David R Lynch

Summary

Affiliation: University of Pennsylvania
Country: USA

Publications

  1. pmc Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia
    Heather L Plasterer
    Repligen Corporation, Waltham, Massachusetts, United States of America
    PLoS ONE 8:e63958. 2013
  2. 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
  3. pmc Unanswered questions in Friedreich ataxia
    David R Lynch
    Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
    J Child Neurol 27:1223-9. 2012
  4. doi Management and therapy for cardiomyopathy in Friedreich's ataxia
    David R Lynch
    Department of Neurology, Children s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA
    Expert Rev Cardiovasc Ther 10:767-77. 2012
  5. doi A0001 in Friedreich ataxia: biochemical characterization and effects in a clinical trial
    David R Lynch
    Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Mov Disord 27:1026-33. 2012
  6. pmc Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design
    Lisa S Friedman
    Department of Neurology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Mov Disord 25:426-32. 2010
  7. pmc Anti-NMDA-receptor encephalitis: case series and analysis of the effects of antibodies
    Josep Dalmau
    Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Lancet Neurol 7:1091-8. 2008
  8. pmc NMDA receptor modulation by the neuropeptide apelin: implications for excitotoxic injury
    Denise R Cook
    Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    J Neurochem 118:1113-23. 2011
  9. pmc Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants
    Sean R Regner
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    J Child Neurol 27:1152-8. 2012
  10. ncbi Cytosolic catechols inhibit alpha-synuclein aggregation and facilitate the formation of intracellular soluble oligomeric intermediates
    Joseph R Mazzulli
    The Joseph Stokes Jr Research Institute, The Children s Hospital of Philadelphia and the University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    J Neurosci 26:10068-78. 2006

Detail Information

Publications68

  1. pmc Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia
    Heather L Plasterer
    Repligen Corporation, Waltham, Massachusetts, United States of America
    PLoS ONE 8:e63958. 2013
    ..Small molecule HDAC inhibitor compounds increase frataxin mRNA and protein levels, and have beneficial effects in animal models of FRDA...
  2. 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...
  3. pmc Unanswered questions in Friedreich ataxia
    David R Lynch
    Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
    J Child Neurol 27:1223-9. 2012
    ..In this review, we summarize these questions and propose testable hypotheses for their resolution...
  4. doi Management and therapy for cardiomyopathy in Friedreich's ataxia
    David R Lynch
    Department of Neurology, Children s Hospital of Philadelphia, Abramson Research Center, 3615 Civic Center Boulevard, CHOP, Philadelphia, PA 19104, USA
    Expert Rev Cardiovasc Ther 10:767-77. 2012
    ..The present artcle reviews the molecular basis of the disease, the clinical features of cardiomyopathy in Friedreich's ataxia and the upcoming therapies...
  5. doi A0001 in Friedreich ataxia: biochemical characterization and effects in a clinical trial
    David R Lynch
    Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Mov Disord 27:1026-33. 2012
    ..Longer studies will assess the reproducibility and persistence of neurologic benefit...
  6. pmc Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design
    Lisa S Friedman
    Department of Neurology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Mov Disord 25:426-32. 2010
    ..These results help to establish norms for progression in FRDA that can be useful in measuring the long-term success of therapeutic agents and defining sample-size calculations for double-blind clinical trials...
  7. pmc Anti-NMDA-receptor encephalitis: case series and analysis of the effects of antibodies
    Josep Dalmau
    Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Lancet Neurol 7:1091-8. 2008
    ..We aimed to analyse the clinical and immunological features of patients with the disorder and examine the effects of antibodies against NMDA receptors in neuronal cultures...
  8. pmc NMDA receptor modulation by the neuropeptide apelin: implications for excitotoxic injury
    Denise R Cook
    Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    J Neurochem 118:1113-23. 2011
    ..Defining apelin-mediated neuroprotection advances our understanding of neuroprotective pathways and will potentially improve our ability to develop therapeutics for excitotoxicity-associated neurodegenerative disorders...
