Neurology & Neurotherapeutics - NE Neuro Muscular Section

Research output

Research output per year 1976 2003 2004 2007 2008 2009 2010 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 2022 2024

• 405 Article
• 64 Review article
• 22 Chapter
• 18 Letter
• 29 More
  • 16 Editorial
  • 11 Comment/debate
  • 1 Conference contribution
  • 1 Short survey

Research output per year

Research output per year

Search results

• 211th ENMC International Workshop:: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17–19 April 2015, Naarden, The Netherlands

  Workshop Participants, Dec 2017, In: Neuromuscular Disorders. 27, 12, p. 1143-1151 9 p.

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

  Open Access
  8 Scopus citations

• 68-year-old woman with dyspnea and chest pain

  Vernino, S. A. & Moder, K. G., 1996, In: Mayo Clinic Proceedings. 71, 5, p. 485-488 4 p.

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

  Open Access
  1 Scopus citations

• Abnormal high-energy phosphate metabolism in human muscle phosphofructokinase deficiency

  Bertocci, L. A., Haller, R. G., Lewis, S. F., Fleckenstein, J. L. & Nunnally, R. L., 1991, In: Journal of applied physiology. 70, 3, p. 1201-1207 7 p.

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

  • Glycogen Storage Disease Type VII 100%
  • Phosphofructokinases 73%
  • Energy Metabolism 47%
  • Phosphates 45%
  • Healthy Volunteers 25%
  24 Scopus citations

• Abnormal oxidative metabolism and O₂ transport in muscle phosphofructokinase deficiency

  Lewis, S. F., Vora, S. & Haller, R. G., 1991, In: Journal of applied physiology. 70, 1, p. 391-398 8 p.

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

  • Glycogen Storage Disease Type VII 100%
  • Phosphofructokinases 36%
  • Muscles 31%
  • Glycogen 27%
  • Carnitine O-Palmitoyltransferase 24%
  28 Scopus citations

• Abnormal ventilation during exercise in McArdle’s syndrome: Modulation by substrate availability

  Haller, R. G. & Lewis, S. F., May 1986, In: Neurology. 36, 5, p. 716-719 4 p.

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

  • Glycogen Storage Disease Type V 100%
  • Ventilation 54%
  • Exercise 39%
  • Muscle Form Glycogen Phosphorylase 18%
  • Fasting 16%
  16 Scopus citations

• Absence of exercise-induced MRI enhancement of skeletal muscle in McArdle's disease

  Fleckenstein, J. L., Haller, R. G., Lewis, S. F., Archer, B. T., Barker, B. R., Payne, J., Parkey, R. W. & Peshock, R. M., 1991, In: Journal of applied physiology. 71, 3, p. 961-969 9 p.

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

  • Glycogen Storage Disease Type V 100%
  • Skeletal Muscle 48%
  • Magnetic Resonance Imaging 40%
  • Exercise 39%
  • Muscles 36%
  84 Scopus citations

• Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle

  Grady, J. P., Murphy, J. L., Blakely, E. L., Haller, R. G., Taylor, R. W., Turnbull, D. M. & Tuppen, H. A. L., Dec 4 2014, In: PloS one. 9, 12, e114462.

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

  • Mitochondrial DNA 100%
  • Skeletal Muscle 75%
  • Real-Time Polymerase Chain Reaction 18%
  • Mitochondrial Diseases 14%
  • DNA 13%
  48 Scopus citations

• A comparison of health-related quality of life in autonomic disorders: postural tachycardia syndrome versus vasovagal syncope

  Hall, J., Bourne, K. M., Sheldon, R. S., Vernino, S., Raj, V., Ng, J., Okamoto, L. E., Arnold, A. C., Bryarly, M., Phillips, L., Paranjape, S. Y. & Raj, S. R., Jun 2021, In: Clinical Autonomic Research. 31, 3, p. 433-441 9 p.

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

  Open Access

  • Postural Orthostatic Tachycardia Syndrome 100%
  • Vasovagal Syncope 89%
  • Quality of Life 40%
  • Health 18%
  • Orthostatic Intolerance 9%
  7 Scopus citations

• Acute skeletal muscle injury: CCL2 expression by both monocytes and injured muscle is required for repair

  Lu, H., Huang, D., Ransohoff, R. M. & Zhou, L., Oct 2011, In: FASEB Journal. 25, 10, p. 3344-3355 12 p.

