ThomasOwenCrawfordMD

PubMed

• Intrathecal Gene Therapy for Giant Axonal Neuropathy.
  Diana X Bharucha-Goebel, Joshua J Todd, Dimah Saade, Gina Norato, Minal Jain, Tanya Lehky, Rachel M Bailey, Jessica A Chichester, Roberto Calcedo, Diane Armao, A Regha...> ;The New England Journal of Medicine. 2024 Mar 21
• 3 citations
  Identifying Biomarkers of Spinal Muscular Atrophy for Further Development.
  Jacqueline Glascock, Basil T Darras, Thomas O Crawford, Charlotte J Sumner, Stephen J Kolb, Christine DiDonato, Bakri Elsheikh, Kelly Howell, Wildon Farwell, Marta Val...> ;Journal of Neuromuscular Diseases. 2023 Jan 1
• 8 citations
  Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.
  Thomas O Crawford, Kathryn J Swoboda, Darryl C De Vivo, Enrico Bertini, Wuh-Liang Hwu, Richard S Finkel, Janbernd Kirschner, Nancy L Kuntz, Aledie Navas Nazario, Julie...> ;Muscle & Nerve. 2023 Aug 1
• 7 citations
  Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG).
  Richard S Finkel, Basil T Darras, Jerry R Mendell, John W Day, Nancy L Kuntz, Anne M Connolly, Craig M Zaidman, Thomas O Crawford, Russell J Butterfield, Perry B Shieh...> ;Journal of Neuromuscular Diseases. 2023 Jan 1
• 4 citations
  Early treatment is a lifeline for infants with SMA.
  Charlotte J Sumner, Thomas O Crawford> ;Nature Medicine. 2022 Jul 1
• 12 citations
  Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
  Ortiz Guerrero, G., Megan A Waldrop, Steven A Moore, Katherine D Mathews, Benjamin W Darbro, Livja Medne, Richard Finkel, Anne M Connolly, Thomas O Crawford, Daniel Dr...> ;Human Mutation. 2022 Apr 1
• 6 citations
  TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function.
  Arens Taga, Benedikt Goretzki, Thomas Q Gallagher, Ann Ritter, Amy Harper, Thomas O Crawford, Ute A Hellmich, Charlotte J Sumner, Brett A McCray, Peyton, M.> ;Annals of Clinical and Translational Neurology. 2022 Mar 1
• 10 citations
  Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
  Jorge Alonso-Pérez, Lidia Gonzalez-Quereda, Claudio Bruno, Chiara Panicucci, Afagh Alavi, Shahriar Nafissi, Yalda Nilipour, Edmar Zanoteli, Lucas Michielon de Augusto ...> ;Brain. 2021 Sep 13
• 6 citations
  Assuring long-term safety of highly effective gene-modulating therapeutics for rare diseases.
  Thomas O. Crawford, Charlotte J. Sumner> ;The Journal of Clinical Investigation. 2021 Aug 2
• 9 citations
  Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives.
  Sharon A McGrath-Morrow, Cynthia C Rothblum-Oviatt, Jennifer Wright, Haley Schlechter, Maureen A. Lefton-Greif, Valerie A. I. Natale, Thomas O. Crawford, Howard M. Led...> ;Journal of Multidisciplinary Healthcare. 2021 Jun 28
• 7 citations
  Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic...
  Christopher Grunseich, Nathan Sarkar, Joyce Lu, Mallory Owen, Alice B. Schindler, Peter A. Calabresi, Charlotte J. Sumner, Ricardo H. Roda, Vinay Chaudhry, Thomas E. L...> ;Journal of Neurology, Neurosurgery, and Psychiatry. 2021 Jun 8
• Correction to: Growth in ataxia telangiectasia.
  Valerie A. I. Natale, Tim J Cole, Cynthia Rothblum-Oviatt, Jennifer Wright, Thomas O. Crawford, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Haley Schlechter, Ho...> ;Orphanet Journal of Rare Diseases. 2021 Jun 1
• 174 citations
  Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, ...