  9. pmc Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants
    Sean R Regner
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    J Child Neurol 27:1152-8. 2012
    ..However, modeling of disease progression identified substantial ceiling effects in the Friedreich Ataxia Rating Scale, suggesting this measure is most useful in subjects before maximal deficit is approached...
  10. ncbi Cytosolic catechols inhibit alpha-synuclein aggregation and facilitate the formation of intracellular soluble oligomeric intermediates
    Joseph R Mazzulli
    The Joseph Stokes Jr Research Institute, The Children s Hospital of Philadelphia and the University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    J Neurosci 26:10068-78. 2006
    ..These data indicate that intraneuronal dopamine levels can be a major modulator of alpha-syn aggregation and inclusion formation, with important implications on the selective degeneration of these neurons in Parkinson's disease...
  11. ncbi Apelin, an endogenous neuronal peptide, protects hippocampal neurons against excitotoxic injury
    Lauren A O'Donnell
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    J Neurochem 102:1905-17. 2007
    ..Thus, apelin/APJ signaling likely represents an endogenous hippocampal neuronal survival response, and therefore apelin should be further investigated as a potential neuroprotectant against hippocampal injury...
  12. pmc Cellular and synaptic mechanisms of anti-NMDA receptor encephalitis
    Ethan G Hughes
    Department of Neuroscience, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    J Neurosci 30:5866-75. 2010
    ..The loss of this subtype of glutamate receptors eliminates NMDAR-mediated synaptic function, resulting in the learning, memory, and other behavioral deficits observed in patients with anti-NMDAR encephalitis...
  13. ncbi Cleavage of alpha-synuclein by calpain: potential role in degradation of fibrillized and nitrated species of alpha-synuclein
    Amanda J Mishizen-Eberz
    Department of Neurology, University of Pennsylvania and The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Biochemistry 44:7818-29. 2005
    ..These results provide insight into possible disease mechanisms underlying synucleinopathies since the formation of alpha-syn fibrils could be causally linked to the onset/progression of these disorders...
  14. pmc Fyn-mediated phosphorylation of NR2B Tyr-1336 controls calpain-mediated NR2B cleavage in neurons and heterologous systems
    Hai Yan Wu
    Departments of Pediatrics and Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA
    J Biol Chem 282:20075-87. 2007
    ..Thus, the Fyn-controlled regulation of NMDA receptor cleavage by calpain may play critical roles in controlling NMDA receptor properties during synaptic plasticity and excitotoxicity...
  15. pmc Cross-sectional analysis of electrocardiograms in a large heterogeneous cohort of Friedreich ataxia subjects
    Kimberly A Schadt
    Department of Pediatrics, Division of Neurology, Children s Hospital of Philadelphia, PA 19104, USA
    J Child Neurol 27:1187-92. 2012
    ..006 and P = .026 for left ventricular hypertrophy and P < .001 and P = .001 for right). Neurologic status as measured by the functional disability score did not predict ECG abnormalities...
  16. doi Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia
    Sean R Regner
    Department of Neurology, University of Pennsylvania, Medical School, Philadelphia, Pennsylvania, USA
    Am J Cardiol 109:401-5. 2012
    ....
  17. doi Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia
    Catherine A Stolle
    The Department of Pathology and Laboratory Medicine, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104 4318, USA
    Mov Disord 23:1303-6. 2008
    ..Our observations suggest that interrupted GAA repeats do not clearly impact the age of onset in FA...
  18. doi Analysis of the visual system in Friedreich ataxia
    Lauren A Seyer
    Department of Neurology, University of Pennsylvania Medical School, Philadelphia, PA, USA
    J Neurol 260:2362-9. 2013
    ..This suggests that such measures are useful markers of neurologic progression in FRDA...
  19. doi Mortality in Friedreich ataxia
    Amy Y Tsou
    Department of Neurology, University of Pennsylvania Medical School, USA
    J Neurol Sci 307:46-9. 2011
    ..Although cardiac dysfunction is widely accepted as the most common cause of mortality in Friedreich ataxia (FRDA), no studies have evaluated this since the advent of specific clinical and genetic diagnostic criteria...
