Výsledky vyhledávání - "H Jurgen Schelhaas"

Autor: Dieuwke van Dartel, Cecile C de Vos, H Jurgen Schelhaas, Albert J Colon, Kuan Hua Kho

Publikováno v: Journal of breath research, 14(3):031001. IOP Publishing Ltd.
JOURNAL OF BREATH RESEARCH, 14(3):031001. IOP Publishing Ltd.

The aim of this proof of concept study is to investigate if an electronic nose (eNose) is able to make a distinction between breath profiles of diagnosed epilepsy patients and epilepsy-free control subjects. An eNose is a non-invasive device, with a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dca5bc20a214ce8227398fc4e7b672c4
https://research.utwente.nl/en/publications/99c6c97f-93db-4691-9f89-74a00ec05463

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Psychogenic nonepileptic seizures in adults with epilepsy and intellectual disability: A neglected area

Autor: Jos G.M. Hendriksen, Jans S. van Ool, In Y. Tan, Nynke M.G. Bodde, Alexandra I. Haenen, Francesca M. Snoeijen-Schouwenaars, Albert P. Aldenkamp, H. Jurgen Schelhaas, R.H.C. Lazeron

Publikováno v: Seizure, 59, 67-71. W.B. Saunders Ltd
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 59, 67-71. Elsevier Saunders

Purpose: To describe the main characteristics of psychogenic nonepileptic seizures (PNES) in adults with epilepsy and intellectual disability (ID), and to analyse the differences regarding psychosocial functioning, epilepsy severity and ID between pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::862f70c8082a0cbe912789badc29274c
https://research.tue.nl/nl/publications/35678738-ce72-47c1-9a3e-bae6cd1a56d8

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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Autor: Katherine L. Helbig, Robert J. Lauerer, Jacqueline C. Bahr, Ivana A. Souza, Candace T. Myers, Betül Uysal, Niklas Schwarz, Maria A. Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina R. Fagerberg, Kristina P. Soerensen, Maria Kibaek, Erik-Jan Kamsteeg, David A. Koolen, Boudewijn Gunning, H. Jurgen Schelhaas, Michael C. Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-Lopez, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilguvar, Antigone Papavasileiou, Qinghe Xing, Changlian Zhu, Katja Boysen, Filippo Vairo, Brendan C. Lanpher, Eric W. Klee, Jan-Mendelt Tillema, Eric T. Payne, Margot A. Cousin, Teresa M. Kruisselbrink, Myra J. Wick, Joshua Baker, Eric Haan, Nicholas Smith, Azita Sadeghpour, Erica E. Davis, Nicholas Katsanis, Mark A. Corbett, Alastair H. MacLennan, Jozef Gecz, Saskia Biskup, Eva Goldmann, Lance H. Rodan, Elizabeth Kichula, Eric Segal, Kelly E. Jackson, Alexander Asamoah, David Dimmock, Julie McCarrier, Lorenzo D. Botto, Francis Filloux, Tatiana Tvrdik, Gregory D. Cascino, Sherry Klingerman, Catherine Neumann, Raymond Wang, Jessie C. Jacobsen, Melinda A. Nolan, Russell G. Snell, Klaus Lehnert, Lynette G. Sadleir, Britt-Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J. Friez, Michael J. Lyons, Jennifer Leonhard, Gabriel Kringlen, Kari Casas, Christelle M. El Achkar, Lacey A. Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis-Juan, Keren J. Carss, Julia Rankin, Adam Zeman, F. Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka, Ulrike B.S. Hedrich, Ingrid E. Scheffer, Ingo Helbig, Gerald W. Zamponi, Holger Lerche, Heather C. Mefford, Alexander Allori, Misha Angrist, Patricia Ashley, Margarita Bidegain, Brita Boyd, Eileen Chambers, Heidi Cope, C. Michael Cotten, Theresa Curington, Sarah Ellestad, Kimberley Fisher, Amanda French, William Gallentine, Ronald Goldberg, Kevin Hill, Sujay Kansagra, Sara Katsanis, Joanne Kurtzberg, Jeffrey Marcus, Marie McDonald, Mohammed Mikati, Stephen Miller, Amy Murtha, Yezmin Perilla, Carolyn Pizoli, Todd Purves, Sherry Ross, Edward Smith, John Wiener

Publikováno v: American Journal of Human Genetics, 103, 666-678
Deciphering Developmental Disorders Study 2018, ' De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias ', American Journal of Human Genetics, vol. 103, no. 5, pp. 666-678 . https://doi.org/10.1016/j.ajhg.2018.09.006
American Journal of Human Genetics, 103, 5, pp. 666-678
American journal of human genetics, vol 103, iss 5

Item does not contain fulltext Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94c2ddc9d5f68e0eed9530ef99151563
http://hdl.handle.net/2066/200025

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Effect of Presymptomatic Body Mass Index and Consumption of Fat and Alcohol on Amyotrophic Lateral Sclerosis

Autor: Jan H. Veldink, Marianne de Visser, Leonard H. van den Berg, Mark H B Huisman, Jeanne H.M. de Vries, Anneke J. van der Kooi, Meinie Seelen, Perry T.C. van Doormaal, H. Jurgen Schelhaas, Sonja W. de Jong

Publikováno v: JAMA Neurology 72 (2015) 10
JAMA Neurology, 72(10), 1155-1162
JAMA Neurology, 72(10), 1155-1162. American Medical Association

