Neurology & Neurotherapeutics - NE Neuro Muscular Section

Research Output

2020

Autoimmune Autonomic Disorders

Vernino, S., Feb 1 2020, In : CONTINUUM Lifelong Learning in Neurology. 26, 1, p. 44-57 14 p.

Research output: Contribution to journalReview article

2 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

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

1 Scopus citations

Response to: Human papillomavirus (HPV) vaccine safety concerning POTS, CRPS and related conditions

the American Autonomic Society, Apr 1 2020, In : Clinical Autonomic Research. 30, 2, p. 183-184 2 p.

Research output: Contribution to journalLetter

2 Scopus citations
2019
2 Scopus citations

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
4 Scopus citations
2 Scopus citations

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

on behalf of the American Autonomic Society, Jan 1 2019, (Accepted/In press) In : Clinical Autonomic Research.

Research output: Contribution to journalArticle

Open Access
1 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

16 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
15 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
1 Scopus citations

Postural Orthostatic Tachycardia Syndrome: JACC Focus Seminar

Bryarly, M., Phillips, L. T., Fu, Q., Vernino, S. & Levine, B. D., Mar 19 2019, In : Journal of the American College of Cardiology. 73, 10, p. 1207-1228 22 p.

Research output: Contribution to journalReview article

9 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
2 Scopus citations
Open Access
6 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

8 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

1 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

Acute loss of iron–sulfur clusters results in metabolic reprogramming and generation of lipid droplets in mammalian cells

Crooks, D. R., Maio, N., Lane, A. N., Jarnik, M., Higashi, R. M., Haller, R. G., Yang, Y., Fan, T. W. M., Marston Linehan, W. & Rouault, T. A., May 25 2018, In : Journal of Biological Chemistry. 293, 21, p. 8297-8311 15 p.

Research output: Contribution to journalReview article

17 Scopus citations

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

13 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. 320, 22, p. 2344-2353 10 p.

Research output: Contribution to journalArticle

11 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

91 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

6 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

4 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., Jan 1 2018, In : Behavioural neurology. 2018, 5969137.

Research output: Contribution to journalArticle

2 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

8 Scopus citations

Rasagiline for amyotrophic lateral sclerosis: A randomized, controlled trial

The Rasagiline Investigators of the Muscle Study Group and Western ALS Consortium, Jan 1 2018, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

7 Scopus citations

Review of the Diagnosis and Treatment of Periodic Paralysis

Statland, J. M., Fontaine, B., Hanna, M. G., Johnson, N. E., Kissel, J. T., Sansone, V. A., Shieh, P. B., Tawil, R. N., Trivedi, J., Cannon, S. C. & Griggs, R. C., Apr 1 2018, In : Muscle and Nerve. 57, 4, p. 522-530 9 p.

Research output: Contribution to journalReview article

19 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
3 Scopus citations

Skeletal Muscle Channelopathies

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

Research output: Contribution to journalArticle

3 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 1 2018, In : PLoS One. 13, 1, e0191031.

Research output: Contribution to journalArticle

5 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

Clinical/scientific notes: ANCA-associated vasculitis predominantly presenting with severe myalgias

Bahou, E. & Zhou, L., Jan 1 2017, In : Neurology: Neuroimmunology and NeuroInflammation. 4, 4

Research output: Contribution to journalShort survey

1 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

Faciobrachial dystonic spells: Presenting feature of autoimmune encephalopathy

Dubey, D., Alqallaf, A., Warnack, W., Gupta, P., Harvey, J. & Vernino, S., Sep 1 2017, In : Neurology India. 65, 5, p. 1149-1151 3 p.

Research output: Contribution to journalLetter

Gradually progressive spastic ataxia in a young man steadily unsteady

Dubey, D., Khemani, P., Remster, E. & Elliott, J. L., Feb 1 2017, In : JAMA Neurology. 74, 2, p. 238-241 4 p.

Research output: Contribution to journalReview article

2 Scopus citations

Immune Myopathy with Perimysial Pathology Associated with Interstitial Lung Disease and Anti-EJ Antibodies

Kwon, P. M., Zhou, L., Motiwala, R., Kerr, L. D. & Shin, S. C., Jun 1 2017, In : Journal of Clinical Neuromuscular Disease. 18, 4, p. 223-227 5 p.

Research output: Contribution to journalReview article

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

Gupta, F., Kremens, D., Vernino, S. & Karabin, B., Jul 1 2017, In : Clinical Autonomic Research. 27, p. 9-11 3 p.

Research output: Contribution to journalLetter

3 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

6 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

52 Scopus citations