  20. doi Elevation of serum cardiac troponin I in a cross-sectional cohort of asymptomatic subjects with Friedreich ataxia
    Lisa S Friedman
    Department of Pediatrics, Division of Neurology, Children s Hospital of Philadelphia, PA, United States
    Int J Cardiol 167:1622-4. 2013
    ..At present, baseline values of cardiac troponin I are unknown among Friedreich ataxia subjects...
  21. doi Health related quality of life measures in Friedreich Ataxia
    Elizabeth Epstein
    Department of Neurology, University of Pennsylvania School of Medicine, USA
    J Neurol Sci 272:123-8. 2008
    ..Findings of this study are consistent with the phenotypic characteristics of FA, and suggest that HRQOL measures are potentially useful as clinical markers of disease status in FA...
  22. pmc Axonal α7 nicotinic ACh receptors modulate presynaptic NMDA receptor expression and structural plasticity of glutamatergic presynaptic boutons
    Hong Lin
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 107:16661-6. 2010
    ....
  23. pmc Anti-NMDA receptor encephalitis antibody binding is dependent on amino acid identity of a small region within the GluN1 amino terminal domain
    Amy J Gleichman
    Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    J Neurosci 32:11082-94. 2012
    ..These findings provide tools for detailed comparison of antibodies across patients and suggest an interaction between antibody binding and channel function...
  24. ncbi N-methyl-D-aspartate receptor subtype mediated bidirectional control of p38 mitogen-activated protein kinase
    Elisa A Waxman
    Department of Pharmacology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    J Biol Chem 280:29322-33. 2005
    ..The ability of NMDAR subtype-specific mechanisms to regulate p38 has implications for NMDAR-mediated synaptic plasticity, gene regulation, and excitotoxicity...
  25. pmc Developmental and cell-selective variations in N-methyl-D-aspartate receptor degradation by calpain
    Yi Na Dong
    Department of Neurology and Pediatrics, University of Pennsylvania and The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104 4318, USA
    J Neurochem 99:206-17. 2006
    ..Our data suggest that the susceptibility of the NMDA receptor to cleavage by calpain varies with neuronal maturity in a manner that may alter its electrophysiological properties...
  26. ncbi Interactions of postsynaptic density-95 and the NMDA receptor 2 subunit control calpain-mediated cleavage of the NMDA receptor
    Yi Na Dong
    Department of Neurology, University of Pennsylvania and The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104 4318, USA
    J Neurosci 24:11035-45. 2004
    ..PSD-95 could regulate the susceptibility of NMDA receptors to calpain-mediated cleavage during synaptic transmission and excitotoxicity...
  27. doi A phase 3, double-blind, placebo-controlled trial of idebenone in friedreich ataxia
    David R Lynch
    Division of Neurology, Children s Hospital of Philadelphia, 502 Abramson Bldg, Philadelphia, PA 19104 4318, USA
    Arch Neurol 67:941-7. 2010
    ..To assess the efficacy of idebenone on neurological function in patients with Friedreich ataxia...
  28. pmc Clinical monitoring in a patient with Friedreich ataxia and osteogenic sarcoma
    Eric C Deutsch
    Department of Pharmacology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    J Child Neurol 27:1159-63. 2012
    ..Results of the regimen and the use of MAP chemotherapy for treatment of neoplasms in individuals with Friedreich ataxia are discussed...
  29. pmc Antioxidant use in Friedreich ataxia
    Lauren Myers
    Department of Neurology, University of Pennsylvania School of Medicine, USA
    J Neurol Sci 267:174-6. 2008
    ..This confirms that non-prescription antioxidant use represents a major confounder to formal trials of existing and novel agents for Friedreich ataxia...
  30. ncbi Performance measures in Friedreich ataxia: potential utility as clinical outcome tools
    David R Lynch
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104 4318, USA
    Mov Disord 20:777-82. 2005
    ..Thus, a composite scale derived from these performance measures may provide the best overall measure for assessing disease progression throughout the illness...
