Thomas Crawford

Research output

Research output per year 1984 1996 1998 1999 2002 2003 2005 2007 2010 2011 2014 2015 2018 2019 2021 2023

• 143 Article
• 16 Review article
• 9 Letter
• 6 Chapter
• 8 More
  • 5 Comment/debate
  • 1 Book
  • 1 Foreword/postscript
  • 1 Short survey

Research output per year

Research output per year

Search results

• 2023

  Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study

  the NURTURE Study Group, Aug 2023, In: Muscle and Nerve. 68, 2, p. 157-170 14 p.

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

  Open Access

  • nusinersen 100%
  • Spinal Muscular Atrophy 70%
  • Child 23%
  • Safety 11%
  • Walking 11%

• Identifying Biomarkers of Spinal Muscular Atrophy for Further Development

  Glascock, J., Darras, B. T., Crawford, T. O., Sumner, C. J., Kolb, S. J., Didonato, C., Elsheikh, B., Howell, K., Farwell, W., Valente, M., Petrillo, M., Tingey, J. & Jarecki, J., Sep 8 2023, In: Journal of neuromuscular diseases. 10, 5, p. 937-954 18 p.

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

  Open Access

  • Spinal Muscular Atrophy 100%
  • Biomarkers 50%
  • Intermediate Filaments 31%
  • Motor Neurons 27%
  • Muscle Weakness 10%

• Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)

  Finkel, R. S., Darras, B. T., Mendell, J. R., Day, J. W., Kuntz, N. L., Connolly, A. M., Zaidman, C. M., Crawford, T. O., Butterfield, R. J., Shieh, P. B., Tennekoon, G., Brandsema, J. F., Iannaccone, S. T., Shoffner, J., Kavanagh, S., Macek, T. A. & Tauscher-Wisniewski, S., 2023, In: Journal of neuromuscular diseases. 10, 3, p. 389-404 16 p.

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

  Open Access

  • Spinal Muscular Atrophy 100%
  • Sitting Position 80%
  • Motor Neurons 18%
  • Safety 11%
  • Transaminases 10%
• 2022

  Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy

  Alonso-Pérez, J., González-Quereda, L., Bruno, C., Panicucci, C., Alavi, A., Nafissi, S., Nilipour, Y., Zanoteli, E., Isihi, L. M. D. A., Melegh, B., Hadzsiev, K., Muelas, N., Vílchez, J. J., Dourado, M. E., Kadem, N., Kutluk, G., Umair, M., Younus, M., Pegorano, E., Bello, L., & 8 othersCrawford, T. O., Suárez-Calvet, X., Töpf, A., Guglieri, M., Marini-Bettolo, C., Gallano, P., Straub, V. & Díaz-Manera, J., Feb 1 2022, In: Brain. 145, 2, p. 596-606 11 p.

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

  Open Access

  • Sarcoglycans 100%
  • Muscular Dystrophies 77%
  • Sarcoglycanopathies 32%
  • Muscle Weakness 14%
  • Limb-girdle muscular dystrophy autosomal recessive 8%

• Early treatment is a lifeline for infants with SMA

  Sumner, C. J. & Crawford, T. O., Jul 2022, In: Nature medicine. 28, 7, p. 1348-1349 2 p.

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

• Hip pain in patients with spinal muscular atrophy: Prevalence, intensity, interference, and factors associated with moderate to severe pain

  Xu, A. L., Crawford, T. O. & Sponseller, P. D., May 1 2022, In: Journal of Pediatric Orthopaedics. 42, 5, p. 273-279 7 p.

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

  • Spinal Muscular Atrophy 100%
  • Hip 63%
  • Pain 44%
  • Hip Contracture 11%
  • Confidence Intervals 8%

• Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy

  Waldrop, M. A., Moore, S. A., Mathews, K. D., Darbro, B. W., Medne, L., Finkel, R., Connolly, A. M., Crawford, T. O., Drachman, D., Wein, N., Habib, A. A., Krzesniak-Swinarska, M. A., Zaidman, C. M., Collins, J. J., Jokela, M., Udd, B., Day, J. W., Ortiz-Guerrero, G., Statland, J., Butterfield, R. J., & 3 othersDunn, D. M., Weiss, R. B. & Flanigan, K. M., Apr 2022, In: Human mutation. 43, 4, p. 511-528 18 p.

