Research output per year
Research output per year
- 1 - 50 out of 146 results
Search results
-
2024
Peroxisomal disorders
Raymond, G. V., Jan 1 2024, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition: Volume 1. Elsevier, Vol. 1. p. 887-896 10 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter
-
2023
A Phase 1 Study of Oral Vitamin D3 in Boys and Young Men With X-Linked Adrenoleukodystrophy
Van Haren, K. P., Cunanan, K., Awani, A., Gu, M., Peña, D., Chromik, L. C., Považan, M., Rossi, N. C., Goodman, J., Sundaram, V., Winterbottom, J., Raymond, G., Cowan, T., Enns, G. M., Waubant, E., Steinman, L., Barker, P., Spielman, D. & Fatemi, A., Mar 31 2023, In: Neurology: Genetics. 9, 2, e200061.Research output: Contribution to journal › Article › peer-review
Open Access -
2022
Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series
Cheung, A., Argyriou, C., Yergeau, C., D’Souza, Y., Riou, É., Lévesque, S., Raymond, G., Daba, M., Rtskhiladze, I., Tkemaladze, T., Adang, L., La Piana, R., Bernard, G. & Braverman, N., Apr 2022, In: Neurogenetics. 23, 2, p. 115-127 13 p.Research output: Contribution to journal › Article › peer-review
-
International Recommendations for the Diagnosis and Management of Patients with Adrenoleukodystrophy: A Consensus-Based Approach
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., Tritos, N. A., Halper, A., Lachmann, R. H., Davison, J., Raymond, G. V., Lund, T. C., Orchard, P. J., Kuehl, J. S., Lindemans, C. A. & Caruso, P. & 8 others, , Nov 22 2022, In: Neurology. 99, 21, p. 940-951 12 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Nervonic Acid Attenuates Accumulation of Very Long-Chain Fatty Acids and is a Potential Therapy for Adrenoleukodystrophy
Terluk, M. R., Tieu, J., Sahasrabudhe, S. A., Moser, A., Watkins, P. A., Raymond, G. V. & Kartha, R. V., Apr 2022, In: Neurotherapeutics. 19, 3, p. 1007-1017 11 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future
Moser, A. B., Seeger, E. & Raymond, G. V., Mar 2022, In: International Journal of Neonatal Screening. 8, 1, 16.Research output: Contribution to journal › Comment/debate › peer-review
Open Access -
Presymptomatic Lesion in Childhood Cerebral Adrenoleukodystrophy: Timing and Treatment
Mallack, E. J., Van Haren, K. P., Torrey, A., Van De Stadt, S., Engelen, M., Raymond, G. V., Fatemi, A. & Eichler, F. S., Aug 2 2022, In: Neurology. 99, 5, p. E512-E520Research output: Contribution to journal › Article › peer-review
-
Sensorimotor outcomes in adrenomyeloneuropathy show significant disease progression
Keller, J. L., Eloyan, A., Raymond, G. V., Fatemi, A. & Zackowski, K. M., Mar 2022, In: Journal of Inherited Metabolic Disease. 45, 2, p. 308-317 10 p.Research output: Contribution to journal › Article › peer-review
-
Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy
Gupta, A. O., Raymond, G., Pierpont, E. I., Kemp, S., McIvor, R. S., Rayannavar, A., Miller, B., Lund, T. C. & Orchard, P. J., 2022, In: Expert Opinion on Biological Therapy. 22, 9, p. 1151-1162 12 p.Research output: Contribution to journal › Review article › peer-review
Open Access -
2021
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., Van Haren, K., Ruzhnikov, M., Kurtzberg, J., Maegawa, G., Orchard, P. J., Lund, T. C., Raymond, G. V., Regelmann, M., Orsini, J. J. & Seeger, E. & 3 others, , May 2021, In: Journal of Inherited Metabolic Disease. 44, 3, p. 728-739 12 p.Research output: Contribution to journal › Article › peer-review
Open Access -
2020
