Neurology & Neurotherapeutics - NE Neuro Muscular Section

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2020

A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy

Nicolau, S., Liewluck, T., Elliott, J. L., Engel, A. G. & Milone, M., Mar 2020, In : Neuromuscular Disorders. 30, 3, p. 236-240 5 p.

Research output: Contribution to journalArticle

Central autonomic network functional connectivity: correlation with baroreflex function and cardiovascular variability in older adults

Ding, K., Tarumi Ph.D., T., Wang, C., Vernino, S., Zhang, R. & Zhu, D. C., Jun 1 2020, In : Brain Structure and Function. 225, 5, p. 1575-1585 11 p.

Research output: Contribution to journalArticle

Clinical Effects of the Self-administered Subcutaneous Complement Inhibitor Zilucoplan in Patients with Moderate to Severe Generalized Myasthenia Gravis: Results of a Phase 2 Randomized, Double-Blind, Placebo-Controlled, Multicenter Clinical Trial

Howard, J. F., Nowak, R. J., Wolfe, G. I., Freimer, M. L., Vu, T. H., Hinton, J. L., Benatar, M., Duda, P. W., MacDougall, J. E., Farzaneh-Far, R., Kaminski, H. J., Barohn, R., Dimachkie, M., Pasnoor, M., Farmakidis, C., Liu, T., Colgan, S., Benatar, M. G., Bertorini, T., Pillai, R. & 55 others, Henegar, R., Bromberg, M., Gibson, S., Janecki, T., Elsheikh, B., Matisak, P., Genge, A., Guidon, A., David, W., Habib, A. A., Mathew, V., Mozaffar, T., Hewitt, W., Barnett, D., Sullivan, P., Ho, D., Traub, R. E., Chopra, M., Aly, R., Bayat, E., Abu-Rub, M., Khan, S., Lange, D., Holzberg, S., Khatri, B., Lindman, E., Olapo, T., Sershon, L. M., Lisak, R. P., Bernitsas, E., Jia, K., Malik, R., Lewis-Collins, T. D., Nicolle, M., Sharma, A., Roy, B., Nye, J., Pulley, M., Berger, A., Shabbir, Y., Sachdev, A., Patterson, K., Siddiqi, Z., Sivak, M., Bratton, J., Small, G., Kohli, A., Fetter, M., Lam, L., Harvey, B., Silvestri, N., Patrick, K., Zakalik, K., Pontius, A. & Hoarty, M., May 2020, In : JAMA neurology. 77, 5, p. 582-592 11 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Existence of a Dose-Length Effect in Spinal Nerves Receiving Single-Session Stereotactic Ablative Radiation Therapy

Hrycushko, B., van der Kogel, A. J., Phillips, L., Folkert, M., Sayre, J. W., Vernino, S., Hassan-Rezaeian, N., Foster, R. D., Yamada, Y., Timmerman, R. & Medin, P. M., Apr 1 2020, In : International Journal of Radiation Oncology Biology Physics. 106, 5, p. 1010-1016 7 p.

Research output: Contribution to journalArticle

Human papillomavirus (HPV) vaccine and autonomic disorders: a position statement from the American Autonomic Society

on behalf of the American Autonomic Society, Feb 1 2020, In : Clinical Autonomic Research. 30, 1, p. 13-18 6 p.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Plasma creatinine and oxidative stress biomarkers in amyotrophic lateral sclerosis

Mitsumoto, H., Garofalo, D. C., Santella, R. M., Sorenson, E. J., Oskarsson, B., Fernandes, J. A. M., Andrews, H., Hupf, J., Gilmore, M., Heitzman, D., Bedlack, R. S., Katz, J. S., Barohn, R. J., Kasarskis, E. J., lomen-Hoerth, C., Mozaffar, T., Nations, S. P., Swenson, A. J. & Factor-Litvak, P., Apr 2 2020, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 21, 3-4, p. 263-272 10 p.

Research output: Contribution to journalArticle

Primary lateral sclerosis (PLS) functional rating scale: PLS-specific clinimetric scale

the PLSFRS study group, Feb 1 2020, In : Muscle and Nerve. 61, 2, p. 163-172 10 p.

