Robert Bucelli

Research output

Research output per year 2001 2015 2016 2018 2019 2020 2021 2022 2023

• 59 Article
• 7 Comment/debate
• 7 Review article
• 4 Chapter
• 2 More
  • 2 Letter

Research output per year

Research output per year

Search results

• 2023

  Lumbar punctures are safe in patients with ALS and have a risk profile similar to that in the non-ALS population

  Kreple, C. J., Gajagowni, S., Jockel-Balsaratti, J., Bucelli, R. C. & Miller, T. M., Nov 2023, In: Muscle and Nerve. 68, 5, p. 771-775 5 p.

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

  Open Access

  • Motor Neuron Disease 100%
  • Spinal Puncture 95%
  • Amyotrophic Lateral Sclerosis 85%
  • Population 31%
  • Cerebrospinal Fluid 17%

• Protein kinetics of superoxide dismutase-1 in familial and sporadic amyotrophic lateral sclerosis

  Ly, C. V., Ireland, M. D., Self, W. K., Bollinger, J., Jockel-Balsarotti, J., Herzog, H., Allred, P., Miller, L., Doyle, M., Anez-Bruzual, I., Trikamji, B., Hyman, T., Kung, T., Nicholson, K., Bucelli, R. C., Patterson, B. W., Bateman, R. J. & Miller, T. M., Jun 2023, In: Annals of Clinical and Translational Neurology. 10, 6, p. 1012-1024 13 p.

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

  Open Access

  • Amyotrophic lateral sclerosis 1 100%
  • Superoxide Dismutase-1 94%
  • Kinetics 54%
  • Proteins 27%
  • Protein Stability 24%
  1 Scopus citations

• Real-time quaking-induced conversion assays for prions: Applying a sensitive but imperfect test in clinical practice

  Jones, S. M., Lazar, E. B., Porter, A. L., Prusinski, C. C., Brier, M. R., Bucelli, R. C. & Day, G. S., Jul 2023, In: European Journal of Neurology. 30, 7, p. 1854-1860 7 p.

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

  • Prions 100%
  • Prion Diseases 36%
  • Cerebrospinal Fluid 25%
  • 14-3-3 Proteins 10%
  • Cell Count 5%
  1 Scopus citations

• Schwann cells and myelin in human peripheral nerve: Major protein components vary with age, axon size and pathology

  Pestronk, A., Schmidt, R. E., Bucelli, R. & Sim, J., Apr 2023, In: Neuropathology and Applied Neurobiology. 49, 2, e12898.

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

  • Neural Cell Adhesion Molecules 100%
  • Schwann Cells 94%
  • Myelin Basic Protein 92%
  • Myelin Sheath 86%
  • Peripheral Nerves 82%
  1 Scopus citations
• 2022

  Correction to: Design of a Randomized, Placebo-Controlled, Phase 3 Trial of Tofersen Initiated in Clinically Presymptomatic SOD1 Variant Carriers: the ATLAS Study (Neurotherapeutics, (2022), 19, 4, (1248-1258), 10.1007/s13311-022-01237-4)

  Benatar, M., Wuu, J., Andersen, P. M., Bucelli, R. C., Andrews, J. A., Otto, M., Farahany, N. A., Harrington, E. A., Chen, W., Mitchell, A. A., Ferguson, T., Chew, S., Gedney, L., Oakley, S., Heo, J., Chary, S., Fanning, L., Graham, D., Sun, P., Liu, Y., & 2 othersWong, J. & Fradette, S., Sep 2022, In: Neurotherapeutics. 19, 5, p. 1686 1 p.

  Research output: Contribution to journal › Comment/debate

  Open Access

  • Placebos 100%
  2 Scopus citations

• Design of a Randomized, Placebo-Controlled, Phase 3 Trial of Tofersen Initiated in Clinically Presymptomatic SOD1 Variant Carriers: the ATLAS Study

  Benatar, M., Wuu, J., Andersen, P. M., Bucelli, R. C., Andrews, J. A., Otto, M., Farahany, N. A., Harrington, E. A., Chen, W., Mitchell, A. A., Ferguson, T., Chew, S., Gedney, L., Oakley, S., Heo, J., Chary, S., Fanning, L., Graham, D., Sun, P., Liu, Y., & 2 othersWong, J. & Fradette, S., Jul 2022, In: Neurotherapeutics. 19, 4, p. 1248-1258 11 p.