Author response: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain
Patel, H., Kumar, A., Raymond, G. & Mainali, G., Mar 10 2020, In: Neurology. 94, 10, p. 458-459 2 p.Research output: Contribution to journal › Comment/debate › peer-review
-
Failure of intrathecal allogeneic mesenchymal stem cells to halt progressive demyelination in two boys with cerebral adrenoleukodystrophy
Gupta, A., Orchard, P. J., Miller, W. P., Nascene, D. R., Raymond, G. V., Loes, D. J., McKenna, D. H. & Lund, T. C., May 1 2020, In: Stem Cells Translational Medicine. 9, 5, p. 554-558 5 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Peroxisomal disorders
Raymond, G. V., Jan 1 2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1. Elsevier, p. 931-942 12 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter
-
Rare Spontaneous Attenuation of Childhood Inflammatory Cerebral Adrenoleukodystrophy
Choi, H. W., Raymond, G. V. & Miller, W., Apr 1 2020, In: Journal of Pediatric Neurology. 18, 2, p. 106-109 4 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Volume of Gadolinium Enhancement and Successful Repair of the Blood-Brain Barrier in Cerebral Adrenoleukodystrophy
Lund, T. C., Ng, M., Orchard, P. J., Loes, D. J., Raymond, G. V., Gupta, A., Kenny-Jung, D. & Nascene, D. R., Oct 2020, In: Biology of Blood and Marrow Transplantation. 26, 10, p. 1894-1899 6 p.Research output: Contribution to journal › Article › peer-review
Open Access -
2019
A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy
Wiens, K., Berry, S. A., Choi, H., Gaviglio, A., Gupta, A., Hietala, A., Kenney-Jung, D., Lund, T., Miller, W., Pierpont, E. I., Raymond, G., Winslow, H., Zierhut, H. A. & Orchard, P. J., Jul 2019, In: American Journal of Medical Genetics, Part A. 179, 7, p. 1205-1213 9 p.Research output: Contribution to journal › Article › peer-review
Open Access12 Scopus citations -
Association between APOE4 and biomarkers in cerebral adrenoleukodystrophy
Orchard, P. J., Markowski, T. W., Higgins, L. A., Raymond, G. V., Nascene, D. R., Miller, W. P., Pierpont, E. I. & Lund, T. C., Dec 1 2019, In: Scientific reports. 9, 1, 7858.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study
Casasnovas, C., Ruiz, M., Schlüter, A., Naudí, A., Fourcade, S., Veciana, M., Castañer, S., Albertí, A., Bargalló, N., Johnson, M., Raymond, G. V., Fatemi, A., Moser, A. B., Villarroya, F., Portero-Otín, M., Artuch, R., Pamplona, R. & Pujol, A., Oct 1 2019, In: Neurotherapeutics. 16, 4, p. 1167-1182 16 p.Research output: Contribution to journal › Article › peer-review
Open Access12 Scopus citations -
Cerebrotendinous xanthomatosis: The rare "treatable" disease you never consider
Raymond, G. V. & Schiffmann, R., Jan 8 2019, In: Neurology. 92, 2, p. 61-62 2 p.Research output: Contribution to journal › Editorial › peer-review
-
Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation
Raymond, G. V., Aubourg, P., Paker, A., Escolar, M., Fischer, A., Blanche, S., Baruchel, A., Dalle, J. H., Michel, G., Prasad, V., Miller, W., Paadre, S., Balser, J., Kurtzberg, J., Nascene, D. R., Orchard, P. J. & Lund, T., Mar 2019, In: Biology of Blood and Marrow Transplantation. 25, 3, p. 538-548 11 p.Research output: Contribution to journal › Article › peer-review
Open Access23 Scopus citations -
Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain
Patel, H., Kumar, A., Raymond, G. & Mainali, G., Apr 2 2019, In: Neurology. 92, 14, p. E1665-E1666Research output: Contribution to journal › Comment/debate › peer-review
