Petra Kaufmann

Summary

Affiliation: Columbia University
Country: USA

Publications

  1. ncbi request reprint Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial
    P Kaufmann
    Department of Neurology, Columbia University, New York 10032, USA
    Neurology 66:324-30. 2006
  2. ncbi request reprint Excellent inter-rater, intra-rater, and telephone-administered reliability of the ALSFRS-R in a multicenter clinical trial
    Petra Kaufmann
    Department of Neurology, The Eleanor and Lou Gehrig MDA ALS Research Center, College of Physicians and Surgeons, New York, NY, USA
    Amyotroph Lateral Scler 8:42-6. 2007
  3. doi request reprint Clinical trials in spinal muscular atrophy
    Petra Kaufmann
    The Neurological Institute, Columbia University, 710 West 168th Street, NY 10032, USA
    Phys Med Rehabil Clin N Am 19:653-60, xii. 2008
  4. doi request reprint Protean phenotypic features of the A3243G mitochondrial DNA mutation
    Petra Kaufmann
    Department of Neurology, The Neurological Institute, Columbia University Medical Center, New York, NY 10032, USA
    Arch Neurol 66:85-91. 2009
  5. pmc Phase II trial of CoQ10 for ALS finds insufficient evidence to justify phase III
    Petra Kaufmann
    Department of Neurology, Clinical Coordinating Center, Columbia University, New York, NY 10032, USA
    Ann Neurol 66:235-44. 2009
  6. pmc Issues in SMA clinical trial design. The International Coordinating Committee (ICC) for SMA Subcommittee on SMA Clinical Trial Design
    P Kaufmann
    Department of Neurology, Columbia University, New York, NY, USA, and Hammersmith Hospital, London, UK
    Neuromuscul Disord 17:499-505. 2007
  7. ncbi request reprint The ALSFRSr predicts survival time in an ALS clinic population
    P Kaufmann
    Department of Neurology, College of Physicians and Surgeons, The Neurologic Institute, Columbia University, 710 W 168th Street, New York, NY 10032, USA
    Neurology 64:38-43. 2005
  8. ncbi request reprint Objective tests for upper motor neuron involvement in amyotrophic lateral sclerosis (ALS)
    P Kaufmann
    Eleanor and Lou Gehrig MDA ALS Research Center, Neurologic Institute, Department of Neurology, Columbia University, New York 10032, USA
    Neurology 62:1753-7. 2004
  9. ncbi request reprint Amyotrophic lateral sclerosis: objective upper motor neuron markers
    Petra Kaufmann
    Neurological Institute, 9th Floor, 710 West 168th Street, New York, NY 10032, USA
    Curr Neurol Neurosci Rep 2:55-60. 2002
  10. pmc Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype
    P Kaufmann
    The Neurological Institute, Columbia University, 710 W 168th Street, New York, NY 10032, USA
    Neurology 77:1965-71. 2011

Detail Information

Publications66

  1. ncbi request reprint Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial
    P Kaufmann
    Department of Neurology, Columbia University, New York 10032, USA
    Neurology 66:324-30. 2006
    ..To evaluate the efficacy of dichloroacetate (DCA) in the treatment of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)...
  2. ncbi request reprint Excellent inter-rater, intra-rater, and telephone-administered reliability of the ALSFRS-R in a multicenter clinical trial
    Petra Kaufmann
    Department of Neurology, The Eleanor and Lou Gehrig MDA ALS Research Center, College of Physicians and Surgeons, New York, NY, USA
    Amyotroph Lateral Scler 8:42-6. 2007
    ..97 (95% CI 0.93-0.98). We conclude that the ALSFRS-R shows excellent inter- and intra-rater reliability, and reliability of telephone administration when used as primary outcome measure in a multicenter ALS trial...
  3. doi request reprint Clinical trials in spinal muscular atrophy
    Petra Kaufmann
    The Neurological Institute, Columbia University, 710 West 168th Street, NY 10032, USA
    Phys Med Rehabil Clin N Am 19:653-60, xii. 2008
    ..SMA is rare but is a common orphan disease, so trials should be feasible, raising the hope that we will find effective treatments for this disorder...
  4. doi request reprint Protean phenotypic features of the A3243G mitochondrial DNA mutation
    Petra Kaufmann
    Department of Neurology, The Neurological Institute, Columbia University Medical Center, New York, NY 10032, USA
    Arch Neurol 66:85-91. 2009
    ....
