Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Jessica Cohen-Pfeffer"'
Autor:
Nicola Specchio, Paul Gissen, Emily de Los Reyes, Andrew Olaye, Charlotte Camp, Tristan Curteis, Annabel Griffiths, Thomas Butt, Jessica Cohen-Pfeffer, Peter Slasor, Zlatko Sisic, Mohit Jain, Angela Schulz
Publikováno v:
PLoS ONE, Vol 19, Iss 5, p e0302382 (2024)
BackgroundThe CLN2 Clinical Rating Scale evaluates disease progression in CLN2 disease, an ultra-rare, neurodegenerative disorder with late infantile onset. To validate the Clinical Rating Scale, a comparison with the Pediatric Quality of Life Invent
Externí odkaz:
https://doaj.org/article/ffa584edb7444e39bb9066a50015e6e3
Autor:
Marina Trivisano, Lenora Lehwald, Paul Gissen, Jessica Cohen-Pfeffer, Nicola Specchio, Angela Schulz, Christoph Schwering, Laura Lee, Raymond Y. Wang, Renée Shediac, Eva Wibbeler, Norberto Guelbert, Emily de los Reyes, Fernanda Leal-Pardinas, Miriam Nickel, Gianni Amato
Publikováno v:
Journal of Child Neurology
Journal of child neurology, vol 36, iss 6
Journal of child neurology, vol 36, iss 6
Background: The classic phenotype of CLN2 disease (neuronal ceroid lipofuscinosis type 2) typically manifests between ages 2 and 4 years with a predictable clinical course marked by epilepsy, language developmental delay, and rapid psychomotor declin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6c1b91f1d50fad5d5f92cf2d45837a5
https://doi.org/10.1177/0883073820977997
https://doi.org/10.1177/0883073820977997
Autor:
Fernanda Leal‐Pardinas, Rebecca Truty, Dianalee A. McKnight, Britt Johnson, Ana Morales, Sara L. Bristow, Tiffany Yar Pang, Jessica Cohen‐Pfeffer, Emanuela Izzo, Raman Sankar, Sookyong Koh, Elaine C. Wirrell, John J. Millichap, Swaroop Aradhya
Publikováno v:
Epilepsia. 63(7)
This study assessed the effectiveness of genetic testing in shortening the time to diagnosis of late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease. Individuals who received epilepsy gene panel testing through Behind the Seizure
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e697aaaa1b4c36c6c6d2c3a3b294b15
https://pubmed.ncbi.nlm.nih.gov/35474188
https://pubmed.ncbi.nlm.nih.gov/35474188
Autor:
Jessica Cohen-Pfeffer, John Millichap, Ana Morales, Fernanda Leal-Pardinas, Swaroop Aradhya, Elaine C. Wirrell, Britt Johnson, Sara L. Bristow, Emanuela Izzo, Sookyong Koh, Raman Sankar, Rebecca Truty, Tiffany Pang, Dianalee McKnight
Publikováno v:
Molecular Genetics and Metabolism. 132:S204
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::03c0c0dde2da733e0f836b59bd8ebaed
https://doi.org/10.1016/s1096-7192(21)00401-7
https://doi.org/10.1016/s1096-7192(21)00401-7
Autor:
Tiffany Pang, Fernanda Leal-Pardinas, Rebecca Truty, Dianalee A. McKnight, Britt Johnson, Ana Morales, Sara L. Bristow, Emanuela Izzo, Jessica Cohen-Pfeffer, Raman Sankar, Sookyong Koh, Elaine C. Wirrell, John J. Millichap, Swaroop Aradhya
Publikováno v:
Molecular Genetics and Metabolism. 132:S82
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f46aef627011a9351d0d80f535d17c74
https://doi.org/10.1016/j.ymgme.2020.12.194
https://doi.org/10.1016/j.ymgme.2020.12.194
Autor:
Jessica Cohen-Pfeffer, Amy Yang, Lenora Lehwald, Dorna Chu, Jacqueline Madden, Sam Lu, James W. Wheless, Raymond Y. Wang, Susan See, Karen Butler, Natalie Cormier, Joffre Olaya, Elizabeth Berry-Kravis, Erika F. Augustine, Scott Demarest, Emily de los Reyes, Amy Vierhile, Fernanda Leal-Pardinas
Publikováno v:
Molecular Genetics and Metabolism. 129:S158
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::598f64a88f5300946b6e95d7a2a38a18
https://doi.org/10.1016/j.ymgme.2019.11.421
https://doi.org/10.1016/j.ymgme.2019.11.421
Autor:
Manisha Balwani, Jessica Cohen-Pfeffer, Jessica Overbey, Amy Yang, Khyati Desai, Louise Bier, Robert J. Desnick
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 19(6)
The overall published experience with pediatric type 1 Gaucher disease (GD1) has been based on ascertainment through clinical presentation of the disease. We describe the longitudinal follow-up in a presymptomatic pediatric cohort.The cohort includes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc7267721af0cff920e8917846cf1f7d
https://pubmed.ncbi.nlm.nih.gov/27735925
https://pubmed.ncbi.nlm.nih.gov/27735925
Publikováno v:
Journal of Plastic, Reconstructive & Aesthetic Surgery. 65:e95-e98
Deletions of the long arm of chromosome 4 (4q) are rare, with an estimated incidence of roughly 1 in 10,000 live births. Patients present with a constellation of findings, including cardiac malformations, micrognathia in the setting of Pierre Robin s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ee2e18124f7ff054f48f39167025ab0
https://doi.org/10.1016/j.bjps.2011.11.031
https://doi.org/10.1016/j.bjps.2011.11.031
Autor:
Jessica Cohen-Pfeffer, Helena Jahnová, Moeenaldeen Al-Sayed, Angela Schulz, Winnie Xin, Emanuela Izzo, David A. Pearce, Inés Noher de Halac, Zoltan Lukacs, Roberto Giugliani, Lenka Dvořáková, Sara E. Mole, Nicole Miller, Jonathan D. Cooper, Derek Burke, Nicola Specchio, Michael Fietz
Publikováno v:
Molecular Genetics and Metabolism. 117:S61
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ea313b8e06766db605cd1266c582b8d
https://doi.org/10.1016/j.ymgme.2015.12.301
https://doi.org/10.1016/j.ymgme.2015.12.301
Autor:
Sherlykutty Sunny, Chunli Yu, Melissa P. Wasserstein, Michele Caggana, Jessica Cohen-Pfeffer, Peter J. McGuire, Mark A. Morrissey, Bobbie R. Salveson, James D. Weisfeld-Adams, Brian Kirmse, George A. Diaz
Introduction Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B 12 metabolism caused by mutations in MMACHC . CblC typically presents in the neonatal period with neurological deteriorati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::058908f3e02621cd3504b169edfb9cd2
https://europepmc.org/articles/PMC2914534/
https://europepmc.org/articles/PMC2914534/