Research output: Contribution to journalArticle

3 Scopus citations

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial

Madsen, K. L., Buch, A. E., Cohen, B. H., Falk, M. J., Goldsberry, A., Goldstein, A., Karaa, A., Koenig, M. K., Muraresku, C. C., Meyer, C., O'Grady, M., Scaglia, F., Shieh, P. B., Vockley, J., Zolkipli-Cunningham, Z., Haller, R. G. & Vissing, J., Feb 18 2020, In : Neurology. 94, 7, p. e687-e698

Research output: Contribution to journalArticle

1 Scopus citations

Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS

CReATe Consortium, Jul 7 2020, In : Neurology. 95, 1, p. e59-e69

Research output: Contribution to journalArticle

2019

Eculizumab improves fatigue in refractory generalized myasthenia gravis

The REGAIN Study Group, Aug 15 2019, In : Quality of Life Research. 28, 8, p. 2247-2254 8 p.

Research output: Contribution to journalArticle

Open Access
11 Scopus citations
3 Scopus citations

Human papillomavirus vaccine (HPV) and autonomic disorders: A position statement from the American Autonomic Society

on behalf of the American Autonomic Society, Jan 1 2019, In : Autonomic Neuroscience: Basic and Clinical. 102550.

Research output: Contribution to journalArticle

1 Scopus citations
25 Scopus citations

Long-term safety and efficacy of eculizumab in generalized myasthenia gravis

for the Regain Study Group, Jul 2019, In : Muscle and Nerve. 60, 1, p. 14-24 11 p.

Research output: Contribution to journalArticle

Open Access
26 Scopus citations

No effect of triheptanoin on exercise performance in McArdle disease

Madsen, K. L., Laforêt, P., Buch, A. E., Stemmerik, M. G., Ottolenghi, C., Hatem, S. N., Raaschou-Pedersen, D. T., Poulsen, N. S., Atencio, M., Luton, M. P., Ceccaldi, A., Haller, R. G., Quinlivan, R., Mochel, F. & Vissing, J., Oct 1 2019, In : Annals of Clinical and Translational Neurology. 6, 10, p. 1949-1960 12 p.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Progressive exercise training improves maximal aerobic capacity in individuals with well-healed burn injuries

Romero, S. A., Moralez, G., Jaffery, M. F., Huang, M., Cramer, M. N., Romain, N., Kouda, K., Haller, R. G. & Crandall, C. G., Oct 1 2019, In : American journal of physiology. Regulatory, integrative and comparative physiology. 317, 4, p. R563-R570

Research output: Contribution to journalArticle

Open Access
1 Scopus citations
3 Scopus citations

Rasagiline for amyotrophic lateral sclerosis: A randomized, controlled trial

The Rasagiline Investigators of the Muscle Study Group and Western ALS Consortium, Feb 1 2019, In : Muscle and Nerve. 59, 2, p. 201-207 7 p.

Research output: Contribution to journalArticle

8 Scopus citations
Open Access
7 Scopus citations

Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial

Hanna, M. G., Badrising, U. A., Benveniste, O., Lloyd, T. E., Needham, M., Chinoy, H., Aoki, M., Machado, P. M., Liang, C., Reardon, K. A., de Visser, M., Ascherman, D. P., Barohn, R. J., Dimachkie, M. M., Miller, J. A. L., Kissel, J. T., Oskarsson, B., Joyce, N. C., Van den Bergh, P., Baets, J. & 28 others, De Bleecker, J. L., Karam, C., David, W. S., Mirabella, M., Nations, S. P., Jung, H. H., Pegoraro, E., Maggi, L., Rodolico, C., Filosto, M., Shaibani, A. I., Sivakumar, K., Goyal, N. A., Mori-Yoshimura, M., Yamashita, S., Suzuki, N., Katsuno, M., Murata, K., Nodera, H., Nishino, I., Romano, C. D., Williams, V. S. L., Vissing, J., Auberson, L. Z., Wu, M., de Vera, A., Papanicolaou, D. A. & Amato, A. A., Sep 2019, In : The Lancet Neurology. 18, 9, p. 834-844 11 p.