  5. pmc Phase II trial of CoQ10 for ALS finds insufficient evidence to justify phase III
    Petra Kaufmann
    Department of Neurology, Clinical Coordinating Center, Columbia University, New York, NY 10032, USA
    Ann Neurol 66:235-44. 2009
    ..Our aims were to choose between two high doses of CoQ10 for ALS, and to determine if it merits testing in a Phase III clinical trial...
  6. pmc Issues in SMA clinical trial design. The International Coordinating Committee (ICC) for SMA Subcommittee on SMA Clinical Trial Design
    P Kaufmann
    Department of Neurology, Columbia University, New York, NY, USA, and Hammersmith Hospital, London, UK
    Neuromuscul Disord 17:499-505. 2007
  7. ncbi request reprint The ALSFRSr predicts survival time in an ALS clinic population
    P Kaufmann
    Department of Neurology, College of Physicians and Surgeons, The Neurologic Institute, Columbia University, 710 W 168th Street, New York, NY 10032, USA
    Neurology 64:38-43. 2005
    ..To determine whether the Amyotrophic Lateral Sclerosis Functional Rating Scale-revised (ALSFRSr), a predictor of survival time in ALS clinical trials, predicts survival time in an ALS clinic population...
  8. ncbi request reprint Objective tests for upper motor neuron involvement in amyotrophic lateral sclerosis (ALS)
    P Kaufmann
    Eleanor and Lou Gehrig MDA ALS Research Center, Neurologic Institute, Department of Neurology, Columbia University, New York 10032, USA
    Neurology 62:1753-7. 2004
    ..To develop objective markers for upper motor neuron (UMN) involvement in ALS, the value of single-voxel MR spectroscopy (MRS) and transcranial magnetic stimulation (TMS) was studied...
  9. ncbi request reprint Amyotrophic lateral sclerosis: objective upper motor neuron markers
    Petra Kaufmann
    Neurological Institute, 9th Floor, 710 West 168th Street, New York, NY 10032, USA
    Curr Neurol Neurosci Rep 2:55-60. 2002
    ..This article reviews the progress that has been made over the past two decades towards establishing valid diagnostic and natural history markers of upper motor neuron involvement in ALS...
  10. pmc Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype
    P Kaufmann
    The Neurological Institute, Columbia University, 710 W 168th Street, New York, NY 10032, USA
    Neurology 77:1965-71. 2011
    ..To describe the natural history of clinical and laboratory features associated with the m.3243A>G mitochondrial DNA point mutation. Natural history data are needed to obtain prognostic information and for clinical trial planning...
  11. doi request reprint Muscle volume estimation by magnetic resonance imaging in spinal muscular atrophy
    Douglas M Sproule
    Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, New York 10032 3791, USA
    J Child Neurol 26:309-17. 2011
    ..14) than type 3. Reproducibility, tolerability, and strong correlation with clinical measures make magnetic resonance imaging a candidate biomarker for clinical research...
  12. pmc Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy
    Douglas M Sproule
    Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, NY 10032 3791, USA
    Neuromuscul Disord 20:448-52. 2010
    ....
  13. ncbi request reprint Nerve conduction abnormalities in patients with MELAS and the A3243G mutation
    Petra Kaufmann
    Department of Neurology, Columbia University, 710 W 168th Street, New York, NY 10032, USA
    Arch Neurol 63:746-8. 2006
    ..Neuropathy has been associated with several mitochondrial diseases, including MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes)...
  14. pmc Prospective cohort study of spinal muscular atrophy types 2 and 3
    Petra Kaufmann
    Department of Neurology, Columbia University, New York, USA
    Neurology 79:1889-97. 2012
    ..To characterize the natural history of spinal muscular atrophy type 2 and type 3 (SMA 2/3) beyond 1 year and to report data on clinical and biological outcomes for use in trial planning...
  15. doi request reprint Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation
    Timothy Parsons
    Department of Neurology, Columbia University, 710 W 168th St, New York, NY 10032, USA
    Arch Neurol 67:976-9. 2010
    ..The m.3243A>G mutation can cause multisystem medical problems and can affect the autonomic nervous system...
  16. doi request reprint A novel tRNA(Val) mitochondrial DNA mutation causing MELAS
    Kurenai Tanji
    Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, NY, USA
    J Neurol Sci 270:23-7. 2008
    ..We report here a novel tRNA(Val) mutation in a 37-year-old woman with manifestations of MELAS, and compare her clinicopathological phenotype with other rare cases associated tRNA(Val) mutations...
