Doris Leung

2023

A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy

Mohassel, P., Yun, P., Syeda, S., Batra, A., Bradley, A. J., Donkervoort, S., Monges, S., Cohen, J. S., Leung, D. G., Munell, F., Ortez, C., Sánchez-Montáñez, A., Karachunski, P., Brandsema, J., Medne, L., Chaudhry, V., Tasca, G., Foley, A. R., Udd, B., Arai, A. E., & 2 othersWalter, G. A. & Bönnemann, C. G., Aug 2023, In: Annals of Clinical and Translational Neurology. 10, 8, p. 1442-1455 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial

Thornton, C. A., Moxley, R. T., Eichinger, K., Heatwole, C., Mignon, L., Arnold, W. D., Ashizawa, T., Day, J. W., Dent, G., Tanner, M. K., Duong, T., Greene, E. P., Herbelin, L., Johnson, N. E., King, W., Kissel, J. T., Leung, D. G., Lott, D. J., Norris, D. A., Pucillo, E. M., & 7 othersSchell, W., Statland, J. M., Stinson, N., Subramony, S. H., Xia, S., Bishop, K. M. & Bennett, C. F., Mar 2023, In: The Lancet Neurology. 22, 3, p. 218-228 11 p.

Research output: Contribution to journal › Article › peer-review

Comparative effectiveness study of flipped classroom versus online-only instruction of clinical reasoning for medical students

Paul, A., Leung, D., Salas, R. M. E., Cruz, T. E., Abras, C., Saylor, D., Gugliucciello, V., Nunn, J., Gamaldo, C. E. & Strowd, R. E., 2023, In: Medical education online. 28, 1, 2142358.

Research output: Contribution to journal › Article › peer-review

Open Access

Lean tissue mass measurements by dual-energy X-ray absorptiometry and associations with strength and functional outcome measures in facioscapulohumeral muscular dystrophy

the ReSolve Investigators of the FSHD CTRN, Sep 2023, In: Neuromuscular Disorders. 33, 9, p. 63-68 6 p.

Research output: Contribution to journal › Article › peer-review

Meeting report: The 2022 FSHD International Research Congress

2022 FSHD IRC Program committee and co-chairs, Feb 2023, In: Neuromuscular Disorders. 33, 2, p. 196-198 3 p.

Research output: Contribution to journal › Article › peer-review

2022

Antisense Oligonucleotide Therapy for the Nervous System: From Bench to Bedside with Emphasis on Pediatric Neurology

Amanat, M., Nemeth, C. L., Fine, A. S., Leung, D. G. & Fatemi, A., Nov 2022, In: Pharmaceutics. 14, 11, 2389.

Research output: Contribution to journal › Review article › peer-review

Open Access

Long-term extension study of tofacitinib in refractory dermatomyositis

Paik, J. J., Shneyderman, M., Gutierrez-Alamillo, L., Albayda, J., Tiniakou, E., Perin, J., Purwin, G., Leung, S., Leung, D., Casciola-Rosen, L., Koenig, A. S. & Christopher-Stine, L., Feb 2022, In: Arthritis and Rheumatology. 74, 2, p. 371-372 2 p.

Research output: Contribution to journal › Letter › peer-review

Open Access

2021

A phase Ib/IIa, open-label, multiple ascending-dose trial of domagrozumab in fukutin-related protein limb-girdle muscular dystrophy

Leung, D. G., Bocchieri, A. E., Ahlawat, S., Jacobs, M. A., Parekh, V. S., Braverman, V., Summerton, K., Mansour, J., Stinson, N., Bibat, G., Morris, C., Marraffino, S. & Wagner, K. R., Aug 2021, In: Muscle and Nerve. 64, 2, p. 172-179 8 p.

Research output: Contribution to journal › Article › peer-review

Broadening learning communities during COVID-19: developing a curricular framework for telemedicine education in neurology

Gummerson, C. E., Lo, B. D., Porosnicu Rodriguez, K. A., Cosner, Z. L., Hardenbergh, D., Bongiorno, D. M., Wainger, J., Hu, K., Gamaldo, C., Salas, R. M. E., Romo, C. & Leung, D. G., Dec 2021, In: BMC medical education. 21, 1, 549.

