Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Jens Erik Klint Nielsen"'
Autor:
Pia Jennes Foli-Andersen, Anja Munkholm, Gitte Rønde, Malene Landbo Børresen, Jens Erik Klint Nielsen, Sofie Midgley, Didi Bang
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-5 (2022)
Abstract Background Acute flaccid myelitis is a serious condition of the spinal cord. More than 80% of patients experience a mild respiratory illness or fever consistent with a viral infection prior to acute flaccid myelitis development. Enterovirus
Externí odkaz:
https://doaj.org/article/9183538c8757477baa84a0edd15d2f04
Autor:
Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Hoei-Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Klint Nielsen, Vladimir Kuburovic, Brissia Lazalde-Medina, Baris Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, Maria Luisa Poch-Olive, Igor Prpic, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Smigiel, George Tanteles, Luigi Tarani, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, Livia Garavelli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and
Externí odkaz:
https://doaj.org/article/80124a98602c4794863224c650289c08
Autor:
Hannah C. Happ, Lynette G. Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S. Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan Sands, Vimla Aggarwal, Christopher Elder, Timothy Feyma, Allan Bayat, Rikke S. Møller, Christina D. Fenger, Jens Erik Klint Nielsen, Anita N. Datta, Kathleen M. Gorman, Mary D. King, Natalia D. Linhares, Barbara K. Burton, Andrea Paras, Sian Ellard, Julia Rankin, Anju Shukla, Purvi Majethia, Rory J. Olson, Karthik Muthusamy, Lisa A. Schimmenti, Keith Starnes, Lucie Sedláčková, Katalin Štěrbová, Markéta Vlčková, Petra Laššuthová, Alena Jahodová, Brenda E. Porter, Nathalie Couque, Estelle Colin, Clément Prouteau, Corinne Collet, Thomas Smol, Roseline Caumes, Fleur Vansenne, Francesca Bisulli, Laura Licchetta, Richard Person, Erin Torti, Kirsty McWalter, Richard Webster, Elizabeth E. Gerard, Gaetan Lesca, Pierre Szepetowski, Ingrid E. Scheffer, Heather C. Mefford, Gemma L. Carvill
Publikováno v:
Neurology
Neurology, 2023, 100 (6), pp.e603-e615. ⟨10.1212/WNL.0000000000201492⟩
Neurology, 2023, 100 (6), pp.e603-e615. ⟨10.1212/WNL.0000000000201492⟩
Background and ObjectivesKCNH5encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novoKCNH5variants.MethodsWe screened 893 individuals with developm
Autor:
Hannah C. Happ, Lynette G. Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S. Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan Sands, Vimla Aggarwal, Christopher Elder, Timothy Feyma, Allan Bayat, Rikke S. Møller, Christina D. Fenger, Jens Erik Klint Nielsen, Anita N. Datta, Kathleen M. Gorman, Mary D. King, Natalia Linhares, Barbara K. Burton, Andrea Paras, Sian Ellard, Julia Rankin, Anju Shukla, Purvi Majethia, Rory J. Olson, Karthik Muthusamy, Lisa A Schimmenti, Keith Starnes, Lucie Sedláčková, Katalin Štěrbová, Markéta Vlčková, Petra Laššuthová, Alena Jahodová, Brenda E. Porter, Nathalie Couque, Estelle Colin, Clément Prouteau, Corinne Collet, Thomas Smol, Roseline Caumes, Fleur Vansenne, Francesca Bisulli, Laura Licchetta, Richard Person, Erin Torti, Kirsty McWalter, Richard Webster, Gaetan Lesca, Pierre Szepetowski, Ingrid E. Scheffer, Heather C. Mefford, Gemma L. Carvill
ObjectiveKCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo KCNH5 variants.MethodsWe screened 893 individuals with developmental and epi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2fb9401b8e581a3f6ee5547c636a436