Open Access2 Scopus citations -
2018
Post-transplant adaptive function in childhood cerebral adrenoleukodystrophy
Pierpont, E. I., McCoy, E., King, K. E., Ziegler, R. S., Shanley, R., Nascene, D., Raymond, G. V., Phelan, R., Lund, T. C., Orchard, P. J. & Miller, W. P., Mar 2018, In: Annals of Clinical and Translational Neurology. 5, 3, p. 252-261 10 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
2017
Antioxidant capacity and superoxide dismutase activity in adrenoleukodystrophy
Turk, B. R., Theisen, B. E., Nemeth, C. L., Marx, J. S., Shi, X., Rosen, M., Jones, R., Moser, A. B., Watkins, P. A., Raymond, G. V., Tiffany, C. W. & Fatemi, A., May 2017, In: JAMA Neurology. 74, 5, p. 519-524 6 p.Research output: Contribution to journal › Article › peer-review
Open Access10 Scopus citations -
De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females
Webster, R., Cho, M. T., Retterer, K., Millan, F., Nowak, C., Douglas, J., Ahmad, A., Raymond, G. V., Johnson, M. R., Pujol, A., Begtrup, A., McKnight, D., Devinsky, O. & Chung, W. K., May 1 2017, In: Clinical Genetics. 91, 5, p. 756-763 8 p.Research output: Contribution to journal › Article › peer-review
12 Scopus citations -
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., Raymond, G. V., Sankar, R., Shah, A. J., Sevin, C., Gaspar, H. B., Gissen, P., Amartino, H., Bratkovic, D., Smith, N. J. C. & Paker, A. M. & 5 others, , Oct 26 2017, In: New England Journal of Medicine. 377, 17, p. 1630-1638 9 p.Research output: Contribution to journal › Article › peer-review
Open Access190 Scopus citations -
Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine
Foster, L. A., Johnson, M. R., MacDonald, J. T., Karachunski, P. I., Henry, T. R., Nascene, D. R., Moran, B. P. & Raymond, G. V., Jan 1 2017, In: Pediatric Neurology. 66, p. 108-111 4 p.Research output: Contribution to journal › Article › peer-review
18 Scopus citations -
Leukodystrophy: Basic and clinical
Raymond, G. V., Jan 1 2017, Advances in Neurobiology. Springer New York LLC, p. 365-382 18 p. (Advances in Neurobiology; vol. 15).Research output: Chapter in Book/Report/Conference proceeding › Chapter
4 Scopus citations -
Neurocognitive trajectory of boys who received a hematopoietic stem cell transplant at an early stage of childhood cerebral adrenoleukodystrophy
Pierpont, E. I., Eisengart, J. B., Shanley, R., Nascene, D., Raymond, G. V., Shapiro, E. G., Ziegler, R. S., Orchard, P. J. & Miller, W. P., Jun 2017, In: JAMA Neurology. 74, 6, p. 710-717 8 p.Research output: Contribution to journal › Article › peer-review
Open Access21 Scopus citations -
Peroxisomal Disorders
Raymond, G. V., Barañano, K. W. & Fatemi, S. A., May 11 2017, Swaiman's Pediatric Neurology: Principles and Practice: Sixth Edition. Elsevier Inc., p. 347-354 8 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter
-
2016
A hierarchical Bayesian approach for combining pharmacokinetic/pharmacodynamic modeling and Phase IIa trial design in orphan drugs: Treating adrenoleukodystrophy with Lorenzo’s oil
Basu, C., Ahmed, M. A., Kartha, R. V., Brundage, R. C., Raymond, G. V., Cloyd, J. C. & Carlin, B. P., Nov 1 2016, In: Journal of biopharmaceutical statistics. 26, 6, p. 1025-1039 15 p.Research output: Contribution to journal › Article › peer-review
8 Scopus citations -
A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy
Ahmed, M. A., Kartha, R. V., Brundage, R. C., Cloyd, J., Basu, C., Carlin, B. P., Jones, R. O., Moser, A. B., Fatemi, A. & Raymond, G. V., Jun 1 2016, In: British Journal of Clinical Pharmacology. 81, 6, p. 1058-1066 9 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Cerebral Spinal Fluid levels of Cytokines are elevated in Patients with Metachromatic Leukodystrophy
Thibert, K. A., Raymond, G. V., Tolar, J., Miller, W. P., Orchard, P. J. & Lund, T. C., Apr 15 2016, In: Scientific reports. 6, 24579.Research output: Contribution to journal › Article › peer-review
Open Access10 Scopus citations -
Childhood cerebral adrenoleukodystrophy: MR perfusion measurements and their use in predicting clinical outcome after hematopoietic stem cell transplantation
McKinney, A. M., Benson, J., Nascene, D. R., Eisengart, J., Salmela, M. B., Loes, D. J., Zhang, L., Patel, K., Raymond, G. V. & Miller, W. P., Sep 2016, In: American Journal of Neuroradiology. 37, 9, p. 1713-1720 8 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H
Raymond, G. V., Pasquali, M., Polgreen, L. E., Dickson, P. I., Miller, W. P., Orchard, P. J. & Lund, T. C., Dec 2 2016, In: Scientific reports. 6, 38305.Research output: Contribution to journal › Article › peer-review
Open Access8 Scopus citations -
Intensity of MRI gadolinium enhancement in cerebral adrenoleukodystrophy: A biomarker for inflammation and predictor of outcome following transplantation in higher risk patients
Miller, W. P., Mantovani, L. F., Muzic, J., Rykken, J. B., Gawande, R. S., Lund, T. C., Shanley, R. M., Raymond, G. V., Orchard, P. J. & Nascene, D. R., Feb 2016, In: American Journal of Neuroradiology. 37, 2, p. 367-372 6 p.Research output: Contribution to journal › Article › peer-review
Open Access17 Scopus citations -
Newborn screening for X-Linked adrenoleukodystrophy
Moser, A. B., Jones, R. O., Hubbard, W. C., Tortorelli, S., Orsini, J. J., Caggana, M., Vogel, B. H. & Raymond, G. V., Dec 2016, In: International Journal of Neonatal Screening. 2, 4, 15.Research output: Contribution to journal › Article › peer-review
Open Access24 Scopus citations -
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines
Braverman, N. E., Raymond, G. V., Rizzo, W. B., Moser, A. B., Wilkinson, M. E., Stone, E. M., Steinberg, S. J., Wangler, M. F., Rush, E. T., Hacia, J. G. & Bose, M., Mar 1 2016, In: Molecular genetics and metabolism. 117, 3, p. 313-321 9 p.Research output: Contribution to journal › Review article › peer-review
Open Access101 Scopus citations -
2015
Alpha-thalassemia intellectual disability: Variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X)
Basehore, M. J., Michaelson-Cohen, R., Levy-Lahad, E., Sismani, C., Bird, L. M., Friez, M. J., Walsh, T., Abidi, F., Holloway, L., Skinner, C., Mcgee, S., Alexandrou, A., Syrrou, M., Patsalis, P. C., Raymond, G., Wang, T., Schwartz, C. E., King, M. C. & Stevenson, R. E., May 1 2015, In: Clinical Genetics. 87, 5, p. 461-466 6 p.Research output: Contribution to journal › Article › peer-review
6 Scopus citations -
Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report
Boucher, A. A., Miller, W., Shanley, R., Ziegler, R., Lund, T., Raymond, G. & Orchard, P. J., Aug 7 2015, In: Orphanet journal of rare diseases. 10, 1, 313.Research output: Contribution to journal › Article › peer-review
Open Access57 Scopus citations -
Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines
Vogel, B. H., Bradley, S. E., Adams, D. J., D'Aco, K., Erbe, R. W., Fong, C., Iglesias, A., Kronn, D., Levy, P., Morrissey, M., Orsini, J., Parton, P., Pellegrino, J., Saavedra-Matiz, C. A., Shur, N., Wasserstein, M., Raymond, G. V. & Caggana, M., Apr 1 2015, In: Molecular genetics and metabolism. 114, 4, p. 599-603 5 p.Research output: Contribution to journal › Article › peer-review
