Search

Your search keyword '"Eichinger, Kate"' showing total 15 results
Start Over Author "Eichinger, Kate"
15 results on '"Eichinger, Kate"'

1. Natural history of Charcot‐Marie‐Tooth disease during childhood

Author

Cornett, Kayla M.D., Menezes, Manoj P., Shy, Rosemary R., Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Estilow, Timothy, Yum, Sabrina W., Bhandari, Trupti, Muntoni, Francesco, Laura, Matilde, Reilly, Mary M., Finkel, Richard S., Eichinger, Kate J., Herrmann, David N., Bray, Paula, Halaki, Mark, Shy, Michael E., Burns, Joshua, Cornett, Kayla MD, Menezes, Manoj P, Ouvrier, Robert, Acsadi, Gyula, Shy, Rosemary R, Calabrese, Daniela, Foscan, Maria, Sala, Roberta, Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Estilow, Timothy, Yum, Sabrina W, Bhandari, Trupti, Muntoni, Francesco, Laura, Matilde, Reilly, Mary M, Finkel, Richard S, Eichinger, Kate J, Herrmann, David N, Bray, Paula, Rose, Kristy, Halaki, Mark, Pallant, Julie, Lek, Monkol, Shy, Michael E, and Burns, Joshua

Published
2017
Full Text
View/download PDF

2. Assessing non-Mendelian inheritance in inherited axonopathies

Author

Bis-Brewer, Dana M., primary, Gan-Or, Ziv, additional, Sleiman, Patrick, additional, Rodriguez, Aixa, additional, Bacha, Alexa, additional, Kosikowski, Ashley, additional, Wood, Beth, additional, McCray, Brett, additional, Blume, Brianna, additional, Siskind, Carly, additional, Sumner, Charlotte, additional, Calabrese, Daniela, additional, Walk, David, additional, Vujovic, Dragan, additional, Park, Eun, additional, Muntoni, Francesco, additional, Donlevy, Gabrielle, additional, Acsadi, Gyula, additional, Day, John, additional, Burns, Joshua, additional, Li, Jun, additional, Krajewski, Karen, additional, Eichinger, Kate, additional, Cornett, Kayla, additional, Mullen, Krista, additional, Perez, Laura, additional, Gutmann, Laurie, additional, Barrett, Maria, additional, Saporta, Mario, additional, Skorupinska, Mariola, additional, Grant, Natalie, additional, Bray, Paula, additional, Seyedsadjadi, Reza, additional, Zuccarino, Riccardo, additional, Finkel, Richard, additional, Lewis, Richard, additional, Yum, Sabrina, additional, Hilbert, Sarah, additional, Thomas, Simone, additional, Behrens-Spraggins, Steffen, additional, Jones, Tara, additional, Grider, Tiffany, additional, Estilow, Tim, additional, Fridman, Vera, additional, Reilly, Mary M., additional, Shy, Michael E., additional, Bacon, Chelsea J., additional, Feely, Shawna M.E., additional, Rossor, Alexander M., additional, Herrmann, David N., additional, Hakonarson, Hakon, additional, Fazal, Sarah, additional, Courel, Steve, additional, Cintra, Vivian, additional, Tao, Feifei, additional, Estiar, Mehrdad A., additional, Tarnopolsky, Mark, additional, Boycott, Kym M., additional, Yoon, Grace, additional, Suchowersky, Oksana, additional, Dupré, Nicolas, additional, Cheng, Andrew, additional, Lloyd, Thomas E., additional, Rouleau, Guy, additional, Schüle, Rebecca, additional, and Züchner, Stephan, additional