  17. pmc Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS
    Mahsa Mehrazin
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
    Am J Med Genet A 149:584-7. 2009
    ..This study suggests that A3243G mutant load in DNA isolated from blood is neither useful for prognosis nor for functional assessment...
  18. doi request reprint Age at disease onset predicts likelihood and rapidity of growth failure among infants and young children with spinal muscular atrophy types 1 and 2
    Douglas M Sproule
    Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, NY 10032 3791, USA
    J Child Neurol 27:845-51. 2012
    ..Most late onset (> 6 months) subjects avoided growth failure. Early clinical symptoms predict feeding dysfunction and growth failure. Immediate, proactive nutritional intervention is indicated for patients with early symptom onset...
  19. doi request reprint Thigh muscle volume measured by magnetic resonance imaging is stable over a 6-month interval in spinal muscular atrophy
    Douglas M Sproule
    Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, NY 10032 3791, USA
    J Child Neurol 26:1252-9. 2011
    ..Relative constancy of muscle volume estimation and correlation with established functional measures suggest a role for segmental magnetic resonance imaging as a biomarker of treatment effect in future therapeutic trials...
  20. doi request reprint Web-based data management for a phase II clinical trial in ALS
    Richard Buchsbaum
    Department of Biostatistics, Mailman School of Public Health, Columbia University, 722 West 168th Street, New York, NY 10032, USA
    Amyotroph Lateral Scler 10:374-7. 2009
    ..Given sufficient resources, a comprehensive web-based data management system can meet the need for clean, available data in clinical trials in ALS and similar diseases, and can contribute significantly to their efficient execution...
  21. doi request reprint Body mass index (BMI) as predictor of ALSFRS-R score decline in ALS patients
    Ronit Reich-Slotky
    Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY, USA
    Amyotroph Lateral Scler Frontotemporal Degener 14:212-6. 2013
    ..These results indicate that previous, apparently contradictory results can be reconciled, and suggest that initial BMI may help predict disease progression in ALS patients...
  22. doi request reprint Independent mobility after early introduction of a power wheelchair in spinal muscular atrophy
    Sally Dunaway
    Neurology Department, Columbia University Medical Center, New York, NY 10032, USA
    J Child Neurol 28:576-82. 2013
    ..9 months (range: 73-458 days). Introduction of early power mobility is feasible in spinal muscular atrophy patients under age 2 years and should be introduced in late infancy when children typically acquire locomotor skills...
  23. ncbi request reprint Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis
    Sara Shanske
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
    Am J Med Genet A 130:134-7. 2004
    ..We conclude that urinary sediment and cheek mucosa are tissues of choice for the diagnosis of mtDNA mutations, as they are easy to obtain and the mutation load is almost always greater than in blood...
  24. doi request reprint Reliability of telephone administration of the PedsQL Generic Quality of Life Inventory and Neuromuscular Module in spinal muscular atrophy (SMA)
    Sally Dunaway
    SMA Clinical Research Center, Columbia University Medical Center, New York, NY, USA
    Neuromuscul Disord 20:162-5. 2010
    ..Notably, telephone administration is reliable in children as young as 8 years...
  25. pmc Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year
    Petra Kaufmann
    Department of Neurology, Columbia University, 710 W 168th St, 2nd Floor, New York, NY 10032, USA
    Arch Neurol 68:779-86. 2011
    ..To characterize the short-term course of spinal muscular atrophy (SMA) in a genetically and clinically well-defined cohort of patients with SMA...
  26. ncbi request reprint Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF
    Ali B Naini
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Arch Neurol 62:473-6. 2005
    ....
  27. doi request reprint Bioelectrical impedance analysis can be a useful screen for excess adiposity in spinal muscular atrophy
    Douglas M Sproule
    Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, New York 10032 3791, USA
    J Child Neurol 25:1348-54. 2010
    ..Although insufficiently accurate for use as a research tool, bioelectrical impedance can have application as a well-tolerated, noninvasive, easily used screening tool for excess adiposity in patients with spinal muscular atrophy...
  28. doi request reprint Design and evaluation of a hybrid passive and active gravity neutral orthosis (GNO)
    Benjamin Koo
    Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, NY 10032 USA
    Conf Proc IEEE Eng Med Biol Soc 2009:1573-6. 2009
    ..The goal of this project is the development and evaluation of a mechanical arm orthosis to both encourage and assist functional arm movement while providing the user a sense of independence and control over one's own body...
