Works matching AU de Visser, Marianne

Results: 99

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

Published in:

Human Mutation, 2008, v. 29, n. 5, p. 670, doi. 10.1002/humu.20696

By:

Monnier, Nicole;
Marty, Isabelle;
Faure, Julien;
Castiglioni, Claudia;
Desnuelle, Claude;
Sacconi, Sabrina;
Estournet, Brigitte;
Ferreiro, Ana;
Romero, Norma;
Laquerriere, Annie;
Lazaro, Leila;
Martin, Jean-Jacques;
Morava, Eva;
Rossi, Annick;
Van der Kooi, Anneke;
de Visser, Marianne;
Verschuuren, Corien;
Lunardi, Joël

Publication type:

Article

Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.

Published in:

Human Mutation, 2006, v. 27, n. 9, p. 906, doi. 10.1002/humu.20351

By:

Goudeau, Bertrand;
Rodrigues-Lima, Fernando;
Fischer, Dirk;
Casteras-Simon, Monique;
Sambuughin, Nyamkhishig;
de Visser, Marianne;
Laforet, Pascal;
Ferrer, Xavier;
Chapon, Françoise;
Sjöberg, Gunnar;
Kostareva, Anna;
Sejersen, Thomas;
Dalakas, Marinos C.;
Goldfarb, Lev G.;
Vicart, Patrick

Publication type:

Article

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.

Published in:

JAMA Neurology, 2017, v. 74, n. 6, p. 686, doi. 10.1001/jamaneurol.2016.4357

By:

Sommerville, Ewen W.;
Yi Shiau Ng;
Alston, Charlotte L.;
Dallabona, Cristina;
Gilberti, Micol;
Langping He;
Knowles, Charlotte;
Chin, Sophie L.;
Schaefer, Andrew M.;
Falkous, Gavin;
Murdoch, David;
Longman, Cheryl;
de Visser, Marianne;
Bindoff, Laurence A.;
Rawles, John M.;
Dean, John C. S.;
Petty, Richard K.;
Farrugia, Maria E.;
Haack, Tobias B.;
Prokisch, Holger

Publication type:

Article

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

Published in:

JAMA Neurology, 2015, v. 72, n. 10, p. 1155, doi. 10.1001/jamaneurol.2015.1584

By:

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

Publication type:

Article

Jean Marie Baptiste Vianney de Jong (1937–2024).

Published in:

2025

By:

Baas, Frank;
van der Kooi, Anneke;
Stam, Jan;
de Visser, Marianne

Publication type:

Obituary

The involvement of palliative care with neurology – a comparison of UK, Switzerland and Italy.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2023, v. 24, n. 3/4, p. 256, doi. 10.1080/21678421.2022.2136993

By:

Oliver, David;
Baker, Idris;
Borasio, Gian Domenico;
Cras, Patrick;
Faull, Christina;
Hepgul, Nilay;
Lorenzl, Stefan;
Stockdale, Claire;
de Visser, Marianne;
Vanopdenbosch, Ludo;
Voltz, Raymond;
Veronese, Simone

Publication type:

Article

A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2015, v. 16, n. 5/6, p. 410, doi. 10.3109/21678421.2015.1066821

By:

Beeldman, Emma;
van der Kooi, Anneke J.;
de Visser, Marianne;
van Maarle, Merel C.;
van Ruissen, Fred;
Baas, Frank

Publication type:

Article

The verbal fluency index: Dutch normative data for cognitive testing in ALS.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014, v. 15, n. 5/6, p. 388, doi. 10.3109/21678421.2014.906620

By:

Beeldman, Emma;
Jaeger, Bregje;
Raaphorst, Joost;
Seelen, Meinie;
Veldink, Jan;
van den Berg, Leonard;
de Visser, Marianne;
Schmand, Ben

Publication type:

Article

Parental age and the risk of amyotrophic lateral sclerosis.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, n. 3/4, p. 224, doi. 10.3109/21678421.2012.739176

By:

de Jong, Sonja W.;
Huisman, Mark H. B.;
Hennekam, Eric A. M.;
Sutedja, Nadia A.;
van der Kooi, Anneke J.;
de Visser, Marianne;
Schelhaas, H. Jurgen;
Fischer, Kathelijn;
Veldink, Jan H.;
van den Berg, Leonard H.

