linked adrenoleukodystrophy: prognosis based upon age and MRI abnormality and plans for placebo-controlled trials
    H W Moser
    Kennedy Krieger Institute and the Department of Neurology at Johns Hopkins University, Baltimore, MD 21205, USA
    J Inherit Metab Dis 23:273-7. 2000
  9. ncbi request reprint Progress in X-linked adrenoleukodystrophy
    Hugo Moser
    Kennedy Krieger Institute, Baltimore, USA
    Curr Opin Neurol 17:263-9. 2004
  10. ncbi request reprint Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings
    Walter C Hubbard
    Division of Clinical Pharmacology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Osler 527, Baltimore, MD 21287, USA
    Mol Genet Metab 89:185-7. 2006

Collaborators

Detail Information

Publications40

  1. ncbi request reprint Molecular genetics of peroxisomal disorders
    H W Moser
    Johns Hopkins University, Kennedy Krieger Institute, 707 North Broadway, Baltimore, MD 21205, USA
    Front Biosci 5:D298-306. 2000
    ..The identification of the molecular defects and the development of animal models have increased understanding of pathogenetic mechanisms, and have led to novel therapeutic approaches...
  2. pmc Therapy of X-linked adrenoleukodystrophy
    Hugo W Moser
    Kennedy Krieger Institute, Johns Hopkins University, 707 North Broadway, Baltimore, MD 21205, USA
    NeuroRx 3:246-53. 2006
    ..Application of these interventions requires careful assessment of the patients' phenotype, which often changes over time. Family screening provides important opportunities for disease prevention...
  3. ncbi request reprint Adrenoleukodystrophy: new approaches to a neurodegenerative disease
    Hugo W Moser
    Author Affliations Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA
    JAMA 294:3131-4. 2005
    ..Neonatal screening is likely to become available, and a wider awareness of X-ALD and its various modes of presentation permit new proactive approaches to this distressing disorder...
  4. ncbi request reprint Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil
    Hugo W Moser
    Kennedy Krieger Institute, Baltimore, MD 21205, USA
    Arch Neurol 62:1073-80. 2005
    ..To identify asymptomatic boys with X-linked adrenoleukodystrophy who have a normal magnetic resonance image (MRI), and to assess the effect of 4:1 glyceryl trioleate-glyceryl trierucate (Lorenzo's oil) on disease progression...
  5. ncbi request reprint Genetic causes of mental retardation
    Hugo W Moser
    Neurogenetics Research Center, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, 707 North Broadway, Baltimore, MD 21205, USA
    Ann N Y Acad Sci 1038:44-8. 2004
    ..We must gain a better understanding of structure/function relationships, which becomes more and more possible with neuroimaging. A better understanding of neural plasticity can lead to correction by early intervention...
  6. ncbi request reprint Evaluation of therapy of X-linked adrenoleukodystrophy
    Hugo W Moser
    Division of Neurogenetics, Kennedy Krieger Institute, Departments of Neurology, Johns Hopkins University, USA
    Neurochem Res 29:1003-16. 2004
  7. ncbi request reprint Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trials
    Hugo W Moser
    Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University, Baltimore, MD, USA
    Adv Exp Med Biol 544:369-87. 2003
  8. ncbi request reprint Therapy of X-linked adrenoleukodystrophy: prognosis based upon age and MRI abnormality and plans for placebo-controlled trials
    H W Moser
    Kennedy Krieger Institute and the Department of Neurology at Johns Hopkins University, Baltimore, MD 21205, USA
    J Inherit Metab Dis 23:273-7. 2000
    ..2) We present plans for the development of a placebo-controlled multicentre international study that will have sufficient biostatistical power to provide objective evaluation of new therapeutic interventions...
  9. ncbi request reprint Progress in X-linked adrenoleukodystrophy
    Hugo Moser
    Kennedy Krieger Institute, Baltimore, USA
    Curr Opin Neurol 17:263-9. 2004
    ..The purpose of this article is to review and evaluate the new information about X-linked adrenoleukodystrophy that has been reported in 2002 and 2003...