https://hal.archives-ouvertes.fr/hal-03817762
https://hal.archives-ouvertes.fr/hal-03817762
Autor:
Sophie Bayley, Diana Le Duc, Richard Rosch, Matthew R.G. Taylor, Jens Erik Klint Nielsen, Joanna Kennedy, Stephanie Oates, Charlotte Brasch-Andersen, Lina Quteineh, Katrina M. Allis, Bitten Schönewolf-Greulich, Deb K. Pal, Jennifer Baulcomb, Karen Low, Michael Absoud, Georgia Vasileiou, Christian Korff, T. Michael Yates, M. Albert Basson, Rikke S. Møller, Pernille Mathiesen Tørring, Christiane Zweier, Meena Balasubramanian, Sushma Goyal, Maximilian Radtke, Bernt Popp, Amy Riddett, Gitte Rønde, Bert Callewaert, Zeynep Tümer, Emily Todd, Ulrike Hüffmeier, Amelle Shillington, Renkui Bai, Annemarie Sims
Publikováno v:
Oates, S, Absoud, M, Goyal, S, Bayley, S, Baulcomb, J, Sims, A, Riddett, A, Allis, K, Brasch-Andersen, C, Balasubramanian, M, Bai, R, Callewaert, B, Hüffmeier, U, Le Duc, D, Radtke, M, Korff, C, Kennedy, J, Low, K, Møller, R S, Nielsen, J E K, Popp, B, Quteineh, L, Rønde, G, Schönewolf-Greulich, B, Shillington, A, Taylor, M R G, Todd, E, Torring, P M, DMSc, Z T M D P D, Vasileiou, G, Yates, T M, Zweier, C, Rosch, R, Basson, M A & Pal, D K 2021, ' ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder ', Clinical Genetics, vol. 100, no. 4, pp. 412-429 . https://doi.org/10.1111/cge.14023
ZMYND11 is the critical gene in chromosome 10p15.3 microdeletion syndrome, a syndromic cause of intellectual disability. The phenotype of ZMYND11 variants has recently been extended to autism and seizures. We expand on the epilepsy phenotype of 20 in
Autor:
null Stephanie Oates, null Michael Absoud, null Sushma Goyal, null Sophie Bayley, null Jennifer Baulcomb, null Annemarie Sims, null Amy Riddett, null Katrina Allis, null Charlotte Brasch Andersen, null Meena Balasubramanian, null Renkui Bai, null Bert Callewaert, null Ulrike Hüffmeier, null Diana LeDuc, null Maximilian Radtke, null Christian Korff, null Joanna Kennedy, null Karen Low, null Rikke Møller, null Jens Erik Klint Nielsen, null Bernt Popp, null Lina Quteineh, null Gitte Rønde, null Bitten Schönewolf‐Greulich, null Amelle Shillington, null Matthew R. G. Taylor, null Emily Todd, null Pernille M. Toerring, null Zeynep Tümer, null Georgia Vasileiou, null T. Michael Yates, null Christiane Zweier, null Richard Rosch, null M. Albert Basson, null Deb K. Pal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c251d74ff878d534910555523bb1ddf6
https://doi.org/10.1111/cge.14023/v3/response1
https://doi.org/10.1111/cge.14023/v3/response1
Autor:
Emilia Ricci, Francesca Darra, Jens Erik Klint Nielsen, Gaetano Cantalupo, Elena Fiorini, Elena Fontana, Elisabetta Amadori, Francesco Pisani, Bernardo Dalla Bernardina, Pasquale Striano, Tommaso Lo Barco, Robertino Dilena, Cristina Bana, Duccio Maria Cordelli, Elena Gardella, Jacopo Proietti
Objective. Coffin-Siris syndrome (CSS) is a rare congenital malformation syndrome, caused by mutations in the ARID1B gene in over half of the cases. While the clinical characteristics of the syndrome have been increasingly described, a detailed evalu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57c5df09b8f9cad9f0a520d4f41ed4a5
http://hdl.handle.net/11585/857165
http://hdl.handle.net/11585/857165
Autor:
Tamo, Sultan, Jens Erik Klint, Nielsen
Publikováno v:
Ugeskrift for laeger. 182(5)