Research output: Contribution to journal › Article › peer-review

Open Access

Study of Tofacitinib in Refractory Dermatomyositis: An Open-Label Pilot Study of Ten Patients

Paik, J. J., Casciola-Rosen, L., Shin, J. Y., Albayda, J., Tiniakou, E., Leung, DG., Gutierrez-Alamillo, L., Perin, J., Florea, L., Antonescu, C., Leung, S. G., Purwin, G., Koenig, A. & Christopher-Stine, L., May 2021, In: Arthritis and Rheumatology. 73, 5, p. 858-865 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

2020

Longitudinal functional and imaging outcome measures in FKRP limb-girdle muscular dystrophy

Leung, D. G., Bocchieri, A. E., Ahlawat, S., Jacobs, M. A., Parekh, V. S., Braverman, V., Summerton, K., Mansour, J., Bibat, G., Morris, C., Marraffino, S. & Wagner, K. R., May 19 2020, In: BMC neurology. 20, 1, 196.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

2019

Advancements in magnetic resonance imaging-based biomarkers for muscular dystrophy

Leung, D. G., Oct 1 2019, In: Muscle and Nerve. 60, 4, p. 347-360 14 p.

Research output: Contribution to journal › Review article › peer-review

Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): Protocol of a large, international, multi-center prospective study

Lorusso, S., Johnson, N. E., McDermott, M. P., Eichinger, K., Butterfield, R. J., Carraro, E., Higgs, K., Lewis, L., Mul, K., Sacconi, S., Sansone, V. A., Shieh, P., Van Engelen, B., Wagner, K., Wang, L., Statland, J. M., Tawil, R., Dimachkie, M., Pasnoor, M., Roath, K., & 32 othersMcCalley, A., Currence, M., Herbelin, L., Hamel, J., Arnold, W. D., Alexander, T., Yankie, M., Kelly, K., Holmberg, B., Diaz, L., Jones, A., Butler, A., Moldt, S., Wilson, A., McIntyre, M., Leung, D., Bibat, G., Yep, M., Stinson, N., Jaworek, A., Sissons-Ross, L., Johnstone, L., Skura, C., Deguzman, D., Cornelissen, Y., Villa, L., Puma, A., Gambella, M., Shi, Y., Garcia, J., Beshiri, F. & Mauro, L., Sep 10 2019, In: BMC neurology. 19, 1, 224.

Research output: Contribution to journal › Article › peer-review

Open Access

8 Scopus citations

2018

Magnetic resonance imaging in facioscapulohumeral muscular dystrophy

Leung, D. G., Jun 2018, In: Muscle and Nerve. 57, 6, p. 872-874 3 p.

Research output: Contribution to journal › Editorial › peer-review

Mitochondrial DNA deletions with low-level heteroplasmy in adult-onset myopathy

Leung, D. G., Cohen, J. S., Michelle, E., Bai, R., Mammen, A. L. & Christopher-Stine, L., 2018, In: Journal of Clinical Neuromuscular Disease. 19, 3, p. 117-123 7 p.

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Multivoxel proton magnetic resonance spectroscopy in facioscapulohumeral muscular dystrophy

Leung, D. G., Wang, X., Barker, P. B., Carrino, J. A. & Wagner, K. R., Jun 2018, In: Muscle and Nerve. 57, 6, p. 958-963 6 p.

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Myopathy: Recent Progress, Current Therapies, and Future Directions

Mammen, A. L., Roda, R. H. & Leung, D. G., Oct 14 2018, In: Neurotherapeutics. 15, 4, p. 837-839 3 p.

Research output: Contribution to journal › Editorial › peer-review

Open Access

2017

Advanced MRI Techniques for Muscle Imaging

Kalia, V., Leung, D. G., Sneag, D. B., Grande, F. D. & Carrino, J. A., Sep 1 2017, In: Seminars in Musculoskeletal Radiology. 21, 4, p. 459-469 11 p.

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review

Leung, D. G., Jul 1 2017, In: Journal of neurology. 264, 7, p. 1320-1333 14 p.

Research output: Contribution to journal › Review article › peer-review

2016

Association of severity of illness and intensive care unit readmission: A systematic review

Wong, E. G., Parker, A. M., Leung, D. G., Brigham, E. P. & Arbaje, A. I., Jan 1 2016, In: Heart and Lung. 45, 1, p. 3-9.e2

Research output: Contribution to journal › Review article › peer-review

Open Access

34 Scopus citations

2015

Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy

Leung, D. G., Carrino, J. A., Wagner, K. R. & Jacobs, M. A., Oct 1 2015, In: Muscle and Nerve. 52, 4, p. 512-520 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

39 Scopus citations

2014

A case of progressive quadriceps weakness and elevated creatine kinase level mimicking inclusion body myositis

Leung, D. G., Taylor, H. A., Lindy, A. S., Basehore, M. J. & Mammen, A. L., Feb 2014, In: Arthritis Care and Research. 66, 2, p. 328-333 6 p.