  John W. Day, Richard S. Finkel, Claudia A. Chiriboga, Anne M. Connolly, Thomas O. Crawford, Basil T. Darras, Susan T. Iannaccone, Nancy L. Kuntz, Loren D M Pena, Perry...> ;The Lancet. Neurology. 2021 Apr 1
• 9 citations
  Growth in ataxia telangiectasia
  Valerie A. I. Natale, Tim J Cole, Cynthia Rothblum-Oviatt, Jennifer Wright, Thomas O. Crawford, Maureen A. Lefton-Greif, Sharon A. McGrath-Morrow, Haley Schlechter, Ho...> ;Orphanet Journal of Rare Diseases. 2021 Mar 10
• 48 citations
  Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study.
  Gyula Acsadi, Thomas O. Crawford, Wolfgang Müller-Felber, Perry B. Shieh, Randal C. Richardson, Niranjana Natarajan, Diana Castro, Daniela Ramirez-Schrempp, Giulia Gam...> ;Muscle & Nerve. 2021 Feb 16
• 43 citations
  Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA
  Lingling Kong, David Valdivia, Christian M. Simon, Cera W. Hassinan, Nicolas Delestrée, Daniel M. Ramos, Jae Hong Park, Celeste M. Pilato, Xixi Xu, Melissa E. Crowder,...> ;Science Translational Medicine. 2021 Jan 27
• 60 citations
  Acute flaccid myelitis: cause, diagnosis, and management.
  Olwen C. Murphy, Kevin Messacar, Leslie Benson, Riley Bove, Jessica L. Carpenter, Thomas O. Crawford, Janet Dean, Roberta L. DeBiasi, Jay Desai, Matthew J. Elrick, Raq...> ;Lancet. 2021 Jan 23
• 9 citations
  Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR
  Deborah L. Stabley, Jennifer Holbrook, Mena Scavina, Thomas O. Crawford, Kathryn J. Swoboda, Katherine M. Robbins, Matthew E.R. Butchbach> ;Neurogenetics. 2021 Jan 7
• 1 citations
  Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia.
  Sei Gyung K. Sze, Howard M. Lederman, Thomas O. Crawford, Michael F. Wangler, Andrea M. Lewis, Michael B. Kastan, Harpreet Dibra, Alex M. Taylor, Daniel S. Wechsler> ;Journal of Pediatric Hematology/oncology. 2021 Jan 1
• 2 citations
  The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases
  Noam Auslander, Daniel M. Ramos, Ivette Zelaya, Hiren Karathia, Thomas O. Crawford, Alejandro A. Schäffer, Charlotte J. Sumner, Eytan Ruppin> ;Molecular Systems Biology. 2020 Dec 1
• 74 citations
  Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2
  Jacqueline J. Glascock, Jacinda B. Sampson, Anne M. Connolly, Basil T. Darras, John W. Day, Richard S. Finkel, R. Rodney Howell, Katherine W. Klinger, Nancy L. Kuntz, ...> ;Journal of Neuromuscular Diseases. 2020 Jan 1
• 88 citations
  Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment
  , , , , , , , , , , , , , , , , , , , , > ;The Journal of Clinical Investigation. 2019 Nov 1
• 318 citations
  Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.
  Darryl C. De Vivo, Enrico Bertini, Kathryn J. Swoboda, Wuh-Liang Hwu, Thomas O. Crawford, Richard S. Finkel, Janbernd Kirschner, Nancy L. Kuntz, Julie A. Parsons, Moni...> ;Neuromuscular Disorders. 2019 Sep 12
• 1 citations
  Description of Restrictively Defined Acute Flaccid Myelitis-Reply.