  29. doi request reprint Clinical outcome measures in spinal muscular atrophy
    Jacqueline Montes
    Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
    J Child Neurol 24:968-78. 2009
    ..Following is an evidence-based review of available clinical outcome measures in spinal muscular atrophy...
  30. ncbi request reprint Amyotrophic lateral sclerosis and primary lateral sclerosis: evidence-based diagnostic evaluation of the upper motor neuron
    Stephen Chan
    Department of Radiology, Columbia University, New York Presbyterian Hospital, Milstein Hospital Building, 3rd Floor, 177 Fort Washington Avenue, New York, NY 10032, USA
    Neuroimaging Clin N Am 13:307-26. 2003
    ..Newer MR tools, such as diffusion tensor imaging, magnetization transfer imaging, and functional MR imaging, have substantial promise as scientific and clinical tools in this ongoing endeavor...
  31. doi request reprint An integrated motion capture system for evaluation of neuromuscular disease patients
    Viktor Gamarnik
    Biomedical Engineering Department, Columbia University, New York, NY 10027, USA
    Conf Proc IEEE Eng Med Biol Soc 2009:218-21. 2009
    ..The highly interdisciplinary effort has led to significant progress toward the implementation of a new device, which is accurate, clinically relevant, and highly affordable...
  32. ncbi request reprint A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis
    Conrad L Leung
    Departments of Pathology, College of Physicians and Surgeons, Columbia University, NewYork, NY 10032, USA
    Brain Pathol 14:290-6. 2004
    ..Moreover, the neurofilament light (NF-L) protein was not able to rescue the mutant protein from forming aggregates. These data imply that mutation of PRPH is a contributing factor for ALS...
  33. doi request reprint Experience with the Awaji Island modifications to the ALS diagnostic criteria
    Amy Chen
    Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA
    Muscle Nerve 42:831-2. 2010
    ....
  34. ncbi request reprint Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox"
    Ali Naini
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    J Neurol Sci 229:187-93. 2005
    ..We discuss the depressed citrulline levels in MELAS patients, who have an unusual and paradoxical pattern of vascular respiratory chain expression, in the context of NO homeostasis...
  35. pmc Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy
    Douglas M Sproule
    Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, Harkness Pavilion, HP 514, 180 Fort Washington Avenue, New York, NY 10032 3791, USA
    Neuromuscul Disord 19:391-6. 2009
    ..Children with SMA have reduced lean and increased fat mass compared to healthy children. Obesity is a potentially important modifiable source of morbidity in SMA...
  36. doi request reprint Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome
    Douglas M Sproule
    Columbia University, Pediatric Neurology, 180 Fort Washington Ave, Harkness Pavilion, 5th Floor, New York, NY 10032, USA
    Ann N Y Acad Sci 1142:133-58. 2008
    ..Although therapeutic options for MELAS and other mitochondrial diseases remain limited, and recent trials have been disappointing, we also consider current and potential therapeutic modalities...
  37. doi request reprint Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females
    George Stratigopoulos
    Department of Pediatrics, Columbia University, New York, NY 10032, USA
    Arch Neurol 67:1252-6. 2010
    ..To investigate the potential association of plastin 3 (PLS3) expression levels in the blood with disease severity in spinal muscular atrophy (SMA)...
  38. doi request reprint Association of autistic spectrum disorders with dystrophinopathies
    Veronica J Hinton
    Gertrude H Sergievsky Center, Columbia University, New York, NY, USA
    Pediatr Neurol 41:339-46. 2009
    ..Increased attention to behavioral concerns associated with dystrophinopathies is necessary to ensure the well-being of the whole family...
  39. ncbi request reprint Cerebral lactic acidosis correlates with neurological impairment in MELAS
    P Kaufmann
    Department of Neurology, Columbia University, New York, NY 10032, USA
    Neurology 62:1297-302. 2004
    ..To evaluate the role of chronic cerebral lactic acidosis in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)...
  40. pmc Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy
    J Montes
    SMA Clinical Research Center, Department of Neurology, Columbia University, 180 Ft Washington Ave, 5th Floor, New York, NY 10032, USA
    Neurology 74:833-8. 2010
    ..The Six-Minute Walk Test (6MWT) is an objective, easily administered, and standardized evaluation of functional exercise capacity that has been proven reliable in other neurologic disorders and in children...