In this case report, a 14-year-old male presented with episodes of migraine-like headaches preceded by unilateral hemiparaesthesia, hemiparesis, confusion, and dysphasia with the last two lasting more than four hours. The cerebrospinal fluid (CSF) sh
Autor:
Paola Francesca Ajmone, Maria Luisa Poch-Olive, Jens Erik Klint Nielsen, Christiane Zweier, Giovanni Sorge, Marzia Pollazzon, Bert Callewaert, Jeroen Breckpot, Olivera Djuric, Chiara Baldo, Rikke S. Møller, Isabella Mammi, Livia Garavelli, Gioacchino Scarano, Baris Malbora, Alessandro Iodice, Lucio Giordano, Marina Grasso, Alessandro Pellicciari, Marcella Zollino, Daniele De Brasi, Aurélien Trimouille, Ebtesam M. Abdalla, Samantha A. Schrier Vergano, Ina Schanze, Sébastien Moutton, Anna Kutkowska-Kazmierczak, Agata Fiumara, Andrea Conidi, Emilia Ricci, Duccio Maria Cordelli, Roberta Epifanio, Allan Bayat, Federico Bonvicini, Magdalena Badura-Stronka, Lorenzo Iughetti, Tina Duelund Hjortshøj, Anita Rauch, Vladimir Kuburovic, Giulia Montorsi, Elvis rci Te Valera, Debora Formisano, Stefano Giuseppe Caraffi, Krzysztof Szczaluba, Daniela Santodirocco, Sabine Grønborg, Francesca Faravelli, Maria Antonietta Pisanti, Didier Lacombe, Gijs W. E. Santen, Margherita Silengo, Ivan Ivanovski, Luis G. Tone, Goran Cuturilo, Francesca Mari, Guido Cocchi, Margaret P. Adam, Simonetta Rosato, Chiara Pantaleoni, Patrizia Accorsi, Nicoletta Zanotta, Ewa Obersztyn, Maddalena Baldi, Angelo Selicorni, Alessandra Renieri, Annick Toutain, Mary Beth Dinulos, Petra Muschke, Luigina Spaccini, Luigi Tarani, Igor Prpić, Francesca Rivieri, Koenraad Devriendt, Stefania Bigoni, Robert Smigiel, Anna Luchetti, Federico Raviglione, Martin Zenker, Caterina Lo Rizzo, Salvatore Savasta
Publikováno v:
Genetics in Medicine, 20(9), 965-975. Lippincott Williams & Wilkins
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C & Pellicciari, A 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics in Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Genetics in Medicine
GENETICS IN MEDICINE
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, M A, Prpic, I, Poch-Olive, M L, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, G W, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zenker, M, Conidi, A, Zollino, M, Rauch, A, Zweier, C & Garavelli, L 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics In Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Volume 20
Issue 9
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C & Pellicciari, A 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics in Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Genetics in Medicine
GENETICS IN MEDICINE
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, M A, Prpic, I, Poch-Olive, M L, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, G W, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zenker, M, Conidi, A, Zollino, M, Rauch, A, Zweier, C & Garavelli, L 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics In Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Volume 20
Issue 9
PurposeMowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::594a350d1254cd94b377a69599bd8301
https://pure.eur.nl/en/publications/4b4c8f16-695b-49be-91d2-48752f3de9da
https://pure.eur.nl/en/publications/4b4c8f16-695b-49be-91d2-48752f3de9da
Publikováno v:
Ugeskrift for laeger. 181(28)
This case report describes a seven-year-old girl with autism and nightly "anxiety" attacks. A diagnosis of Alice in Wonderland syndrome (AIWS) presumably associated to migraine was made, and the girl was successfully treated with lamotrigine. Effecti