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

  Open Access

  • CC Chemokines 100%
  • Monocytes 65%
  • Skeletal Muscle 62%
  • Ligands 55%
  • Muscles 47%
  177 Scopus citations

• A diagnostic cycle test for McArdle's disease

  Vissing, J. & Haller, R. G., Oct 1 2003, In: Annals of Neurology. 54, 4, p. 539-542 4 p.

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

  • Glycogen Storage Disease Type V 100%
  • Routine Diagnostic Tests 58%
  • Heart Rate 33%
  • Workload 30%
  • Exercise 29%
  82 Scopus citations

• Adult polyglucosan body disease associated with Lewy bodies and tremor

  Trivedi, J. R., Wolfe, G. I., Nations, S. P., Burns, D. K., Bryan, W. W. & Dewey, R. B., May 1 2003, In: Archives of neurology. 60, 5, p. 764-766 3 p.

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

  • Adult Form Polyglucosan Body Disease 100%
  • polyglucosan 77%
  • Lewy Bodies 66%
  • Tremor 54%
  • Substantia Nigra 15%
  21 Scopus citations

• Aerobic conditioning: An effective therapy in McArdle's disease

  Haller, R. G., Wyrick, P., Taivassalo, T. & Vissing, J., Jun 2006, In: Annals of Neurology. 59, 6, p. 922-928 7 p.

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

  • Glycogen Storage Disease Type V 100%
  • Exercise 39%
  • Citrate (si)-Synthase 27%
  • Coenzyme A 25%
  • Creatine Kinase 21%
  127 Scopus citations

• Aerobic conditioning in patients with mitochondrial myopathies: Physiological, biochemical, and genetic effects

  Taivassalo, T., Shoubridge, E. A., Chen, J., Kennaway, N. G., Dimauro, S., Arnold, D. L. & Haller, R. G., 2001, In: Annals of Neurology. 50, 2, p. 133-141 9 p.

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

  • Mitochondrial Myopathies 100%
  • Molecular Biology 55%
  • Mitochondrial Size 24%
  • Electron Transport Complex III 24%
  • Genome 23%
  167 Scopus citations

• Aggregate formation in Cu,Zn superoxide dismutase-related proteins

  Son, M., Cloyd, C. D., Rothstein, J. D., Rajendran, B. & Elliott, J. L., Apr 18 2003, In: Journal of Biological Chemistry. 278, 16, p. 14331-14336 6 p.

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

  • Superoxide Dismutase-1 100%
  • Copper 79%
  • Superoxide 77%
  • Mutation 66%
  • Protein 32%
  36 Scopus citations

• Aggregate formation in the spinal cord of mutant SOD1 transgenic mice is reversible and mediated by proteasomes

  Puttaparthi, K., Wojcik, C., Rajendran, B., DeMartino, G. N. & Elliott, J. L., Nov 2003, In: Journal of Neurochemistry. 87, 4, p. 851-860 10 p.

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

  • Cord 100%
  • Proteasome Endopeptidase Complex 84%
  • Transgenic Mice 72%
  • Spinal Cord 66%
  • Amyotrophic lateral sclerosis 1 13%
  60 Scopus citations

• A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

  Tyynismaa, H., Ylikallio, E., Patel, M., Molnar, M. J., Haller, R. G. & Suomalainen, A., Aug 14 2009, In: American Journal of Human Genetics. 85, 2, p. 290-295 6 p.

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

  • Chronic Progressive External Ophthalmoplegia 100%
  • Mitochondrial DNA 68%
  • Mutation 36%
  • Ribonucleotide Reductases 30%
  • Chromosomes 17%
  105 Scopus citations

• A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: Are two mutations better than one?

  Swalwell, H., Blakely, E. L., Sutton, R., Tonska, K., Elstner, M., He, L., Taivassalo, T., Burns, D. K., Turnbull, D. M., Haller, R. G., Davidson, M. M. & Taylor, R. W., 2008, In: European Journal of Human Genetics. 16, 10, p. 1265-1274 10 p.

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

  • Mitochondrial DNA 100%
  • Phenotype 57%
  • Mutation 53%
  • RNA, Transfer, Ser 35%
  • Transfer RNA 34%
  32 Scopus citations

• Alcoholic rhabdomyolysis: An experimental model in the rat

  Haller, R. G. & Drachman, D. B., 1980, In: Science. 208, 4442, p. 412-414 3 p.