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

  Open Access

  • Duchenne Muscular Dystrophy 100%
  • Introns 81%
  • Mutation 47%
  • Dystrophin 42%
  • Muscles 40%

• TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function

  Taga, A., Peyton, M. A., Goretzki, B., Gallagher, T. Q., Ritter, A., Harper, A., Crawford, T. O., Hellmich, U. A., Sumner, C. J. & McCray, B. A., Mar 2022, In: Annals of Clinical and Translational Neurology. 9, 3, p. 375-391 17 p.

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

  Open Access

  • TRPV Cation Channels 100%
  • Phenotype 43%
  • Mutation 40%
  • Neuromuscular Diseases 30%
  • Neuromuscular Manifestations 21%
• 2021

  Acute flaccid myelitis: cause, diagnosis, and management

  AFM working group, Jan 23 2021, In: The Lancet. 397, 10271, p. 334-346 13 p.

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

  Open Access

  • acute flaccid myelitis 100%
  • Rehabilitation 16%
  • Enterovirus Infections 15%
  • Poliomyelitis 12%
  • Muscle Weakness 11%

• Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

  Johnson, J. O., Chia, R., Miller, D. E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A. E., Topp, S. D., Gibbs, J. R., Cookson, M. R., Sabir, M. S., Dalgard, C. L., Troakes, C., Jones, A. R., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Ticozzi, N., Silani, V., & 268 othersGellera, C., Blair, I. P., Dobson-Stone, C., Kwok, J. B., Bonkowski, E. S., Palvadeau, R., Tienari, P. J., Morrison, K. E., Shaw, P. J., Al-Chalabi, A., Brown, R. H., Calvo, A., Mora, G., Al-Saif, H., Gotkine, M., Leigh, F., Chang, I. J., Perlman, S. J., Glass, I., Scott, A. I., Shaw, C. E., Basak, A. N., Landers, J. E., Chiò, A., Crawford, T. O., Smith, B. N., Traynor, B. J., Smith, B. N., Fallini, C., Gkazi, A. S., Topp, S. D., Scotter, E. L., Kenna, K. P., Keagle, P., Tiloca, C., Vance, C., Troakes, C., Colombrita, C., King, A., Pensato, V., Castellotti, B., Baas, F., Ten Asbroek, A. L. M. A., McKenna-Yasek, D., McLaughlin, R. L., Polak, M., Asress, S., Esteban-Pérez, J., Stevic, Z., D'Alfonso, S., Mazzini, L., Comi, G. P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., Van Rheenen, W., Rademakers, R., Van Blitterswijk, M., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Sorarù, G., Williams, K. L., Nicholson, G. A., Blair, I. P., Leblond-Manry, C., Rouleau, G. A., Hardiman, O., Morrison, K. E., Veldink, J. H., Van Den Berg, L. H., Pall, H., Turner, M. R., Talbot, K., Taroni, F., García-Redondo, A., Wu, Z., Glass, J. D., Gellera, C., Ratti, A., Brown, R. H., Landers, J. E., Dalgard, C. L., Adeleye, A., Soltis, A. R., Alba, C., Viollet, C., Bacikova, D., Hupalo, D. N., Sukumar, G., Pollard, H. B., Wilkerson, M. D., Martinez, E. M. G., Abramzon, Y., Ahmed, S., Arepalli, S., Baloh, R. H., Bowser, R., Brady, C. B., Brice, A., Broach, J., Campbell, R. H., Camu, W., Cooper-Knock, J., Ding, J., Drepper, C., Drory, V. E., Dunckley, T. L., Eicher, J. D., England, B. K., Faghri, F., Feldman, E., Floeter, M. K., Fratta, P., Geiger, J. T., Gerhard, G., Gibbs, J. R., Gibson, S. B., Glass, J. D., Hardy, J., Harms, M. B., Heiman-Patterson, T. D., Hernandez, D. G., Jansson, L., Kirby, J., Kowall, N. W., Laaksovirta, H., Landeck, N., Landi, F., Le Ber, I., Lumbroso, S., Macgowan, D. J. L., Maragakis, N. J., Mouzat, K., Murphy, N. A., Myllykangas, L., Nalls, M. A., Orrell, R. W., Ostrow, L. W., Pamphlett, R., Pickering-Brown, S., Pioro, E. P., Pletnikova, O., Pliner, H. A., Pulst, S. M., Ravits, J. M., Renton, A. E., Rivera, A., Robberecht, W., Rogaeva, E., Rollinson, S., Rothstein, J. D., Scholz, S. W., Sendtner, M., Sidle, K. C., Simmons, Z., Singleton, A. B., Smith, N., Stone, D. J., Tienari, P. J., Troncoso, J. C., Valori, M., Van Damme, P., Van Deerlin, V. M., Van Den Bosch, L., Zinman, L., Landers, J. E., Chiò, A., Traynor, B. J., Angelocola, S. M., Ausiello, F. P., Barberis, M., Bartolomei, I., Battistini, S., Bersano, E., Bisogni, G., Borghero, G., Brunetti, M., Cabona, C., Calvo, A., Canale, F., Canosa, A., Cantisani, T. A., Capasso, M., Caponnetto, C., Cardinali, P., Carrera, P., Casale, F., Chiò, A., Colletti, T., Conforti, F. L., Conte, A., Conti, E., Corbo, M., Cuccu, S., Dalla Bella, E., D'Errico, E., Demarco, G., Dubbioso, R., Ferrarese, C., Ferraro, P. M., Filippi, M., Fini, N., Floris, G., Fuda, G., Gallone, S., Gianferrari, G., Giannini, F., Grassano, M., Greco, L., Iazzolino, B., Introna, A., La Bella, V., Lattante, S., Liguori, R., Logroscino, G., Logullo, F. O., Lunetta, C., Mandich, P., Mandrioli, J., Manera, U., Manganelli, F., Marangi, G., Marinou, K., Marrosu, M. G., Martinelli, I., Messina, S., Moglia, C., Mosca, L., Murru, M. R., Origone, P., Passaniti, C., Petrelli, C., Petrucci, A., Pozzi, S., Pugliatti, M., Quattrini, A., Ricci, C., Riolo, G., Riva, N., Russo, M., Sabatelli, M., Salamone, P., Salivetto, M., Salvi, F., Santarelli, M., Sbaiz, L., Sideri, R., Simone, I., Simonini, C., Spataro, R., Tanel, R., Tedeschi, G., Ticca, A., Torriello, A., Tranquilli, S., Tremolizzo, L., Trojsi, F., Vasta, R., Vacchiano, V., Vita, G., Volanti, P., Zollino, M. & Zucchi, E., Oct 1 2021, In: JAMA Neurology. 78, 10, p. 1236-1248 13 p.

