Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Kate Eichinger"'
Autor:
William B. Martens, Kate Eichinger, Elizabeth Luebbe, Michael P. McDermott, Chad Heatwole, Richard T. Moxley, Nicholas E. Johnson, Jeanne Dekdebrun, Charles A. Thornton, James E. Hilbert, Nuran Dilek
Publikováno v:
Muscle & Nerve. 58:49-55
Introduction When preparing for clinical trials in myotonic dystrophy type-1 (DM1), it is important that researchers develop and identify patient-reported outcome measures with good measurement properties. Methods Fifty-two DM1 patients enrolled in 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::078a7fbfd1072c116b174cdf499aa65a
https://doi.org/10.1002/mus.26066
https://doi.org/10.1002/mus.26066
Autor:
Manoj P. Menezes, Mary M. Reilly, Michael E. Shy, Matilde Laura, David N. Herrmann, R Shy, Francesco Muntoni, Emanuela Pagliano, Isabella Moroni, Paula Bray, T Estilow, T Bhandari, Kate Eichinger, Richard S. Finkel, Joshua Burns, Kayla M.D. Cornett, Mark Halaki, Davide Pareyson, Sabrina W. Yum
Publikováno v:
Annals of Neurology. 82:353-359
Objective To determine the rate of disease progression in a longitudinal natural history study of children with Charcot-Marie-Tooth (CMT) disease. Methods Two hundred six (103 female) participants aged 3 to 20 years enrolled in the Inherited Neuropat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f85e5467eca26604785f7fe98bbc2dbb
https://doi.org/10.1002/ana.25009
https://doi.org/10.1002/ana.25009
Autor:
Davide Pareyson, Joshua Burns, Emanuela Pagliano, Isabella Moroni, Michael E. Shy, Maria Foscan, Kathryn M. Refshauge, Oranee Sanmaneechai, Hugo Sampaio, Rachel A. Kennedy, Gyula Acsadi, Karen Herbert, Sabrina W. Yum, David N. Herrmann, Paula Bray, Kristy Rose, Eppie M. Yiu, Michelle A. Farrar, Manoj P. Menezes, T Estilow, Kate Eichinger, Monique M. Ryan, R Shy, Melissa R Mandarakas
Publikováno v:
Brain : a journal of neurology. 142(4)
Many genetic subtypes of Charcot-Marie-Tooth disease (CMT) show signs of symptomatic disease during the earliest years of life. This might be the ideal time to intervene before progression of clinical sequelae due to demyelination and axonal loss. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa92003ba05b6671414d0d956b3a3561
https://pubmed.ncbi.nlm.nih.gov/30476010
https://pubmed.ncbi.nlm.nih.gov/30476010
Autor:
Kate Eichinger, Mark Halaki, Joshua Burns, Davide Pareyson, Richard S. Finkel, T Estilow, Paula Bray, T Bhandari, Sabrina W. Yum, Kayla M.D. Cornett, Emanuela Pagliano, Gregory S. Troutman, Allan M. Glanzman, Michael E. Shy, David N. Herrmann, Isabella Moroni, Mary M. Reilly, Manoj P. Menezes, Francesco Muntoni, Matilde Laura, Ann T. Harrington, R Shy
Publikováno v:
Musclenerve. 60(3)
INTRODUCTION Balance impairment contributes to gait dysfunction, falls, and reduced quality of life in adults with Charcot-Marie-Tooth disease (CMT) but has been minimally examined in pediatric CMT. METHODS The CMT Pediatric Scale (CMTPedS) was admin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67c1fc7d9c4a719c8338b235677eeaaf
https://pubmed.ncbi.nlm.nih.gov/31228266
https://pubmed.ncbi.nlm.nih.gov/31228266
Autor:
Sabrina W. Yum, Michelle A. Farrar, Gyula Acsadi, Karen Herbert, T Estilow, Michael E. Shy, Manoj P. Menezes, Paula Bray, Joshua Burns, Kristy Rose, Emanuela Pagliano, Melissa R Mandarakas, Kate Eichinger, Oranee Sanmaneechai, Rachel A. Kennedy, R Shy, Eppie M. Yiu, Hugo Sampaio, Kathryn M. Refshauge, David N. Herrmann, Isabella Moroni, Monique M. Ryan, Maria Foscan, Davide Pareyson
Publikováno v:
Brain : a journal of neurology. 141(12)
Many genetic subtypes of Charcot-Marie-Tooth disease (CMT) show signs of symptomatic disease during the earliest years of life. This might be the ideal time to intervene before progression of clinical sequelae due to demyelination and axonal loss. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8934fa5e3bfe960e5192883a6d93b109
https://pubmed.ncbi.nlm.nih.gov/30649217
https://pubmed.ncbi.nlm.nih.gov/30649217
Autor:
Chad, Heatwole, Nicholas, Johnson, Jeanne, Dekdebrun, Nuran, Dilek, Kate, Eichinger, James, Hilbert, Elizabeth, Luebbe, William, Martens, Michael P, Mcdermott, Charles, Thornton, Richard, Moxley
Publikováno v:
Musclenerve.
When preparing for clinical trials in myotonic dystrophy type-1 (DM1), it is important that researchers develop and identify patient-reported outcome measures with good measurement properties.Fifty-two DM1 patients enrolled in 2 clinical studies comp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::27357b6eddc8f92dc83c12291aa8662a
https://pubmed.ncbi.nlm.nih.gov/29328504
https://pubmed.ncbi.nlm.nih.gov/29328504
Autor:
Mary M. Reilly, Michael E. Shy, Francesco Muntoni, Matilde Laura, Davide Pareyson, T Estilow, Joshua Burns, R Shy, Kate Eichinger, Richard S. Finkel, Manoj P. Menezes, David N. Herrmann, Isabella Moroni, Emanuela Pagliano
Publikováno v:
Journal of the Peripheral Nervous System. 18:177-180
Long-term studies of Charcot-Marie-Tooth (CMT) disease across the entire lifespan require stable endpoints that measure the same underlying construct (e.g., disability). The aim of this study was to assess the relationship between the CMT Pediatric S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::772f4e64e1bc1412e1552345f19694f5
https://doi.org/10.1111/jns5.12024
https://doi.org/10.1111/jns5.12024
Autor:
Kate Eichinger, R Shy, Mary M. Reilly, Richard S. Finkel, Matilde Laura, Francesco Muntoni, Joshua Burns, T Estilow, Davide Pareyson, Robert A. Ouvrier, Michael E. Shy, Gyula Acsadi
Background Charcot–Marie–Tooth disease is the most common inherited nerve disorder and typically presents with pes cavus foot deformity and ankle equinus during childhood. Level in the variation of symmetry of musculoskeletal lower limb involveme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1eb2c138f6813023cb9e27458ba8c05
https://europepmc.org/articles/PMC3389135/
https://europepmc.org/articles/PMC3389135/
