Zobrazeno 1 - 8
of 8
pro vyhledávání: '"van Doormaal PTC"'
Autor:
Tazelaar, GHP, van Rheenen, W, Pulit, SL, van der Spek, RAA, Dekker, AM, Moisse, M, McLaughlin, RL, Sproviero, W, Kenna, KP, Kooyman, M, van Doormaal, PTC, van Eijk, KE, Middelkoop, BM, Schellevis, RD, Brands, WJ, Al-Chalabi, A, Morrison, KE, Shaw, PJ, Shaw, CE, Newhouse, SE, van Es, MA, Basak, AN, Akçimen, F, Kocoglu, C, Tunca, C, Povedano, M, Mora, JS, Glass, JD, Van Damme, P, Robberecht, W, HardimanMD, O, Landers, JE, van den Berg, LH, Veldink, JH
© 2018 American Neurological Association Objective: After the initial report of a CHCHD10 mutation in mitochondrial disease with features resembling amyotrophic lateral sclerosis (ALS), CHCHD10 mutations have been considered to be a frequent cause f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6822f0c8d0228b9641fa10e04b8adf79
https://eprints.soton.ac.uk/425106/
https://eprints.soton.ac.uk/425106/
Autor:
McLaughlin, RL, Schijven, D, Van Rheenen, W, Van Eijk, KR, O'Brien, M, Kahn, RS, Ophoff, RA, Goris, A, Bradley, DG, Al-Chalabi, A, Van Den Berg, LH, Luykx, JJ, Hardiman, O, Veldink, JH, Shatunov, A, Dekker, AM, Diekstra, FP, Pulit, SL, Van Der Spek, RAA, Van Doormaal, PTC, Sproviero, W, Jones, AR, Nicholson, GA, Rowe, DB, Pamphlett, R, Kiernan, MC, Bauer, D, Kahlke, T, Williams, K, Eftimov, F, Fogh, I, Ticozzi, N, Lin, K, Millecamps, S, Salachas, F, Meininger, V, Carvalho, MD, Pinto, S, Mora, JS, Rojas-Garcyá, R, Polak, M, Chandran, S, Colville, S, Swingler, R, Morrison, KE, Shaw, PJ, Hardy, J, Orrell, RW, Pittman, A, Sidle, K, Fratta, P, Malaspina, A, Petri, S, Abdulla, S, Drepper, C, Sendtner, M, Meyer, T, Wiedau-Pazos, M, Lomen-Hoerth, C, Deerlin, VMV, Trojanowski, JQ, Elman, L, McCluskey, L, Basak, N, Meitinger, T, Lichtner, P, Blagojevic-Radivojkov, M, Andres, CR, Maurel, C, Bensimon, G, Landwehrmeyer, B, Brice, A, Payan, CAM, Saker-Delye, S, Durr, A, Wood, N, Tittmann, L, Lieb, W, Franke, A, Rietschel, M, Cichon, S, Nothen, MM, Amouyel, P, Tzourio, C, Dartigues, JF, Uitterlinden, AG, Rivadeneira, F, Estrada, K, Hofman, A, Curtis, C, Derkooi, AJV, De Visser, M, Weber, M, Shaw, CE, Smith, BN, Pansarasa, O, Cereda, C, Bo, RD, Comi, GP, D'Alfonso, S
© 2017 The Author(s). We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______363::ce0ceb00049b656c7a83857308020abb
https://hdl.handle.net/10453/125642
https://hdl.handle.net/10453/125642
Autor:
van Doormaal PTC; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Neurology, Brain Center Rudolph Magnus, Utrecht Medical Center, Utrecht, The Netherlands.; Department of Neurology, Tergooi Medical Center, Hilversum, The Netherlands., Thomas S; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Ajroud-Driss S; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Cole RN; Department of Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., DeVine LR; Department of Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Dimachkie MM; Department of Neurology, Kansas University Medical Center, Kansas City, Missouri, USA., Geisler S; Department of Neurology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA., Freeman R; Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA., Simpson DM; Department of Neurology, Icahn School of Medicine at Mount Sinai Medical Center, New York City, New York, USA., Singleton JR; Department of Neurology, University of Utah School of Medicine, Salt Lake City, Utah, USA., Smith AG; Department of Neurology, Virginia Commonwealth University, Richmond, Virginia, USA., Stino A; Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA., Höke A; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Publikováno v:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2024 Mar; Vol. 29 (1), pp. 88-96. Date of Electronic Publication: 2023 Dec 01.