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

  • Rhabdomyolysis 100%
  • Theoretical Models 65%
  • Fasting 64%
  • Alcohols 60%
  • Skeletal Muscle 42%
  44 Scopus citations

• A "lipid myopathy" associated with a hyperkinetic circulatory response to exercise.

  Haller, R. G., Cook, J. D., Lewis, S. & Blomqvist, C. G., 1979, In: Transactions of the American Neurological Association. 104, p. 117-119 3 p.

  Research output: Contribution to journal › Article › peer-review
  2 Scopus citations

• ALS Multicenter Cohort Study of Oxidative Stress (ALS COSMOS): Study methodology, recruitment, and baseline demographic and disease characteristics

  Mitsumoto, H., Factor-Litvak, P., Andrews, H., Goetz, R. R., Andrews, L., Rabkin, J. G., Mcelhiney, M., Nieves, J., Santella, R. M., Murphy, J., Hupf, J., Singleton, J., Merle, D., Kilty, M., Heitzman, D., Bedlack, R. S., Miller, R. G., Katz, J. S., Forshew, D., Barohn, R. J., & 12 othersSorenson, E. J., Oskarsson, B., Fernandes Filho, J. A. M., Kasarskis, E. J., Lomen-Hoerth, C., Mozaffar, T., Rollins, Y. D., Nations, S. P., Swenson, A. J., Shefner, J. M., Andrews, J. A. & Koczon-Jaremko, B. A., Jun 2014, In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 15, 3-4, p. 192-203 12 p.

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

  Open Access

  • Multicenter Studies 100%
  • Oxidative Stress 84%
  • Cohort Studies 78%
  • Demography 74%
  • Health Insurance 30%
  31 Scopus citations

• A modular NIRS system for clinical measurement of impaired skeletal muscle oxygenation

  Wariar, R., Gaffke, J. N., Haller, R. G. & Bertocci, L. A., Jan 2000, In: Journal of applied physiology. 88, 1, p. 315-325 11 p.

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

  • Near-Infrared Spectroscopy 100%
  • Hemoglobins 67%
  • Skeletal Muscle 66%
  • deoxymyoglobin 56%
  • oxymyoglobin 54%
  32 Scopus citations

• Amyotrophic lateral sclerosis: An emerging era of collaboratie gene discovery

  Gwinn, K., Corriveau, R. A., Mitsumoto, H., Bednarz, K., Brown, R. H., Cudkowicz, M., Gordon, P. H., Hardy, J., Kasarskis, E. J., Kaufmann, P., Miller, R., Sorenson, E., Tandan, R., Traynor, B. J., Nash, J., Sherman, A., Mailman, M. D., Ostell, J., Bruijn, L., Cwik, V., & 69 othersRich, S. S., Singleton, A., Refolo, L., Andrews, J., Zhang, R., Conwit, R., Keller, M. A., Lomen-Hoerth, C., Simmons, Z., Newman, D. S., Barohn, R. J., Crum, B., Stevens, J. C., Simpson, E. P., Boylan, K. B., McCluskey, L., Bedlack, R. S., Bosch, E. P., Barkhaus, P. E., Dibernardo, A., Caress, J. B., Lacomis, D., Pestronk, A., Shefner, J. M., Maragakis, N. J., Heitzman, D., Goslin, K. L., Jackson, C. E., Glass, J. D., Mozaffar, T., Bertorini, T. E., Chad, D. A., Trivedi, J. R., Rezania, K., Heiman-Patterson, T. D., Gutmann, L., Rosenfeld, J., Brooks, B. R., Hayat, G., Chapin, J. E., Rudnicki, S. A., Harati, Y., Rana, S. S., Verma, A., Russell, J. A., Pioro, E. P., Thornton, C. A., Sams, L., Kelly, J., Bayat, E., Kelkar, P. M., Shivapour, E. T., Scelsa, S. N., Walk, D., Peltier, A. C., Sachs, G., Belsh, J. M., Graves, M. C., Thakore, N. J., Brent, H. T., Cho, C., Wymer, J. P., Lou, J. S., Weiss, M. D., Carter, G. S., Armon, C., Vidic, T. R., Bromberg, M. B. & Lange, D. J., Dec 5 2007, In: PloS one. 2, 12, e1254.