48 Scopus citations -
2014
Distal Xq28 microdeletions: Clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature
Calhoun, A. R. U. L. & Raymond, G. V., Oct 2014, In: American Journal of Medical Genetics, Part A. 164, 10, p. 2613-2617 5 p.Research output: Contribution to journal › Article › peer-review
13 Scopus citations -
Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible
Theda, C., Gibbons, K., DeFor, T. E., Donohue, P. K., Golden, W. C., Kline, A. D., Gulamali-Majid, F., Panny, S. R., Hubbard, W. C., Jones, R. O., Liu, A. K., Moser, A. B. & Raymond, G. V., 2014, In: Molecular genetics and metabolism. 111, 1, p. 55-57 3 p.Research output: Contribution to journal › Article › peer-review
Open Access35 Scopus citations -
Peroxisomal Disorders
Raymond, G. V., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 713-724 12 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter
-
The Pex1-G844D mouse: A model for mild human Zellweger spectrum disorder
Hiebler, S., Masuda, T., Hacia, J. G., Moser, A. B., Faust, P. L., Liu, A., Chowdhury, N., Huang, N., Lauer, A., Bennett, J., Watkins, P. A., Zack, D. J., Braverman, N. E., Raymond, G. V. & Steinberg, S. J., Apr 2014, In: Molecular genetics and metabolism. 111, 4, p. 522-532 11 p.Research output: Contribution to journal › Article › peer-review
Open Access30 Scopus citations -
2013
Child neurology: Zellweger syndrome
Lee, P. R. & Raymond, G. V., May 14 2013, In: Neurology. 80, 20, p. e207-e210Research output: Contribution to journal › Article › peer-review
Open Access25 Scopus citations -
Clinical reasoning: A 56-year-old man with progressive spasticity
Dhamija, R., Raymond, G. V. & Gavrilova, R., Feb 26 2013, In: Neurology. 80, 9, p. e84-e88Research output: Contribution to journal › Comment/debate › peer-review
Open Access2 Scopus citations -
Multi-Institutional Assessments of Transplantation for Metabolic Disorders
Orchard, P., Boelens, J. J. & Raymond, G., Jan 2013, In: Biology of Blood and Marrow Transplantation. 19, 1 SUPPL., p. S58-S63Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly
Gonzaga-Jauregui, C., Lotze, T., Jamal, L., Penney, S., Campbell, I. M., Pehlivan, D., Hunter, J. V., Woodbury, S. L., Raymond, G., Adesina, A. M., Jhangiani, S. N., Reid, J. G., Muzny, D. M., Boerwinkle, E., Lupski, J. R., Gibbs, R. A. & Wiszniewski, W., Dec 2013, In: JAMA Neurology. 70, 12, p. 1491-1498 8 p.Research output: Contribution to journal › Article › peer-review
Open Access38 Scopus citations -
Optical coherence tomography in X-linked adrenoleukodystrophy
Aquino, J. J., Sotirchos, E. S., Saidha, S., Raymond, G. V. & Calabresi, P. A., Sep 2013, In: Pediatric Neurology. 49, 3, p. 182-184 3 p.Research output: Contribution to journal › Article › peer-review
6 Scopus citations -
The FGF and FGFR gene family and risk of cleft lip with or without cleft palate
Wang, H., Zhang, T., Wu, T., Hetmanski, J. B., Ruczinski, I., Schwender, H., Liang, K. Y., Murray, T., Daniele Fallin, M., Redett, R. J., Raymond, G. V., Jin, S. C., Chou, Y. H. W., Chen, P. K. T., Yeow, V., Chong, S. S., Cheah, F. S. H., Jee, S. H., Jabs, E. W. & Scott, A. F. & 1 others, , Jan 2013, In: Cleft Palate-Craniofacial Journal. 50, 1, p. 96-103 8 p.Research output: Contribution to journal › Article › peer-review
Open Access24 Scopus citations