Research output: Contribution to journalArticle

14 Scopus citations

Spinal Nerve Tolerance to Single-Session Stereotactic Ablative Radiation Therapy

Hrycushko, B., van der Kogel, A. J., Phillips, L. T., Folkert, M. R., Sayre, J. W., Vernino, S., Hassan-Rezaeian, N., Foster, R. D., Yamada, Y., Timmerman, R. & Medin, P. M., Jan 1 2019, In : International Journal of Radiation Oncology Biology Physics.

Research output: Contribution to journalArticle

2 Scopus citations

Usefulness of Blood Pressure Variability Indices Derived From 24-Hour Ambulatory Blood Pressure Monitoring in Detecting Autonomic Failure

Lodhi, H. A., Peri-Okonny, P. A., Schesing, K., Phelps, K., Ngo, C., Evans, H., Arbique, D., Price, A. L., Vernino, S., Phillips, L., Mitchell, J. H., Smith, S. A., Yano, Y., Das, S. R., Wang, T. & Vongpatanasin, W., Apr 2 2019, In : Journal of the American Heart Association. 8, 7, p. e010161

Research output: Contribution to journalArticle

Open Access
1 Scopus citations
2018

A novel gain-of-function Nav1.7 mutation in a carbamazepine-responsive patient with adult-onset painful peripheral neuropathy

Adi, T., Estacion, M., Schulman, B. R., Vernino, S., Dib-Hajj, S. D. & Waxman, S. G., Jan 1 2018, In : Molecular Pain. 14

Research output: Contribution to journalArticle

Autoimmunity in postural orthostatic tachycardia syndrome: Current understanding

Vernino, S. & Stiles, L. E., Jan 1 2018, (Accepted/In press) In : Autonomic Neuroscience: Basic and Clinical.

Research output: Contribution to journalArticle

17 Scopus citations

Effect of Mexiletine on Muscle Stiffness in Patients with Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials

Stunnenberg, B. C., Raaphorst, J., Groenewoud, H. M., Statland, J. M., Griggs, R. C., Woertman, W., Stegeman, D. F., Timmermans, J., Trivedi, J. R., Matthews, E., Saris, C. G. J., Schouwenberg, B. J., Drost, G., van Engelen, B. G. M. & van der Wilt, G. J., Dec 11 2018, In : JAMA - Journal of the American Medical Association. 320, 22, p. 2344-2353 10 p.

Research output: Contribution to journalArticle

18 Scopus citations

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium & Project MinE ALS Sequencing Consortium, Mar 21 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

108 Scopus citations

Infiltrating macrophages are broadly activated at the early stage to support acute skeletal muscle injury repair

Wang, X., Zhao, W., Ransohoff, R. M. & Zhou, L., Jan 1 2018, (Accepted/In press) In : Journal of Neuroimmunology.

Research output: Contribution to journalArticle

9 Scopus citations

Integrated Analysis of Droxidopa for the Treatment of Neurogenic Orthostatic Hypotension in Patients with Parkinson Disease

Hauser, R. A., Biaggioni, I., Hewitt, L. A. & Vernino, S., Nov 1 2018, In : Movement Disorders Clinical Practice. 5, 6, p. 627-634 8 p.

Research output: Contribution to journalArticle

5 Scopus citations

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency

Vissing, J., Akman, H. O., Aasly, J., Kahler, S. G., Bacino, C. A., DiMauro, S. & Haller, R. G., Sep 11 2018, In : Neurology. 91, 11, p. e1077-e1082

Research output: Contribution to journalArticle

4 Scopus citations

Longitudinal screening detects cognitive stability and behavioral deterioration in ALS patients

Woolley, S., Goetz, R., Factor-Litvak, P., Murphy, J., Hupf, J., Lomen-Hoerth, C., Andrews, H., Heitzman, D., Bedlack, R., Katz, J., Barohn, R., Sorenson, E., Oskarsson, B., Filho, A. F., Kasarskis, E., Mozaffar, T., Nations, S., Swenson, A., Koczon-Jaremko, A., Christodoulou, G. & 1 others, Mitsumoto, H., 2018, In : Behavioural neurology. 2018, 5969137.

Research output: Contribution to journalArticle

4 Scopus citations

Low sensitivity of skin biopsy in diagnosing small fiber neuropathy in Chinese Americans

Jin, P., Cheng, L., Chen, M. & Zhou, L., Jan 1 2018, In : Journal of Clinical Neuromuscular Disease. 20, 1, p. 1-6 6 p.

