Nicol C. Voermans : rechercher sur Z-Library

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1

Neuromuscular properties of the thigh muscles in patients with ehlers-danlos syndrome

Gerrits, Karin H.L., Voermans, Nicol C., de Haan, Arnold, van Engelen, Baziel G.

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 282 KB

english, 2013

2

Fatigue Is a Frequent and Clinically Relevant Problem in Ehlers-Danlos Syndrome

Nicol C. Voermans, Hans Knoop, Nicole van de Kamp, Ben C. Hamel, Gijs Bleijenberg, Baziel G. van Engelen

Journal:

Seminars in Arthritis and Rheumatism

Année:

2010

Langue:

english

Fichier:

PDF, 229 KB

english, 2010

3

Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy

Lassche, Saskia, Voermans, Nicol C., van der Pijl, Robbert, van den Berg, Marloes, Heerschap, Arend, van Hees, Hieronymus, Kusters, Benno, van der Maarel, Silvère M., Ottenheijm, Coen A.C., van Engele

Journal:

Année:

2020

Langue:

english

Fichier:

PDF, 690 KB

english, 2020

4

High Frequency of Neuropathic Pain in Ehlers-Danlos Syndrome: An Association with Axonal Polyneuropathy and Compression Neuropathy?

Nicol C. Voermans, Hans Knoop, Baziel G. van Engelen

Journal:

Journal of Pain and Symptom Management

Année:

2011

Langue:

english

Fichier:

PDF, 51 KB

english, 2011

5

Neurological manifestations of Ehlers-Danlos syndrome(s): A review.

Castori, Marco, Voermans, Nicol C

Journal:

Iranian journal of neurology

Année:

2014

Langue:

english

Fichier:

PDF, 811 KB

english, 2014

6

Neuromuscular involvement in various types of Ehlers–Danlos syndrome

Nicol C. Voermans, Nens van Alfen, Sigrid Pillen, Martin Lammens, Joost Schalkwijk, Machiel J. Zwarts, Iris A. van Rooij, Ben C. J. Hamel, Baziel G. van Engelen

Journal:

Annals of Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 243 KB

english, 2009

7

Pain in Ehlers-Danlos Syndrome Is Common, Severe, and Associated with Functional Impairment

Nicol C. Voermans, Hans Knoop, Gijs Bleijenberg, Baziel G. van Engelen

Journal:

Journal of Pain and Symptom Management

Année:

2010

Langue:

english

Fichier:

PDF, 310 KB

english, 2010

8

Fascia: The Tensional Network of the Human Body || Fascia-related disorders

Voermans, Nicol C

Année:

2012

Langue:

english

Fichier:

PDF, 357 KB

english, 2012

9

Both pain and fatigue are important possible determinants of disability in patients with the Ehlers-Danlos syndrome hypermobility type

Voermans, Nicol C., Knoop, Hans

Journal:

Disability & Rehabilitation

Année:

2011

Langue:

english

Fichier:

PDF, 58 KB

english, 2011

10

Exertional hyperckemia might be the first manifestation of a genetic disorder

Voermans, Nicol C., Jungbluth, Heinz, Brusse, Esther, van Engelen, Baziel G., Lafôret, Pascal

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 47 KB

english, 2013

11

Prior medical conditions and the risk of amyotrophic lateral sclerosis

Seelen, Meinie, van Doormaal, Perry T. C., Visser, Anne E., Huisman, Mark H. B., Roozekrans, Margot H. J., de Jong, Sonja W., van der Kooi, Anneke J., de Visser, Marianne, Voermans, Nicol C., Veldink,

Journal:

Journal of Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 240 KB

english, 2014

12

Well-defined clinical presentation of Ehlers–Danlos syndrome in patients with tenascin-X deficiency

Hendriks, Anke G.M., Voermans, Nicol C., Schalkwijk, Joost, Hamel, Ben C., van Rossum, Michelle M.

