Eichler, Florian

Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy

Eichler, F., Duncan, C., Musolino, P. L., Orchard, P. J., De Oliveira, S., Thrasher, A. J., Armant, M., Dansereau, C., Lund, T. C., Miller, W. P., et al. (2017) · New England Journal of Medicine

Virus-based gene therapy researchLysosomal Storage Disorders Research

Cited by 604

Pathophysiology of X-linked adrenoleukodystrophy

Berger, J., Forss-Petter, S., & Eichler, F. S. (2014) · Biochimie

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 238

Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?

Eichler, F. S., Ren, J., Cossoy, M., Rietsch, A. M., Nagpal, S., Moser, A. B., Frosch, M. P., & Ransohoff, R. M. (2008) · Annals of Neurology

Neuroinflammation and Neurodegeneration MechanismsMultiple Sclerosis Research Studies

Cited by 178

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy

Engelen, M., van Ballegoij, W. J. C., Mallack, E. J., Van Haren, K. P., Köhler, W., Salsano, E., van Trotsenburg, A. S. P., Mochel, F., Sevin, C., Regelmann, M. O., et al. (2022) · Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 156

The natural history of adrenal insufficiency in X-linked adrenoleukodystrophy: an international collaboration

Huffnagel, I. C., Laheji, F. K., Aziz-Bose, R., Tritos, N. A., Marino, R., Linthorst, G. E., Kemp, S., Engelen, M., & Eichler, F. (2019) · The Journal of Clinical Endocrinology & Metabolism

Metabolism and Genetic DisordersAdrenal Hormones and Disorders

Cited by 147

AAV gene therapy for Tay-Sachs disease

Flotte, T. R., Cataltepe, O., Puri, A., Batista, A. R., Moser, R., McKenna-Yasek, D., Douthwright, C., Gernoux, G., Blackwood, M., Mueller, C., et al. (2022) · Nature Medicine

Lysosomal Storage Disorders ResearchVirus-based gene therapy research

Cited by 143

The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis

Berger, J., Wiesinger, C., & Eichler, F. (2015) · The Application of Clinical Genetics

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 140

Brain endothelial dysfunction in cerebral adrenoleukodystrophy

Musolino, P. L., Gong, Y., Snyder, J. M. T., Jimenez, S., Lok, J., Lo, E. H., Moser, A. B., Grabowski, E. F., Frosch, M. P., & Eichler, F. S. (2015) · Brain

Barrier Structure and Function StudiesMetabolism and Genetic Disorders

Cited by 92

MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines

Mallack, E. J., Turk, B. R., Yan, H., Price, C., Demetres, M., Moser, A. B., Becker, C., Hollandsworth, K., Adang, L., Vanderver, A., et al. (2021) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 79

The changing face of adrenoleukodystrophy

Zhu, J., Eichler, F., Biffi, A., Duncan, C. N., Williams, D. A., & Majzoub, J. A. (2020) · Endocrine Reviews

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 78

Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy

Gong, Y., Mu, D., Prabhakar, S., Moser, A., Musolino, P., Ren, J., Breakefield, X. O., Maguire, C. A., & Eichler, F. S. (2015) · Molecular Therapy

Virus-based gene therapy researchLysosomal Storage Disorders Research

Cited by 74

MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy

Liberato, A. P., Mallack, E. J., Aziz-Bose, R., Hayden, D., Lauer, A., Caruso, P. A., Musolino, P. L., & Eichler, F. S. (2019) · Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 69

Microglial dysfunction as a key pathological change in adrenomyeloneuropathy

Gong, Y., Sasidharan, N., Laheji, F., Frosch, M., Musolino, P., Tanzi, R., Kim, D. Y., Biffi, A., El Khoury, J., & Eichler, F. (2017) · Annals of Neurology

Neuroinflammation and Neurodegeneration MechanismsLysosomal Storage Disorders Research

Cited by 54

ABCD1 dysfunction alters white matter microvascular perfusion

Lauer, A., Da, X., Hansen, M. B., Boulouis, G., Ou, Y., Cai, X., Liberato Celso Pedrotti, A., Kalpathy-Cramer, J., Caruso, P., Hayden, D. L., et al. (2017) · Brain

Metabolism and Genetic DisordersBarrier Structure and Function Studies

Cited by 48

Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): A randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial

Köhler, W., Engelen, M., Eichler, F., Lachmann, R., Fatemi, A., Sampson, J., Salsano, E., Gamez, J., Molnar, M. J., Pascual, S., et al. (2023) · The Lancet Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 48

Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for Adrenomyeloneuropathy

Gong, Y., Berenson, A., Laheji, F., Gao, G., Wang, D., Ng, C., Volak, A., Kok, R., Kreouzis, V., Dijkstra, I. M., et al. (2019) · Human Gene Therapy

Virus-based gene therapy researchRNA Interference and Gene Delivery

Cited by 45

Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy

Musolino, P. L., Rapalino, O., Caruso, P., Caviness, V. S., & Eichler, F. S. (2012) · Brain

Metabolism and Genetic DisordersAdvanced MRI Techniques and Applications

Cited by 37

Seven-Tesla proton magnetic resonance spectroscopic imaging in adult X-linked adrenoleukodystrophy

Ratai, E., Kok, T., Wiggins, C., Wiggins, G., Grant, E., Gagoski, B., O’Neill, G., Adalsteinsson, E., & Eichler, F. (2008) · Archives of Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 37

Hematopoietic stem-cell gene therapy is associated with restored white matter microvascular function in cerebral adrenoleukodystrophy

Lauer, A., Speroni, S. L., Choi, M., Da, X., Duncan, C., McCarthy, S., Krishnan, V., Lusk, C. A., Rohde, D., Hansen, M. B., et al. (2023) · Nature Communications

Virus-based gene therapy researchLysosomal Storage Disorders Research

Cited by 26

Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response

Weinhofer, I., Buda, A., Kunze, M., Palfi, Z., Traunfellner, M., Hesse, S., Villoria-Gonzalez, A., Hofmann, J., Hametner, S., Regelsberger, G., et al. (2022) · Communications Biology

Cytomegalovirus and herpesvirus researchHerpesvirus Infections and Treatments

Cited by 20

Beyond gait and balance: Urinary and bowel dysfunction in X-linked adrenoleukodystrophy

Corre, C. S., Grant, N., Sadjadi, R., Hayden, D., Becker, C., Gomery, P., & Eichler, F. S. (2021) · Orphanet Journal of Rare Diseases

Urinary Bladder and Prostate ResearchMetabolism and Genetic Disorders

Cited by 19

Gene therapy for the leukodystrophies: From preclinical animal studies to clinical trials.

Metovic, J., Li, Y., Gong, Y., & Eichler, F. (2024) · Neurotherapeutics

Virus-based gene therapy researchLysosomal Storage Disorders Research

Cited by 16

Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans

Gong, Y., Laheji, F., Berenson, A., Li, Y., Moser, A., Qian, A., Frosch, M., Sadjadi, R., Hahn, R., Maguire, C. A., et al. (2024) · Annals of Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 11

Case 1-2009: A 57-Year-Old Man with Progressive Cognitive Decline

Costello, D. J., Eichler, F. S., Grant, P. E., & Auluck, P. K. (2009) · New England Journal of Medicine

Medical Case Reports and StudiesAutoimmune Neurological Disorders and Treatments

Cited by 9