Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Katherine, Helbig"'
Autor:
Marisa I. Mendes, Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano, Shanice Beerepoot, Jozef Hertecant, Sarah vonSpiczak, John H. Livingston, Lisa Emrick, Jamie Fraser, Laura Russell, Genevieve Bernard, Stefania Magri, Daniela Di Bella, Franco Taroni, Mary K. Koenig, Isabella Moroni, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Jullie Rhee, Bryce A. Mendelsohn, Ingo Helbig, Katherine Helbig, Hiltrud Muhle, Omar Ismayl, Adeline L. Vanderver, Gajja S. Salomons, Marjo S. van derKnaap, Nicole I. Wolf
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 83-93 (2020)
Abstract Objective Biallelic variants in RARS1, encoding the cytoplasmic tRNA synthetase for arginine (ArgRS), cause a hypomyelinating leukodystrophy. This study aimed to investigate clinical, neuroradiological and genetic features of patients with R
Externí odkaz:
https://doaj.org/article/0451d47dda844ada9b1700050648a958
Autor:
Ilona, Krey, Konrad, Platzer, Alina, Esterhuizen, Samuel F, Berkovic, Ingo, Helbig, Michael S, Hildebrand, Holger, Lerche, Daniel, Lowenstein, Rikke S, Møller, Annapurna, Poduri, Lynette, Sadleir, Sanjay M, Sisodiya, Sarah, Weckhuysen, Jo M, Wilmshurst, Yvonne, Weber, Johannes R, Lemke, Samuel F., Berkovic, J. Helen, Cross, Heathea C., Mefford, Piero, Perucca, Nigel C.K., Tan, Hande, Caglayan, Katherine, Helbig, Gagandeep, Singh
Publikováno v:
Epileptic disorders
Epilepsy genetics is a rapidly developing field, in which novel disease-associated genes, novel mechanisms associated with epilepsy, and precision medicine approaches are continuously being identified. In the past decade, advances in genomic knowledg
Autor:
Julie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, Ganna Balagura, Eryn Fitch, Katherine Helbig, Jing Gan, Shiva Ganesan, Michael C Kaufman, Colin A Ellis, David Lewis-Smith, Peter Galer, Kristin Cunningham, Margaret O’Brien, Mahgenn Cosico, Kate Baker, Alejandra Darling, Fernanda Veiga de Goes, Christelle M El Achkar, Jan Henje Doering, Francesca Furia, Ángeles García-Cazorla, Elena Gardella, Lisa Geertjens, Courtney Klein, Anna Kolesnik-Taylor, Hanna Lammertse, Jeehun Lee, Alexandra Mackie, Mala Misra-Isrie, Heather Olson, Emma Sexton, Beth Sheidley, Lacey Smith, Luiza Sotero, Hannah Stamberger, Steffen Syrbe, Kim Marie Thalwitzer, Annemiek van Berkel, Mieke van Haelst, Christopher Yuskaitis, Sarah Weckhuysen, Ben Prosser, Charlene Son Rigby, Scott Demarest, Samuel Pierce, Yuehua Zhang, Rikke S Møller, Hilgo Bruining, Annapurna Poduri, Federico Zara, Matthijs Verhage, Pasquale Striano, Ingo Helbig
Publikováno v:
Brain, 145(5), 1668-1683. Oxford University Press
Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, El Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, ' Assessing the landscape of STXBP1-related disorders in 534 individuals ', Brain : a journal of neurology, vol. 145, no. 5, pp. 1668-1683 . https://doi.org/10.1093/brain/awab327
Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, el Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, ' Assessing the landscape of STXBP1-related disorders in 534 individuals ', Brain, vol. 145, no. 5, pp. 1668-1683 . https://doi.org/10.1093/brain/awab327
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Brain : a journal of neurology, 145(5), 1668-1683. Oxford University Press
Brain
Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, El Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, ' Assessing the landscape of STXBP1-related disorders in 534 individuals ', Brain : a journal of neurology, vol. 145, no. 5, pp. 1668-1683 . https://doi.org/10.1093/brain/awab327
Xian, J, Parthasarathy, S, Ruggiero, S M, Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M, Cosico, M, Baker, K, Darling, A, Veiga de Goes, F, el Achkar, C M, Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra-Isrie, M, Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M, van Berkel, A, van Haelst, M, Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M, Striano, P & Helbig, I 2022, ' Assessing the landscape of STXBP1-related disorders in 534 individuals ', Brain, vol. 145, no. 5, pp. 1668-1683 . https://doi.org/10.1093/brain/awab327
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Brain : a journal of neurology, 145(5), 1668-1683. Oxford University Press
Brain
Disease-causing variants in STXBP1 are among the most common genetic causes of neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related disorders is wide and clear correlations between variant type and clinical features have n
Autor:
Michael C. Kaufman, Julie Xian, Peter D. Galer, Shridhar Parthasarathy, Alexander K. Gonzalez, Katherine Helbig, Sarah McKeown, Marisa S. Prelack, Mark P. Fitzgerald, Sansanee Craig, Salvatore C. Rametta, Sara E. Fridinger, Uzma Sharif, Susan E. Melamed, Marissa DiGiovine, Lawrence Fried, Marissa P. Malcolm, Sudha Kilaru Kessler, Madeline Chadehumbe, Christina L. Szperka, John Chuo, Laurel Caffee, Donna J. Stephenson, Brenda L. Banwell, Ethan Goldberg, Nicholas S. Abend, Ingo Helbig
IntroductionDetermining the long-term impact of telemedicine in care across the diagnostic and age spectrum of child neurology during the COVID-19 pandemic and with the re-opening of outpatient clinics.MethodsAn observational cohort study of 34,837 i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ebc2f1f3f00bd7be68fc76a271aff95
https://doi.org/10.1101/2021.12.15.21267868
https://doi.org/10.1101/2021.12.15.21267868
Autor:
Holly Snyder, Lisa Salz, Julie Cohen, Inna Hughes, Kristen Park, Katherine Helbig, Monica Koehn, Anup Patel, Annapurna Poduri, Sarah Schmidt
Publikováno v:
Genetics in Medicine. 24:S351-S352
Autor:
Afawi Z, Kl, Oliver, Kivity S, Mazarib A, Blatt I, My, Neufeld, Katherine Helbig, Goldberg-Stern H, Aj, Misk, Straussberg R, Walid S, Mahajnah M, Lerman-Sagie T, Ben-Zeev B, Kahana E, Masalha R, Kramer U, Ekstein D, Shorer Z, Rh, Wallace
Publikováno v:
Europe PubMed Central
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::84cee6ad764214a1613ba3c7a7b2635e
http://europepmc.org/abstract/med/26802095
http://europepmc.org/abstract/med/26802095