Journal:

Clinical Dysmorphology

Année:

2012

Langue:

english

Fichier:

PDF, 158 KB

english, 2012

13

Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives

Treves, Susan, Jungbluth, Heinz, Voermans, Nicol, Muntoni, Francesco, Zorzato, Francesco

Journal:

Seminars in Cell & Developmental Biology

Année:

2016

Langue:

english

Fichier:

PDF, 2.08 MB

english, 2016

14

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

Scalco, Renata S, Snoeck, Marc, Quinlivan, Ros, Treves, Susan, Laforét, Pascal, Jungbluth, Heinz, Voermans, Nicol C

Journal:

BMJ Open Sport & Exercise Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 1.36 MB

english, 2016

15

Skeletal muscle morphology, protein synthesis and gene expression in Ehlers Danlos Syndrome

Nygaard, Rie H., Jensen, Jacob K., Voermans, Nicol C., Heinemeier, Katja Maria, Schjerling, Peter, Holm, Lars, Agergaard, Jakob, Mackey, Abigail Louise, Andersen, Jesper Løvind, Remvig, Lars, Kjaer, M

Journal:

Journal of Applied Physiology

Année:

2017

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2017

16

Adding quantitative muscle MRI to the FSHD clinical trial toolbox

Mul, Karlien, Vincenten, Sanne C.C., Voermans, Nicol C., Lemmers, Richard J.L.F., van der Vliet, Patrick J., van der Maarel, Silvère M., Padberg, George W., Horlings, Corinne G.C., van Engelen, Baziel

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 691 KB

english, 2017

17

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency

Abu Bakar, Nurulamin, Voermans, Nicol C., Marquardt, Thorsten, Thiel, Christian, Janssen, Mirian C.H., Hansikova, Hana, Crushell, Ellen, Sykut-Cegielska, Jolanta, Bowling, Francis, Mørkrid, Lars, Viss

Journal:

Translational Research

Année:

2018

Langue:

english

Fichier:

PDF, 1.14 MB

english, 2018

18

Reduced specific force in patients with mild and severe facioscapulohumeral muscular dystrophy

Lassche, Saskia, Voermans, Nicol C, Schreuder, Tim, Heerschap, Arend, KÃ¼sters, Benno, Ottenheijm, Coen AC, Hopman, Maria TE, Engelen, Baziel GM

Journal:

Année:

2020

Fichier:

PDF, 1.13 MB

2020

19

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

Scalco, Renata S., Lucia, Alejandro, Santalla, Alfredo, Martinuzzi, Andrea, Vavla, Marinela, Reni, Gianluigi, Toscano, Antonio, Musumeci, Olimpia, Voermans, Nicol C., Kouwenberg, Carlyn V., LaforÃªt,

Journal:

Orphanet Journal of Rare Diseases

Année:

2020

Fichier:

PDF, 1.15 MB

2020

20

Reply

Nicol Voermans, Baziel van Engelen

Journal:

Annals of Neurology

Année:

2010

Langue:

english

Fichier:

PDF, 99 KB

english, 2010

21

Computer-aided visualization of muscle weakness distribution

Allan J. Pieterse, Nicol C. Voermans, Hans S. Tuinenga, Baziel G. M. van Engelen

Journal:

Journal of Neurology

Année:

2008

Langue:

english

Fichier:

PDF, 602 KB

english, 2008

22

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

Nicol C. Voermans, Tjitske Kleefstra, Anneke A. Gabreëls-Festen, Brigitte H. W. Faas, Erik-Jan Kamsteeg, Henry Houlden, Matilde Laurá, James M. Polke, Amelie Pandraud, Fred van Ruissen, Baziel G. van

Journal:

Journal of the Peripheral Nervous System

Année:

2012

Langue:

english

Fichier:

PDF, 462 KB

english, 2012

23

Peritonitis, moderate ascites and hepatitis due to infection with Chlamydia trachomatis and Epstein-Barr virus in a young woman. Diagnosis by polymerase chain reaction from peritoneal tissue

Nicole E. van der Laan, Bert J. Voerman, Cees Rustemeijer, Koos J.M. van der Hoeven

Journal:

The Netherlands Journal of Medicine

Année:

1995

Langue:

english

Fichier:

PDF, 294 KB

english, 1995

24

Rhabdomyolysis Caused by an Inherited Metabolic Disease: Very Long-chain Acyl-CoA Dehydrogenase Deficiency

Nicol C. Voermans, Baziel G. van Engelen, Leo A. Kluijtmans, Nike M. Stikkelbroeck, Ad R. Hermus

Journal:

The American Journal of Medicine

Année:

2006

Langue:

english

Fichier:

PDF, 150 KB

english, 2006

25

Caffeine and Muscle Cramps: A Stimulating Connection

Martijn M. Molema, Marieke C. Dekker, Nicol C. Voermans, Baziel G. van Engelen, Rob E. Aarnoutse

Journal:

The American Journal of Medicine

Année:

2007

Langue:

english

Fichier:

PDF, 66 KB

english, 2007

26

Interaction between the Human Hippocampus and the Caudate Nucleus during Route Recognition

Nicol C. Voermans, Karl Magnus Petersson, Leonie Daudey, Bernd Weber, Karel P. van Spaendonck, Hubertus P.H. Kremer, Guillén Fernández

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 205 KB

english, 2004

27

Pediatric Median Neuropathy Due to Pruritus in Alagille Syndrome

Nicol C. Voermans, Nens van Alfen, Jules J.M. Tolboom, Alfred C. Koetsveld, Lilian T.L. Sie

Journal:

Pediatric Neurology

Année:

2006

Langue:

english

Fichier:

PDF, 97 KB

english, 2006

28

Secondary Parkinsonism in Childhood: A Rare Complication After Radiotherapy

Nicol C. Voermans, Bastiaan R. Bloem, Geert Janssens, Wouter V. Vogel, Lilian T.L. Sie

Journal:

Pediatric Neurology

Année:

2006

Langue:

english

Fichier:

PDF, 157 KB

english, 2006

29

Quantification of trunk rotations during turning and walking in Parkinson’s disease

Jasper E. Visser, Nicol C. Voermans, Lars B. Oude Nijhuis, Martijn van der Eijk, Renate Nijk, Marten Munneke, Bastiaan R. Bloem

Journal:

Clinical Neurophysiology

Année:

2007

Langue:

english

Fichier:

PDF, 177 KB

english, 2007

30

Age differences in neural correlates of route encoding and route recognition

Olga Meulenbroek, Karl Magnus Petersson, Nicol Voermans, Bernd Weber, Guillén Fernández

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 1.06 MB

english, 2004

31

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Sissel Løseth, Nicol C. Voermans, Torberg Torbergsen, Sue Lillis…

Journal:

Journal of Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 459 KB

english, 2013

32

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers

Guglielmi, Valeria, Vattemi, Gaetano, Gualandi, Francesca, Voermans, Nicol C., Marini, Matteo, Scotton, Chiara, Pegoraro, Elena, Oosterhof, Arie, Kósa, Magdolna, Zádor, Ernő, Valente, Enza Maria, De G

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 1.12 MB

english, 2013

33

Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol

Lassche, Saskia, Ottenheijm, Coen AC, Voermans, Nicol C, Westeneng, Henk-Jan, Janssen, Barbara H, van der Maarel, Silvère M, Hopman, Maria T, Padberg, George W, Stienen, Ger JM, van Engelen, Baziel GM

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 209 KB

english, 2013

34

Compound heterozygous mutations of the TNXB gene cause primary myopathy

Voermans, Nicol C., Gerrits, Karin, van Engelen, Baziel G., de Haan, Arnold

Journal:

Neuromuscular Disorders

Année:

2014

Langue:

english

Fichier:

PDF, 194 KB

english, 2014

35

No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy

Seelen, Meinie, Visser, Anne E., Overste, Daniel J., Kim, Hong J., Palud, A., Wong, Tsz H., van Swieten, John C., Scheltens, Philip, Voermans, Nicol C., Baas, Frank, de Jong, J.M.B.V., van der Kooi, A

Journal:

Neurobiology of Aging

Année:

2014

Langue:

english

Fichier:

PDF, 177 KB

english, 2014

36

Facioscapulohumeral muscular dystrophy as a genetic cause of pectus excavatum

Mul, Karlien, Padberg, George W., Voermans, Nicol C.

Journal:

European Journal of Medical Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 288 KB

english, 2015

37

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

van den Boogaard, Marlinde L, JFL Lemmers, Richard, Camaño, Pilar, van der Vliet, Patrick J, Voermans, Nicol, van Engelen, Baziel GM, de Munain, Adolfo L, Tapscott, Stephen J, van der Stoep, Nienke, T

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 716 KB

english, 2015

38

Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition

Schirris, Tom J.J., Renkema, G. Herma, Ritschel, Tina, Voermans, Nicol C., Bilos, Albert, van Engelen, Baziel G.M., Brandt, Ulrich, Koopman, Werner J.H., Beyrath, Julien D., Rodenburg, Richard J., Wil

Journal:

Cell Metabolism

Année:

2015

Langue:

english

Fichier:

PDF, 1.78 MB

english, 2015

39

Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples

Straathof, Chiara S.M., Van Heusden, Dave, Ippel, Pieternella F., Post, Jan G., Voermans, Nicol C., De Visser, Marianne, Brusse, Esther, Van Den Bergen, Janneke C., Van Der Kooi, Anneke J., Verschuure

Journal:

Année:

2015

Fichier:

PDF, 149 KB

2015

40

Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples

Straathof, Chiara S.M., Van Heusden, Dave, Ippel, Pieternella F., Post, Jan G., Voermans, Nicol C., De Visser, Marianne, Brusse, Esther, Van Den Bergen, Janneke C., Van Der Kooi, Anneke J., Verschuure

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 149 KB

english, 2015

41

Epigenetic changes as a common trigger of muscle weakness in congenital myopathies

Rokach, Ori, Sekulic-Jablanovic, Marijana, Voermans, Nicol, Wilmshurst, Jo, Pillay, Komala, Heytens, Luc, Zhou, Haiyan, Muntoni, Francesco, Gautel, Mathias, Nevo, Yoram, Mitrani-Rosenbaum, Stella, Att

Journal:

Human Molecular Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 966 KB

english, 2015

42

Safety of the Posterior Approach to the Brachial Plexus

Voermans, Nicol C., Crul, Ben J., van Engelen, Baziel G.

Journal:

Anesthesia & Analgesia

Année:

2006

Langue:

english

Fichier:

PDF, 1.20 MB

english, 2006

43

The Dutch patients' perspective on oculopharyngeal muscular dystrophy: A questionnaire study on fatigue, pain and impairments

van der Sluijs, Barbara M., Knoop, Hans, Bleijenberg, Gijs, van Engelen, Baziel G.M., Voermans, Nicol C.

Journal:

Neuromuscular Disorders

Année:

2016

Langue:

english

Fichier:

PDF, 406 KB

english, 2016

44

Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability

Donkervoort, Sandra, Hu, Ying, Stojkovic, Tanya, Voermans, Nicol C., Foley, A. Reghan, Leach, Meganne E., Dastgir, Jahannaz, Bolduc, Véronique, Cullup, Thomas, de Becdelièvre, Alix, Yang, Lin, Su, Hai

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 3.07 MB

english, 2015

45

Permanent Loss of Cervical Spinal Cord Function Associated with the Posterior Approach

Voermans, Nicol C., Crul, Ben J., de Bondt, BertJan, Zwarts, Machiel J., van Engelen, Baziel G. M.

Journal:

Anesthesia & Analgesia

Année:

2006

Langue:

english

Fichier:

PDF, 606 KB

english, 2006

46

Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD)

Goselink, Rianne J. M., Schreuder, Tim H. A., Mul, Karlien, Voermans, Nicol C., Pelsma, Maaike, de Groot, Imelda J. M., van Alfen, Nens, Franck, Bas, Theelen, Thomas, Lemmers, Richard J., Mah, Jean K.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 609 KB

english, 2016

47

A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype

Bednarz, Marcin, Stunnenberg, Bas C., Kusters, Benno, Kamsteeg, Erik-Jan, Saris, Christiaan G., Groome, James, Winston, Vern, Meola, Giovanni, Jurkat-Rott, Karin, Voermans, Nicol C.

Journal:

Neuromuscular Disorders

Année:

2016

Langue:

english

Fichier:

PDF, 885 KB

english, 2016

48

The diagnostic value of hyperammonaemia induced by the non-ischaemic forearm exercise test

Hogrel, Jean-Yves, Janssen, Jorien B E, Ledoux, Isabelle, Ollivier, Gwenn, Béhin, Anthony, Stojkovic, Tanya, Eymard, Bruno, Voermans, Nicol C, Laforet, Pascal

Journal:

Journal of Clinical Pathology

Année:

2017

Langue:

english

Fichier:

PDF, 201 KB

english, 2017

49

Congenital myopathies

Jungbluth, Heinz, Voermans, Nicol C.

Journal:

Current Opinion in Neurology

Année:

2016

Langue:

english

Fichier:

PDF, 519 KB

english, 2016

50

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

Biancalana, Valérie, Scheidecker, Sophie, Miguet, Marguerite, Laquerrière, Annie, Romero, Norma B., Stojkovic, Tanya, Abath Neto, Osorio, Mercier, Sandra, Voermans, Nicol, Tanner, Laura, Rogers, Curti

Journal:

Acta Neuropathologica

Année:

2017

Langue:

english

Fichier:

PDF, 2.49 MB

english, 2017