Search Results - "SCHELHAAS, Helenius J"

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy by Neveling, Kornelia, Martinez-Carrera, Lilian A., Hölker, Irmgard, Heister, Angelien, Verrips, Aad, Hosseini-Barkooie, Seyyed Mohsen, Gilissen, Christian, Vermeer, Sascha, Pennings, Maartje, Meijer, Rowdy, te Riele, Margot, Frijns, Catharina J.M., Suchowersky, Oksana, MacLaren, Linda, Rudnik-Schöneborn, Sabine, Sinke, Richard J., Zerres, Klaus, Lowry, R. Brian, Lemmink, Henny H., Garbes, Lutz, Veltman, Joris A., Schelhaas, Helenius J., Scheffer, Hans, Wirth, Brunhilde

“…Spinal muscular atrophy (SMA) is a heterogeneous group of neuromuscular disorders caused by degeneration of lower motor neurons. Although functional loss of…”
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People with epilepsy and intellectual disability: More than a sum of two conditions by Snoeijen-Schouwenaars, Francesca M., Young, Charlotte, Rowe, Charles, van Ool, Jans S., Schelhaas, Helenius J., Shankar, Rohit

“…•Epilepsy is significantly associated with people with intellectual disability (PwID).•People with intellectual disability with treatment-resistant epilepsy in…”
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Autoantibodies to cytosolic 5′-nucleotidase 1A in inclusion body myositis by Pluk, Helma, van Hoeve, Bas J. A., van Dooren, Sander H. J., Stammen-Vogelzangs, Judith, van der Heijden, Annemarie, Schelhaas, Helenius J., Verbeek, Marcel M., Badrising, Umesh A., Arnardottir, Snjolaug, Gheorghe, Karina, Lundberg, Ingrid E., Boelens, Wilbert C., van Engelen, Baziel G., Pruijn, Ger J. M.

“…Objective Sporadic inclusion body myositis (sIBM) is an inflammatory myopathy characterized by both degenerative and autoimmune features. In contrast to other…”
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Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19 by Duarri, Anna, Jezierska, Justyna, Fokkens, Michiel, Meijer, Michel, Schelhaas, Helenius J., den Dunnen, Wilfred F. A., van Dijk, Freerk, Verschuuren-Bemelmans, Corien, Hageman, Gerard, van de Vlies, Pieter, Küsters, Benno, van de Warrenburg, Bart P., Kremer, Berry, Wijmenga, Cisca, Sinke, Richard J., Swertz, Morris A., Kampinga, Harm H., Boddeke, Erik, Verbeek, Dineke S.

“…Objective: To identify the causative gene for the neurodegenerative disorder spinocerebellar ataxia type 19 (SCA19) located on chromosomal region 1p21‐q21…”
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UNC13A is a modifier of survival in amyotrophic lateral sclerosis by Diekstra, Frank P, van Vught, Paul W.J, van Rheenen, Wouter, Koppers, Max, Pasterkamp, R. Jeroen, van Es, Michael A, Schelhaas, Helenius J, de Visser, Marianne, Robberecht, Wim, Van Damme, Philip, Andersen, Peter M, van den Berg, Leonard H, Veldink, Jan H

“…Abstract A large genome-wide screen in patients with sporadic amyotrophic lateral sclerosis (ALS) showed that the common variant rs12608932 in gene UNC13A was…”
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Euthanasia and physician-assisted suicide in amyotrophic lateral sclerosis: a prospective study by Maessen, Maud, Veldink, Jan H., Onwuteaka-Philipsen, Bregje D., Hendricks, Henk T., Schelhaas, Helenius J., Grupstra, Hepke F., van der Wal, Gerrit, van den Berg, Leonard H.