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

  Open Access

  • Superoxide Dismutase-1 100%
  • Amyotrophic Lateral Sclerosis 84%
  • Placebos 54%
  • Intermediate Filaments 21%
  • Light 13%
  40 Scopus citations

• Incidence of amyotrophic lateral sclerosis in older adults

  Camacho-Soto, A., Searles Nielsen, S., Faust, I. M., Bucelli, R. C., Miller, T. M. & Racette, B. A., Sep 2022, In: Muscle and Nerve. 66, 3, p. 289-296 8 p.

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

  • Amyotrophic Lateral Sclerosis 100%
  • Incidence 45%
  • Medicare 41%
  • Neurologists 29%
  • Survival 14%
  2 Scopus citations

• Interpreting Electrodiagnostic Studies for the Management of Nerve Injury

  Pripotnev, S., Bucelli, R. C., Patterson, J. M. M., Yee, A., Pet, M. A. & Mackinnon, S., Sep 2022, In: Journal of Hand Surgery. 47, 9, p. 881-889 9 p.

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

  • Wounds and Injuries 100%
  • Surgeons 48%
  • Wallerian Degeneration 48%
  • Nerve Regeneration 41%
  • Neural Conduction 38%
  2 Scopus citations

• Location-atypical lesions in non-ketotic hyperglycemic epilepsy: expanding the clinico-radiographic phenotype

  Amar, J. Y., Bhattacharya, A. K., Uzo-Okereke, A. M., Chou, C. A., Vo, K. D., Goyal, M. S. & Bucelli, R. C., Dec 2022, In: Epileptic Disorders. 24, 6, p. 1102-1109 8 p.

  Research output: Contribution to journal › Comment/debate

  • Hyperglycemia 100%
  • Epilepsy 92%
  • Phenotype 66%
  • Neurologists 48%
  • Seizures 33%

• Prevalence of Surgical Procedures at Symptomatic Onset of Prion Disease

  Porter, A. L., Prusinski, C. C., Lazar, E., Yuh, C., Bucelli, R. C., Appleby, B. S. & Day, G. S., Mar 9 2022, In: JAMA Network Open. 5, 3, e221556.

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

  Open Access
  4 Scopus citations

• Septin-5 and -7-IgGs: Neurologic, Serologic, and Pathophysiologic Characteristics

  Hinson, S. R., Honorat, J. A., Grund, E. M., Clarkson, B. D., Miske, R., Scharf, M., Zivelonghi, C., Al-Lozi, M. T., Bucelli, R. C., Budhram, A., Cho, T., Choi, E., Grell, J., Lopez-Chiriboga, A. S., Levin, M., Merati, M., Montalvo, M., Pittock, S. J., Wilson, M. R., Howe, C. L., & 1 othersMcKeon, A., Dec 2022, In: Annals of neurology. 92, 6, p. 1090-1101 12 p.

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

  • Septins 100%
  • Nervous System 53%
  • Immunoglobulin G 20%
  • Apathy 14%
  • Neurons 13%
  6 Scopus citations

• Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

  VALOR and OLE Working Group, Sep 22 2022, In: New England Journal of Medicine. 387, 12, p. 1099-1110 12 p.

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

  Open Access

  • Superoxide Dismutase-1 100%
  • Antisense Oligonucleotides 91%
  • Amyotrophic Lateral Sclerosis 84%
  • Placebos 38%
  • Intermediate Filaments 24%
  132 Scopus citations

• Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome

  King, K. A., Wegner, D. J., Bucelli, R. C., Shapiro, J., Paul, A. J., Dickson, P. I. & Wambach, J. A., Dec 1 2022, In: Neurology: Genetics. 8, 6, e200036.