Publication type:

Article

Response to 'Exploring limits of neuropsychological screening in ALS: The FAB problem'.

Published in:

2013

By:

Raaphorst, Joost;
Beeldman, Emma;
Schmand, Ben;
Van Den Berg, Leonard H.;
De Visser, Marianne;
De Haan, Rob J.

Publication type:

Letter

Parental age and the risk of amyotrophic lateral sclerosis.

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, n. 3, p. 224, doi. 10.3109/21678421.2012.739176

By:

de Jong, Sonja W.;
Huisman, Mark H. B.;
Hennekam, Eric A. M.;
Sutedja, Nadia A.;
van der Kooi, Anneke J.;
de Visser, Marianne;
Schelhaas, H. Jurgen;
Fischer, Kathelijn;
Veldink, Jan H.;
van den Berg, Leonard H.

Publication type:

Article

Is the Frontal Assessment Battery reliable in ALS patients?

Published in:

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, n. 1, p. 73, doi. 10.3109/17482968.2012.712974

By:

Raaphorst, Joost;
Beeldman, Emma;
Jaeger, Bregje;
Schmand, Ben;
van den Berg, Leonard H.;
Weikamp, Janneke G.;
Schelhaas, H. Jurgen;
de Visser, Marianne;
de Haan, Rob J.

Publication type:

Article

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 8, p. 921, doi. 10.1038/ejhg.2008.39

By:

Trip, Jeroen;
Drost, Gea;
Verbove, Dennis J;
van der Kooi, Anneke J;
Kuks, Jan B M;
Notermans, Nicolette C;
Verschuuren, Jan J;
de Visser, Marianne;
van Engelen, Baziel G M;
Faber, Carin G;
Ginjaar, Ieke B

Publication type:

Article

Myotonic Dystrophy - The Facts.

Published in:

2003

By:

de Visser, Marianne

Publication type:

Book Review

SPECIAL ARTICLE Guidelines by the European Federation of Neurological Societies (EFNS) subcommittee for Continuing Medical Education (CME) – modification 2003 EFNS – approval of CME.

Published in:

European Journal of Neurology, 2004, v. 11, n. 3, p. 145, doi. 10.1111/j.1468-1331.2004.00790.x

By:

Vodusek, David B.;
Grisold, Wolfgang;
de Visser, Marianne;
Gilhus, Nils Erik;
Cavaletti, Guido

Publication type:

Article

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

Published in:

Nature Genetics, 2009, v. 41, n. 10, p. 1083, doi. 10.1038/ng.442

By:

van Es, Michael A.;
Veldink, Jan H.;
Saris, Christiaan G. J.;
Blauw, Hylke M.;
van Vught, Paul W. J.;
Birve, Anna;
Lemmens, Robin;
Schelhaas, Helenius J.;
Groen, Ewout J. N.;
Huisman, Mark H. B.;
van der Kooi, Anneke J.;
de Visser, Marianne;
Dahlberg, Caroline;
Estrada, Karol;
Rivadeneira, Fernando;
Hofman, Albert;
Zwarts, Machiel J.;
van Doormaal, Perry T. C.;
Rujescu, Dan;
Strengman, Eric

Publication type:

Article

Comparison of CMT1A and CMT2: similarities and differences.

Published in:

Journal of Neurology, 2006, v. 253, n. 12, p. 1572, doi. 10.1007/s00415-006-0260-6

By:

Bienfait, Henriette M. E.;
Verhamme, Camiel;
van Schaik, Ivo N.;
Koelman, Johannes H. T. M.;
Ongerboer de Visser, Bram W.;
de Haan, Rob J.;
Baas, Frank;
van Engelen, Baziel G. M.;
de Visser, Marianne

Publication type:

Article

Inclusion body myositis.