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Magnetic resonance imaging phenotyping of Becker muscular dystrophy

Faridian-Aragh, N., Wagner, K. R., Leung, D. G. & Carrino, J. A., Dec 1 2014, In: Muscle and Nerve. 50, 6, p. 962-967 6 p.

Research output: Contribution to journal › Article › peer-review

19 Scopus citations

Sildenafil does not improve cardiomyopathy in Duchenne/Becker muscular dystrophy

Leung, D. G., Herzka, D. A., Reid Thompson, W., He, B., Bibat, G., Tennekoon, G., Russell, S. D., Schuleri, K. H., Lardo, A. C., Kass, D. A., Thompson, R. E., Judge, D. P. & Wagner, K. R., Oct 1 2014, In: Annals of neurology. 76, 4, p. 541-549 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

56 Scopus citations

2013

Therapeutic advances in muscular dystrophy.

Leung, D. G. & Wagner, K. R., 2013, In: Annals of neurology. 74, 3, p. 404-411 8 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

59 Scopus citations

2012

Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers

Rahimov, F., King, O. D., Leung, D. G., Bibat, G. M., Emerson, C. P., Kunkel, L. M. & Wagner, K. R., Oct 2 2012, In: Proceedings of the National Academy of Sciences of the United States of America. 109, 40, p. 16234-16239 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

54 Scopus citations

2011

Report on the second endocrine aspects of duchenne muscular dystrophy conference December 1-2, 2010, Baltimore, Maryland, USA

Leung, D. G., Germain-Lee, E. L., Denger, B. E. & Wagner, K. R., Aug 2011, In: Neuromuscular Disorders. 21, 8, p. 594-601 8 p.

Research output: Contribution to journal › Article › peer-review

21 Scopus citations

2010

Whole genome association analysis shows that ACE is a risk factor for Alzheimer's disease and fails to replicate most candidates from meta-analysis

Webster, J., Reiman, E. M., Zismann, V. L., Joshipura, K. D., Pearson, J. V., Hu-Lince, D., Huentelman, M. J., Craig, D. W., Coon, K. D., Beach, T., Rohrer, K. C., Zhao, A. S., Leung, D., Bryden, L., Marlowe, L., Kaleem, M., Mastroeni, D., Grover, A., Rogers, J., Heun, R., & 12 othersJessen, F., Kölsch, H., Heward, C. B., Ravid, R., Hutton, M. L., Melquist, S., Petersen, R. C., Caselli, R. J., Papassotiropoulos, A., Stephan, D. A., Hardy, J. & Myers, A., 2010, In: International Journal of Molecular Epidemiology and Genetics. 1, 1, p. 19-30 12 p.

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

2009

Genetic Control of Human Brain Transcript Expression in Alzheimer Disease

Webster, J. A., Gibbs, J. R., Clarke, J., Ray, M., Zhang, W., Holmans, P., Rohrer, K., Zhao, A., Marlowe, L., Kaleem, M., McCorquodale, D. S., Cuello, C., Leung, D., Bryden, L., Nath, P., Zismann, V. L., Joshipura, K., Huentelman, M. J., Hu-Lince, D., Coon, K. D., & 7 othersCraig, D. W., Pearson, J. V., Heward, C. B., Reiman, E. M., Stephan, D., Hardy, J. & Myers, A. J., Apr 10 2009, In: American journal of human genetics. 84, 4, p. 445-458 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

205 Scopus citations

2008

Sorl1 as an Alzheimer's disease predisposition gene?

Webster, J. A., Myers, A. J., Pearson, J. V., Craig, D. W., Hu-Lince, D., Coon, K. D., Zismann, V. L., Beach, T., Leung, D., Bryden, L., Halperin, R. F., Marlowe, L., Kaleem, M., Huentelman, M. J., Joshipura, K., Walker, D., Heward, C. B., Ravid, R., Rogers, J., Papassotiropoulos, A., & 3 othersHardy, J., Reiman, E. M. & Stephan, D. A., Jan 2008, In: Neurodegenerative Diseases. 5, 2, p. 60-64 5 p.