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

  Open Access

  • Genome 100%
  • DNA 82%
  • Bilateral Vestibulopathy 80%
  • Complementary DNA 79%
  • Complementary RNA 64%
  1 Scopus citations
• 2021

  Acute and chronic immune neuropathies and radiculopathies

  Wilks, A. W. & Bucelli, R. C., Apr 9 2021, Neuroimmunology: Multiple Sclerosis, Autoimmune Neurology and Related Diseases. Springer International Publishing, p. 281-308 28 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

  • Radiculopathy 100%
  • Intravenous Immunoglobulins 26%
  • Hereditary Sensory and Motor Neuropathy 18%
  • POEMS Syndrome 18%
  • Guillain-Barre Syndrome 14%

• A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome

  Abreu, D., Stone, S. I., Pearson, T. S., Bucelli, R. C., Simpson, A. N., Hurst, S., Brown, C. M., Kries, K., Onwumere, C., Gu, H., Hoekel, J., Tychsen, L., van Stavern, G. P., White, N. H., Marshall, B. A., Hershey, T. & Urano, F., Aug 9 2021, In: JCI Insight. 6, 15, e145188.

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

  Open Access

  • Wolfram Syndrome 100%
  • Dantrolene 85%
  • Clinical Trials 39%
  • Visual Acuity 13%
  • Isoprostanes 11%
  20 Scopus citations

• Awake spinal surgery: where we are now and where we are going

  Ray, W. Z., Falavigna, A., Mummaneni, P. V. & Bucelli, R. C., Dec 2021, In: Neurosurgical focus. 51, 6, E1.

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

  Open Access
  2 Scopus citations

• Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)

  Rosano, K. K., Wegner, D. J., Shinawi, M., Baldridge, D., Bucelli, R. C., Dahiya, S., White, F. V., Willing, M. C., McAllister, W., Taft, R. J., Bluske, K., Buchanan, A., Cole, F. S. & Wambach, J. A., Jul 2021, In: American Journal of Medical Genetics, Part A. 185, 7, p. 2190-2197 8 p.

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

  • Arthrogryposis 100%
  • Spinal Muscular Atrophy 88%
  • Bone Fractures 74%
  • Contracture 36%
  • Paternal Inheritance 25%
  4 Scopus citations

• Clinical utility of anti-cytosolic 5’-nucleotidase 1A antibody in idiopathic inflammatory myopathies

  Ikenaga, C., Findlay, A. R., Goyal, N. A., Robinson, S., Cauchi, J., Hussain, Y., Wang, L. H., Kershen, J. C., Beson, B. A., Wallendorf, M., Bucelli, R. C., Mozaffar, T., Pestronk, A. & Weihl, C. C., Mar 2021, In: Annals of Clinical and Translational Neurology. 8, 3, p. 571-578 8 p.

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

  Open Access

  • 5'-Nucleotidase 100%
  • Myositis 92%
  • Inclusion Body Myositis 70%
  • Anti-Idiotypic Antibodies 55%
  • Antisynthetase syndrome 49%
  15 Scopus citations

• Flortaucipir (tau) PET in LGI1 antibody encephalitis

  Day, G., Gordon, B. A., McCullough, A., Bucelli, R. C., Perrin, R. J., Benzinger, T. L. S. & Ances, B. M., Feb 2021, In: Annals of Clinical and Translational Neurology. 8, 2, p. 491-497 7 p.

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

  Open Access

  • 7-(6-fluoropyridin-3-yl)-5H-pyrido(4,3-b)indole 100%
  • Encephalitis 60%
  • Leucine 58%
  • Glioma 52%
  • Atrophy 49%
  6 Scopus citations

• Immune and inflammatory myopathies

  Findlay, A. R. & Bucelli, R. C., Apr 9 2021, Neuroimmunology: Multiple Sclerosis, Autoimmune Neurology and Related Diseases. Springer International Publishing, p. 321-345 25 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

  • Myositis 100%
  • Dermatomyositis 50%
  • Exanthema 40%
  • Antisynthetase syndrome 35%
  • Inclusion Body Myositis 30%

• Leveraging molecular biomarkers to make the common diagnosis in the uncommon patient

  Day, G. S., Gordon, B. A., Bucelli, R. C., Perrin, R. J., Lopez-Chiriboga, A. S. & Ances, B. M., Mar 15 2021, In: Journal of Neuroimmunology. 352, 577474.