  10. ncbi request reprint Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings
    Walter C Hubbard
    Division of Clinical Pharmacology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Osler 527, Baltimore, MD 21287, USA
    Mol Genet Metab 89:185-7. 2006
    ..There was no overlap between normal subjects versus affected subjects...
  11. ncbi request reprint The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum
    Steven Steinberg
    Peroxisomal Diseases Laboratory, Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University, Baltimore, MD, USA
    Mol Genet Metab 83:252-63. 2004
    ..This systematic, hierarchical approach to mutation identification is therefore a valuable tool to identify rapidly the molecular etiology of suspected PBD-ZSS disorders...
  12. ncbi request reprint Progressive cavitating leukoencephalopathy: a novel childhood disease
    Sakkubai Naidu
    Neurogenetics Department, Kennedy Krieger Institute and the Johns Hopkins Medical Institutions, 707 N Broadway, 5th Floor Tower, Baltimore, MD 21205, USA
    Ann Neurol 58:929-38. 2005
    ..Pathological studies show severe loss of myelin sparing U-fibers, axonal disruption, and cavitary lesions without inflammation. Familial occurrence and consanguinity suggest autosomal recessive inheritance of this distinct entity...
  13. ncbi request reprint Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
    Nancy Braverman
    McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Hum Mutat 20:284-97. 2002
    ..We find that residual activity of mutant Pex7p and reduced amounts of normal Pex7p are associated with milder and variant phenotypes...
  14. pmc Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders
    Deyanira Corzo
    Division of Genetics, The Children s Hospital, Boston, Massachusetts, USA
    Am J Hum Genet 70:1520-31. 2002
    ..The three patients with CADDS who are described here have important implications for genetic counseling, because individuals with CADDS may previously have been misdiagnosed as having an autosomal recessive PBD or SED..
  15. ncbi request reprint Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex
    Satomi Furuki
    Department of Biology, Faculty of Sciences, Kyushu University Graduate School, Fukuoka 812 8581, Japan
    J Biol Chem 281:1317-23. 2006
    ..Furthermore, we present several lines of evidence that show that the instability, insufficient binding to Pex1p x Pex6p complexes, or mislocalization of patient-derived Pex26p mutants is most likely responsible for the CG8 PBDs...
  16. ncbi request reprint X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes
    Asif Mahmood
    Department of Neurology and Pediatrics, Neurogenetics Division, Johns Hopkins University, Kennedy Krieger Institute, Baltimore, MD 21205, USA
    Pediatr Transplant 9:55-62. 2005
    ..The rationale for neonatal screening and the profound effect that such screening would have on the therapy of X-ALD, including the role of HCT, are discussed...
  17. ncbi request reprint Peroxisome biogenesis disorders
    Steven J Steinberg
    Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Biochim Biophys Acta 1763:1733-48. 2006
    ..Studies of the cellular and molecular defects in PBD patients have contributed significantly to our understanding of the role of each PEX gene in peroxisome assembly...
  18. ncbi request reprint X-linked adrenoleukodystrophy
    Hugo W Moser
    Neurogenetics Research Center, Kennedy Krieger Institute, 707 North Broadway, Baltimore, MD 21205, USA
    Nat Clin Pract Neurol 3:140-51. 2007
    ..A promising new method for mass newborn screening has been developed, the implementation of which will have a profound effect on the diagnosis and therapy of X-ALD...
  19. ncbi request reprint "Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy
    Hugo W Moser
    Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA
    J Mol Neurosci 33:105-13. 2007
    ..We also present current efforts to provide definitive evaluation of its clinical efficacy and discuss its possible role in the new therapeutic opportunities that will arise if newborn screening for X-ALD is validated and implemented...
  20. pmc Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation
    Naomi Matsumoto
    Department of Biology, Faculty of Sciences, Kyushu University Graduate School, Fukuoka, Japan
    Am J Hum Genet 73:233-46. 2003
    ..These findings confirm that the degree of temperature sensitivity in pex26 cell lines is predictive of the clinical phenotype in patients with PEX26 deficiency...