Published in:

Journal of Neurology, 2005, v. 252, n. 12, p. 1448, doi. 10.1007/s00415-005-0884-y

By:

Badrising, Umesh A.;
Maat-Schieman, Marion L. C.;
van Houwelingen, Johannes C.;
van Doorn, Pieter A.;
van Duinen, Sjoerd G.;
van Engelen, Baziel G. M.;
Faber, Carin G.;
Hoogendijk, Jessica E.;
de Jager, Aeiko E.;
Koehler, Peter J.;
de Visser, Marianne;
Verschuuren, Jan J. G. M.;
Wintzen, Axel R.

Publication type:

Article

Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations.

Published in:

Journal of the Peripheral Nervous System, 2017, v. 22, n. 4, p. 464, doi. 10.1111/jns.12236

By:

van Paassen, Barbara W.;
Bronk, Marieke;
Verhamme, Camiel;
van Ruissen, Fred;
Baas, Frank;
van Spaendonck‐Zwarts, Karin Y.;
de Visser, Marianne

Publication type:

Article

X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy.

Published in:

2011

By:

Engelen, Marc;
van der Kooi, Anneke J.;
Kemp, Stephan;
Wanders, Ronald J. A.;
Sistermans, Erik A.;
Waterham, Hans R.;
Koelman, Johannes T. M.;
van Geel, Björn M.;
de Visser, Marianne

Publication type:

Letter

The phenotype of the Gly94fsX222 PMP22 insertion.

Published in:

Journal of the Peripheral Nervous System, 2011, v. 16, n. 2, p. 113, doi. 10.1111/j.1529-8027.2011.00333.x

By:

de Vries, Sara D. J.;
Verhamme, Camiel;
van Ruissen, Fred;
van Paassen, Barbara W.;
Arts, Willem F.;
Kerkhoff, Henk;
van Engelen, Baziel G. M.;
Lammens, Martin;
de Visser, Marianne;
Baas, Frank;
van der Kooi, Anneke J.

Publication type:

Article

2016 American College of Rheumatology/European League Against Rheumatism Criteria for Minimal, Moderate, and Major Clinical Response in Adult Dermatomyositis and Polymyositis: An International Myositis Assessment and Clinical Studies Group/Paediatric Rheumatology International Trials Organisation Collaborative Initiative

Published in:

Arthritis & Rheumatology, 2017, v. 69, n. 5, p. 898, doi. 10.1002/art.40064

By:

Aggarwal, Rohit;
Rider, Lisa G.;
Ruperto, Nicolino;
Bayat, Nastaran;
Erman, Brian;
Feldman, Brian M.;
Oddis, Chester V.;
Amato, Anthony A.;
Chinoy, Hector;
Cooper, Robert G.;
Dastmalchi, Maryam;
Fiorentino, David;
Isenberg, David;
Katz, James D.;
Mammen, Andrew;
de Visser, Marianne;
Ytterberg, Steven R.;
Lundberg, Ingrid E.;
Chung, Lorinda;
Danko, Katalin

Publication type:

Article

A47: Progress Report on the Development of New Classification Criteria for Adult and Juvenile Idiopathic Inflammatory Myopathies.

Published in:

Arthritis & Rheumatology, 2014, v. 66, p. S70, doi. 10.1002/art.38463

By:

Pilkington, Clarissa;
Tjärnlund, Anna;
Bottai, Matteo;
Rider, Lisa G;
Werth, Victoria P;
Visser, Marianne de;
Alfredsson, Lars;
Amato, Anthony A;
Barohn, Richard J;
Liang, Matthew H;
Singh, Jasvinder A;
Miller, Frederick W;
Lundberg, Ingrid E.

Publication type:

Article

Editorial: Palliative Care in Neurology.