Research output: Contribution to journalArticle

3 Scopus citations

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions

Rocha, M. C., Rosa, H. S., Grady, J. P., Blakely, E. L., He, L., Romain, N., Haller, R. G., Newman, J., McFarland, R., Ng, Y. S., Gorman, G. S., Schaefer, A. M., Tuppen, H. A., Taylor, R. W. & Turnbull, D. M., Jan 2018, In : Annals of Neurology. 83, 1, p. 115-130 16 p.

Research output: Contribution to journalArticle

10 Scopus citations

SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology

Castoro, R., Simmons, M., Ravi, V., Huang, D., Lee, C., Sergent, J., Zhou, L. & Li, J., Aug 1 2018, In : Neurology: Genetics. 4, 4, e255.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Skeletal Muscle Channelopathies

Phillips, L. T. & Trivedi, J. R., Jan 1 2018, (Accepted/In press) In : Neurotherapeutics.

Research output: Contribution to journalArticle

6 Scopus citations

α-smooth muscle actin is not a marker of fibrogenic cell activity in skeletal muscle fibrosis

Zhao, W., Wang, X., Sun, K. H. & Zhou, L., Jan 2018, In : PloS one. 13, 1, e0191031.

Research output: Contribution to journalArticle

6 Scopus citations

CCR2 deficiency does not provide sustained improvement of muscular dystrophy in mdx5cv mice

Zhao, W., Wang, X., Ransohoff, R. M. & Zhou, L., Jan 2017, In : FASEB Journal. 31, 1, p. 35-46 12 p.

Research output: Contribution to journalArticle

7 Scopus citations

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project

on behalf of the Mito Working Group Member Participants, May 1 2017, In : Journal of Inherited Metabolic Disease. 40, 3, p. 403-414 12 p.

Research output: Contribution to journalArticle

5 Scopus citations

Erratum to: Managing neurogenic orthostatic hypotension in a patient presenting with pure autonomic failure who later developed Parkinson disease

Gupta, F., Kremens, D., Vernino, S. & Karabin, B., Sep 9 2017, (Accepted/In press) In : Clinical Autonomic Research. p. 1 1 p.

Research output: Contribution to journalArticle

Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency

Preisler, N., Cohen, J., Vissing, C. R., Madsen, K. L., Heinicke, K., Sharp, L. J., Phillips, L., Romain, N., Park, S. Y., Newby, M., Wyrick, P., Mancias, P., Galbo, H., Vissing, J. & Haller, R. G., 2017, (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

5 Scopus citations

Managing supine hypertension in a patient with non-diabetic autonomic neuropathy receiving droxidopa for neurogenic orthostatic hypotension

Vernino, S., Lew, M. & Kremens, D., Jun 16 2017, (Accepted/In press) In : Clinical Autonomic Research. p. 1-3 3 p.

Research output: Contribution to journalArticle

Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy

Delaney, N. F., Sharma, R., Tadvalkar, L., Clish, C. B., Haller, R. G. & Mootha, V. K., Aug 1 2017, In : Proceedings of the National Academy of Sciences of the United States of America. 114, 31, p. 8402-8407 6 p.

Research output: Contribution to journalArticle

10 Scopus citations

Neurological autoantibody prevalence in epilepsy of unknown etiology

Dubey, D., Alqallaf, A., Hays, R., Freeman, M., Chen, K., Ding, K., Agostini, M. & Vernino, S., Apr 1 2017, In : JAMA Neurology. 74, 4, p. 397-402 6 p.

Research output: Contribution to journalArticle

56 Scopus citations
118 Scopus citations

Seronegative autoimmune autonomic neuropathy: a distinct clinical entity

Golden, E. P., Bryarly, M. A. & Vernino, S., Dec 26 2017, (Accepted/In press) In : Clinical Autonomic Research. p. 1-9 9 p.