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

  • Biomarkers 100%
  • Hashimoto's encephalitis 90%
  • 7-(6-fluoropyridin-3-yl)-5H-pyrido(4,3-b)indole 81%
  • florbetapir 51%
  • Neuroimaging 41%
  2 Scopus citations

• Lumbosacral double crush syndrome

  Dibble, C. F., Bucelli, R. C., Greenberg, J. K. & Ray, W. Z., Nov 15 2021, Peripheral Nerve Issues after Orthopedic Surgery: A Multidisciplinary Approach to Prevention, Evaluation and Treatment. Springer International Publishing, p. 409-422 14 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

  • Crush Syndrome 100%
  • Peripheral Nerves 60%
  • Spine 28%
  • Mononeuropathies 17%
  • Nerve Compression Syndromes 16%

• Prospective Quantification of CSF Biomarkers in Antibody-Mediated Encephalitis

  Day, G. S., Yarbrough, M. Y., Körtvelyessy, P., Prüss, H., Bucelli, R. C., Fritzler, M. J., Mason, W., Tang-Wai, D. F., Steriade, C., Hébert, J., Henson, R. L., Herries, E. M., Ladenson, J. H., Lopez-Chiriboga, A. S., Graff-Radford, N. R., Morris, J. C. & Fagan, A., May 18 2021, In: Neurology. 96, 20, p. E2546-E2557

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

  • Encephalitis 100%
  • Neurogranin 68%
  • Biomarkers 61%
  • Antibodies 51%
  • Intermediate Filaments 29%
  31 Scopus citations

• Reducing body myopathy associated with the LIM2 p.(His123Arg) FHL1 variant

  Darki, L., Jalali-Sohi, A., Guzman, S., Mathew, A. J., Bucelli, R. C., Hurth, K. M. & Beydoun, S. R., Aug 2021, In: Clinical Neurology and Neurosurgery. 207, 106795.

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

  • Muscular Diseases 100%
  • Muscle Weakness 49%
  • Muscles 41%
  • Vitamin K 3 32%
  • Nitroblue Tetrazolium 32%
• 2020

  An Atypical and Multifactorial Acute Immune Polyradiculopathy: A Case Report

  Brier, M. R., Everett, E. A. & Bucelli, R. C., Apr 1 2020, In: Neurohospitalist. 10, 2, p. 118-120 3 p.

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

  Open Access

  • Polyradiculopathy 100%
  • Cranial Nerve Diseases 15%
  • Leukocytosis 13%
  • Sarcoidosis 13%
  • Routine Diagnostic Tests 11%
  4 Scopus citations

• An Elderly Man with Dementia

  Brier, M. R., Bucelli, R. C. & Day, G. S., Mar 1 2020, In: Clinical chemistry. 66, 3, p. 415-420 6 p.

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

• Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

  Members of Undiagnosed Diseases Network, May 20 2020, In: Neuron. 106, 4, p. 589-606.e6

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

  Open Access

  • Gain of Function Mutation 100%
  • Neuroglia 66%
  • Antioxidants 18%
  • Proteins 9%
  56 Scopus citations

• Phase 1-2 Trial of antisense oligonucleotide tofersen for SOD1 ALS

  Miller, T., Cudkowicz, M., Shaw, P. J., Andersen, P. M., Atassi, N., Bucelli, R. C., Genge, A., Glass, J., Ladha, S., Ludolph, A. L., Maragakis, N. J., McDermott, C. J., Pestronk, A., Ravits, J., Salachas, F., Trudell, R., Van Damme, P., Zinman, L., Bennett, C. F., Lane, R., & 11 othersSandrock, A., Runz, H., Graham, D., Houshyar, H., McCampbell, A., Nestorov, I., Chang, I., McNeill, M., Fanning, L., Fradette, S. & Ferguson, T. A., Jul 9 2020, In: New England Journal of Medicine. 383, 2, p. 109-119 11 p.