Published
2020
Full Text
View/download PDF

3. Assessing non-Mendelian inheritance in inherited axonopathies

Author

Bis-Brewer, Dana M, Gan-Or, Ziv, Tarnopolsky, Mark, Boycott, Kym M, Yoon, Grace, Suchowersky, Oksana, Dupré, Nicolas, Cheng, Andrew, Lloyd, Thomas E, Rouleau, Guy, Schüle, Rebecca, Züchner, Stephan, Sleiman, Patrick, Rodriguez, Aixa, Bacha, Alexa, Kosikowski, Ashley, Wood, Beth, McCray, Brett, Blume, Brianna, Siskind, Carly, Sumner, Charlotte, Calabrese, Daniela, Walk, David, Consortium, Inherited Neuropathy, Vujovic, Dragan, Park, Eun, Muntoni, Francesco, Donlevy, Gabrielle, Acsadi, Gyula, Day, John, Burns, Joshua, Li, Jun, Krajewski, Karen, Eichinger, Kate, Hakonarson, Hakon, Cornett, Kayla, Mullen, Krista, Perez, Laura, Gutmann, Laurie, Barrett, Maria, Saporta, Mario, Skorupinska, Mariola, Grant, Natalie, Bray, Paula, Seyedsadjadi, Reza, Fazal, Sarah, Zuccarino, Riccardo, Finkel, Richard, Lewis, Richard, Yum, Sabrina, Hilbert, Sarah, Thomas, Simone, Behrens-Spraggins, Steffen, Jones, Tara, Grider, Tiffany, Estilow, Tim, Courel, Steve, Fridman, Vera, Reilly, Mary M, Shy, Michael E, Bacon, Chelsea J, Feely, Shawna M E, Rossor, Alexander M, Herrmann, David N, Cintra, Vivian, Tao, Feifei, and Estiar, Mehrdad A

Subjects
0301 basic medicine, Non-Mendelian inheritance, medicine.medical_specialty, Hereditary spastic paraplegia, 030105 genetics & heredity, Biology, Charcot–Marie–Tooth disease, Article, 03 medical and health sciences, symbols.namesake, Hereditary Spastic Paraplegia, Charcot-Marie-Tooth Disease, genetics [Spastic Paraplegia, Hereditary], Exome Sequencing, medicine, Humans, oligogenic inheritance, ddc:610, Allele, hereditary spastic paraplegia, Exome, Genetics (clinical), Alleles, inherited axonopathy, diagnosis [Charcot-Marie-Tooth Disease], Genetics, Spastic Paraplegia, Hereditary, Genetic heterogeneity, Oligogenic Inheritance, medicine.disease, diagnosis [Spastic Paraplegia, Hereditary], 030104 developmental biology, Mutation, Mendelian inheritance, symbols, Medical genetics, genetics [Charcot-Marie-Tooth Disease], mutational burden
Abstract

Purpose: Inherited axonopathies (IA) are rare, clinically and genetically heterogeneous diseases that lead to length-dependent degeneration of the long axons in central (hereditary spastic paraplegia (HSP)) and peripheral (Charcot-Marie-Tooth type 2 (CMT2)) nervous systems. Mendelian high-penetrance alleles in over one hundred different genes have been shown to cause IA; yet, about 50% of IA cases do not receive a genetic diagnosis. A more comprehensive spectrum of causative genes and alleles is warranted, including causative and risk alleles, as well as oligogenic multilocus inheritance. Methods: Through international collaboration, IA exome studies are beginning to be sufficiently powered to perform a pilot rare variant burden analysis. After extensive quality control, our cohort contained 343 CMT cases, 515 HSP cases, and 935 non-neurological controls. We assessed the cumulative mutational burden across disease genes, explored the evidence for multilocus inheritance, and performed an exome-wide rare variant burden analysis. Results: We replicated the previously described mutational burden in a much larger cohort of CMT cases, and observed the same effect in HSP cases. We identified a preliminary risk allele for CMT in the EXOC4 gene (p-value= 6.9×10−6, OR=2.1) and explored the possibility of multi-locus inheritance in IA. Conclusions: Our results support the continuing emergence of complex inheritance mechanisms in historically Mendelian disorders.