Research output: Contribution to journal › Article › peer-review

Open Access

58 Scopus citations

2007

A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease

Coon, K. D., Myers, A. J., Craig, D. W., Webster, J. A., Pearson, J. V., Lince, D. H., Zismann, V. L., Beach, T. G., Leung, D., Bryden, L., Halperin, R. F., Marlowe, L., Kaleem, M., Walker, D. G., Ravid, R., Heward, C. B., Rogers, J., Papassotiropoulos, A., Reiman, E. M., Hardy, J., & 1 othersStephan, D. A., Apr 2007, In: Journal of Clinical Psychiatry. 68, 4, p. 613-618 6 p.

Research output: Contribution to journal › Article › peer-review

358 Scopus citations

A survey of genetic human cortical gene expression

Myers, A. J., Gibbs, J. R., Webster, J. A., Rohrer, K., Zhao, A., Marlowe, L., Kaleem, M., Leung, D., Bryden, L., Nath, P., Zismann, V. L., Joshipura, K., Huentelman, M. J., Hu-Lince, D., Coon, K. D., Craig, D. W., Pearson, J. V., Holmans, P., Heward, C. B., Reiman, E. M., & 2 othersStephan, D. & Hardy, J., Dec 2007, In: Nature genetics. 39, 12, p. 1494-1499 6 p.

Research output: Contribution to journal › Article › peer-review

389 Scopus citations

GAB2 Alleles Modify Alzheimer's Risk in APOE ε4 Carriers

Reiman, E. M., Webster, J. A., Myers, A. J., Hardy, J., Dunckley, T., Zismann, V. L., Joshipura, K. D., Pearson, J. V., Hu-Lince, D., Huentelman, MJ. J., Craig, D. W., Coon, K. D., Liang, W. S., Herbert, R. L. H., Beach, T., Rohrer, K. C., Zhao, A. S., Leung, D., Bryden, L., Marlowe, L., & 14 othersKaleem, M., Mastroeni, D., Grover, A., Heward, C. B., Ravid, R., Rogers, J., Hutton, M. L., Melquist, S., Petersen, R. C., Alexander, G. E., Caselli, RJ. J., Kukull, W., Papassotiropoulos, A. & Stephan, D. A., Jun 7 2007, In: Neuron. 54, 5, p. 713-720 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

395 Scopus citations

The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts

Myers, A. J., Pittman, A. M., Zhao, A. S., Rohrer, K., Kaleem, M., Marlowe, L., Lees, A., Leung, D., McKeith, I. G., Perry, R. H., Morris, C. M., Trojanowski, J. Q., Clark, C., Karlawish, J., Arnold, S., Forman, M. S., Van Deerlin, V., de Silva, R. & Hardy, J., Mar 2007, In: Neurobiology of Disease. 25, 3, p. 561-570 10 p.

Research output: Contribution to journal › Article › peer-review

200 Scopus citations

2005

Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration

Pittman, A. M., Myers, A. J., Abou-Sleiman, P., Fung, H. C., Kaleem, M., Marlowe, L., Duckworth, J., Leung, D., Williams, D., Kilford, L., Thomas, N., Morris, C. M., Dickson, D., Wood, N. W., Hardy, J., Lees, A. J. & De Silva, R., Nov 2005, In: Journal of medical genetics. 42, 11, p. 837-846 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

194 Scopus citations

The H1c haplotype at the MAPT locus is associated with Alzheimer's disease

Myers, A. J., Kaleem, M., Marlowe, L., Pittman, A. M., Lees, A. J., Fung, H. C., Duckworth, J., Leung, D., Gibson, A., Morris, C. M., de Silva, R. & Hardy, J., Aug 15 2005, In: Human molecular genetics. 14, 16, p. 2399-2404 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

171 Scopus citations

2001

Sulfated tyrosines contribute to the formation of the C5a docking site of the human C5a anaphylatoxin receptor

Farzan, M., Schnitzler, C. E., Vasilieva, N., Leung, D., Kuhn, J., Gerard, C., Gerard, N. P. & Choe, H., May 7 2001, In: Journal of Experimental Medicine. 193, 9, p. 1059-1065 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2000

BACE2, a β-secretase homolog, cleaves at the β site and within the amyloid-β region of the amyloid-β precursor protein

Farzan, M., Schnitzler, C. E., Vasilieva, N., Leung, D. & Choe, H., Aug 15 2000, In: Proceedings of the National Academy of Sciences of the United States of America. 97, 17, p. 9712-9717 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Doris Leung

Research output

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