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

  Open Access

  • Superoxide Dismutase-1 100%
  • Antisense Oligonucleotides 91%
  • Amyotrophic Lateral Sclerosis 84%
  • Cerebrospinal Fluid 42%
  • Spinal Puncture 23%
  296 Scopus citations

• Single-cell RNA-seq analysis of human CSF microglia and myeloid cells in neuroinflammation

  Esaulova, E., Cantoni, C., Shchukina, I., Zaitsev, K., Bucelli, R. C., Wu, G. F., Artyomov, M. N., Cross, A. H. & Edelson, B. T., Jul 5 2020, In: Neurology: Neuroimmunology and NeuroInflammation. 7, 4, e732.

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

  Open Access

  • RNA-Seq 100%
  • Myeloid Cells 87%
  • Microglia 87%
  • Myelin-Oligodendrocyte Glycoprotein 82%
  • Small Cytoplasmic RNA 51%
  52 Scopus citations

• Testing for N-methyl- d -aspartate Receptor Autoantibodies in Clinical Practice

  Brooks, J., Yarbrough, M. L., Bucelli, R. C. & Day, G. S., Jan 1 2020, In: Canadian Journal of Neurological Sciences. 47, 1, p. 69-76 8 p.

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

  Open Access

  • aspartic acid receptor 100%
  • Autoantibodies 76%
  • Immunoglobulin G 34%
  • Encephalitis 32%
  • Serum 27%
  4 Scopus citations
• 2019

  A mutation in Site-1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema

  Schweitzer, G. G., Gan, C., Bucelli, R. C., Wegner, D., Schmidt, R. E., Shinawi, M., Finck, B. N. & Brookheart, R. T., Jul 2019, In: Molecular Genetics and Genomic Medicine. 7, 7, e00733.

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

  Open Access

  • site 1 membrane-bound transcription factor peptidase 100%
  • Phenotype 32%
  • Mutation 30%
  • Unfolded Protein Response 13%
  • Fibroblasts 8%
  8 Scopus citations

• Immune myopathy with large histiocyte-related myofiber necrosis

  Pestronk, A., Sinha, N., Alhumayyd, Z., Ly, C., Schmidt, R. & Bucelli, R., Apr 9 2019, In: Neurology. 92, 15, p. e1763-e1772

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

  • Histiocytes 100%
  • Muscular Diseases 88%
  • Necrosis 63%
  • Muscles 49%
  • Creatine Kinase 28%
  3 Scopus citations

• Nerve transfer as a novel treatment for West Nile virus-associated acute flaccid paralysis

  Wilks, A. W., Ray, W. Z., Al-Lozi, M. T. & Bucelli, R. C., Dec 15 2019, In: Journal of the Neurological Sciences. 407, 116502.

  Research output: Contribution to journal › Letter › peer-review
  1 Scopus citations

• Patient characteristics and outcome associations in AMPA receptor encephalitis

  Laurido-Soto, O., Brier, M. R., Simon, L. E., McCullough, A., Bucelli, R. C. & Day, G. S., Feb 1 2019, In: Journal of Neurology. 266, 2, p. 450-460 11 p.

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

  • AMPA Receptors 100%
  • Encephalitis 90%
  • Antibodies 46%
  • Hashimoto's encephalitis 41%
  • alpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid 34%
  55 Scopus citations

• Primary Spinal Cord Glioblastoma Multiforme in the Young and Old

  Rodriguez, J., Dionne, K., Wu, G. F., Goyal, M. S. & Bucelli, R. C., Oct 1 2019, In: Neurohospitalist. 9, 4, p. 243-244 2 p.

  Research output: Contribution to journal › Comment/debate
  1 Scopus citations

• Rapid Recovery with Plasma Exchange in Acute Motor Axonal Neuropathy with Reversible Conduction Failure

  Burford, M., Chou, C. A., Sommerville, R. B. & Bucelli, R. C., Sep 1 2019, In: Journal of clinical neuromuscular disease. 21, 1, p. 35-41 7 p.