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

  • Amyotrophic Lateral Sclerosis 100%
  • Genetic Association Studies 99%
  • Motor Neuron Disease 58%
  • Single Nucleotide Polymorphism 39%
  • Genome 31%
  15 Scopus citations

• A new category of autoinflammatory disease associated with NOD2 gene mutations

  Yao, Q., Zhou, L., Cusumano, P., Bose, N., Piliang, M., Jayakar, B., Su, L. C. & Shen, B., Sep 14 2011, In: Arthritis Research and Therapy. 13, 5, R148.

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

  Open Access

  • Nucleotides 100%
  • Mutation 69%
  • Genes 49%
  • Autoantibodies 42%
  • Fever 34%
  58 Scopus citations

• An interactive voice response diary for patients with Non-dystrophic myotonia

  Statland, J. M., Wang, Y., Richesson, R., Bundy, B., Herbelin, L., Gomes, J., Trivedi, J., Venance, S., Amato, A., Hanna, M., Griggs, R. & Barohn, R. J., Jul 1 2011, In: Muscle and Nerve. 44, 1, p. 30-35 6 p.

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

  • Myotonia 100%
  • Diaries 72%
  • Mexiletine 25%
  • Chloride Channels 21%
  • Sodium Channels 20%
  25 Scopus citations

• ANNA-3 anti-neuronal nuclear antibody: Marker of lung cancer-related autoimmunity

  Chan, K. H., Vernino, S. & Lennon, V. A., 2001, In: Annals of Neurology. 50, 3, p. 301-311 11 p.

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

  • Podocytes 100%
  • Small Cell Carcinoma 99%
  • Autoimmunity 79%
  • Lung Neoplasms 64%
  • Purkinje Cells 61%
  162 Scopus citations

• A nonischemic forearm exercise test for McArdle disease

  Kazemi-Esfarjani, P., Skomorowska, E., Jensen, T. D., Haller, R. G. & Vissing, J., 2002, In: Annals of Neurology. 52, 2, p. 153-159 7 p.

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

  Open Access

  • Glycogen Storage Disease Type V 100%
  • Exercise Test 59%
  • Forearm 59%
  • Dimauro disease 54%
  • Muscle Cramp 34%
  92 Scopus citations

• A novel gain-of-function Na_v1.7 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., Nov 1 2018, In: Molecular Pain. 14

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

  Open Access

  • Painful Neuropathy 100%
  • Gain of Function Mutation 87%
  • Carbamazepine 75%
  • Peripheral Nervous System Diseases 69%
  • Spinal Ganglia 57%
  6 Scopus citations

• 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 journal › Article › peer-review

  • Vacuolar myopathy 100%
  • Muscular Diseases 61%
  • Vacuoles 60%
  • Heat-Shock Proteins 59%
  • Distal Myopathies 46%
  14 Scopus citations

• Antibodies to muscle and ganglionic acetylcholine receptors (AchR) in celiac disease

  Briani, C., Doria, A., Ruggero, S., Toffanin, E., Luca, M., Albergoni, M. P., D'Odorico, A., Grassivaro, F., Lucchetta, M., De Lazzari, F., Balzani, I., Battistin, L. & Vernino, S., Feb 2008, In: Autoimmunity. 41, 1, p. 100-104 5 p.

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

  • Celiac Disease 100%
  • Cholinergic Receptors 99%
  • Muscles 54%
  • Antibodies 50%
  • Systemic Lupus Erythematosus 25%
  19 Scopus citations

• Antibody-mediated impairment and homeostatic plasticity of autonomic ganglionic synaptic transmission

  Wang, Z., Low, P. A. & Vernino, S., Mar 2010, In: Experimental Neurology. 222, 1, p. 114-119 6 p.

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

  • Synaptic Potentials 100%
  • Cholinergic Receptors 87%
  • Synaptic Transmission 74%
  • Antibodies 43%
  • Superior Cervical Ganglion 25%
  32 Scopus citations

• Antibody Testing for Neurological Autoimmune Disorders: Evaluation of Best Practices at a Tertiary Referral Center

  Fredrich, S. E., Vernino, S. & Blackburn, K. M., Jun 30 2021, In: Frontiers in Neurology. 12, 690415.