  41. ncbi request reprint Quantitative objective markers for upper and lower motor neuron dysfunction in ALS
    H Mitsumoto
    Eleanor and Lou Gehrig MDA ALS Research Center, Columbia University, New York, NY 10032, USA
    Neurology 68:1402-10. 2007
    ..To investigate the value of objective biomarkers for upper (UMN) and lower (LMN) motor neuron involvement in ALS...
  42. ncbi request reprint Development and evaluation of a self-administered version of the ALSFRS-R
    J Montes
    Eleanor and Lou Gehrig MDA ALS Research Center, Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY 10032
    Neurology 67:1294-6. 2006
    ..The self-administered ALSFRS-R showed excellent reliability (intraclass correlation = 0.93, 95% CI: 088 to 0.96) and similar sensitivity to change over time vs the standard evaluator-administered ALSFRS-R...
  43. doi request reprint A novel, efficient, randomized selection trial comparing combinations of drug therapy for ALS
    Paul H Gordon
    Department of Neurology, Columbia University, New York, USA
    Amyotroph Lateral Scler 9:212-22. 2008
    ..This phase II design was efficient, leading to treatment selection after just 60 patients, and can be used in other phase II trials to assess different agents...
  44. pmc Historical underpinnings of the term essential tremor in the late 19th century
    E D Louis
    GH Sergievsky Center, Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA
    Neurology 71:856-9. 2008
    ..The term essential tremor has been in regular use since the second half of the 20th century. To modern neurologists, the word "essential" may seem cryptic. The historical underpinnings of this term have not been examined...
  45. ncbi request reprint Transcranial magnetic stimulation for upper motor neuron involvement in amyotrophic lateral sclerosis (ALS)
    H Mitsumoto
    Department of Neurology, Columbia University, New York, NY 10032, USA
    Suppl Clin Neurophysiol 59:327-32. 2006
  46. ncbi request reprint Randomized controlled phase II trial of glatiramer acetate in ALS
    P H Gordon
    Department of Neurology, Columbia University, NY, USA
    Neurology 66:1117-9. 2006
    ..01). Treated patients showed enhanced lymphocyte proliferation (p = 0.02). The safety profile and immune effects support conducting larger trials of dose selection and efficacy...
  47. ncbi request reprint A two-stage design for a phase II clinical trial of coenzyme Q10 in ALS
    G Levy
    Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY 10032, USA
    Neurology 66:660-3. 2006
    ..The combination of a small pool of patients at any given time with the availability of many potential neuroprotective agents to be tested in ALS requires efficient phase II trial designs...
  48. pmc Common data elements for clinical research in Friedreich's ataxia
    David R Lynch
    Department of Neurology, University of Pennsylvania and The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Mov Disord 28:190-5. 2013
    ..Their incorporation into new, ongoing studies will be assessed in an ongoing fashion to define their utility in FRDA...
  49. ncbi request reprint Wolff-Parkinson-White syndrome in Patients With MELAS
    Douglas M Sproule
    Division of Pediatric Neurology, Department of Neurology, Columbia University, New York, NY, USA
    Arch Neurol 64:1625-7. 2007
    ..Tissues with high energy demands, such as the heart, are susceptible to the effects of mitochondrial DNA point mutations...
  50. doi request reprint Fatigue leads to gait changes in spinal muscular atrophy
    Jacqueline Montes
    Department of Neurology, Columbia University Medical Center, 180 Ft Washington Avenue, Fifth Floor, New York, New York 10032, USA
    Muscle Nerve 43:485-8. 2011
    ..The 6-minute walk test (6MWT) is a reliable measure of fatigue in SMA patients. To further evaluate fatigue, we used quantitative gait analysis during the 6MWT...
  51. pmc SMA-MAP: a plasma protein panel for spinal muscular atrophy
    Dione T Kobayashi
    Spinal Muscular Atrophy Foundation, New York, New York, United States of America
    PLoS ONE 8:e60113. 2013
    ....
  52. doi request reprint Funding agencies and disease organizations: resources and recommendations to facilitate ALS clinical research
    David A Chad
    Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA
    Amyotroph Lateral Scler Frontotemporal Degener 14:62-6. 2013
    ....
  53. doi request reprint Scoliosis surgery in children with neuromuscular disease: findings from the US National Inpatient Sample, 1997 to 2003
    Alexandra I Barsdorf
    Division of Pediatric Neurosciences, Department of Neurology, Spinal Muscular Atrophy Clinical Research Center, Columbia University Medical Center, 180 Fort Washington Ave, New York, NY 10032 3791, USA
    Arch Neurol 67:231-5. 2010
    ..Scoliosis is a frequent complication of pediatric neuromuscular disease (NMD). Scoliosis surgery in children with NMD is thought to carry greater morbidity and mortality...