  31. pmc Novel diagnostic paradigms for Friedreich ataxia
    Karlla W Brigatti
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    J Child Neurol 27:1146-51. 2012
    ..Both tests are now clinically available and suggest a new diagnostic paradigm for the disorder. Genetic counseling issues and future diagnostic testing approaches are considered as well...
  32. pmc A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia
    Eric C Deutsch
    Department of Pharmacology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Mol Genet Metab 101:238-45. 2010
    ....
  33. ncbi The E46K mutation in alpha-synuclein increases amyloid fibril formation
    Eric A Greenbaum
    Department of Pharmacology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    J Biol Chem 280:7800-7. 2005
    ..These findings support the notion that aberrant alpha-synuclein polymerization resulting in the formation of pathological inclusions can lead to disease...
  34. pmc A patient with encephalitis associated with NMDA receptor antibodies
    Lauren H Sansing
    Hospital of the University of Pennsylvania, Philadelphia, PA, USA
    Nat Clin Pract Neurol 3:291-6. 2007
    ..There was muscle rigidity, frequent facial grimacing, rhythmic abdominal contractions, kicking motions of the legs, and intermittent dystonic postures of the right arm...
  35. pmc AMPA receptor antibodies in limbic encephalitis alter synaptic receptor location
    Meizan Lai
    Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Ann Neurol 65:424-34. 2009
    ..To report the clinical and immunological features of a novel autoantigen related to limbic encephalitis (LE) and the effect of patients' antibodies on neuronal cultures...
  36. ncbi Calpain and synaptic function
    Hai Yan Wu
    Department of Pediatrics, Children s Hospital of Philadelphia and The University of Pennsylvania, Philadelphia, PA, USA
    Mol Neurobiol 33:215-36. 2006
    ..This article focuses on recent findings on the role of calpain-mediated proteolytic processes in potentially regulating synaptic substrates in physiological and pathophysiological events in the nervous system...
  37. doi Pharmacotherapy for Friedreich ataxia
    Amy Y Tsou
    Department of Neurology, University of Pennsylvania School of Medicine, and Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104 4318, USA
    CNS Drugs 23:213-23. 2009
    ..However, continued development of new therapies will require creation of new, more sensitive measures for neurological dysfunction in FA, and clinically relevant measures of cardiac dysfunction...
  38. doi Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implications
    Lisa S Friedman
    Departments of Neurology and Pediatrics, University of Pennsylvania School of Medicine, and Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Am J Obstet Gynecol 203:224.e1-5. 2010
    ..However, little research exists exploring the medical or psychosocial complications that arise from pregnancy with this disease...
  39. ncbi Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
    Hsien Yang Lee
    Department of Neurology, UCSF, San Francisco, CA 94158, USA
    Cell Rep 1:2-12. 2012
    ....
  40. ncbi Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome
    Carrie E Bearden
    Children s Hospital of Philadelphia, Department of Child Development, USA
    Am J Psychiatry 161:1700-2. 2004
    ..The goal of the present study was to examine COMT genotype as a predictor of prefrontal cognitive function in patients with 22q11.2 deletion syndrome...
  41. pmc N-methyl-D-aspartate receptor mechanosensitivity is governed by C terminus of NR2B subunit
    Pallab Singh
    Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    J Biol Chem 287:4348-59. 2012
    ..These data suggest that the selective mechanosensitivity of NR2B can significantly impact neuronal response to traumatic brain injury and illustrate that the mechanical tone of the neuron can be dynamically regulated by PKC activity...
  42. ncbi N-methyl-D-aspartate receptor-dependent regulation of the glutamate transporter excitatory amino acid carrier 1
    Elisa A Waxman
    Department of Pharmacology, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    J Biol Chem 282:17594-607. 2007
    ..This NMDA receptor-dependent regulation of EAAC1 provides a novel mechanism that may shape excitatory signaling during synaptic plasticity and/or excitotoxicity...
  43. doi Health-related quality of life in children with Friedreich ataxia
    Erin K Paulsen
    Departments of Neurology and Pediatrics, University of Pennsylvania School of Medicine, and The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104 4318, USA
    Pediatr Neurol 42:335-7. 2010
    ..Additional studies are needed to examine the relationship between health-related quality of life and disease markers and to further establish the validity of the PedsQL 4.0 in this population...