Published in:

2020

By:

Oliver, David;
de Visser, Marianne;
Voltz, Raymond

Publication type:

Editorial

The Role of Palliative Care in Chronic Progressive Neurological Diseases—A Survey Amongst Neurologists in the Netherlands.

Published in:

Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2018.01157

By:

Walter, Hannah A. W.;
Seeber, Antje A.;
Willems, Dick L.;
de Visser, Marianne

Publication type:

Article

Genetic Overlap between Apparently Sporadic Motor Neuron Diseases.

Published in:

PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0048983

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.

Publication type:

Article

Quadriceps muscle strength and voluntary activation after polio.

Published in:

Muscle & Nerve, 2003, v. 28, n. 2, p. 218, doi. 10.1002/mus.10428

By:

Anita Beelen;
Frans Nollet;
Marianne de Visser;
Bareld A. de Jong;
Gustaaf J. Lankhorst;
Anthony J. Sargeant

Publication type:

Article

Tonic pupils in Lambert-Eaton myasthenic syndrome.

Published in:

2001

By:

Wirtz, Paul W.;
de Keizer, Robert J.W.;
de Visser, Marianne;
Wintzen, Axel R.;
Verschuuren, Jan J.;
Wirtz, P W;
de Keizer, R J;
de Visser, M;
Wintzen, A R;
Verschuuren, J J

Publication type:

Case Study

Computed tomographic study of the skeletal musculature of the lower body in 45 postpolio patients.

Published in:

1998

By:

Ivanyi, Barbara;
Redekop, William;
de Jongh, Rob;
de Visser, Marianne;
Ivanyi, B;
Redekop, W;
de Jongh, R;
de Visser, M

Publication type:

journal article

Hereditary motor and sensory neuropathy type I: Clinical and neurographical features of the 17p duplication subtype.

Published in:

Muscle & Nerve, 1994, v. 17, n. 1, p. 85, doi. 10.1002/mus.880170112

By:

Hoogendijk, Jessica E.;
de Visser, Marianne;
Bolhuis, Pieter A.;
Hart, Augustinus A. M.;
de Visser, Bram W. Ongerboer

Publication type:

Article

The heart in becker muscular dystrophy, facioscapulohumeral dystrophy, and bethlem myopathy.

Published in:

Muscle & Nerve, 1992, v. 15, n. 5, p. 591, doi. 10.1002/mus.880150510

By:

de Visser, Marianne;
de Voogt, Willem G.;
la Rivière, Guusje V.

Publication type:

Article

Calf enlargement in hereditary motor and sensory neuropathy.

Published in:

Muscle & Nerve, 1990, v. 13, n. 1, p. 40, doi. 10.1002/mus.880130109

By:

de Visser, Marianne;
Hoogendijk, Jessica E.;
de Visser, Bram W. Ongerboer;
Verbeeten, Bernhard J.

Publication type:

Article

Computed tomography of the skeletal musculature in Becker-type muscular dystrophy and benign infantile spinal muscular atrophy.

Published in:

1985

By:

De Visser, Marianne;
Verbeeten, Bernard;
de Visser, M;
Verbeeten, B Jr

Publication type:

journal article

An unusual variant of Becker muscular dystrophy.

Published in:

Annals of Neurology, 1990, v. 27, n. 5, p. 578, doi. 10.1002/ana.410270521

By:

De Visser, Marianne;
Bakker, Egbert;
Defesche, Joep C.;
Bolhuis, Piet A.;
Van Ommen, Gert Jan

Publication type:

Article

High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 5, p. 748, doi. 10.1093/hmg/ddab250

By:

Lemmers, Richard J L F;
Vliet, Patrick J van der;
Granado, David San Leon;
van der Stoep, Nienke;
Buermans, Henk;
Schendel, Robin van;
Schimmel, Joost;
Visser, Marianne de;
Coster, Rudy van;
Jeanpierre, Marc;
Laforet, Pascal;
Upadhyaya, Meena;
Engelen, Baziel van;
Sacconi, Sabrina;
Tawil, Rabi;
Voermans, Nicol C;
Rogers, Mark;
Maarel, Silvère M van der

Publication type:

Article

Tubuloreticular Structures in Different Types of Myositis: Implications for Pathogenesis.