  54. ncbi request reprint Randomized control trials in ALS: lessons learned
    Hiroshi Mitsumoto
    The Eleanor and Lou Gehrig MDA ALS Research Center, Columbia University Medical Center, USA
    Amyotroph Lateral Scler Other Motor Neuron Disord 5:8-13. 2004
  55. pmc Efficiency perspectives on adaptive designs in stroke clinical trials
    Ken Cheung
    Department of Biostatistics, Columbia University, 722 W 168th Street, New York, NY 10032, USA
    Stroke 42:2990-4. 2011
    ..This understanding is critical to appreciate the limitations, as well as the full promise, of adaptive designs, so that investigators can deploy an appropriate statistical design--be it adaptive or not--in a clinical study...
  56. pmc Therapeutic developments in spinal muscular atrophy
    Douglas M Sproule
    Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, Harkness Pavilion, HP 514, 180 Fort Washington Avenue, New York, NY 10032 3791, USA
    Ther Adv Neurol Disord 3:173-85. 2010
    ..The recent advances in preclinical research and the development of a wider range of animal models for SMA continue to provide cautious optimism that effective treatments for SMA will eventually emerge...
  57. ncbi request reprint Clinical features and genetics of myoclonic epilepsy with ragged red fibers
    Salvatore DiMauro
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York, USA
    Adv Neurol 89:217-29. 2002
  58. ncbi request reprint A 14-year-old male with asymptomatic proteinuria and hearing loss
    Samih H Nasr
    Department of Pathology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
    Am J Kidney Dis 41:259-64. 2003
  59. ncbi request reprint Clinical course of a cohort in the Cuban epidemic optic and peripheral neuropathy
    D S Mojon
    Department of Ophthalmology, Columbia University College of Physicians and Surgeons, New York, NY, USA
    Neurology 48:19-22. 1997
    ..Patients with poor recovery or further deterioration should be evaluated for other factors, including poor vitamin therapy compliance and alternative diagnoses...
  60. ncbi request reprint The changing natural history of spinal muscular atrophy type 1
    M Oskoui
    Department of Neurology, Columbia University, New York, NY, USA
    Neurology 69:1931-6. 2007
    ..Noninvasive ventilation has become increasingly available to spinal muscular atrophy (SMA) patients since the early 1990 s. This is expected to have improved survival for SMA type 1 patients...
  61. ncbi request reprint ALS Research Group (ALSRG): second meeting, a summary report
    Petra Kaufmann
    Amyotroph Lateral Scler 7:252-5. 2006
  62. pmc Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery
    Katrina Gwinn
    National Institute for Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 2:e1254. 2007
    ..This resource should facilitate genetic discoveries which we anticipate will ultimately provide a better understanding of the biological mechanisms of neurodegeneration in ALS...
  63. ncbi request reprint Learning to walk: challenges for spinal muscular atrophy clinical trials
    Petra Kaufmann
    Neurology 68:11-2. 2007
  64. ncbi request reprint Muscle coenzyme Q10 level in statin-related myopathy
    Costanza Lamperti
    Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Unita Operativa, Neurologia, Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Maggiore Policlinico, University of Milan, Milan, Italy
    Arch Neurol 62:1709-12. 2005
    ..Coenzyme Q10 (CoQ10), a component of the mitochondrial respiratory chain, is also synthesized from mevalonate, and decreased muscle CoQ10 concentration may have a role in the pathogenesis of statin drug-related myopathy...
  65. ncbi request reprint Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutation
    Mubeen F Rafay
    Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario
    Can J Neurol Sci 32:316-20. 2005
    ..Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder which presents with recurrent myoglobinuria. Heterozygotes are usually asymptomatic...
  66. ncbi request reprint ALS treatment strikes out while trying for a homer: the topiramate trial
    Petra Kaufmann
    Neurology 61:434-5. 2003

Research Grants7

  1. Clinical Trial of High Dose Coenzyme Q10 in Amyotrophic lateral Sclerosis
    Petra Kaufmann; Fiscal Year: 2007
    ..A separate R01 grant proposal (QALS-STA T, PI JLP Thompson) has been submitted for conduct of the statistical operations. ..