Works matching AU de Visser, Marianne

Results: 99

The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03742-z

By:

Mancuso, Michelangelo;
Colitta, Alessandro;
Lavorato, Manuela;
Van den Bergh, Peter;
Kirschner, Janbernd;
Kornblum, Cornelia;
Maggi, Lorenzo;
Lamy, Francois;
Lochmüller, Hanns;
Nordstrøm, Marianne;
Malfatti, Edoardo;
Ferlini, Alessandra;
Pareyson, Davide;
Silani, Vincenzo;
Kleopa, Kleopas A;
de Visser, Marianne;
Atalaia, Antonio;
Evangelista, Teresinha

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

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.

Published in:

Nucleic Acids Research, 2000, v. 28, n. 20, p. e89, doi. 10.1093/nar/28.20.e89

By:

van den Bosch, Bianca J. C.;
de Coo, René F. M.;
Scholte, Hans R.;
Nijland, Jeroen G.;
van den Bogaard, Ruud;
de Visser, Marianne;
de Die-Smulders, Christine E. M.;
Smeets, Hubert J. M.

Publication type:

Article

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

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.

Published in:

Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00400

By:

Theunissen, Tom E. J.;
Nguyen, Minh;
Kamps, Rick;
Hendrickx, Alexandra T.;
Sallevelt, Suzanne C. E. H.;
Gottschalk, Ralph W. H.;
Calis, Chantal M.;
Stassen, Alphons P. M.;
de Koning, Bart;
Mulder-Den Hartog, Elvira N. M.;
Schoonderwoerd, Kees;
Fuchs, Sabine A.;
Hilhorst-Hofstee, Yvonne;
de Visser, Marianne;
Vanoevelen, Jo;
Szklarczyk, Radek;
Gerards, Mike;
de Coo, Irenaeus F. M.;
Hellebrekers, Debby M. E. I.;
Smeets, Hubert J. M.

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

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

Published in:

2024

By:

Attarian, Shahram;
Young, Peter;
Brannagan, Thomas H.;
Adams, David;
Van Damme, Philip;
Thomas, Florian P.;
Casanovas, Carlos;
Kafaie, Jafar;
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:

Correction Notice

Randomized sequential trial of valproic acid in amyotrophic lateral sclerosis.

Published in:

Annals of Neurology, 2009, v. 66, n. 2, p. 227, doi. 10.1002/ana.21620

By:

Piepers, Sanne;
Veldink, Jan H.;
De Jong, Sonja W.;
Van Der Tweel, Ingeborg;
Van Der Pol, W-Ludo;
Uijtendaal, Esther V.;
Schelhaas, H. Jurgen;
Scheffer, Hans;
De Visser, Marianne;
De Jong, J. M. B. Vianney;
Wokke, John H. J.;
Groeneveld, Geert Jan;
Van Den Berg, Leonard H.

Publication type:

Article

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.

Published in:

Annals of Neurology, 2006, v. 59, n. 2, p. 276

By:

Stephan Züchner;
Peter De Jonghe;
Albena Jordanova;
Kristl G. Claeys;
Velina Guergueltcheva;
Sylvia Cherninkova;
Steven R. Hamilton;
Greg Van Stavern;
Karen M. Krajewski;
Jeffery Stajich;
Ivajlo Tournev;
Kristien Verhoeven;
Christine T. Langerhorst;
Marianne de Visser;
Frank Baas;
Thomas Bird;
Vincent Timmerman;
Michael Shy;
Jeffery M. Vance

Publication type:

Article

Early onset neuropathy in a compound form of Charcot–Marie–Tooth disease.

Published in:

Annals of Neurology, 2005, v. 57, n. 4, p. 589

By:

Farid Meggouh;
Marianne de Visser;
Willem F. M. Arts;
Rene I. F. M. De Coo;
Ivo N. van Schaik;
Frank Baas

Publication type:

Article

A randomized sequential trial of creatine in amyotrophic lateral sclerosis.

Published in:

Annals of Neurology, 2003, v. 53, n. 4, p. 437

By:

Geert Jan Groeneveld;
Jan H. Veldink;
Ingeborg van der Tweel;
Sandra Kalmijn;
Cornelis Beijer;
Marianne de Visser;
John H. J. Wokke;
Hessel Franssen;
Leonard H. van den Berg

Publication type:

Article

Comparison of weakness progression in inclusion body myositis during treatment with methotrexate or placebo.

Published in:

2002

By:

Badrising, Umesh A.;
Maat-Schieman, Marion L.C.;
Ferrari, Michel D.;
Zwinderman, Aeilko H.;
Wessels, Judith A.M.;
Breedveld, Ferdinand C.;
van Doorn, Pieter A.;
van Engelen, Baziel G.M.;
Hoogendijk, Jessica E.;
Höweler, Chris J.;
de Jager, Aeiko E.;
Jennekens, Frans G.I.;
Koehler, Peter J.;
de Visser, Marianne;
Viddeleer, Alain;
Verschuuren, Jan J.;
Wintzen, Axel R.;
Höweler, Chris J

Publication type:

journal article

Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies.

Published in:

Annals of Neurology, 1996, v. 40, n. 4, p. 672, doi. 10.1002/ana.410400418

By:

Meijerink, Peter H. S.;
Zorn, Ina;
Baas, Frank;
de Visser, Marianne;
Bolhuis, Pieter A.;
Hoogendijk, Jessica E.;
Veldman, Henk;
Gabreëls-Festen, Anneke A. W. M.