  Matthew J. Elrick, Thomas O. Crawford, Carlos A. Pardo> ;JAMA Pediatrics. 2019 Jul 1
• 122 citations
  Neurofilament as a potential biomarker for spinal muscular atrophy
  Basil T. Darras, Thomas O. Crawford, Richard S. Finkel, Eugenio Mercuri, Darryl C. De Vivo, Maryam Oskoui, Eduardo F. Tizzano, Monique M. Ryan, Francesco Muntoni, Guol...> ;Annals of Clinical and Translational Neurology. 2019 Apr 17
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Journal Articles

• Cerebral abnormalities in adults with ataxia telangiectasia  
  Lin DDM, Barker PB, Lederman HM, Crawford TO, Am J Neuroradiol, 1/1/2014
• Pulmonary function in children and young adults with ataxia-telangiectasia  
  McGrath-Morrow S, Lederman HM, Aherrera AD, Lefton-Greif MA, Crawford TO, Ryan R, Wright J, Collaco JM, Pediatr Pulmonol, 1/1/2014
• Susceptibility-weighted imaging in Cockayne syndrome  
  Wagner MW, Poretti A, Wang T, Crawford TO, Huisman TAGM, Bosemani T, J Pediatr, 1/1/2014
• High-dose glucocorticoid therapy in the management of seizures in neontatal incontinentia pigmenti: A case report  
  Wolf DS, Golden WC, Hoover-Fong J, Applegate C, Cohen BA, Germain-Lee EL, Goldberg MF, Crawford TO, Gauda EB, J Child Neurol, 1/1/2014
• SMA-MAP: A plasma protein biomarker panel for spinal muscular atrophy  
  Kobayashi DT, Shi J, Stephen L, Ballard KL, Dewey R, Mapes J, Chung B, McCarthy K, Swoboda KJ, Crawford TO, Li R, Plasterer T, Joyce C and the Biomarkers for SMA Study..., PloS One, 1/1/2013
• Effects of 4-aminopyridine on nystagmus and vestibulo-ocular reflex in ataxia-telangiectasia  
  Shaikh AG, Marti S, Tamutzer AA, Palla A, Crawford TO, Zee DS, Straumann D, J Neurol, 1/1/2013
• SMN is essential for the biogenesis of U7 small nuclear ribonucleoprotein and 3’-end formation of histone mRNAs  
  Tisdale S, Lotti, F, Saieva L, Van Meerbeke JP, Crawford TO, Sumner CJ, Mentis GZ, Pellizzoni L, Cell Reports, 1/1/2013
• Spinal muscular atrophy biomarker discovery project: candidate proteins, metabolites, and transcripts  
  Finkel RS, Crawford TO, Kaufmann P, Swoboda KJ, Juhasz P, Li X, Li RH, Trachtenberg F, Tiziano FD, Lomastro R, Paushkin S, Kobayashi DT, Forrest S, Chen KDS, Joyce C, ..., PloS One, 1/1/2012
• Loss of sarcolemmal nNOS is common in acquired and inherited neuromuscular disorders  
  Finanger Hedderick ELF, Simmers JL, Soleimani A, Andres-Mateos E, Marx R, Files DC, King L, Crawford TO, Corse AM, Cohn RD, Neurology, 1/1/2011
• Ataxia-telangiectasia: a “disease model” to understand the cerebellar control of vestibular reflexes  
  Shaikh AG, Marti S, Tarnutzer AA, Palla A, Crawford TO, Straumann D, Carey JP, Nguyen KD, Zee DS, J Neurophysiol, 1/1/2011
• Proteomic characterization of cererospinal fluid from ataxia-telangiectasia (A-T) patients using a LC/MS-based label-free protein quantification technology  
  Dzieciatkowska M, Qi G, You J, Bemis KG, Sahm H, Lederman HM, Crawford TO, Gelbert LM, Rothblum-Oviatt C, Wang M, Int J Proteomics, 1/1/2011
• Elevated serum IL-8 in ataxia telangiectasia  
  McGrath-Morrow SA, Collaco JM, Rosquist K, Green D, Crawford TO, Carson KA, Lefton-Greif MA, Zeitlin P, Lederman HM, J Pediatr, 1/1/2010
• Electroconvulsive therapy for pediatric malignant catatonia with cerebellar dysgenesis  
