Neurology & Neurotherapeutics - NE Neuro Muscular Section

Research Output 1976 2019

2019
Immunotherapy
Epidemiology
Paraneoplastic Polyneuropathy
Neuromuscular Diseases
Autonomic Nervous System
Myasthenia Gravis
Internet
Fatigue
Quality of Life
Research
2 Citations (Scopus)

Eculizumab improves fatigue in refractory generalized myasthenia gravis

The REGAIN Study Group, Jan 1 2019, In : Quality of Life Research.

Research output: Contribution to journalArticle

Open Access
Myasthenia Gravis
Fatigue
Activities of Daily Living
Placebos
eculizumab
1 Citation (Scopus)
Plasma Exchange
Myasthenia Gravis
Autoantibodies
Antibodies
Cholinergic Receptors

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
Papillomavirus Vaccines
Vaccination
Postural Orthostatic Tachycardia Syndrome
Primary Dysautonomias
Fatigue

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

Papillomavirus Vaccines
Vaccination
Primary Dysautonomias
Fatigue
Postural Orthostatic Tachycardia Syndrome
5 Citations (Scopus)
Thymectomy
Myasthenia Gravis
Prednisone
National Institute of Neurological Disorders and Stroke
Edrophonium

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
Myasthenia Gravis
Safety
Meningococcal Infections
Muscles
Muscle Strength
Nervous System Diseases
Nervous System
Autoantibodies
Gastroparesis
Autoimmunity

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
Glycogen Storage Disease Type V
Exercise
Placebos
Citric Acid Cycle
Exercise Tolerance
2 Citations (Scopus)

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

Postural Orthostatic Tachycardia Syndrome
Orthostatic Intolerance
Differential Diagnosis
Education
Therapeutics

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
Body Surface Area
Exercise
Wounds and Injuries
Skeletal Muscle
Citrate (si)-Synthase
1 Citation (Scopus)
Diabetic Neuropathies
Magnetic Resonance Spectroscopy
Femoral Nerve
Sciatic Nerve
Obturator Nerve

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

Inclusion Body Myositis
Placebos
Safety
Walking
bimagrumab

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

Spinal Nerves
nerves
radiation therapy
Radiotherapy
swine

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. T., 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
Ambulatory Blood Pressure Monitoring
Blood Pressure
Sensitivity and Specificity
2018
11 Citations (Scopus)

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., Jan 1 2018, In : Journal of Biological Chemistry. 293, 21, p. 8297-8311 15 p.

Research output: Contribution to journalReview article

Citric Acid
Cells
Lipids
Fatty Acids
Iron

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

Carbamazepine
Peripheral Nervous System Diseases
Spinal Ganglia
Mutation
Neurons
6 Citations (Scopus)

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

Postural Orthostatic Tachycardia Syndrome
Autoimmunity
Sensory Receptor Cells
Autoantibodies
Immunotherapy
3 Citations (Scopus)

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

Mexiletine
Muscles
Placebos
Rare Diseases
Genotype
63 Citations (Scopus)

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

Kinesin
Genome
Mutation
Genes
Genome-Wide Association Study
4 Citations (Scopus)

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

Skeletal Muscle
Macrophages
Wounds and Injuries
Genes
Macrophage Activation
2 Citations (Scopus)

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., Jan 1 2018, (Accepted/In press) In : Movement Disorders Clinical Practice.

Research output: Contribution to journalArticle

Droxidopa
Orthostatic Hypotension
Parkinson Disease
Therapeutics
Placebos
3 Citations (Scopus)

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

Phenotype
Enzymes
Muscular Diseases
Phosphoglycerate Kinase
Exercise Test
2 Citations (Scopus)

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

Asian Americans
Nerve Fibers
Biopsy
Skin
Leg
4 Citations (Scopus)

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 1 2018, In : Annals of Neurology. 83, 1, p. 115-130 16 p.

Research output: Contribution to journalArticle

Mitochondrial DNA
Cytochrome-c Oxidase Deficiency
Mitochondrial Diseases
Biopsy
Skeletal Muscle
3 Citations (Scopus)

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

Amyotrophic Lateral Sclerosis
Randomized Controlled Trials
Placebos
Biomarkers
Monoamine Oxidase Inhibitors
11 Citations (Scopus)

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

Paralysis
Andersen Syndrome
Potassium
Hypokalemic Periodic Paralysis
Carbonic Anhydrase Inhibitors
2 Citations (Scopus)

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
Nociceptive Pain
Peripheral Nerves
Fibromyalgia
Pathology
Mutation
1 Citation (Scopus)

Skeletal Muscle Channelopathies

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

Research output: Contribution to journalArticle

Channelopathies
Skeletal Muscle
Rare Diseases
Paralysis
Myotonia
3 Citations (Scopus)

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

fibrosis
smooth muscle
actin
Smooth Muscle
Muscle
4 Citations (Scopus)

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

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

Research output: Contribution to journalArticle

CCR2 Receptors
Muscular Dystrophies
Diaphragms
Diaphragm
Genes

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

Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis
Myalgia
5 Citations (Scopus)

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

National Institute of Neurological Disorders and Stroke
Mitochondrial Diseases
Research
Common Data Elements
Information Dissemination

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

Pure Autonomic Failure
Orthostatic Hypotension
Licensure
Parkinson Disease
Publications

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

Brain Diseases
2 Citations (Scopus)

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

Neuroimaging
Spinocerebellar Degenerations
Neurologic Examination
Gait
Atrophy

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

Amino Acyl-tRNA Synthetases
Interstitial Lung Diseases
Muscular Diseases
Anti-Idiotypic Antibodies
Pathology
3 Citations (Scopus)

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

Phosphoglucomutase
Glycogen
Muscle
Glycogen Storage Disease Type V
Exercise
3 Citations (Scopus)

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

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

4 Citations (Scopus)

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

Glycogen Storage Disease Type V
Mitochondrial Myopathies
Metabolome
Exercise
Mitochondrial Diseases
42 Citations (Scopus)

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

Autoantibodies
Epilepsy
Glutamate Decarboxylase
Seizures
Antibodies
3 Citations (Scopus)
Droxidopa
Polypharmacy
Orthostatic Hypotension
Parkinsonian Disorders
Type 2 Diabetes Mellitus
64 Citations (Scopus)
Myasthenia Gravis
Cholinergic Receptors
Multicenter Studies
Placebos
Safety
9 Citations (Scopus)

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

Antibodies
Cholinergic Receptors
Immunotherapy
Steroids
Orthostatic Hypotension

The major histocompatibility complex and antibody-mediated limbic encephalitis

Stüve, O. & Vernino, S., Feb 1 2017, In : Annals of Neurology. 81, 2, p. 181-182 2 p.

Research output: Contribution to journalComment/debate

Limbic Encephalitis
Major Histocompatibility Complex
Antibodies
72 Citations (Scopus)

The recommendations of a consensus panel for the screening, diagnosis, and treatment of neurogenic orthostatic hypotension and associated supine hypertension

Gibbons, C. H., Schmidt, P., Biaggioni, I., Frazier-Mills, C., Freeman, R., Isaacson, S., Karabin, B., Kuritzky, L., Lew, M., Low, P., Mehdirad, A., Raj, S. R., Vernino, S. & Kaufmann, H., Jan 3 2017, (Accepted/In press) In : Journal of Neurology. p. 1-16 16 p.

Research output: Contribution to journalArticle

Orthostatic Hypotension
Consensus
Hypertension
Amyloid Neuropathies
Pure Autonomic Failure