“…The objective of this study is to determine if quality of care, symptoms of depression, disease characteristics and quality of life of patients with…”
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VCP mutations in familial and sporadic amyotrophic lateral sclerosis by Koppers, Max, van Blitterswijk, Marka M, Vlam, Lotte, Rowicka, Paulina A, van Vught, Paul W.J, Groen, Ewout J.N, Spliet, Wim G.M, Engelen-Lee, JooYeon, Schelhaas, Helenius J, de Visser, Marianne, van der Kooi, Anneke J, van der Pol, W-Ludo, Pasterkamp, R. Jeroen, Veldink, Jan H, van den Berg, Leonard H

“…Abstract Mutations in the valosin-containing protein (VCP) gene were recently reported to be the cause of 1%–2% of familial amyotrophic lateral sclerosis (ALS)…”
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VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient by van Blitterswijk, Marka, van Es, Michael A, Koppers, Max, van Rheenen, Wouter, Medic, Jelena, Schelhaas, Helenius J, van der Kooi, Anneke J, de Visser, Marianne, Veldink, Jan H, van den Berg, Leonard H

“…Abstract Previously, we have reported amyotrophic lateral sclerosis (ALS) families with multiple mutations in major ALS-associated genes. These findings…”
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Genetic overlap between apparently sporadic motor neuron diseases by van Blitterswijk, Marka, Vlam, Lotte, van Es, Michael A, van der Pol, W-Ludo, Hennekam, Eric A M, Dooijes, Dennis, Schelhaas, Helenius J, van der Kooi, Anneke J, de Visser, Marianne, Veldink, Jan H, van den Berg, Leonard H

“…Progressive muscular atrophy (PMA) and amyotrophic lateral sclerosis (ALS) are devastating motor neuron diseases (MNDs), which result in muscle weakness and/or…”
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Evidence for an oligogenic basis of amyotrophic lateral sclerosis by BLITTERSWIJK, Marka Van, ES, Michael A. Van, DE BAKKER, Paul I. W, VELDINK, Jan H, DEN BERG, Leonard H. Van, HENNEKAM, Eric A. M, DOOIJES, Dennis, RHEENEN, Wouter Van, MEDIC, Jelena, BOURQUE, Pierre R, SCHELHAAS, Helenius J, DER KOOI, Anneke J. Van, DE VISSER, Marianne

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Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients by van Blitterswijk, Marka, van Vught, Paul W.J, van Es, Michael A, Schelhaas, Helenius J, van der Kooi, Anneke J, de Visser, Marianne, Veldink, Jan H, van den Berg, Leonard H

“…Abstract Optineurin ( OPTN ) mutations have been reported in a cohort of Japanese patients with familial (FALS) and sporadic (SALS) amyotrophic lateral…”
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Monitoring disease progression using high-density motor unit number estimation in amyotrophic lateral sclerosis by van Dijk, Johannes P., Schelhaas, Helenius J., Van Schaik, Ivo N., Janssen, Henny M.H.A., Stegeman, Dick F., Zwarts, Machiel J.

“…In amyotrophic lateral sclerosis (ALS), progressive motor neuron loss causes severe weakness. Functional measurements tend to underestimate the underlying…”
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ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia by Vermeer, Sascha, Meijer, Rowdy P. P., Pijl, Benjamin J., Timmermans, Janneke, Cruysberg, Johannes R. M., Bos, Maaike M., Schelhaas, Helenius J., van de Warrenburg, Bart. P. C., Knoers, Nine V. A. M., Scheffer, Hans, Kremer, Berry

“…Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS: MIM 270550) is a neurodegenerative disorder characterized by early-onset cerebellar ataxia…”
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Evidence for an oligogenic basis of amyotrophic lateral sclerosis by van Blitterswijk, Marka, van Es, Michael A, Hennekam, Eric A M, Dooijes, Dennis, van Rheenen, Wouter, Medic, Jelena, Bourque, Pierre R, Schelhaas, Helenius J, van der Kooi, Anneke J, de Visser, Marianne, de Bakker, Paul I W, Veldink, Jan H, van den Berg, Leonard H

“…Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with a substantial heritable component. In pedigrees affected by its familial form,…”
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Psychogenic non‐epileptic (functional) seizures in adults with intellectual disability and epilepsy: A matched case–control study by Kloosterman, Iris E. M., Haenen, Alexandra I., Poortvliet‐Koedam, Esther L. G. E., Lazeron, Richard H. C., Schelhaas, Helenius J., Ool, Jans S.