  Wachtel LE, Crawford TO, Dhossche DM, Reti IM, Ped Neurol, 1/1/2010
• Gaze fixation deficits and their implication in ataxia-telangiectasia  
  Shaikh AG, Marti S, Tarnutzer AA, Palla A, Crawford TO, Straumann D, Taylor AM, Zee DS, J Neurol Neurosurg Psychiatry, 1/1/2009
• Emerging treatment options for spinal muscular atrophy  
  Burnett BG, Crawford TO, Sumner CJ, Curr Treat Options in Neurol, 1/1/2009
• Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle specific SMN expression has no phenotypic effect  
  Gavrilina TO, McGovern VL, Workman E, Crawford TO, Gogliotti RG, Didonato CJ, Monani UR, Morris GE, Burghes HM, Hum Mol Genet, 1/1/2008
• Extrapyramidal signs in normal pressure hydrocephalus: an objective assessment  
  Mandir AS, Jilfiker J, Thomas G, Minahan RE, Crawford TO, Williams MA, Rigamonti D, Cerebrospinal Fluid Res, 1/1/2007
• Consensus statement for standard of care in spinal muscular atrophy  
  Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, Aioysius A, Morrison L, Main M, Crawford TO, Treja A, J Child Neurol, 1/1/2007
• Perspectives on clinical trials in spinal muscular atrophy  
  Swoboda KJ, Kissel JT, Crawford TO, Bromberg MB, Acsadi G, D'Anjou G, Krosschell KJ, Reyna SP, Schroth MK, Scott CB, Simard LR, J Child Neurol, 1/1/2007
• Survival probability in ataxia telangiectasia  
  Crawford TO, Skolasky RL, Fernandez R, Rosquist KJ, Lederman HM, Arch Dis Child, 1/1/2006
• Peripheral pathways regulate motoneuron collateral dynamics  
  Redett R, Jari R, Crawford T, Chen Y-G, Rohde C, Brushart TM, J Neurosci, 1/1/2005
• Cellular Fate of Truncated Slow Skeletal Muscle Troponin T Produced by Glu_180 Nonsense Mutation in Amish Nemaline Myopathy  
  Wang X, Huang Q-Q, Breckenridge MT, Chen A, Crawford TO, Morton DJ, Jin J-P, J Biol Chem, 1/1/2004
• Concern about the design of clinical trial for SMA  
  Crawford TO, Neuromuscul Disord, 1/1/2004
• Proton magnetic resonance spectroscopy in the diagnostic evaluation of suspected mitochondrial diseases  
  Lin DDM, Crawford TO, Barker PB, Am J Neuroradiol, 1/1/2003
• Human embryonic germ cell derivatives facilitate motor recover of rats with diffuse motor neuron injury  
  Kerr DA, Llado J, Shamblott MJ, Maragakis NJ, Irani DN, Crawford TO, Krishnan C, Dike S, Gearhart JD, Rothstein JD, J. Neurosci, 1/1/2003
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Books/Book Chapters

• Handbook of Pediatric Orthopedics 
  Chapter: Neuromuscular disorders in Pediatric Orthopedics 
  Sponseller PD, Crawford TOEditors: Sponseller PD.Thieme Medical Publishers, New York, NYEdition 2nd,2011
• Spinocerebellar degenerations: the ataxias and spastic paraplegias 
  Chapter: Ataxia Telangiectasia 
  Crawford TO, Shiloh YEditors: Brice A, Pulst S-M.Butterworth Heinemann Elsevier, Philadelphia, PA2007
• Neurodegenerative Diseases: Neurobiology Pathogenesis and therapeutics 
  Chapter: Ataxia Telangiectasia 
  Gatti RA, Crawford TO, Mandir AS, Perlman S, Mount HTJEditors: Beal MF, Lang AE, Ludolph A.Cambridge University Press, Cambridge2005
• Neuromuscular Disorders of Infancy, Childhood and Adolescence: A Clinician’s Approach 
  Chapter: Infant Botulism 
  Crawford TOEditors: Jones HR, De Vivo DC, Darras BT.Butterworth Heinemann, Philadelphia, PA2003