Published in:

Ultrastructural Pathology, 2008, v. 32, n. 4, p. 123, doi. 10.1080/01913120802209379

By:

Bronner, Irene M.;
Hoogendijk, Jessica E.;
Veldman, Henk;
Ramkema, Marja;
van den Bergh Weerman, Marius A.;
Rozemuller, Annemieke J. M.;
de Visser, Marianne

Publication type:

Article

Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.

Published in:

Clinical Genetics, 2019, v. 96, n. 2, p. 126, doi. 10.1111/cge.13544

By:

ten Dam, Leroy;
Frankhuizen, Wendy S.;
Linssen, Wim H.J.P.;
Straathof, Chiara S.;
Niks, Erik H.;
Faber, Karin;
Fock, Annemarie;
Kuks, Jan B.;
Brusse, Esther;
de Coo, René;
Voermans, Nicol;
Verrips, Aad;
Hoogendijk, Jessica E.;
van der Pol, Ludo;
Westra, Dineke;
de Visser, Marianne;
van der Kooi, Anneke J.;
Ginjaar, Ieke

Publication type:

Article

A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.

Published in:

2021

By:

Attarian, Shahram;
Young, Peter;
Brannagan, Thomas H.;
Adams, David;
Van Damme, Philip;
Thomas, Florian P.;
Casanovas, Carlos;
Tard, Céline;
Walter, Maggie C.;
Péréon, Yann;
Walk, David;
Stino, Amro;
de Visser, Marianne;
Verhamme, Camiel;
Amato, Anthony;
Carter, Gregory;
Magy, Laurent;
Statland, Jeffrey M.;
Felice, Kevin

Publication type:

journal article

Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3800, doi. 10.1093/brain/awad088

By:

Bruyn, Alexander de;
Montagnese, Federica;
Holm-Yildiz, Sonja;
Poulsen, Nanna Scharff;
Stojkovic, Tanya;
Behin, Anthony;
Palmio, Johanna;
Jokela, Manu;
Bleecker, Jan L De;
Visser, Marianne de;
Kooi, Anneke J van der;
Dam, Leroy ten;
González, Cristina Domínguez;
Maggi, Lorenzo;
Gallone, Annamaria;
Kostera-Pruszczyk, Anna;
Macias, Anna;
Łusakowska, Anna;
Nedkova, Velina;
Olive, Montse

Publication type:

Article

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

Published in:

2020

By:

Alonso-Pérez, Jorge;
González-Quereda, Lidia;
Bello, Luca;
Guglieri, Michela;
Straub, Volker;
Gallano, Pia;
Semplicini, Claudio;
Pegoraro, Elena;
Zangaro, Vittoria;
Nascimento, Andrés;
Ortez, Carlos;
Comi, Giacomo Pietro;
Dam, Leroy ten;
Visser, Marianne De;
Kooi, A J van der;
Garrido, Cristina;
Santos, Manuela;
Schara, Ulrike;
Gangfuß, Andrea;
Løkken, Nicoline

Publication type:

journal article

Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy.

Published in:

Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. e326, doi. 10.1093/brain/awu233

By:

Engelen, Marc;
Barbier, Mathieu;
Dijkstra, Inge M. E.;
Schür, Remmelt;
de Bie, Rob M.;
Verhamme, Camiel;
Dijkgraaf, Marcel G. W.;
Aubourg, Patrick A.;
Wanders, Ronald J. A.;
van Geel, Bjorn M.;
de Visser, Marianne;
Poll–The, Bwee T.;
Kemp, Stephan

Publication type:

Article

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.