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

  Open Access

  • Amyotrophic Lateral Sclerosis 100%
  • Genes 37%
  • Whole Exome Sequencing 23%
  • Hereditary Sensory and Autonomic Neuropathies 10%
  • Failure to Thrive 8%

• Assuring long-term safety of highly effective gene-modulating therapeutics for rare diseases

  Crawford, T. O. & Sumner, C. J., Aug 2021, In: Journal of Clinical Investigation. 131, 15, e152817.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access

• Correction to: Growth in ataxia telangiectasia (Orphanet Journal of Rare Diseases, (2021), 16, 1, (123), 10.1186/s13023-021-01716-5)

  Natale, V. A. I., Cole, T. J., Rothblum-Oviatt, C., Wright, J., Crawford, T. O., Lefton-Greif, M. A., McGrath-Morrow, S. A., Schlechter, H. & Lederman, H. M., Dec 2021, In: Orphanet journal of rare diseases. 16, 1, 248.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access

  • Ataxia Telangiectasia 100%
  • Growth 39%

• Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR

  Stabley, D. L., Holbrook, J., Scavina, M., Crawford, T. O., Swoboda, K. J., Robbins, K. M. & Butchbach, M. E. R., Mar 2021, In: Neurogenetics. 22, 1, p. 53-64 12 p.