• Clinical Neurophysiology and Neuromuscular Diseases 
  Chapter: The spinal muscular atrophies and other disorders of the anterior horn cell 
  Crawford TO, Jones HREditors: Brown WF, Bolton CF, Aminoff MJ.W.B. Saunders, Co, Philadelphia, PA2002
• Neurology in Clinical Practice 
  Chapter: The Floppy Infant 
  Crawford TOEditors: Bradley WG, Daroff RB, Fenichel GM, Marsden CD.Butterworth-Heinemann, Philadelphia, PA1999
• The Neurology of Aids 
  Chapter: Peripheral neuropathies associated with HIV infection 
  Griffin JH, Crawford TO, McArthur JCEditors: Gendelman HE, Lipton SA, Epstein L, Swindells S.Chapman & Hall, New York, NY1998
• Neurodevelopmental Disabilities in Infancy and Childhood 
  Chapter: Neuromuscular disorders 
  Crawfort TOEditors: Capute AJ, Pasquale PJ.Paul H Brookes Publishing Co, Baltimore, MDEdition 2nd,1996
• Textbook of Pediatric Critical Care 
  Chapter: Respiratory failure and other complications of neuromuscular disease 
  Crawford TOEditors: Holbrook, PR.W.B. Saunders, Co, Philadelphia, PA1993
• Diseases of the Nervous System 
  Chapter: Motor neuron diseases 
  Kuncl RW, Crawford TO, Rothstein JD, Drachman DBEditors: Asbury AK, McKhann GM, McDonald WI.W.B. Saunders Co, Philadelphia, PAEdition 2nd,1991
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Lectures

• What is Static, What is Degenerative and how can we measure each? 
  7/1/2013
• Challenges in Drug Discovery for Ataxia Telangiectasia 
  11/1/2012
• Instrumented and non-instrumented assessments 
  6/1/2012
• Plenary Address: Clinical Science of Ataxia Telangiectasia: Status Quo and Future Directions 
  10/1/2011
• Proof-of-Concept Trial Design and Conduct, Clinical Trial Feasibility and Conduct Issues for SMA 
  10/1/2010
• State of the Art in Biomarker Development in Spinal Muscular Atrophy 
  9/1/2010
• Keynote Address: The Floppy Infant, and one special story 
  4/1/2010
• Ataxia Telangiectasia: developmental and degenerative features 
  4/1/2010
• Spinal muscular atrophy: A ten million, one hundred, ~ ten, ~one, and 0.1 year perspective 
  12/1/2009
• Evaluating the child with muscle weakness 
  10/1/2009
• Assessment of Ataxia Telangiectasia: Clinical Scale Development 
  5/1/2009
• Ataxia Telangiectasia; Spinal Muscular Atrophy; The Genetics of Neuromuscular Disease 
  5/1/2008
• Differential Diagnosis of the Hypotonic Infant Presenting for Muscle Biopsy 
  5/1/2008
• Neurology Goings-On from the Hopkins A-T Clinical Center 
  4/1/2008
• Toxic Neuropathy; What’s Happening in SMA 
  10/1/2007
• Neurologic Problems in Children with Ataxia Telangiectasia 
  4/1/2006
• Neuromuscular Transmission Defects 
  10/1/2005
• Features of Cerebellar and Extrapyramidal Impairment in A-T, and Insights into the Pathogenesis of A-T from Long-term Neurologic Follow Up 
  10/1/2004
• Ataxia Telangiectasia 
  10/1/2004
• The Neurology of Ataxia Telangiectasia 
  2/1/2004
• Insights into pathogenesis from the clinic 
  9/1/2003
• Congenital Cerebellar Abnormalities in Ataxia Telangiectasia 
  5/1/2002
• Spinal Muscular Atrophy 
  9/1/2001
• The Neurologist’s Agenda for Research 
  11/1/2000
• Neuromuscular Diseases of Children 
  10/1/2000
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