Published
2020

4. Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS)

Author

Eichinger Kate, Ramchandren Sindhu, Pagliano Emanuela, Moroni Isabella, Pareyson Davide, Reilly Mary, Muntoni Francesco, Acsadi Gyula, Glanzman Allan, Patzko Agnes, Swingle Polly, Laura Matilde, Hiscock Andy, Estilow Tim, Finkel Richard, Burns Joshua, Ryan Monique, Ouvrier Robert, Shy Michael, and Shy Rosemary

Subjects
Diseases of the musculoskeletal system, RC925-935
Published
2011
Full Text
View/download PDF

7. Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

Author

Mandarakas, Melissa R, primary, Menezes, Manoj P, additional, Rose, Kristy J, additional, Shy, Rosemary, additional, Eichinger, Kate, additional, Foscan, Maria, additional, Estilow, Timothy, additional, Kennedy, Rachel, additional, Herbert, Karen, additional, Bray, Paula, additional, Refshauge, Kathryn, additional, Ryan, Monique M, additional, Yiu, Eppie M, additional, Farrar, Michelle, additional, Sampaio, Hugo, additional, Moroni, Isabella, additional, Pagliano, Emanuela, additional, Pareyson, Davide, additional, Yum, Sabrina W, additional, Herrmann, David N, additional, Acsadi, Gyula, additional, Shy, Michael E, additional, Burns, Joshua, additional, and Sanmaneechai, Oranee, additional

Published
2019
Full Text
View/download PDF

8. Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

Author

Mandarakas, Melissa R, primary, Menezes, Manoj P, additional, Rose, Kristy J, additional, Shy, Rosemary, additional, Eichinger, Kate, additional, Foscan, Maria, additional, Estilow, Timothy, additional, Kennedy, Rachel, additional, Herbert, Karen, additional, Bray, Paula, additional, Refshauge, Kathryn, additional, Ryan, Monique M, additional, Yiu, Eppie M, additional, Farrar, Michelle, additional, Sampaio, Hugo, additional, Moroni, Isabella, additional, Pagliano, Emanuela, additional, Pareyson, Davide, additional, Yum, Sabrina W, additional, Herrmann, David N, additional, Acsadi, Gyula, additional, Shy, Michael E, additional, Burns, Joshua, additional, and Sanmaneechai, Oranee, additional

Published
2018
Full Text
View/download PDF

9. Balance impairment in pediatric charcot-marie-tooth disease.

Author

Estilow, Timothy, Glanzman, Allan M., Burns, Joshua, Harrington, Ann, Cornett, Kayla, Menezes, Manoj P., Shy, Rosemary, Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Bhandari, Trupti, Muntoni, Francesco, Laurá, Matilde, Reilly, Mary M., Finkel, Richard S., Eichinger, Kate J., Herrmann, David N., Troutman, Gregory, Bray, Paula, and Halaki, Mark

Subjects
AGE distribution, CHARCOT-Marie-Tooth disease, COMPARATIVE studies, GAIT disorders, GAIT in humans, RESEARCH methodology, MEDICAL cooperation, MOVEMENT disorders, MUSCLE strength, NEUROLOGICAL disorders, PHYSICAL therapy, QUALITY of life, RESEARCH, RESEARCH funding, EVALUATION research
Abstract

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 administered to 520 children with CMT. Associations between balance function (Bruininks-Oseretsky Test of Motor Proficiency [BOT-2]) and sensorimotor and gait impairments were investigated.Results: Daily trips/falls were reported by 42.3% of participants. Balance (BOT-2) varied by CMT subtype, was impaired in 42% of 4-year-olds, and declined with age (P < 0.001). Vibration (P < 0.001), pinprick (P < 0.004), ankle dorsiflexion strength (P < 0.001), and foot alignment (P < 0.004) were associated with BOT-2 balance (adjusted R2 = 0.28). The visual dependence of balance increased with age.Discussion: Balance impairment occurs from a young age in children with CMT. Balance intervention studies are required in pediatric CMT and should consider the degree of sensorimotor impairment, foot malalignment, and visual dependence. Muscle Nerve, 2019. [ABSTRACT FROM AUTHOR]