  21. pmc Auditory function in adrenomyeloneuropathy
    Joseph P Pillion
    Kennedy Krieger Institute, United States
    J Neurol Sci 269:24-9. 2008
    ..Word recognition in quiet was relatively unimpaired for all subjects. Despite the presence of marked ABR abnormalities, patients with AMN denied the presence of significant difficulty hearing...
  22. ncbi request reprint Cognitive evaluation of neurologically asymptomatic boys with X-linked adrenoleukodystrophy
    Christiane S Cox
    Kennedy Krieger Institute, The Johns Hopkins University, Baltimore, MD 21205, USA
    Arch Neurol 63:69-73. 2006
    ..Not much is known about the cognitive function of neurologically asymptomatic boys with X-linked adrenoleukodystrophy who have normal brain magnetic resonance imaging results...
  23. ncbi request reprint Sensorimotor function and axonal integrity in adrenomyeloneuropathy
    Kathleen M Zackowski
    Kennedy Krieger Institute, The Johns Hopkins University Baltimore, MD 21205, USA
    Arch Neurol 63:74-80. 2006
    ..Gait abnormalities and sensorimotor disturbances are principal defects in adrenomyeloneuropathy (AMN). However, to our knowledge, their association with overall impairment and neuroanatomical changes has not been defined...
  24. ncbi request reprint Imaging cortical association tracts in the human brain using diffusion-tensor-based axonal tracking
    Susumu Mori
    Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Magn Reson Med 47:215-23. 2002
    ..As a first illustration of this technical capability, a reduction in brain connectivity in a patient with a childhood neurodegenerative disease (X-linked adrenoleukodystrophy) was demonstrated...
  25. ncbi request reprint Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophy
    Florian Eichler
    Department of Neurology, Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA
    Arch Neurol 64:659-64. 2007
    ..An inherited disorder, X-linked adrenoleukodystrophy (X-ALD) is known to cause progressive inflammatory demyelination...
  26. ncbi request reprint New insights about hematopoietic stem cell transplantation in adrenoleukodystrophy
    Hugo W Moser
    Arch Neurol 64:631-2. 2007
  27. ncbi request reprint Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study
    Asif Mahmood
    Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University, Baltimore, MD, USA
    Lancet Neurol 6:687-92. 2007
    ..We analysed survival of CCALD patients who had not received HCT and, in a subgroup with early cerebral disease, compared survival in those who underwent HCT with those who did not...
  28. ncbi request reprint Adreno-leukodystrophy: oxidative stress of mice and men
    James M Powers
    Department of Pathology, University of Rochester Medical Center, Rochester, New York, USA
    J Neuropathol Exp Neurol 64:1067-79. 2005
    ..These differences between the adreno-leukodystrophy mouse and human patients are intriguing and may provide a clue to the phenotypic divergence in this disease...
  29. ncbi request reprint Diffusion tensor-based imaging reveals occult abnormalities in adrenomyeloneuropathy
    Prachi Dubey
    Department of Neurogenetics and Functional Magnetic Resonance Imaging Kirby Center, Kennedy Krieger Institute, Baltimore, MD 21205, USA
    Ann Neurol 58:758-66. 2005
    ..Accompanying abnormalities in genu of corpus callosum indicate that the disease pathology in pure AMN may not be limited to spinal cord long tracts alone, although the involvement of the latter is most prominent and severe...
  30. ncbi request reprint Anti-ganglioside antibodies bind with enhanced affinity to gangliosides containing very long chain fatty acids
    Yumi Tagawa
    Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Neurochem Res 27:847-55. 2002
    ..These data support the hypothesis that gangliosides bearing very long chain fatty acids are differentially displayed on membranes, which may lead to altered antigenicity...
  31. ncbi request reprint Proton MR spectroscopic imaging in Pelizaeus-Merzbacher disease
    Francesca Pizzini
    Kennedy Krieger Institute, Baltimore, MD, USA
    AJNR Am J Neuroradiol 24:1683-9. 2003
    ..The current study was conducted to characterize the results of proton MR spectroscopic (MRS) imaging in PMD...