IMPORTANCE Because dietary intakemay influence pathophysiologic mechanisms in sporadic amyotrophic lateral sclerosis (ALS), the association between premorbid dietary intake and the risk of sporadic ALS will provide insight into which mechanisms are p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b676689ef195adacd31dc0324dec449
https://doi.org/10.1001/jamaneurol.2015.1584

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Phenytoin as a last-resort treatment in

Autor: Hilde M, Braakman, Judith S, Verhoeven, Corrie E, Erasmus, Charlotte A, Haaxma, Marjolein H, Willemsen, H Jurgen, Schelhaas

Publikováno v: Epilepsia Open

Summary SCN8A encodes Nav1.6, one of the main voltage‐gated sodium channel subunits in the brain, and SCN8A mutations lead to epileptic encephalopathy. Particular mutations render the mutant channel more susceptible to inhibition by phenytoin. Yet,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::db306fe775162654961c3068b859a9fd
https://pubmed.ncbi.nlm.nih.gov/29588963

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Phenytoin as a last-resort treatment in SCN8A encephalopathy

Autor: Judith S. Verhoeven, Marjolein H. Willemsen, H. Jurgen Schelhaas, Charlotte A. Haaxma, Hilde M.H. Braakman, Corrie E. Erasmus

Publikováno v: Epilepsia Open, 2, 343-344
Epilepsia Open, 2, 3, pp. 343-344

SCN8A encodes Nav1.6, one of the main voltage-gated sodium channel subunits in the brain, and SCN8A mutations lead to epileptic encephalopathy. Particular mutations render the mutant channel more susceptible to inhibition by phenytoin. Yet, the poten

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3be435112f39b495287c4c2395e4fbca
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/175085

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Cumulative effect of 5 daily sessions of theta burst stimulation on corticospinal excitability in amyotrophic lateral sclerosis

Autor: Machiel J. Zwarts, Sebastiaan Overeem, H. Jurgen Schelhaas, Jan J. Rongen, Dick F. Stegeman, Moniek A. M. Munneke

Publikováno v: Muscle & Nerve. 48:733-738

Introduction: Excitotoxicity plays an important role in the pathogenesis of the preferential motor neuron death observed in amyotrophic lateral sclerosis (ALS). Continuous theta burst stimulation (cTBS) by transcranial magnetic stimulation has an inh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cf21c46853c995174e552552e37a330a
https://doi.org/10.1002/mus.23818

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Structural MRI reveals cortical thinning in amyotrophic lateral sclerosis

Autor: Martijn P. van den Heuvel, Jeroen Hendrikse, Jan H. Veldink, Esther Verstraete, H. Jurgen Schelhaas, Leonard H. van den Berg

Publikováno v: Journal of Neurology, Neurosurgery and Psychiatry, 83(4), 383-388. BMJ Publishing Group
Journal of Neurology, Neurosurgery, and Psychiatry, 83, 4, pp. 383-8
Journal of Neurology, Neurosurgery, and Psychiatry, 83, 383-8
Verstraete, E, Veldink, J H, Hendrikse, J, Schelhaas, H J, Van Den Heuvel, M P & Van Den Berg, L H 2012, ' Structural MRI reveals cortical thinning in amyotrophic lateral sclerosis ', Journal of Neurology, Neurosurgery and Psychiatry, vol. 83, no. 4, pp. 383-388 . https://doi.org/10.1136/jnnp-2011-300909

Item does not contain fulltext OBJECTIVES: Amyotrophic lateral sclerosis (ALS) is a fatal disease characterised by combined upper and lower motor neuron degeneration. An early and accurate diagnosis is important for patient care and might facilitate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9184556ddd1dcba5328f8221af2d81e
http://www.scopus.com/inward/record.url?scp=84857996232&partnerID=8YFLogxK

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Lithium lacks effect on survival in amyotrophic lateral sclerosis: a phase IIb randomised sequential trial

Autor: Ingeborg van der Tweel, Esther Verstraete, H. Jurgen Schelhaas, Anneke J. van der Kooi, Esther V. Uijtendaal, Mark H B Huisman, Leonard H. van den Berg, Tim Draak, Marianne de Visser, Jan H. Veldink

Publikováno v: Journal of Neurology, Neurosurgery, and Psychiatry, 83, 557-64
Journal of Neurology, Neurosurgery, and Psychiatry, 83, 5, pp. 557-64
Journal of neurology, neurosurgery, and psychiatry, 83(5), 557-564. BMJ Publishing Group

Item does not contain fulltext OBJECTIVES: To determine the safety and efficacy of lithium for the treatment of amyotrophic lateral sclerosis (ALS) in a randomised, placebo controlled, double blind, sequential trial. METHODS: Between November 2008 an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e0c13bd6149658852348b2e184ae11b
https://doi.org/10.1136/jnnp-2011-302021

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Normal values for quantitative muscle ultrasonography in adults

Autor: Ilse M.P. Arts, Sigrid Pillen, Machiel J. Zwarts, Sebastiaan Overeem, H. Jurgen Schelhaas

Publikováno v: Muscle & Nerve. 41:32-41

Ultrasonography can detect structural muscle changes caused by neuromuscular disease. Quantitative analysis is the preferred method to determine if ultrasound findings are within normal limits, but normative data are incomplete. The purpose of this s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b98ceeca205afd4bebd923f2181f2e8b
https://doi.org/10.1002/mus.21458

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