  44. doi Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA)
    Sarah J Lagedrost
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, USA
    Am Heart J 161:639-645.e1. 2011
    ..In this 6-month randomized, double-blind, controlled study, we sought to determine whether idebenone improves cardiac measures in FRDA...
  45. pmc Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS
    Donna M McDonald-McGinn
    Division of Human Genetics, The Children s Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA
    J Med Genet 50:80-90. 2013
    ..Mutations outside or on the remaining 22q11.2 allele are also known to modify the phenotype...
  46. ncbi Cardiac dysfunction exacerbated by endocrinopathies in Friedreich ataxia: a case series
    Madeline Snyder
    Department of Neurology, University of South Florida College of Medicine, Parkinson s Disease and Movement, Disorders Center, Tampa, FL 33612, USA
    J Child Neurol 27:1316-9. 2012
    ..We conclude that screening for and awareness of underlying endocrinopathies in Friedreich ataxia may provide novel therapeutic targets for preventing Friedreich ataxia-associated cardiac dysfunction...
  47. ncbi Selective activation induced cleavage of the NR2B subunit by calpain
    Kelly L Simpkins
    Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania 19104 4306, USA
    J Neurosci 23:11322-31. 2003
    ..Such forms could contribute to excitotoxicity and synaptic remodeling...
  48. ncbi Picking up the pieces: the roles of functional remnants of calpain-mediated proteolysis
    David R Lynch
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Neuron 53:317-9. 2007
    ..Together, these papers show the functional importance of fragments of calpain-mediated cleavage...
  49. ncbi Lack of effect of polymorphisms in dopamine metabolism related genes on imaging of TRODAT-1 in striatum of asymptomatic volunteers and patients with Parkinson's disease
    David R Lynch
    Department of Neurology, University of Pennsylvania and The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Mov Disord 18:804-12. 2003
    ..These results demonstrate that these specific genetic variations do not alter the fidelity of (99)Tc-TRODAT-1 as a measure of dopaminergic function in asymptomatic volunteer individuals or patients with PD...
  50. pmc Paraneoplastic anti-N-methyl-D-aspartate receptor encephalitis associated with ovarian teratoma
    Josep Dalmau
    Department of Neurology, Division of Neuro Oncology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Ann Neurol 61:25-36. 2007
    ..To report the autoantigens of a new category of treatment-responsive paraneoplastic encephalitis...
  51. doi Urinary isoprostanes in Friedreich ataxia: lack of correlation with disease features
    Lauren M Myers
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Mov Disord 23:1920-2. 2008
    ..Thus, urinary F(2)-isoprostanes are not a useful biomarker in FA...
  52. ncbi Human immunodeficiency virus (HIV)-induced neurotoxicity: roles for the NMDA receptor subtypes
    Lauren A O'Donnell
    Department of Neurology, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    J Neurosci 26:981-90. 2006
    ..Antagonists of NR2A and NR2B subunits as well as inhibitors of calpain activation offer attractive neuroprotective approaches against HIV in both developing and mature brain...
  53. ncbi Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy
    David R Lynch
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, USA
    Arch Neurol 59:743-7. 2002
    ..Although no proven therapy is yet available, antioxidants are a potential method for therapeutic intervention...
  54. pmc Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis in children and adolescents
    Nicole R Florance
    Division of Neurology, Department of Pediatrics, Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Ann Neurol 66:11-8. 2009
    ..To report the clinical features of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis in patients < or = 18 years old...
  55. doi Clinical measures of dysarthria in Friedreich Ataxia
    Arunjot Singh
    Department of Neurology, University of Pennsylvania School of Medicine and The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104 4318, USA
    Mov Disord 25:108-11. 2010
    ..Thus, four of five measures capture speech dysfunction in FA and may provide feasible, inexpensive, quantitative testing for therapeutic monitoring in FA...