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

  • Gene Conversion 100%
  • Gene Deletion 80%
  • Spinal Muscular Atrophy 72%
  • Motor Neurons 71%
  • Polymerase Chain Reaction 43%

• Growth in ataxia telangiectasia

  Natale, V. A. I., Cole, T. J., Rothblum-Oviatt, C., Wright, J., Crawford, T. O., Lefton-Greif, M. A., McGrath-Morrow, S. A., Schlechter, H. & Lederman, H. M., Dec 2021, In: Orphanet journal of rare diseases. 16, 1, 123.

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

  Open Access

  • Ataxia Telangiectasia 100%
  • Growth 39%
  • Centers for Disease Control and Prevention (U.S.) 30%
  • Weights and Measures 12%
  • Infections 9%
  1 Scopus citations

• Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA

  Kong, L., Valdivia, D. O., Simon, C. M., Hassinan, C. W., Delestrée, N., Ramos, D. M., Park, J. H., Pilato, C. M., Xu, X., Crowder, M., Grzyb, C. C., King, Z. A., Petrillo, M., Swoboda, K. J., Davis, C., Lutz, C. M., Stephan, A. H., Zhao, X., Weetall, M., Naryshkin, N. A., & 3 othersCrawford, T. O., Mentis, G. Z. & Sumner, C. J., Jan 27 2021, In: Science translational medicine. 13, 578, eabb6871.

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

  Open Access

  • Spinal Muscular Atrophy 100%
  • Axons 67%
  • Motor Neurons 24%
  • Schwann Cells 19%
  • neurofilament protein L 14%
  4 Scopus citations

• Improving the efficacy of exome sequencing at a quaternary care referral centre: Novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

  Grunseich, C., Sarkar, N., Lu, J., Owen, M., Schindler, A., Calabresi, P. A., Sumner, C. J., Roda, R. H., Chaudhry, V., Lloyd, T. E., Crawford, T. O., Subramony, S. H., Oh, S. J., Richardson, P., Tanji, K., Kwan, J. Y., Fischbeck, K. H. & Mankodi, A., Nov 1 2021, In: Journal of Neurology, Neurosurgery and Psychiatry. 92, 11, p. 1186-1196 11 p.

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

  Open Access

  • Exome 100%
  • Referral and Consultation 61%
  • Whole Exome Sequencing 49%
  • Mutation 46%
  • Biological Assay 43%

• Multidisciplinary management of ataxia telangiectasia: Current perspectives

  McGrath-Morrow, S. A., Rothblum-Oviatt, C. C., Wright, J., Schlechter, H., Lefton-Greif, M. A., Natale, V. A., Crawford, T. O. & Lederman, H. M., 2021, In: Journal of Multidisciplinary Healthcare. 14, p. 1637-1643 7 p.

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

  Open Access

  • Ataxia Telangiectasia 100%
  • Ataxia Telangiectasia Mutated Proteins 13%
  • Agammaglobulinemia 11%
  • Chromosome Breakage 11%
  • gamma-Globulins 10%

• Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

  Day, J. W., Finkel, R. S., Chiriboga, C. A., Connolly, A. M., Crawford, T. O., Darras, B. T., Iannaccone, S. T., Kuntz, N. L., Peña, L. D. M., Shieh, P. B., Smith, E. C., Kwon, J. M., Zaidman, C. M., Schultz, M., Feltner, D. E., Tauscher-Wisniewski, S., Ouyang, H., Chand, D. H., Sproule, D. M., Macek, T. A., & 1 othersMendell, J. R., Apr 2021, In: The Lancet Neurology. 20, 4, p. 284-293 10 p.

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

  • Spinal Muscular Atrophies of Childhood 100%
  • Genetic Therapy 62%
  • Ventilation 16%
  • Pediatrics 15%
  • Bronchiolitis 15%
  5 Scopus citations

• Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient with a Remote History of T-Cell Leukemia

  Sze, S. G. K., Lederman, H. M., Crawford, T. O., Wangler, M. F., Lewis, A. M., Kastan, M. B., DIbra, H. K., Taylor, A. M. R. & Wechsler, D. S., Jan 2021, In: Journal of Pediatric Hematology/Oncology. 43, 1, p. E138-E140

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

  • T-Cell Leukemia 100%
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 97%
  • Ataxia Telangiectasia 93%
  • Neurologic Manifestations 37%
  • Early Detection of Cancer 34%

• Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study

  Acsadi, G., Crawford, T. O., Müller-Felber, W., Shieh, P. B., Richardson, R., Natarajan, N., Castro, D., Ramirez-Schrempp, D., Gambino, G., Sun, P. & Farwell, W., May 2021, In: Muscle and Nerve. 63, 5, p. 668-677 10 p.

