Zobrazeno 1 - 5 of 5 pro vyhledávání: '"Timothy James Maarup"'
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TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Autor: Flavia M. Facio, Bryn D. Webb, Alan Ma, Christopher Troedson, Irini Manoli, Carmen C. Brewer, Christopher K. Zalewski, Elizabeth C. Engle, Carol Van Ryzin, Audrey Thurm, Paul R. Lee, Timothy James Maarup, Malin Kvarnung, Edmond J. FitzGibbon, Hans Ulrik Møller, Camilo Toro, Scott M. Paul, Glad Ragnhild, Jayne Antony, Omar A. Abdul-Rahman, David G. Hunter, Janice S. Lee, Katrine V. Wirgenes, Dorte Ancher Larsen, Mary C. Whitman, Caroline D. Robson, Wai-Man Chan, Kelly A. King, Tanya J. Lehky, Francis S. Collins, Brenda J. Barry, Sarah MacKinnon, Angela Delaney, Emma Tham, Konstantinia Almpani, Ethylin Wang Jabs
Publikováno v: Whitman, M C, Barry, B J, Robson, C D, Facio, F M, Van Ryzin, C, Chan, W M, Lehky, T J, Thurm, A, Zalewski, C, King, K A, Brewer, C, Almpani, K, Lee, J S, Delaney, A, FitzGibbon, E J, Lee, P R, Toro, C, Paul, S M, Abdul-Rahman, O A, Webb, B D, Jabs, E W, Moller, H U, Larsen, D A, Antony, J H, Troedson, C, Ma, A, Ragnhild, G, Wirgenes, K V, Tham, E, Kvarnung, M, Maarup, T J, MacKinnon, S, Hunter, D G, Collins, F S, Manoli, I & Engle, E C 2021, ' TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy ', Human Genetics, vol. 140, no. 12, pp. 1709-1731 . https://doi.org/10.1007/s00439-021-02379-9
Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause brain malformations. Missense mutations in
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99d00d64dba95ca47cdea707cc3837fb
https://doi.org/10.1007/s00439-021-02379-9
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2
Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations
Autor: Stéphane Bézieau, Jillian M. Cameron, Samuel F. Berkovic, Edward Blair, Snezana Maljevic, Bertrand Isidor, Bénédicte Héron, Alexandra Afenjar, Benjamin Cogné, Timothy James Maarup, Mary K. Kukolich, Dean Sarco, Steven Petrou, Mary Kay Koenig, André Reis, A.H.M. Mahbubul Huq, Umesh Nair, Thierry Billette de Villemeur, Ye Htet Aung, Caroline Nava, Christiane Zweier
Publikováno v: Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1263-1272 (2019)
Annals of Clinical and Translational Neurology
Objective To analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy‐causing variant p.Arg320His, determine the electrophysiological functional impact of identified variants and explore genotype‐ph
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::650069807d3481a3152165d118ab744f
https://doaj.org/article/54285d5342f7454b9058aec28ec2c677
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4
Mutation update for the SATB2 gene
Autor: Paul R. Mark, Katherine A. Bosanko, Vikas Bhambhani, Steven Sparagana, Laurie S. Sadler, Aisling R. Caffrey, Sixto García-Miñaur, Marilyn C. Jones, Douglas M. Smith, Andrea H. Seeley, Ann Oostra, Donna M. Martin, Marieke F. van Dooren, Melissa Lees, Melanie A. Manning, Meena Balasubramanian, Adeline Vanderver, Valeria Orlando, Maria Lisa Dentici, Ariel Brautbar, Elizabeth Roeder, Dorothy K. Grange, Jennifer L. Fish, Ralitza H. Gavrilova, Lot Snijders Blok, Jane Maclean, Marcelo Vargas, Suzanne I. M. Alsters, Daniela Melis, Lesley Turner, Eliana Kovitch, Yuri A. Zarate, Sakkubai Naidu, Lucía Spangenberg, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Mark H. Lipson, Hilde Van Esch, Maria Schwab, Víctor Raggio, Timothy James Maarup, Marc S. Williams, Jean P. Pfotenhauer, Rebecca O. Littlejohn, Bert Callewaert, Adnan Alsadah, Antonio Martinez-Monseny, Juvianee I. Estrada-Veras
Publikováno v: Zarate, Y A, Bosanko, K A, Caffrey, A R, Bernstein, J A, Martin, D M, Williams, M S, Berry-Kravis, E M, Mark, P R, Manning, M A, Bhambhani, V, Vargas, M, Seeley, A H, Estrada-Veras, J I, van Dooren, M F, Schwab, M, Vanderver, A, Melis, D, Alsadah, A, Sadler, L, Van Esch, H, Callewaert, B, Oostra, A, Maclean, J, Dentici, M L, Orlando, V, Lipson, M, Sparagana, S P, Maarup, T J, Alsters, S I M, Brautbar, A, Kovitch, E, Naidu, S, Lees, M, Smith, D M, Turner, L, Raggio, V, Spangenberg, L, Garcia-Miñaúr, S, Roeder, E R, Littlejohn, R O, Grange, D, Pfotenhauer, J, Jones, M C, Balasubramanian, M, Martinez-Monseny, A, Blok, L S, Gavrilova, R & Fish, J L 2019, ' Mutation update for the SATB2 gene ', Human Mutation, vol. 40, no. 8, pp. 1013-1029 . https://doi.org/10.1002/humu.23771
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Human Mutation, 40, 8, pp. 1013-1029
Human Mutation, 40(8), 1013-1029. Wiley-Liss Inc.
Human Mutation, 40, 1013-1029
SATB2-associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of published pathogenic variants in the SATB2 gene to date and report 38 novel alterations found in
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e618cf5dc8d5560df1a89aab788c591
https://research.vumc.nl/en/publications/a015dcda-8599-43e0-a2f4-230f413d8e17
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