  56. ncbi Cortical synaptic NMDA receptor deficits in α7 nicotinic acetylcholine receptor gene deletion models: Implications for neuropsychiatric diseases
    Hong Lin
    Departments of Pediatrics and Neurology, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Neurobiol Dis 63:129-40. 2014
    ....
  57. doi Longitudinal strain in friedreich ataxia: a potential marker for early left ventricular dysfunction
    Martin St John Sutton
    Department of Cardiology, University of Pennsylvania Medical School, Philadelphia, Pennsylvania The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania
    Echocardiography 31:50-7. 2014
    ..However, the relationship between remodeling and novel measures of cardiac function such as strain, and the time-dependent changes in these measures are poorly defined...
  58. ncbi Practical approaches to neurogenetic disease
    David R Lynch
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, USA
    J Neuroophthalmol 22:297-304. 2002
    ....
  59. ncbi N-methyl-D-aspartate receptor subtypes: multiple roles in excitotoxicity and neurological disease
    Elisa A Waxman
    Department of Pharmacology, University of Pennsylvania School of Medicine, Philadelphia, USA
    Neuroscientist 11:37-49. 2005
    ..This review examines the roles of NMDA receptor subtypes in excitotoxicity and neurological disorders...
  60. ncbi Contrast letter acuity as a measure of visual dysfunction in patients with Friedreich ataxia
    David R Lynch
    Department of Neurology, University of Pennsylvania and The Children s Hospital of Philadelphia, 19104, USA
    J Neuroophthalmol 22:270-4. 2002
    ..We sought to identify a simple, reliable method for assessing clinical and subclinical visual dysfunction in patients with Friedreich ataxia...
  61. pmc Calpain and the glutamatergic synapse
    Shachee Doshi
    Division of Neurology, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania
    Front Biosci (Schol Ed) 1:466-76. 2009
    ..As a result, calpain-mediated cleavage in neurons might not only be involved in pathological events like excitotoxicity, but may also have neuroprotective effects and roles in physiological synaptic transmission...
  62. ncbi Distinct cleavage patterns of normal and pathologic forms of alpha-synuclein by calpain I in vitro
    Amanda J Mishizen-Eberz
    Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    J Neurochem 86:836-47. 2003
    ..Elucidating the role of calpain I in the proteolytic processing of alpha-syn in normal and diseased brains may clarify mechanisms of neurodegenerative alpha-synucleinopathies...
  63. doi Blood cells from Friedreich ataxia patients harbor frataxin deficiency without a loss of mitochondrial function
    Mary A Selak
    Children s Hospital of Philadelphia Research Institute, Children s Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA 19104, USA
    Mitochondrion 11:342-50. 2011
    ....
  64. pmc A gene expression phenotype in lymphocytes from Friedreich ataxia patients
    Giovanni Coppola
    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA
    Ann Neurol 70:790-804. 2011
    ..Peripheral biomarkers related to disease status would be extremely valuable for assessing drug efficacy and could provide new pathophysiological insights...
  65. ncbi Human platelets as a platform to monitor metabolic biomarkers using stable isotopes and LC-MS
    Sankha S Basu
    Department of Pharmacology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA
    Bioanalysis 5:3009-21. 2013
    ..Intracellular metabolites such as CoA thioesters are modulated in a number of clinical settings. Their accurate measurement from surrogate tissues such as platelets may provide additional information to current serum and urinary biomarkers...
  66. ncbi Near infrared muscle spectroscopy in patients with Friedreich's ataxia
    David R Lynch
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Muscle Nerve 25:664-73. 2002
    ..These results suggest that NIRS may be an effective tool for monitoring the biochemical and functional features of Friedreich's ataxia in parallel...
  67. doi Subjective improvement in proprioception in 2 patients with atypical Friedreich ataxia treated with varenicline (Chantix)
    Theresa A Zesiewicz
    Department of Neurology, University of South Florida Ataxia Research Center, Tampa, FL 33612, USA
    J Clin Neuromuscul Dis 10:191-3. 2009
    ....
  68. ncbi Neurogenetics. Introduction
    David R Lynch
    Department of Neurology Pediatrics, Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA 19104, USA
    Neurol Clin 20:xi-xii. 2002