Search Results - "Egmond, Martje E."

Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities by Steel, Dora, Zech, Michael, Zhao, Chen, Barwick, Katy E. S., Burke, Derek, Demailly, Diane, Kumar, Kishore R., Zorzi, Giovanna, Nardocci, Nardo, Kaiyrzhanov, Rauan, Wagner, Matias, Iuso, Arcangela, Berutti, Riccardo, Škorvánek, Matej, Necpál, Ján, Davis, Ryan, Wiethoff, Sarah, Mankad, Kshitij, Sudhakar, Sniya, Ferrini, Arianna, Sharma, Suvasini, Kamsteeg, Erik‐Jan, Tijssen, Marina A., Verschuuren, Corien, Egmond, Martje E., Flowers, Joanna M., McEntagart, Meriel, Tucci, Arianna, Coubes, Philippe, Bustos, Bernabe I., Gonzalez‐Latapi, Paulina, Tisch, Stephen, Darveniza, Paul, Gorman, Kathleen M., Peall, Kathryn J., Bötzel, Kai, Koch, Jan C., Kmieć, Tomasz, Plecko, Barbara, Boesch, Sylvia, Haslinger, Bernhard, Jech, Robert, Garavaglia, Barbara, Wood, Nick, Houlden, Henry, Gissen, Paul, Lubbe, Steven J., Sue, Carolyn M., Cif, Laura, Mencacci, Niccolò E., Anderson, Glenn, Kurian, Manju A., Winkelmann, Juliane

“…Objectives The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes…”
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New developments in diagnostics and treatment of adult-onset focal dystonia by Centen, Liesanne M., van Egmond, Martje E., Tijssen, Marina A.J.

“…The aim of this review is to showcase the recent developments in the field of diagnosis and treatment of adult-onset focal dystonia. Accurate phenotyping of…”
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Bilateral Pallidotomy for Dystonia: A Systematic Review by Centen, Liesanne M., Oterdoom, D.L. Marinus, Tijssen, Marina A.J., Lesman‐Leegte, Ivon, Egmond, Martje E., Dijk, J. Marc C.

“…Stereotactic lesioning of the bilateral globus pallidus (GPi) was one of the first surgical treatments for medication‐refractory dystonia but has largely been…”
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A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism by Koens, Lisette H., Klamer, Marrit R., Sival, Deborah A., Balint, Bettina, Bhatia, Kailash P., Contarino, Maria Fiorella, Egmond, Martje E., Erro, Roberto, Friedman, Jennifer, Fung, Victor S.C., Ganos, Christos, Kurian, Manju A., Lang, Anthony E., McGovern, Eavan M., Roze, Emmanuel, Koning, Tom J., Tijssen, Marina A.J.

“…Background Movement disorders are frequent in patients with inborn errors of metabolism (IEMs) but poorly recognized, particularly by nonmovement disorder…”
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Diagnostic approach to paediatric movement disorders: a clinical practice guide by Brandsma, Rick, Egmond, Martje E, Tijssen, Marina A J, Eggink, H, Gelauff, J M, Koens, L H, de Koning, T J, Sival, D A, van der Stouwe, A M M, van der Veen, S, Zutt, R

“…Paediatric movement disorders (PMDs) comprise a large group of disorders (tics, myoclonus, tremor, dystonia, chorea, Parkinsonism, ataxia), often with mixed…”
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Ramsay hunt syndrome: Clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation by van Egmond, Martje E., Verschuuren-Bemelmans, Corien C., Nibbeling, Esther A., Elting, Jan Willem J., Sival, Deborah A., Brouwer, Oebele F., de Vries, Jeroen J., Kremer, Hubertus P., Sinke, Richard J., Tijssen, Marina A., de Koning, Tom J.

“…ABSTRACT Background Ramsay Hunt syndrome (progressive myoclonus ataxia) is a descriptive diagnosis characterized by myoclonus, ataxia, and infrequent seizures…”
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Variable Interpretation of the Dystonia Consensus Classification Items Compromises Its Solidity by Egmond, Martje E., Contarino, Maria Fiorella, Lugtenberg, Coen H.A., Peall, Kathryn J., Brouwer, Oebele F., Fung, Victor S.C., Roze, Emmanuel, Stewart, Roy E., Willemsen, Michel A., Wolf, Nicole I., Koning, Tom J., Tijssen, Marina A.