Autor:
Hamadeh T; Department of Neurology, Maastricht University Medical Center+, Maastricht, The Netherlands., van Doormaal PTC; Department of Neurology, Brain Center Rudolph Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Neurology, Tergooi Medical Center, Hilversum, The Netherlands., Pruppers MHJ; Department of Neurology, Maastricht University Medical Center+, Maastricht, The Netherlands., van de Mortel JPM; Department of Neurology, Brain Center Rudolph Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Hoeijmakers JGJ; Department of Neurology, Maastricht University Medical Center+, Maastricht, The Netherlands., Cornblath DR; Department of Neurology, Johns Hopkins University, Baltimore, Maryland, USA., Vrancken AFJE; Department of Neurology, Brain Center Rudolph Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Faber CG; Department of Neurology, Maastricht University Medical Center+, Maastricht, The Netherlands., Notermans NC; Department of Neurology, Brain Center Rudolph Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Merkies ISJ; Department of Neurology, Maastricht University Medical Center+, Maastricht, The Netherlands.; Department of Neurology, Curacao Medical Center, Willemstad, Curaçao.
Publikováno v:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2023 Jun; Vol. 28 (2), pp. 269-275. Date of Electronic Publication: 2023 Apr 20.
Autor:
Lusing F; Tergooi MC, Blaricum. Afd. Gynaecologie.; Contact: Felicia Lusing (felicialusing@gmail.com)., Willems JGP; Tergooi MC, Blaricum. Afd. Gynaecologie., Kanis MJ; Tergooi MC, Blaricum. Afd. Oogheelkunde., van Doormaal PTC; Tergooi MC, Blaricum. Afd. Neurologie., Roos EJ; Tergooi MC, Blaricum. Afd. Gynaecologie.
Publikováno v:
Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 2023 Mar 06; Vol. 167. Date of Electronic Publication: 2023 Mar 06.
Autor:
Warendorf JK; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands., van Doormaal PTC; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Neurology, Tergooi Hospital, Hilversum, The Netherlands., Vrancken AFJE; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands., Verhoeven-Duif NM; Metabolic Diagnostics, Division Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Eijk RPA; Biostatistics & Research Support, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, The Netherlands., van den Berg LH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands., Notermans NC; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.
Publikováno v:
Nutritional neuroscience [Nutr Neurosci] 2022 Dec; Vol. 25 (12), pp. 2536-2546. Date of Electronic Publication: 2021 Oct 25.
Autor:
van Doormaal PTC; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Neurology, Tergooi Medical Center, Hilversum, The Netherlands., Warendorf JK; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Visser NA; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., de Vries JHM; Division of Human Nutrition and Health, Wageningen University, Wageningen, The Netherlands., Notermans NC; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Vrancken AFJE; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Publikováno v:
Journal of neuromuscular diseases [J Neuromuscul Dis] 2022; Vol. 9 (3), pp. 383-388.
Autor:
van Doormaal PTC; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Ticozzi N; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center-Università degli Studi di Milano, Milan, Italy., Weishaupt JH; Department of Neurology, University of Ulm, Ulm, Germany., Kenna K; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts., Diekstra FP; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Verde F; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center-Università degli Studi di Milano, Milan, Italy., Andersen PM; Department of Pharmacology and Clinical Neuroscience, Umeå University, Umeå, Sweden., Dekker AM; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Tiloca C; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy., Marroquin N; Institute of Human Genetics, University of Ulm, Ulm, Germany., Overste DJ; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Pensato V; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy., Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Pulit SL; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Schellevis RD; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Calini D; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy., Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Institute of Human Genetics, University of Cologne, Cologne, Germany., Francioli LC; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts., Muller B; Project MinE Foundation, Rotterdam, The Netherlands., Castellotti B; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy., Motameny S; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Ratti A; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center-Università degli Studi di Milano, Milan, Italy., Wolf J; Department of Neurology, Diakonissenkrankenhaus Mannheim, Mannheim, Germany., Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy., Ludolph AC; Department of Neurology, University of Ulm, Ulm, Germany., van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Kubisch C; Institute of Human Genetics, Medical Centre Hamburg-Eppendorf, Hamburg, Germany., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts., Veldink JH; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands., Silani V; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Department of Pathophysiology and Transplantation, 'Dino Ferrari' Center-Università degli Studi di Milano, Milan, Italy., Volk AE; Institute of Human Genetics, Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
Publikováno v:
Human mutation [Hum Mutat] 2017 Nov; Vol. 38 (11), pp. 1534-1541. Date of Electronic Publication: 2017 Aug 03.