Publication type:

Article

The postpolio syndrome: No evidence for poliovirus persistence.

Published in:

Annals of Neurology, 1992, v. 32, n. 6, p. 728, doi. 10.1002/ana.410320605

By:

Melchers, Willem;
de Visser, Marianne;
Jongen, Peter;
Van Loon, Anton;
Nibbeling, Ria;
Oostvogel, Paul;
Willemse, Diana;
Galama, Jochem

Publication type:

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

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

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

Advanced Care Planning in Parkinson's Disease: In-depth Interviews With Patients on Experiences and Needs.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.683094

By:

Kurpershoek, Elisabeth;
Hillen, Marij A.;
Medendorp, Niki M.;
de Bie, Rob M. A.;
de Visser, Marianne;
Dijk, Joke M.

Publication type:

Article

Computed tomographic findings in manifesting carriers of Duchenne muscular dystrophy.

Published in:

Clinical Genetics, 1985, v. 27, n. 3, p. 269, doi. 10.1111/j.1399-0004.1985.tb00219.x

By:

Visser, Marianne de;
Verbeeten, Bernard

Publication type:

Article

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

Meta-analysis of clinical characteristics of 299 carriers ofLMNAgene mutations: do lamin A/C mutations portend a high risk of sudden death?

Published in:

Journal of Molecular Medicine, 2005, v. 83, n. 1, p. 79, doi. 10.1007/s00109-004-0589-1

By:

van Berlo, Jop H.;
de Voogt, Willem G.;
van der Kooi, Anneke J.;
van Tintelen, J. Peter;
Bonne, Gisèle;
Yaou, Rabah Ben;
Duboc, Denis;
Rossenbacker, Tom;
Heidbüchel, Hein;
de Visser, Marianne;
Crijns, Harry J. G. M.;
Pinto, Yigal M.

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

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

Late-onset myopathies: clinical features and diagnosis.

Published in:

Acta Myologica, 2020, v. 39, n. 4, p. 235, doi. 10.36185/2532-1900-027

By:

de Visser, Marianne

Publication type:

Article

OMERACT 2018 Modified Patient-reported Outcome Domain Core Set in the Life Impact Area for Adult Idiopathic Inflammatory Myopathies.

Published in:

2019

By:

Regardt, Malin;
Mecoli, Christopher A.;
Jin Kyun Park;
de Groot, Ingrid;
Sarver, Catherine;
Needham, Merrilee;
de Visser, Marianne;
Shea, Beverly;
Bingham III, Clifton O.;
Lundberg, Ingrid E.;
Yeong W. Song;
Christopher-Stine, Lisa;
Alexanderson, Helene;
Park, Jin Kyun;
Bingham, Clifton O 3rd;
Song, Yeong W

Publication type:

journal article

Perceptions of Patients, Caregivers, and Healthcare Providers of Idiopathic Inflammatory Myopathies: An International OMERACT Study.

Published in:

2019

By:

Mecoli, Christopher A.;
Jin Kyun Park;
Alexanderson, Helene;
Regardt, Malin;
Needham, Merrilee;
de Groot, Ingrid;
Sarver, Catherine;
Lundberg, Ingrid E.;
Shea, Beverley;
de Visser, Marianne;
Yeong Wook Song;
Bingham, Clifton O.;
Christopher-Stine, Lisa;
Park, Jin Kyun;
Song, Yeong Wook;
Bingham, Clifton O 3rd

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

In memoriam: Prof. Dr. John H. J. Wokke (1952–2022).

Published in:

2022

By:

Notermans, Nicolette;
Verschuuren, Jan;
de Visser, Marianne

Publication type:

Obituary

Screening for cognition in amyotrophic lateral sclerosis: test characteristics of a new screen.

Published in:

Journal of Neurology, 2021, v. 268, n. 7, p. 2533, doi. 10.1007/s00415-021-10423-x

By:

Beeldman, Emma;
Govaarts, Rosanne;
de Visser, Marianne;
van Es, Michael A.;
Pijnenburg, Yolande A. L.;
Schmand, Ben A.;
Raaphorst, Joost

Publication type:

Article

Hypertension risk in idiopathic hyperCKemia.

Published in:

Journal of Neurology, 2008, v. 255, n. 1, p. 11, doi. 10.1007/s00415-008-0651-y

By:

Brewster, Lizzy M.;
van Bree, Sjoerd;
Reijneveld, Jaap C.;
Notermans, Nicolette C.;
Verschuren, W. M. Monique;
Clark, Joseph F.;
van Montfrans, Gert A.;
de Visser, Marianne

Publication type:

Article

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

No Reduction of Severe Fatigue in Patients With Postpolio Syndrome by Exercise Therapy or Cognitive Behavioral Therapy.

Published in:

Neurorehabilitation & Neural Repair, 2016, v. 30, n. 5, p. 402, doi. 10.1177/1545968315600271

By:

Koopman, Fieke S.;
Voorn, Eric L.;
Beelen, Anita;
Bleijenberg, Gijs;
de Visser, Marianne;
Brehm, Merel A.;
Nollet, Frans

Publication type:

Article