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

  • Plasma Exchange 100%
  • Quadriplegia 33%
  • Therapeutics 8%
  1 Scopus citations

• Reader response: Unintended consequences of Mayo paraneoplastic evaluations

  Brier, M. R., Bucelli, R. C. & Day, G. S., Sep 24 2019, In: Neurology. 93, 13, p. 602-603 2 p.

  Research output: Contribution to journal › Comment/debate
  2 Scopus citations

• Sleep disturbances are common in patients with autoimmune encephalitis

  Blattner, M. S., de Bruin, G. S., Bucelli, R. C. & Day, G. S., Apr 4 2019, In: Journal of Neurology. 266, 4, p. 1007-1015 9 p.

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

  • Hashimoto's encephalitis 100%
  • Sleep 53%
  • Autoantibodies 26%
  • Dreams 20%
  • Disorders of Excessive Somnolence 15%
  42 Scopus citations

• Structural signature of sporadic Creutzfeldt–Jakob disease

  Navid, J., Day, G. S., Strain, J., Perrin, R. J., Bucelli, R. C., Dincer, A., Wisch, J. K., Soleimani-Meigooni, D., Morris, J. C., Benzinger, T. L. S. & Ances, B. M., Aug 2019, In: European Journal of Neurology. 26, 8, p. 1037-1043 7 p.

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

  • Temporal Lobe 100%
  • Parietal Lobe 70%
  • Cerebrospinal Fluid 62%
  • Prion Diseases 44%
  • Prion Proteins 43%
  1 Scopus citations
• 2018

  Autoimmune Encephalitis with Multiple Autoantibodies: A Diagnostic and Therapeutic Challenge

  Kim, A. E., Kang, P., Bucelli, R. C., Ferguson, C. J., Schmidt, R. E., Varadhachary, A. S. & Day, G. S., 2018, In: Neurologist. 23, 2, p. 55-59 5 p.

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

  • Hashimoto's encephalitis 100%
  • Autoantibodies 62%
  • Antibodies 16%
  • Surface Antigens 16%
  • Immunotherapy 13%
  12 Scopus citations

• CANOMAD and other chronic ataxic neuropathies with disialosyl antibodies (CANDA)

  Garcia-Santibanez, R., Zaidman, C. M., Sommerville, R. B., Lopate, G., Weihl, C. C., Pestronk, A. & Bucelli, R. C., Jun 1 2018, In: Journal of Neurology. 265, 6, p. 1402-1409 8 p.

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

  • Rituximab 100%
  • Axons 80%
  • Antibodies 76%
  • cold agglutinins 71%
  • Ophthalmoplegia 61%
  36 Scopus citations

• Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome Presenting with Neurotrophic Keratopathy

  Paley, G. L., Kung, N. H., Bucelli, R. C., Margolis, T. P. & Van Stavern, G. P., Sep 1 2018, In: Journal of Neuro-Ophthalmology. 38, 3, p. 342-343 2 p.

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

• Hereditary Motor Neuropathies and Amyotrophic Lateral Sclerosis: a Molecular and Clinical Update

  Garcia-Santibanez, R., Burford, M. & Bucelli, R. C., Dec 1 2018, In: Current neurology and neuroscience reports. 18, 12, 93.

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

  • Amyotrophic Lateral Sclerosis 100%
  • Biomarkers 30%
  • Spinal Muscular Atrophy 30%
  • Growth 23%
  • Molecular Biology 18%
  9 Scopus citations

• Immune myopathies with perimysial pathology: Clinical and laboratory features

  Bucelli, R. C. & Pestronk, A., Mar 1 2018, In: Neurology: Neuroimmunology and NeuroInflammation. 5, 2, e434.