Research output: Contribution to journalArticle

11 Scopus citations
2016

A randomized controlled trial of methotrexate for patients with generalized myasthenia gravis

Pasnoor, M., He, J., Herbelin, L., Burns, T. M., Nations, S., Bril, V., Wang, A. K., Elsheikh, B. H., Kissel, J. T., Saperstein, D., Shaibani, J. A., Jackson, C., Swenson, A., Howard, J. F., Goyal, N., David, W., Wicklund, M., Pulley, M., Becker, M., Mozaffar, T. & 7 others, Benatar, M., Pazcuzzi, R., Simpson, E., Rosenfeld, J., Dimachkie, M. M., Statland, J. M. & Barohn, R. J., Jul 5 2016, In : Neurology. 87, 1, p. 57-64 8 p.

Research output: Contribution to journalArticle

52 Scopus citations

A randomized trial of mexiletine in ALS

Weiss, M. D., Macklin, E. A., Simmons, Z., Knox, A. S., Greenblatt, D. J., Atassi, N., Graves, M., Parziale, N., Salameh, J. S., Quinn, C., Brown, R. H., Distad, J. B., Trivedi, J., Shefner, J. M., Barohn, R. J., Pestronk, A., Swenson, A. & Cudkowicz, M. E., Apr 19 2016, In : Neurology. 86, 16, p. 1474-1481 8 p.

Research output: Contribution to journalArticle

31 Scopus citations

A single amino acid substitution prevents recognition of a dominant human aquaporin-4 determinant in the context of HLA-DRB1-03:01 by a murine TCR

Arellano, B., Hussain, R., Miller-Little, W. A., Herndon, E., Lambracht-Washington, D., Eagar, T. N., Lewis, R., Healey, D., Vernino, S., Greenberg, B. M. & Stüve, O., Apr 2016, In : PloS one. 11, 4, e0152720.

Research output: Contribution to journalArticle

3 Scopus citations

Association between dietary intake and function in amyotrophic lateral sclerosis

Nieves, J. W., Gennings, C., Factor-Litvak, P., Hupf, J., Singleton, J., Sharf, V., Oskarsson, B., Filho, J. A. M. F., Sorenson, E. J., D'Amico, E., Goetz, R., Mitsumoto, H., Singleton, J., Beck, C. C., Merle, D., Shah, T., Kim, M. P., Lee, Y. W., Christodoulou, G., Dalton, K. & 74 others, Kidd, J., Gilbert, E., Kilty, M., Heitzman, D., Rodriguez, W., Hand, S., Washington, M., Spears, B., Burson, B., Bedlack, R. S., Grace, K., Boyette, C., Katz, J. S., Miller, R. G., Forshew, D., Beemsterboer, J., Harris, W., McCoy, S., Zayas-Bazan, T., Saephanh, C., Barohn, R. J., McVey, A. L., Dimachkie, M. M., Pasnoor, M., Wang, Y., Walsh, M., Herbelin, L., Miller, J., Anderson, K., Klingerman, S., Weis, D., Joyce, N., Lim, S., Cregan, M., Kasarskis, E. J., Vanderpool, K., Taylor, D., Thomas, S., King, J., Wells, R., Lomen-Hoerth, C., Murphy, J., Duong, Y. N., Robins, D., Villerme, C., Rollins, Y. D., Ringel, S. P., Quan, D., Whitethorn, E., Mozaffar, T., Wang, A. K., Martin, V., Minton, B., Tully, P., Davis, D., Thaisetthawatkul, P., Cowardin, C., Herstein, R., Swenson, A. J., Jimmeh-Fletcher, D., Olalde, H., Sieren, J., Nations, S. P., Elliott, J., Trivedi, J., Gorham, N., Shefner, J. M., Watson, M. L., Moore, J., Markis, K., Grosso, M., Andrews, J. A., Koczon-Jaremko, A. & Bowen, J., 2016, In : JAMA neurology. 73, 12, p. 1425-1432 8 p.

Research output: Contribution to journalArticle

23 Scopus citations

Autoimmunity-associated autonomic failure with sympathetic denervation

Goldstein, D. S., Holmes, C., Sullivan, P., Donadio, V., Isonaka, R., Zhong, E., Pourier, B., Vernino, S., Kopin, I. J. & Sharabi, Y., Nov 12 2016, (Accepted/In press) In : Clinical Autonomic Research. p. 1-6 6 p.

Research output: Contribution to journalArticle

8 Scopus citations