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

  Open Access

  • Nervous System Diseases 100%
  • Practice Guidelines 99%
  • Tertiary Care Centers 93%
  • Antibodies 59%
  • Clinical Decision-Making 56%
  2 Scopus citations

• Anti-neuronal antibodies in acute pandysautonomia

  Matsui, N., Mitsui, T., Ohshima, Y., Yokoi, K., Kunishige, M., Yagi, F., Vernino, S., Matsumoto, T. & Kaji, R., 2010, In: Internal Medicine. 49, 1, p. 73-77 5 p.

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

  • Anti-Idiotypic Antibodies 100%
  • Antibodies 65%
  • Gangliosides 48%
  • Plasma Exchange 48%
  • Passive Immunization 47%
  8 Scopus citations

• A Qualitative Examination of COVID-19’s Impacts on Physical Activity and Perceptions of Remote Delivery Interventions

  Brannon, G. E., Mitchell, S., Ray, M. A., Bhai, S., Beg, M. S., Basen-Engquist, K. M. & Liao, Y., Mar 2022, In: American Journal of Health Promotion. 36, 3, p. 472-476 5 p.

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

  • Exercise 100%
  • examination 88%
  • Motivation 41%
  • Social Responsibility 40%
  • Pandemics 36%
  3 Scopus citations

• A quantitative measure of handgrip myotonia in non-dystrophic myotonia

  Statland, J. M., Bundy, B. N., Wang, Y., Trivedi, J. R., Raja Rayan, D., Herbelin, L., Donlan, M., McLin, R., Eichinger, K. J., Findlater, K., Dewar, L., Pandya, S., Martens, W. B., Venance, S. L., Matthews, E., Amato, A. A., Hanna, M. G., Griggs, R. C. & Barohn, R. J., Oct 2012, In: Muscle and Nerve. 46, 4, p. 482-489 8 p.

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

  Open Access

  • Myotonia 100%
  • Mutation 33%
  • Chloride Channels 21%
  • Sodium Channels 20%
  • Clinical Trials 11%
  16 Scopus citations

• A Randomized Clinical Trial to Assess the Effect of Statins on Skeletal Muscle Function and Performance: Rationale and Study Design

  Thompson, P. D., Parker, B. A., Clarkson, P. M., Pescatello, L. S., Michael White, C., Grimaldi, A. S., Levine, B. D., Haller, R. G. & Hoffman, E. P., Jun 2010, In: Preventive Cardiology. 13, 3, p. 104-111 8 p.

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

  • Clinical Trials 100%
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors 92%
  • Skeletal Muscle 75%
  • Randomized Controlled Trials 64%
  • medication 61%
  32 Scopus citations

• 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 othersBenatar, 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 journal › Article › peer-review

  Open Access

  • Myasthenia Gravis 100%
  • Methotrexate 83%
  • Randomized Controlled Trials 57%
  • Prednisone 43%
  • Placebos 35%
  98 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 journal › Article › peer-review

  Open Access

  • Mexiletine 100%
  • Muscle Cramp 50%
  • Placebos 46%
  • Amyotrophic lateral sclerosis 1 25%
  • Vital Capacity 20%
  70 Scopus citations

• A secondary analysis of PAIN-CONTRoLS: Pain's impact on sleep, fatigue, and activities of daily living

  the PAIN-CONTRoLS Study Team, Oct 2022, In: Muscle and Nerve.

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

  Open Access

  • Mexiletine 100%
  • Nortriptyline 76%
  • Duloxetine Hydrochloride 75%
  • Activities of Daily Living 66%
  • Polyneuropathies 63%
  1 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 journal › Article › peer-review

  Open Access

  • HLA-DRB1*03:01 antigen 100%
  • Aquaporin 4 76%
  • aquaporins 67%
  • Amino Acid Substitution 60%
  • amino acid substitution 60%
  6 Scopus citations

• Assessing the role of immuno-proteasomes in a mouse model of familial ALS

  Puttaparthi, K., Van Kaer, L. & Elliott, J. L., Jul 2007, In: Experimental Neurology. 206, 1, p. 53-58 6 p.

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

  • Proteasome Endopeptidase Complex 100%
  • LMP-2 protein 25%
  • Transgenic Mice 24%
  • Spinal Cord 22%
  • Protein Aggregates 17%
  17 Scopus citations

• Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q

  Kwon, J. M., Elliott, J. L., Yee, W. C., Ivanovich, J., Scavarda, N. J., Moolsintong, P. J. & Goodfellow, P. J., 1995, In: American Journal of Human Genetics. 57, 4, p. 853-858 6 p.