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A novel diagnostic approach for patients with adult-onset dystonia by van Egmond, Martje E, Lagrand, Tjerk J, Lizaitiene, Gintaute, Smit, Marenka, Tijssen, Marina A J

“…Adult-onset dystonia can be acquired, inherited or idiopathic. The dystonia is usually focal or segmental and for a limited number of cases causal treatment is…”
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Reversal of Status Dystonicus after Relocation of Pallidal Electrodes in DYT6 Generalized Dystonia by Oterdoom, D L Marinus, van Egmond, Martje E, Ascencao, Luisa Cassini, van Dijk, J Marc C, Saryyeva, Assel, Beudel, Martijn, Runge, Joachim, de Koning, Tom J, Abdallat, Mahmoud, Eggink, Hendriekje, Tijssen, Marina A J, Krauss, Joachim K

“…BackgroundDYT6 dystonia can have an unpredictable clinical course and the result of deep brain stimulation (DBS) of the internal part of the globus pallidus…”
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Van Buchem disease: Clinical, biochemical, and densitometric features of patients and disease carriers by van Lierop, Antoon H, Hamdy, Neveen AT, van Egmond, Martje E, Bakker, Egbert, Dikkers, Freek G, Papapoulos, Socrates E

“…Van Buchem disease (VBD) is a rare bone sclerosing dysplasia caused by the lack of a regulatory element of the SOST gene, which encodes for sclerostin, an…”
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Cortical Myoclonus in a Young Boy with GOSR2 Mutation Mimics Chorea by Egmond, Martje E., Kuiper, Anouk, Elting, Jan Willem J., Brouwer, Oebele F., Koning, Tom J., Tijssen, Marina A.J.

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Dystonia management across Europe within ERN-RND: current state and future challenges by Centen, Liesanne M., Pinter, David, van Egmond, Martje E., Graessner, Holm, Kovacs, Norbert, Koy, Anne, Perez-Dueñas, Belen, Reinhard, Carola, Tijssen, Marina A. J., Boesch, Sylvia

“…Background Since the first European-wide evaluation of dystonia management in 2016, several efforts have been made to improve dystonia-care. One of these was…”
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Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm by van Egmond, Martje E, Kuiper, Anouk, Eggink, Hendriekje, Sinke, Richard J, Brouwer, Oebele F, Verschuuren-Bemelmans, Corien C, Sival, Deborah A, Tijssen, Marina A J, de Koning, Tom J

“…Early aetiological diagnosis is of paramount importance for childhood dystonia because some of the possible underlying conditions are treatable. Numerous…”
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Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience by van Rappard, Diane F., Boelens, Jaap J., van Egmond, Martje E., Kuball, Jurgen, van Hasselt, Peter M., Oostrom, Kim J., Pouwels, Petra J.W., van der Knaap, Marjo S., Hollak, Carla E.M., Wolf, Nicole I.

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Non-motor effects of deep brain stimulation in dystonia: A systematic review by Eggink, Hendriekje, Szlufik, Stanislaw, Coenen, Maraike A., van Egmond, Martje E., Moro, Elena, Tijssen, Marina A.J.

“…Deep brain stimulation (DBS) has emerged as an effective treatment in medically intractable dystonia, with the globus pallidus internus (GPi) being most…”
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A novel diagnostic approach to patients with myoclonus by Zutt, Rodi, van Egmond, Martje E., Elting, Jan Willem, van Laar, Peter Jan, Brouwer, Oebele F., Sival, Deborah A., Kremer, Hubertus P., de Koning, Tom J., Tijssen, Marina A.

“…Key Points Myoclonus is characterized by sudden, involuntary jerks, and can be caused by a variety of acquired and genetic factors Clinical neurophysiological…”
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Toward adaptive deep brain stimulation for dystonia by Piña-Fuentes, Dan, Beudel, Martijn, Little, Simon, van Zijl, Jonathan, Elting, Jan Willem, Oterdoom, D L Marinus, van Egmond, Martje E, van Dijk, J Marc C, Tijssen, Marina A J

“…The presence of abnormal neural oscillations within the cortico-basal ganglia-thalamo-cortical (CBGTC) network has emerged as one of the current principal…”
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Objective clinical registration of tremor, bradykinesia, and rigidity during awake stereotactic neurosurgery: a scoping review by Smid, Annemarie, Dominguez-Vega, Zeus T., van Laar, Teus, Oterdoom, D. L. Marinus, Absalom, Anthony R., van Egmond, Martje E., Drost, Gea, van Dijk, J. Marc C.

“…Tremor, bradykinesia, and rigidity are incapacitating motor symptoms that can be suppressed with stereotactic neurosurgical treatment like deep brain…”
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A post hoc study on gene panel analysis for the diagnosis of dystonia by van Egmond, Martje E., Lugtenberg, Coen H.A., Brouwer, Oebele F., Contarino, Maria Fiorella, Fung, Victor S.C., Heiner‐Fokkema, M. Rebecca, van Hilten, Jacobus J., van der Hout, Annemarie H., Peall, Kathryn J., Sinke, Richard J., Roze, Emmanuel, Verschuuren‐Bemelmans, Corien C., Willemsen, Michel A., Wolf, Nicole I., Tijssen, Marina A., de Koning, Tom J.

“…ABSTRACT Background: Genetic disorders causing dystonia show great heterogeneity. Recent studies have suggested that next‐generation sequencing techniques such…”
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Are we on the right track in DBS surgery for dystonic head tremor? Polymyography is a promising answer by Kremer, Naomi I., Oterdoom, D.L. Marinus, Absalom, Anthony R., ten Cate, David W., van Dijk, J. Marc C., van Egmond, Martje E., Drost, Gea

“…The clinical benefit of Deep Brain Stimulation (DBS) is associated with electrode positioning accuracy. Intraoperative assessment of clinical effect is…”
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