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

  Open Access

  • nusinersen 100%
  • Spinal Muscular Atrophy 70%
  • Safety 31%
  • Cough 5%
  • Respiratory Tract Infections 5%
  1 Scopus citations
• 2020

  Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

  Glascock, J., Sampson, J., Connolly, A. M., Darras, B. T., Day, J. W., Finkel, R., Howell, R. R., Klinger, K. W., Kuntz, N., Prior, T., Shieh, P. B., Crawford, T. O., Kerr, D. & Jarecki, J., 2020, In: Journal of neuromuscular diseases. 7, 2, p. 97-100 4 p.

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

  Open Access
  26 Scopus citations

• The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases

  Auslander, N., Ramos, D. M., Zelaya, I., Karathia, H., Crawford, T. O., Schäffer, A. A., Sumner, C. J. & Ruppin, E., Dec 2020, In: Molecular systems biology. 16, 12, e9701.

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

  Open Access

  • Modifier Genes 100%
  • modifiers (genes) 86%
  • Mining 86%
  • Gene 68%
  • transcriptomics 61%
  1 Scopus citations
• 2019

  Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment

  Ramos, D. M., d’Ydewalle, C., Gabbeta, V., Dakka, A., Klein, S. K., Norris, D. A., Matson, J., Taylor, S. J., Zaworski, P. G., Prior, T. W., Snyder, P. J., Valdivia, D., Hatem, C. L., Waters, I., Gupte, N., Swoboda, K. J., Rigo, F., Frank Bennett, C., Naryshkin, N., Paushkin, S., & 2 othersCrawford, T. O. & Sumner, C. J., Nov 1 2019, In: Journal of Clinical Investigation. 129, 11, p. 4817-4831 15 p.

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

  Open Access

  • Spinal Muscular Atrophy 100%
  • Motor Neurons 74%
  • Tissue Survival 17%
  • Spinal Cord 17%
  • Antisense Oligonucleotides 16%
  36 Scopus citations

• Chromosome instability syndromes

  Taylor, A. M. R., Rothblum-Oviatt, C., Ellis, N. A., Hickson, I. D., Meyer, S., Crawford, T. O., Smogorzewska, A., Pietrucha, B., Weemaes, C. & Stewart, G. S., Dec 1 2019, In: Nature Reviews Disease Primers. 5, 1, 64.

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

  Open Access

  • Nijmegen Breakage Syndrome 100%
  • DNA Repair-Deficiency Disorders 92%
  • Fanconi Anemia 84%
  • DNA Repair 58%
  • Bloom Syndrome 48%
  17 Scopus citations

• Clinical Subpopulations in a Sample of North American Children Diagnosed with Acute Flaccid Myelitis, 2012-2016

  Elrick, M. J., Gordon-Lipkin, E., Crawford, T. O., Van Haren, K., Messacar, K., Thornton, N., Dee, E., Voskertchian, A., Nance, J. R., Muñoz, L. S., Gorman, M. P., Benson, L. A., Thomas, D. L., Pardo, C. A., Milstone, A. M. & Duggal, P., Feb 2019, In: JAMA pediatrics. 173, 2, p. 134-139 6 p.

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

  Open Access

  • acute flaccid myelitis 100%
  • Child 23%
  • Centers for Disease Control and Prevention (U.S.) 19%
  • Transverse Myelitis 13%
  • Neurologists 10%
  28 Scopus citations

• Description of Restrictively Defined Acute Flaccid Myelitis - Reply

  Elrick, M. J., Crawford, T. O. & Pardo, C. A., Jul 2019, In: JAMA pediatrics. 173, 7, p. 702-703 2 p.

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

• Including ELSI research questions in newborn screening pilot studies

  for the Bioethics and Legal Workgroup of the Newborn Screening Translational Research Network, Mar 1 2019, In: Genetics in Medicine. 21, 3, p. 525-533 9 p.