Published in:

Brain: A Journal of Neurology, 2014, v. 137, n. 3, p. 693, doi. 10.1093/brain/awt361

By:

Engelen, Marc;
Barbier, Mathieu;
Dijkstra, Inge M. E.;
Schür, Remmelt;
de Bie, Rob M. A.;
Verhamme, Camiel;
Dijkgraaf, Marcel G. W.;
Aubourg, Patrick A.;
Wanders, Ronald J. A.;
van Geel, Bjorn M.;
de Visser, Marianne;
Poll–The, Bwee T.;
Kemp, Stephan

Publication type:

Article

Upper and extra-motoneuron involvement in early motoneuron disease: a diffusion tensor imaging study.

Published in:

Brain: A Journal of Neurology, 2011, v. 134, n. 4, p. 1211, doi. 10.1093/brain/awr016

By:

van der Graaff, Maaike M.;
Sage, Caroline A.;
Caan, Matthan W. A.;
Akkerman, Erik M.;
Lavini, Cristina;
Majoie, Charles B.;
Nederveen, Aart J.;
Zwinderman, Aeilko H.;
Vos, Frans;
Brugman, Frans;
van den Berg, Leonard H.;
de Rijk, Maarten C.;
van Doorn, Pieter A.;
Van Hecke, Wim;
Peeters, Ronald R.;
Robberecht, Wim;
Sunaert, Stefan;
de Visser, Marianne

Publication type:

Article

The natural history of Charcot-Marie-Tooth type 1A in adults: a 5-year follow-up study.

Published in:

2009

By:

Verhamme C;
van Schaik IN;
Koelman JH;
de Haan RJ;
de Visser M;
Verhamme, Camiel;
van Schaik, Ivo N;
Koelman, Johannes H T M;
de Haan, Rob J;
de Visser, Marianne

Publication type:

journal article

The natural history of Charcot–Marie-Tooth type 1A in adults: a 5-year follow-up study.

Published in:

Brain: A Journal of Neurology, 2009, v. 132, n. 12, p. 3252, doi. 10.1093/brain/awp251

By:

Verhamme, Camiel;
Van Schaik, Ivo N.;
Koelman, Johannes H. T. M.;
De Haan, Rob J.;
De Visser, Marianne

Publication type:

Article

Alternatively sized duplication in Charcot — Marie — Tooth disease type 1A.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2143

By:

Valentijn, Linda J.;
Baas, Frank;
Zorn, Ina;
Hensels, Gerard W.;
de Visser, Marianne;
Bolhuls, Peter A.

Publication type:

Article

Long-Term Air Pollution Exposure and Amyotrophic Lateral Sclerosis in Netherlands: A Population-based Case-control Study.

Published in:

Environmental Health Perspectives, 2017, v. 125, n. 9, p. 1, doi. 10.1289/EHP1115

By:

Seelen, Meinie;
Campos, Rosario A. Toro;
Veldink, Jan H.;
Visser, Anne E.;
Hoek, Gerard;
Brunekreef, Bert;
Kooi, Anneke J. van der;
Visser, Marianne de;
Raaphorst, Joost;
Berg, Leonard H. van den;
Vermeulen, Roel C.H.

Publication type:

Article

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-38

By:

van Paassen, Barbara W.;
van der Kooi, Anneke J.;
van Spaendonck-Zwarts, Karin Y.;
Verhamme, Camiel;
Baas, Frank;
de Visser, Marianne

Publication type:

Article

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.

Published in:

2014

By:

van Paassen, Barbara W;
van der Kooi, Anneke J;
van Spaendonck-Zwarts, Karin Y;
Verhamme, Camiel;
Baas, Frank;
de Visser, Marianne

Publication type:

journal article

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.

Published in:

2012

By:

Engelen, Marc;
Kemp, Stephan;
de Visser, Marianne;
van Geel, Björn M;
Wanders, Ronald Ja;
Aubourg, Patrick;
Poll-The, Bwee Tien;
Wanders, Ronald J A

Publication type:

journal article