Published
2019
Full Text
View/download PDF

11. Myotonic dystrophy patient preferences in patient-reported outcome measures

Author

Heatwole, Chad, primary, Johnson, Nicholas, additional, Dekdebrun, Jeanne, additional, Dilek, Nuran, additional, Eichinger, Kate, additional, Hilbert, James, additional, Luebbe, Elizabeth, additional, Martens, William, additional, Mcdermott, Michael P., additional, Thornton, Charles, additional, and Moxley, Richard, additional

Published
2018
Full Text
View/download PDF

12. Electrical Impedance Myography in Facioscapulohumeral Muscular Dystrophy

Author

Statland, Jeffrey M., Heatwole, Chad, Eichinger, Kate, Dilek, Nuran, Martens, William B, and Tawil, Rabi

Subjects
Adult, Male, Cross-Sectional Studies, Electric Impedance, Myography, Humans, Female, Prospective Studies, Middle Aged, Muscle, Skeletal, Article, Muscular Dystrophy, Facioscapulohumeral, Aged
Abstract

In this study we determined the reliability and validity of electrical impedance myography (EIM) in facioscapulohumeral muscular dystrophy (FSHD).We performed a prospective study of EIM on 16 bilateral limb and trunk muscles in 35 genetically defined and clinically affected FSHD patients (reliability testing on 18 patients). Summary scores based on body region were derived. Reactance and phase (50 and 100 kHz) were compared with measures of strength, FSHD disease severity, and functional outcomes.Participants were mostly men, mean age 53.0 years, and included a full range of severity. Limb and trunk muscles showed good to excellent reliability [intraclass correlation coefficients (ICC) 0.72-0.99]. Summary scores for the arm, leg, and trunk showed excellent reliability (ICC 0.89-0.98). Reactance was the most sensitive EIM parameter to a broad range of FSHD disease metrics.EIM is a reliable measure of muscle composition in FSHD that offers the possibility to serially evaluate affected muscles. Muscle Nerve 54: 696-701, 2016.

Published
2016

13. Development, reliability and validity of the Charcot‐Marie‐Tooth disease Pediatric Scale (CMTPedS)

Author

Burns, Joshua, primary, Finkel, Richard, additional, Estilow, Tim, additional, Hiscock, Andy, additional, Laura, Matilde, additional, Swingle, Polly, additional, Patzko, Agnes, additional, Glanzman, Allan, additional, Acsadi, Gyula, additional, Muntoni, Francesco, additional, Reilly, Mary, additional, Pareyson, Davide, additional, Moroni, Isabella, additional, Pagliano, Emanuela, additional, Ramchandren, Sindhu, additional, Eichinger, Kate, additional, Ryan, Monique, additional, Ouvrier, Robert, additional, Shy, Michael, additional, and Shy, Rosemary, additional

Published
2011
Full Text
View/download PDF

14. Development and validation of the CMT infant scale

Author

Mandarakas, Melissa, Menezes, Manoj, Rose, Kristy, Shy, Rosemary, Eichinger, Kate, Foscan, Maria, Estilow, Timothy, Kennedy, Rachel, Herbert, Karen, Bray, Paula, Refshauge, Kathryn, Ryan, Monique, Yiu, Eppie, Farrar, Michelle, Sampaio, Hugo, isabella moroni, Pagliano, Emanuela, Pareyson, Davide, Yum, Sabrina, Herrmann, David, Acsadi, Gyula, Finkel, Richard, Shy, Michael, Burns, Joshua, and Sanmaneechai, Oranee

15. Optimizing the clinical trial responsiveness of the CMT pediatric scale

Author

Cornett, Kayla, Menezes, Manoj, Shy, Rosemary, isabella moroni, Pagliano, Emanuela, Pareyson, Davide, Estilow, Timothy, Yum, Sabrina, Bhandari, Trupti, Muntoni, Francesco, Laura, Matilde, Reilly, Mary, Finkel, Richard, Eichinger, Kate, Herrmann, David, Shy, Michael, and Burns, Joshua

Catalog

Books, media, physical & digital resources
See catalog results