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

  Open Access

  • Neonatal Screening 100%
  • Bioethics 11%
  • Translational Medical Research 9%
  • Newborn Infant 6%
  • Parents 6%
  5 Scopus citations

• Neurofilament as a potential biomarker for spinal muscular atrophy

  Darras, B. T., Crawford, T. O., Finkel, R. S., Mercuri, E., De Vivo, D. C., Oskoui, M., Tizzano, E. F., Ryan, M. M., Muntoni, F., Zhao, G., Staropoli, J., McCampbell, A., Petrillo, M., Stebbins, C., Fradette, S., Farwell, W. & Sumner, C. J., May 2019, In: Annals of Clinical and Translational Neurology. 6, 5, p. 932-944 13 p.

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

  Open Access

  • Spinal Muscular Atrophy 100%
  • Intermediate Filaments 84%
  • Biomarkers 50%
  • nusinersen 47%
  • Child 14%
  45 Scopus citations

• Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

  NURTURE Study Group, Nov 2019, In: Neuromuscular Disorders. 29, 11, p. 842-856 15 p.

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

  Open Access

  • nusinersen 100%
  • Spinal Muscular Atrophy 70%
  • Safety 31%
  • Walking 31%
  • Spinal Muscular Atrophies of Childhood 26%
  103 Scopus citations
• 2018

  An overview of the Cure SMA membership database: Highlights of key demographic and clinical characteristics of SMA members

  Belter, L., Cook, S. F., Crawford, T. O., Jarecki, J., Jones, C. C., Kissel, J. T., Schroth, M. & Hobby, K., 2018, In: Journal of neuromuscular diseases. 5, 2, p. 167-176 10 p.

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

  Open Access

  • Demography 100%
  • Databases 93%
  • Cost of Illness 30%
  • Incidence 12%
  • Therapeutics 4%
  10 Scopus citations

• Charcot–Marie–Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

  Jerath, N. U., Mankodi, A., Crawford, T. O., Grunseich, C., Baloui, H., Nnamdi-Emeratom, C., Schindler, A. B., Heiman-Patterson, T., Chrast, R. & Shy, M. E., May 2018, In: Muscle and Nerve. 57, 5, p. 749-755 7 p.

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

  • Mutation 100%
  • tetracycline CMT-3 55%
  • Inborn Genetic Diseases 55%
  • Neural Conduction 33%
  • Scoliosis 32%
  5 Scopus citations

• Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I

  for the Project Cure SMA Investigator's Network, Feb 2018, In: Muscle and Nerve. 57, 2, p. 193-199 7 p.

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

  • Spinal Muscular Atrophies of Childhood 100%
  • Carnitine 80%
  • Valproic Acid 73%
  • Clinical Trials 44%
  • Spinal Muscular Atrophy 21%
  13 Scopus citations

• Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

  SMA Care Group, Mar 2018, In: Neuromuscular Disorders. 28, 3, p. 197-207 11 p.

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

  • Spinal Muscular Atrophy 100%
  • Ethics 78%
  • Immunization 64%
  • Lung 41%
  • Standard of Care 37%
  170 Scopus citations

• Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

  SMA Care Group, Feb 1 2018, In: Neuromuscular Disorders. 28, 2, p. 103-115 13 p.

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

  Open Access

  • Spinal Muscular Atrophies of Childhood 100%
  • Spinal Muscular Atrophy 87%
  • Orthopedics 61%
  • Rehabilitation 51%
  • Standard of Care 32%
  227 Scopus citations

• Duchenne muscular dystrophy newborn screening, a case study for examining ethical and legal issues for pilots for emerging disorders: Considerations and recommendations

  Lloyd-Puryear, M. A., Crawford, T. O., Brower, A., Stephenson, K., Trotter, T., Goldman, E., Goldenberg, A., Rodney Howell, R., Kennedy, A. & Watson, M., Mar 2018, In: International Journal of Neonatal Screening. 4, 1, 6.