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

  Open Access

  • Clinical Pathology 100%
  • Muscular Diseases 88%
  • Pathology 52%
  • Interstitial Lung Diseases 32%
  • Dermatomyositis 21%
  20 Scopus citations

• Implementing Motor Unit Number Index (MUNIX) in a large clinical trial: Real world experience from 27 centres

  Neuwirth, C., Braun, N., Claeys, K. G., Bucelli, R., Fournier, C., Bromberg, M., Petri, S., Goedee, S., Lenglet, T., Leppanen, R., Canosa, A., Goodman, I., Al-Lozi, M., Ohkubo, T., Hübers, A., Atassi, N., Abrahao, A., Funke, A., Appelfeller, M., Tümmler, A., & 18 othersFinegan, E., Glass, J. D., Babu, S., Ladha, S. S., Kwast-Rabben, O., Juntas-Morales, R., Coffey, A., Chaudhry, V., Vu, T., Saephanh, C., Newhard, C., Zakrzewski, M., Rosier, E., Hamel, N., Raheja, D., Raaijman, J., Ferguson, T. & Weber, M., Aug 2018, In: Clinical Neurophysiology. 129, 8, p. 1756-1762 7 p.

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

  • Pragmatic Clinical Trials 100%
  • Muscles 42%
  • Amyotrophic Lateral Sclerosis 38%
  • Natural History 17%
  • Motor Neurons 17%
  48 Scopus citations

• In vivo [¹⁸F]-AV-1451 tau-PET imaging in sporadic Creutzfeldt-Jakob disease

  Day, G. S., Gordon, B. A., Perrin, R. J., Cairns, N. J., Beaumont, H., Schwetye, K., Ferguson, C., Sinha, N., Bucelli, R., Musiek, E. S., Ghoshal, N., Ponisio, M. R., Vincent, B., Mishra, S., Jackson, K., Morris, J. C., Benzinger, T. L. S. & Ances, B. M., Mar 6 2018, In: Neurology. 90, 10, p. E896-E906

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

  • 7-(6-fluoropyridin-3-yl)-5H-pyrido(4,3-b)indole 100%
  • Sporadic Creutzfeldt-Jakob Disease 85%
  • Creutzfeldt-Jakob Syndrome 51%
  • Alzheimer Disease 30%
  • Autopsy 14%
  19 Scopus citations

• Nerve ultrasound reliability of upper limbs: Effects of examiner training

  Garcia-Santibanez, R., Dietz, A. R., Bucelli, R. C. & Zaidman, C. M., Feb 2018, In: Muscle and Nerve. 57, 2, p. 189-192 4 p.

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

  • Ulnar Nerve 100%
  • Upper Extremity 74%
  • Radial Nerve 72%
  • Wrist 52%
  • Median Nerve 31%
  21 Scopus citations

• TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

  Lee, Y., Jonson, P. H., Sarparanta, J., Palmio, J., Sarkar, M., Vihola, A., Evilä, A., Suominen, T., Penttilä, S., Savarese, M., Johari, M., Minot, M. C., Hilton-Jones, D., Maddison, P., Chinnery, P., Reimann, J., Kornblum, C., Kraya, T., Zierz, S., Sue, C., & 8 othersGoebel, H., Azfer, A., Ralston, S. H., Hackman, P., Bucelli, R. C., Taylor, J. P., Weihl, C. C. & Udd, B., Mar 1 2018, In: Journal of Clinical Investigation. 128, 3, p. 1164-1177 14 p.

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

  Open Access

  • Penetrance 100%
  • Myoblasts 99%
  • Ubiquitin 86%
  • Phenotype 78%
  • Mutation 72%
  66 Scopus citations
• 2017

  A middle-aged man with progressive ophthalmoparesis, ataxia, and spastic paraparesis

  Kung, N. H., Van Stavern, G. P. & Bucelli, R. C., Jun 2017, In: JAMA Neurology. 74, 6, p. 733-736 4 p.

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

  • Gait Ataxia 100%
  • Spastic Paraparesis 99%
  • Ophthalmoplegia 88%
  • Ataxia 70%
  • Eye Movements 69%

• Commentary

  Wilks, A. & Bucelli, R. C., Jun 2017, In: Clinical chemistry. 63, 6, p. 1073 1 p.

  Research output: Contribution to journal › Comment/debate

  Open Access