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

  • Charcot-Marie-Tooth Disease 100%
  • Chromosomes 87%
  • Tooth 79%
  • Type 2B Charcot-Marie-Tooth disease 74%
  • Chromosomes, Human, Pair 1 45%
  156 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 othersKidd, 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., Dec 1 2016, In: JAMA neurology. 73, 12, p. 1425-1432 8 p.

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

  Open Access

  • Amyotrophic Lateral Sclerosis 100%
  • Vital Capacity 40%
  • Carotenoids 33%
  • Nutrients 31%
  • Antioxidants 20%
  71 Scopus citations

• Association of N-type calcium channel autoimmunity in patients with autoimmune autonomic ganglionopathy

  Kimpinski, K., Iodice, V., Vernino, S., Sandroni, P. & Low, P. A., Oct 5 2009, In: Autonomic Neuroscience: Basic and Clinical. 150, 1-2, p. 136-139 4 p.

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

  • N-Type Calcium Channels 100%
  • Autoimmunity 63%
  • Autoantibodies 40%
  • Antibodies 36%
  • Orthostatic Hypotension 27%
  24 Scopus citations

• Ataxia and weakness in a young woman

  Beh, S. C., Nations, S., Pascual, J. M. & Vernino, S., Jul 2012, In: Archives of neurology. 69, 7, p. 924-927 4 p.

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

  • Ataxia 100%
  • History of Disease 67%
  • Laboratory Studies 65%
  • Differential Diagnosis 60%
  • Neuroimaging 56%
  2 Scopus citations

• A unique manifestation of pupillary fatigue in autoimmune autonomic ganglionopathy

  Muppidi, S., Scribner, M., Gibbons, C. H., Adams-Huet, B., Spaeth, E. B. & Vernino, S., May 2012, In: Archives of neurology. 69, 5, p. 644-648 5 p.

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

  • Fatigue 100%
  • Manifestation 64%
  • Light 42%
  • Stimulus 32%
  • Pupil 18%
  18 Scopus citations

• Autoantibodies to ganglionic acetylcholine receptors in autoimmune autonomic neukopathies

  Vernino, S., Low, P. A., Fealey, R. D., Stewart, J. D., Farrugia, G. & Lennon, V. A., Sep 21 2000, In: New England Journal of Medicine. 343, 12, p. 847-855 9 p.

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

  • Cholinergic Receptors 100%
  • Autoantibodies 83%
  • Antibodies 50%
  • Paraneoplastic Polyneuropathy 45%
  • Primary Dysautonomias 38%
  597 Scopus citations

• Autoantibody profiles and neurological correlations of thymoma

  Vernino, S. & Lennon, V. A., Nov 1 2004, In: Clinical Cancer Research. 10, 21, p. 7270-7275 6 p.

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

  • Thymoma 100%
  • Autoantibodies 76%
  • Cholinergic Receptors 40%
  • Nervous System Diseases 34%
  • Myasthenia Gravis 32%
  175 Scopus citations

• Autoimmune and Paraneoplastic Channelopathies

  Vernino, S., Apr 2007, In: Neurotherapeutics. 4, 2, p. 305-314 10 p.

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

  • Channelopathies 100%
  • Antibodies 39%
  • Ion Channels 31%
  • Cholinergic Receptors 14%
  • Nervous System Diseases 12%
  44 Scopus citations

• Autoimmune autonomic failure

  Muppidi, S. & Vernino, S., 2013, In: Handbook of Clinical Neurology. 117, p. 321-327 7 p.

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

  • Antibodies 100%
  • Cholinergic Receptors 79%
  • Orthostatic Hypotension 45%
  • Plasma Exchange 43%
  • Urinary Retention 42%
  18 Scopus citations

• Autoimmune autonomic ganglionopathy

  Winston, N. & Vernino, S., 2009, In: Frontiers of Neurology and Neuroscience. 26, p. 85-93 9 p.

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

  • Tonic Pupil 100%
  • Autonomic Nervous System Diseases 94%
  • Parasympathetic Ganglia 83%
  • Sympathetic Ganglia 75%
  • Orthostatic Hypotension 72%
  11 Scopus citations