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

  Open Access

  • Pilots 100%
  • Duchenne Muscular Dystrophy 90%
  • Neonatal Screening 90%
  • Ethics 78%
  • Bioethics 71%

• Fifteen-year longitudinal follow-up of a patient with severe early-onset Charcot-Marie-Tooth disease type 2A

  McCray, B. A., Hurst, W., Crawford, T. O. & Lloyd, T. E., May 2018, In: Muscle and Nerve. 57, 5, p. E126-E128

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

• Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening

  Glascock, J., Sampson, J., Haidet-Phillips, A., Connolly, A., Darras, B., Day, J., Finkel, R., Howell, R. R., Klinger, K., Kuntz, N., Prior, T., Shieh, P. B., Crawford, T. O., Kerr, D. & Jarecki, J., 2018, In: Journal of neuromuscular diseases. 5, 2, p. 145-158 14 p.

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

  Open Access

  • Spinal Muscular Atrophy 100%
  • Neonatal Screening 90%
  • Motor Neurons 18%
  • Guidelines 18%
  • Therapeutics 12%
  77 Scopus citations

• Two breakthrough gene-targeted treatments for spinal muscular atrophy: Challenges remain

  Sumner, C. J. & Crawford, T. O., Aug 1 2018, In: Journal of Clinical Investigation. 128, 8, p. 3219-3227 9 p.

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

  Open Access

  • Spinal Muscular Atrophy 100%
  • Motor Neurons 55%
  • Motor Neuron Disease 48%
  • RNA Precursors 43%
  • Genes 30%
  40 Scopus citations
• 2017

  218th ENMC International Workshop:: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19–21 February 2016

  ENMC SMA Workshop Study Group, Jun 2017, In: Neuromuscular Disorders. 27, 6, p. 596-605 10 p.

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

  Open Access
  30 Scopus citations

• Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR

  Stabley, D. L., Holbrook, J., Harris, A. W., Swoboda, K. J., Crawford, T. O., Sol-Church, K. & Butchbach, M. E. R., May 2017, In: Neuromuscular Disorders. 27, 5, p. 439-446 8 p.

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

  Open Access

  • Spinal Muscular Atrophy 100%
  • Microsatellite Repeats 80%
  • Datasets 60%
  • Cell Line 45%
  • Polymerase Chain Reaction 45%
  9 Scopus citations

• Standard of Care for Spinal Muscular Atrophy

  Crawford, T. O., 2017, Spinal Muscular Atrophy: Disease Mechanisms and Therapy. Elsevier Inc., p. 43-62 20 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Spinal Muscular Atrophy 100%
  • Standard of Care 74%
  • Respiration 31%
  • Skeletal Muscle 30%
  • Cause of Death 30%
  2 Scopus citations
• 2016

  Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia

  Lefton-Greif, M. A., Perlman, A. L., He, X., Lederman, H. M. & Crawford, T. O., Oct 1 2016, In: Developmental medicine and child neurology. 58, 10, p. 1069-1075 7 p.

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

  Open Access

  • Ataxia Telangiectasia 100%
  • Respiration 65%
  • Young Adult 63%
  • Swallows 45%
  • Pulmonary Ventilation 41%
  8 Scopus citations

• Ataxia telangiectasia: A review

  Rothblum-Oviatt, C., Wright, J., Lefton-Greif, M. A., McGrath-Morrow, S. A., Crawford, T. O. & Lederman, H. M., Nov 25 2016, In: Orphanet journal of rare diseases. 11, 1, 159.

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

  Open Access

  • Ataxia Telangiectasia 100%
  • Ataxia Telangiectasia Mutated Proteins 21%
  • Prenatal Diagnosis 14%
  • Telangiectasis 11%
  • Lymphopenia 11%
  183 Scopus citations

• KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction

  Duis, J., Dean, S., Applegate, C., Harper, A., Xiao, R., He, W., Dollar, J. D., Sun, L. R., Waberski, M. B., Crawford, T. O., Hamosh, A. & Stafstrom, C. E., Oct 1 2016, In: Annals of neurology. 80, 4, p. 633-637 5 p.