  32. ncbi request reprint Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999
    Charles Peters
    Department of Pediatrics, University of Minnesota, Minneapolis, USA
    Blood 104:881-8. 2004
    ..In this first comprehensive report of the international HCT experience for X-ALD, we conclude that boys with early-stage disease benefit from HCT, whereas boys with advanced disease may be candidates for experimental therapies...
  33. ncbi request reprint Brain glucose metabolism in Rett Syndrome
    Patricia M Villemagne
    Department of Radiology, Johns Hopkins Medical Institutions, Baltimore, Maryland 21287 0807, USA
    Pediatr Neurol 27:117-22. 2002
    ..This pattern differs from those described in Down syndrome, autism, and Alzheimer's disease...
  34. ncbi request reprint Inhibition of peroxisomal functions due to oxidative imbalance induced by mistargeting of catalase to cytoplasm is restored by vitamin E treatment in skin fibroblasts from Zellweger syndrome-like patients
    Yasusada Kawada
    Department of Pediatrics, University of Occupational and Environmental Health, Kitakyushu, Japan
    Mol Genet Metab 83:297-305. 2004
    ..These findings open a novel approach for therapeutic treatment of certain peroxisomal disorders where gene or hypothermic therapies are not an option...
  35. ncbi request reprint Magnetic resonance spectroscopy: a new guide for the therapy of adrenoleukodystrophy
    Hugo W Moser
    Neurology 64:406-7. 2005
  36. ncbi request reprint Alexander disease: combined gene analysis and MRI clarify pathogenesis and extend phenotype
    Hugo W Moser
    Ann Neurol 57:307-8. 2005
  37. ncbi request reprint Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening
    Prachi Dubey
    Division of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins University, 707 North Broadway, Baltimore, MD 21205, USA
    J Pediatr 146:528-32. 2005
    ..We evaluated the burden of undiagnosed adrenal insufficiency in 49 such patients (age, 4.5 +/- 3.5 years)...
  38. ncbi request reprint Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion
    Eli Hershkovitz
    Pediatric Department, Soroka University Medical Centre, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel
    Ann Neurol 52:234-7. 2002
    ..A bone marrow transplant had an apparently favorable effect. Cytogenetic studies should be performed in all severely symptomatic X-linked adrenoleukodystrophy heterozygotes...
  39. ncbi request reprint Magnetization transfer weighted imaging in the upper cervical spinal cord using cerebrospinal fluid as intersubject normalization reference (MTCSF imaging)
    Seth A Smith
    F M Kirby Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
    Magn Reson Med 54:201-6. 2005
    ..As a first example, this is demonstrated for the noninflammatory spinal cord white matter disease adrenomyeloneuropathy...
  40. ncbi request reprint Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience
    Florian S Eichler
    F M Kirby Research Center for Functional Brain Imaging, Johns Hopkins University, Baltimore, MD, USA
    Radiology 225:245-52. 2002
    ..To compare conventional magnetic resonance (MR) imaging, proton MR spectroscopic imaging, and diffusion tensor (DT) MR imaging findings in patients with X chromosome-linked adrenoleukodystrophy (X-ALD)...

Research Grants6

  1. Multicenter Therapeutic Trials of X-Linked ALD
    Hugo Moser; Fiscal Year: 2005
    ....
  2. Multicenter Therapeutic Trials of X-Linked ALD
    Hugo Moser; Fiscal Year: 2002
    ....
  3. Multicenter Therapeutic Trials of X-Linked ALD
    Hugo Moser; Fiscal Year: 2003
    ....
  4. Multicenter Therapeutic Trials of X-Linked ALD
    Hugo Moser; Fiscal Year: 2004
    ....
  5. Multicenter Therapeutic Trails of X-Linked ALD Supplement
    Hugo Moser; Fiscal Year: 2005
    ..This would facilitate and speed the evaluation of all therapeutic interventions in AMN. These techniques may also be applicable to the study of other spinal cord disorders. ..
  6. THERAPEUTIC TRIALS OF X-LINKED ALD: PHASE III; LORENZO*
    Hugo Moser; Fiscal Year: 2006
    ..It is now recognized that 50% of heterozygous develop pure AMN which may lead to considerable disability. This is the first therapeutic study that also involves women heterozygous for X-ALD. ..