“…Objective To describe the characteristics of psychogenic non‐epileptic (functional) seizures (PNES) in adults with epilepsy and intellectual disability (ID)…”
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SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes by van Hugte, Eline J H, Lewerissa, Elly I, Wu, Ka Man, Scheefhals, Nicky, Parodi, Giulia, van Voorst, Torben W, Puvogel, Sofia, Kogo, Naoki, Keller, Jason M, Frega, Monica, Schubert, Dirk, Schelhaas, Helenius J, Verhoeven, Judith, Majoie, Marian, van Bokhoven, Hans, Nadif Kasri, Nael

“…Dravet syndrome is a severe epileptic encephalopathy, characterized by (febrile) seizures, behavioural problems and developmental delay. Eighty per cent of…”
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Effect of small motor unit potentials on the motor unit number estimate by van Dijk, Johannes P., Zwarts, Machiel J., Schelhaas, Helenius J., Stegeman, Dick F.

“…Small surface motor unit potentials (S‐MUPs) may have a negative influence on the variability of the motor unit number estimate (MUNE). According to published…”
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Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability by Snoeijen‐Schouwenaars, Francesca M., van Ool, Jans S., Verhoeven, Judith S., Mierlo, Petra, Braakman, Hilde M. H., Smeets, Eric E., Nicolai, Joost, Schoots, Jeroen, Teunissen, Mariel W. A., Rouhl, Rob P. W., Tan, In Y., Yntema, Helger G., Brunner, Han G., Pfundt, Rolph, Stegmann, Alexander P., Kamsteeg, Erik‐Jan, Schelhaas, Helenius J., Willemsen, Marjolein H.

“…Summary Objective Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure control is often difficult. Identification of the…”
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The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions by SIMON-SANCHEZ, Javier, DOPPER, Elise G. P, SMITS, Marion, RAAPHORST, Joost, DEN BERG, Leonard H. Van, SCHELHAAS, Helenius J, DE DIE-SMULDERS, Christine E. M, MAJOOR-KRAKAUER, Danielle, ROZEMULLER, Annemieke J. M, WILLEMSEN, Rob, PIJNENBURG, Yolande A. L, HEUTINK, Peter, COHN-HOKKE, Petra E, SWIETEN, John C. Van, HUKEMA, Renate K, NICOLAOU, Nayia, SEELAAR, Harro, DE GRAAF, J. Roos A, DE KONING, Inge, SCHOOR, Natasja M. Van, DEEG, Dorly J. H

“…There is increasing evidence that frontotemporal dementia and amyotrophic lateral sclerosis are part of a disease continuum. Recently, a hexanucleotide repeat…”
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Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability by Wei, Aguan D, Wakenight, Paul, Zwingman, Theresa A, Bard, Angela M, Sahai, Nikhil, Willemsen, Marjolein H, Schelhaas, Helenius J, Stegmann, Alexander P A, Verhoeven, Judith S, de Man, Stella A, Wessels, Marja W, Kleefstra, Tjitske, Shinde, Deepali N, Helbig, Katherine L, Basinger, Alice, Wagner, Victoria F, Rodriguez-Buritica, David, Bryant, Emily, Millichap, John J, Millen, Kathleen J, Dobyns, William B, Ramirez, Jan-Marino, Kalume, Franck K

“…We identified six novel de novo human variants in children with motor/language delay, intellectual disability (ID), and/or epilepsy by whole exome sequencing…”
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