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

  Open Access

  • Kinesin 100%
  • Phenotype 46%
  • Mutation 43%
  • Muscle Hypotonia 31%
  • Whole Exome Sequencing 30%
  26 Scopus citations
• 2015

  Acquired Presynaptic Neuromuscular Junction Disorders: Infant Botulism and Lambert-Eaton Myasthenic Syndrome

  Sakonju, A. & Crawford, T. O., Jan 1 2015, Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician's Approach. Elsevier Inc., p. 445-455 11 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Neuromuscular Junction Diseases 100%
  • Lambert-Eaton Myasthenic Syndrome 96%
  • Botulism 89%
  • Amifampridine 34%
  • Length of Stay 31%
  2 Scopus citations

• Astrocytes influence the severity of spinal muscular atrophy

  Rindt, H., Feng, Z., Mazzasette, C., Glascock, J. J., Valdivia, D., Pyles, N., Crawford, T. O., Swoboda, K. J., Patitucci, T. N., Ebert, A. D., Sumner, C. J., Ko, C. P. & Lorson, C. L., Jul 15 2015, In: Human molecular genetics. 24, 14, p. 4094-4102 9 p.

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

  Open Access

  • Spinal Muscular Atrophy 100%
  • Astrocytes 70%
  • Motor Neurons 24%
  • Spinal Cord 13%
  • Motor Neuron Disease 10%
  60 Scopus citations

• Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

  Gonzaga-Jauregui, C., Harel, T., Gambin, T., Kousi, M., Griffin, L. B., Francescatto, L., Ozes, B., Karaca, E., Jhangiani, S. N., Bainbridge, M. N., Lawson, K. S., Pehlivan, D., Okamoto, Y., Withers, M., Mancias, P., Slavotinek, A., Reitnauer, P. J., Goksungur, M. T., Shy, M., Crawford, T. O., & 14 othersKoenig, M., Willer, J., Flores, B. N., Pediaditrakis, I., Us, O., Wiszniewski, W., Parman, Y., Antonellis, A., Muzny, D. M., Katsanis, N., Battaloglu, E., Boerwinkle, E., Gibbs, R. A. & Lupski, J. R., Aug 18 2015, In: Cell Reports. 12, 7, p. 1169-1183 15 p.

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

  Open Access

  • Population Biological Variation 100%
  • Exome 97%
  • Sequence Analysis 75%
  • Mutation 68%
  • Genes 32%
  130 Scopus citations

• Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

  Donkervoort, S., Hu, Y., Stojkovic, T., Voermans, N. C., Foley, A. R., Leach, M. E., Dastgir, J., Bolduc, V., Cullup, T., de Becdelièvre, A., Yang, L., Su, H., Meilleur, K., Schindler, A. B., Kamsteeg, E. J., Richard, P., Butterfield, R. J., Winder, T. L., Crawford, T. O., Weiss, R. B., & 3 othersMuntoni, F., Allamand, V. & Bönnemann, C. G., Jan 1 2015, In: Human mutation. 36, 1, p. 48-56 9 p.

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

  Open Access

  • Mosaicism 100%
  • Population Biological Variation 99%
  • Collagen 61%
  • Muscular Diseases 52%
  • Mutation 45%
  20 Scopus citations

• Non-aggregating tau phosphorylation by cyclin-dependent kinase 5 contributes to motor neuron degeneration in spinal muscular atrophy

  Miller, N., Feng, Z., Edens, B. M., Yang, B., Shi, H., Sze, C. C., Hong, B. T., Su, S. C., Cantu, J. A., Topczewski, J., Crawford, T. O., Ko, C. P., Sumner, C. J., Ma, L. & Ma, Y. C., Apr 15 2015, In: Journal of Neuroscience. 35, 15, p. 6038-6050 13 p.

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

  Open Access

  • Cyclin-Dependent Kinase 5 100%
  • Spinal Muscular Atrophy 88%
  • Nerve Degeneration 85%
  • Motor Neurons 65%
  • Phosphorylation 46%
  23 Scopus citations

• Smn1 and smn2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital pcr

  Stabley, D. L., Harris, A. W., Holbrook, J., Chubbs, N. J., Lozo, K. W., Crawford, T. O., Swoboda, K. J., Funanage, V. L., Wang, W., Mackenzie, W., Scavina, M., Sol-Church, K. & Butchbach, M. E. R., Jul 2015, In: Molecular Genetics and Genomic Medicine. 3, 4, p. 248-257 10 p.

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

  Open Access

  • Spinal Muscular Atrophy 100%
  • Motor Neurons 62%
  • Cell Line 45%
  • Polymerase Chain Reaction 22%
  • Motor Neuron Disease 16%
  32 Scopus citations