Anneke J van der Kooi : rechercher sur Z-Library

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1

Seronegative patients form a distinctive subgroup of immune-mediated necrotizing myopathy

Lim, Johan, Rietveld, Anke, De Bleecker, Jan L., Badrising, Umesh A., Saris, Christiaan G.J., van der Kooi, Anneke J., de Visser, Marianne

Journal:

Neurology: Neuroimmunology & Neuroinflammation

Année:

2019

Langue:

english

Fichier:

PDF, 216 KB

english, 2019

2

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy

Mike Gerards, Bianca van den Bosch, Chantal Calis, Kees Schoonderwoerd, Klaartje van Engelen, Marina Tijssen, René de Coo, Anneke van der Kooi, Hubert Smeets

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 564 KB

english, 2010

3

Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

Juna M de Vries, Nadine AME van der Beek, Wim CJ Hop, Francois PJ Karstens, John H Wokke, Marianne de Visser, Baziel GM van Engelen, Jan BM Kuks, Anneke J van der Kooi, Nicolette C Notermans, Catharin

Journal:

Orphanet Journal of Rare Diseases

Année:

2012

Langue:

english

Fichier:

PDF, 314 KB

english, 2012

4

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

Nadine AME van der Beek, Juna M de Vries, Marloes LC Hagemans, Wim CJ Hop, Marian A Kroos, John HJ Wokke, Marianne de Visser, Baziel GM van Engelen, Jan BM Kuks, Anneke J van der Kooi, Nicolette C Not

Journal:

Orphanet Journal of Rare Diseases

Année:

2012

Langue:

english

Fichier:

PDF, 584 KB

english, 2012

5

Endogenous female reproductive hormones and the risk of amyotrophic lateral sclerosis

Sonja de Jong, Mark Huisman, Nadia Sutedja, Anneke van der Kooi…

Journal:

Journal of Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 200 KB

english, 2013

6

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

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

Journal:

Orphanet Journal of Rare Diseases

Année:

2014

Langue:

english

Fichier:

PDF, 777 KB

english, 2014

7

Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers

van Rijsingen, Ingrid A.W., Nannenberg, Eline A., Arbustini, Eloisa, Elliott, Perry M., Mogensen, Jens, Hermans-van Ast, Johanna F., van der Kooi, Anneke J., van Tintelen, J. Peter, van den Berg, Maar

Journal:

European Journal of Heart Failure

Année:

2013

Langue:

english

Fichier:

PDF, 511 KB

english, 2013

8

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

9

Cardiac involvement in Dutch patients with sarcoglycanopathy: A cross-sectional cohort and follow-up study

Schade van Westrum, Steven M., Dekker, Lukas R.C., de Voogt, Willem G., Wilde, Arthur A.M., Ginjaar, Ieke B., de Visser, Marianne, van der Kooi, Anneke J.

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 79 KB

english, 2014

10

Intravenous immunoglobulins in patients with clinically suspected chronic immune-mediated neuropathy

Lucke, Ilse M., Adrichem, Max E., Wieske, Luuk, van der Kooi, Anneke J., Verhamme, Camiel, van Schaik, Ivo N., Eftimov, Filip

Journal:

Journal of the Neurological Sciences

Année:

2019

Langue:

english

Fichier:

PDF, 905 KB

english, 2019

11

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

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

Journal:

Journal of Molecular Medicine

Année:

2005

Langue:

english

Fichier:

PDF, 242 KB

english, 2005

12

Prednisone 10

Chiara S. M. Straathof, W. C. G.(Truus) Overweg-Plandsoen, Gert Jan van den Burg, Anneke J. van der Kooi, Jan J. G. M. Verschuuren, Imelda J. M. de Groot

Journal:

Journal of Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 246 KB

english, 2009

13

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

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

Journal:

Journal of the Peripheral Nervous System

Année:

2011

Langue:

english

Fichier:

PDF, 453 KB

english, 2011

14

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

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

Journal:

European Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 191 KB

english, 2008

15

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

Marka van Blitterswijk, Paul W.J. van Vught, Michael A. van Es, Helenius J. Schelhaas, Anneke J. van der Kooi, Marianne de Visser, Jan H. Veldink, Leonard H. van den Berg

Journal:

Neurobiology of Aging

Année:

2012

Langue:

english

Fichier:

PDF, 1.11 MB

english, 2012

16

UBQLN2 in familial amyotrophic lateral sclerosis in the Netherlands

Perry T.C. van Doormaal, Wouter van Rheenen, Marka van Blitterswijk, Raymond D. Schellevis, Helenius J. Schelhaas, Marianne de Visser, Anneke J. van der Kooi, Jan H. Veldink, Leonard H. van den Berg

Journal:

Neurobiology of Aging

Année:

2012

Langue:

english

Fichier:

PDF, 324 KB

english, 2012

17

VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

Marka van Blitterswijk, Michael A. van Es, Max Koppers, Wouter van Rheenen, Jelena Medic, Helenius J. Schelhaas, Anneke J. van der Kooi, Marianne de Visser, Jan H. Veldink, Leonard H. van den Berg

Journal:

Neurobiology of Aging

Année:

2012

Langue:

english

Fichier:

PDF, 382 KB

english, 2012

18

Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2

Alide A. Tieleman, Judith van Vliet, Jan B.M.J. Jansen, Anneke J. van der Kooi, George F. Borm, Baziel G.M. van Engelen

Journal:

Neuromuscular Disorders

Année:

2008

Langue:

english

Fichier:

PDF, 92 KB

english, 2008

19

Structural and molecular basis of skeletal muscle diseases: Structural and molecular basis of skeletal muscle diseases, G. Karpati (Ed.); ISN Neuropath Press, Basel, 2002, 312 pages, ISBN 3-9522313-0-4, US$ 85

Anneke J. van der Kooi

Journal:

Neuromuscular Disorders

Année:

2003

Langue:

english

Fichier:

PDF, 30 KB

english, 2003

20

A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies

Isabelle Richard, Nathalie Bourg, Sylvie Marchand, Olivier Alibert, Bruno Eymard, Anneke J van der Kooi, Charles E Jackson, Carlos Garcia, Jean-Marc Burgunder, Cyril Legum, Marianne de Visser, Michel

Journal:

Neuromuscular Disorders

Année:

1999

Langue:

english

Fichier:

PDF, 427 KB

english, 1999

21

Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients

Marka van Blitterswijk, Anna Blokhuis, Michael A. van Es, Paul W.J. van Vught, Paulina A. Rowicka, Helenius J. Schelhaas, Anneke J. van der Kooi, Marianne de Visser, Jan H. Veldink, Leonard H. van den

Journal:

Neurobiology of Aging

Année:

2012

Langue:

english

Fichier:

PDF, 337 KB

english, 2012

22

Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers: A European Cohort Study

Ingrid A.W. van Rijsingen, Eloisa Arbustini, Perry M. Elliott, Jens Mogensen, Johanna F. Hermans-van Ast, Anneke J. van der Kooi, J. Peter van Tintelen, Maarten P. van den Berg, Andrea Pilotto, Michel

Journal:

Journal of the American College of Cardiology

Année:

2012

Langue:

english

Fichier:

PDF, 646 KB

english, 2012

23

Living with muscular dystrophy: health related quality of life consequences for children and adults

Martha A Grootenhuis, Judith de Boone, Anneke J van der Kooi

Journal:

Health and Quality of Life Outcomes

Année:

2007

Langue:

english

Fichier:

PDF, 812 KB

english, 2007

24

Local Dystrophin Restoration with Antisense Oligonucleotide PRO051

van Deutekom, Judith C., Janson, Anneke A., Ginjaar, Ieke B., Frankhuizen, Wendy S., Aartsma-Rus, Annemieke, Bremmer-Bout, Mattie, den Dunnen, Johan T., Koop, Klaas, van der Kooi, Anneke J., Goemans,

Journal:

Boston Medical and Surgical Journal

Année:

2007

Langue:

english

Fichier:

PDF, 846 KB

english, 2007

25

Lamin A/C mutation is independently associated with an increased risk of arterial and venous thromboembolic complications

van Rijsingen, Ingrid A.W., Bakker, Annemieke, Azim, Donija, Hermans-van Ast, Johanna F., van der Kooi, Anneke J., van Tintelen, J. Peter, van den Berg, Maarten P., Christiaans, Imke, Lekanne dit Depr

Journal:

International Journal of Cardiology

Année:

2013

Langue:

english

Fichier:

PDF, 324 KB

english, 2013

26

ANO5 mutations in the Dutch limb girdle muscular dystrophy population

van der Kooi, Anneke J., ten Dam, Leroy, Frankhuizen, Wendy S., Straathof, Chiara S.M., van Doorn, Pieter A., de Visser, Marianne, Ginjaar, Ieke B.

Journal:

Neuromuscular Disorders

Année:

2013

Langue:

english

Fichier:

PDF, 335 KB

english, 2013

27

Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis

Van Es, Michael A., Van Vught, Paul W. J., Veldink, Jan H., Andersen, Peter M., Birve, Anna, Lemmens, Robin, Cronin, Simon, Van Der Kooi, Anneke J., De Visser, Marianne, Schelhaas, Helenius J., Hardim

Journal:

Amyotrophic Lateral Sclerosis

Année:

2009

Langue:

english

Fichier:

PDF, 412 KB

english, 2009

28

Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies

ten Dam, Leroy, van der Kooi, Anneke J., Rövekamp, Fleur, Linssen, Wim H.J.P., de Visser, Marianne

Journal:

Neuromuscular Disorders

Année:

2014

Langue:

english

Fichier:

PDF, 1.12 MB

english, 2014

29

Vocal Cord Dysfunction in Amyotrophic Lateral Sclerosis

van der Graaff, Maaike M., Grolman, Wilko, Westermann, Erik J., Boogaardt, Hans C., Koelman, Hans, van der Kooi, Anneke J., Tijssen, Marina A., de Visser, Marianne

Journal:

Archives of Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 215 KB

english, 2009

30

Cardiac Involvement in Bethlem Myopathy—Reply

van der Kooi, Anneke J., de Voogt, Willem G., de Visser, Marianne

Journal:

Archives of Neurology

Année:

2007

Langue:

english

Fichier:

PDF, 46 KB

english, 2007

31

Cardiac and Pulmonary Investigations in Bethlem Myopathy

van der Kooi, Anneke J., de Voogt, Willem G., Bertini, Enrico, Merlini, Luciano, Talim, F. Beril, Ben Yaou, Rabah, Urtziberea, Andoni, de Visser, Marianne

Journal:

Archives of Neurology

Année:

2006

Langue:

english

Fichier:

PDF, 85 KB

english, 2006

32

Parental age and the risk of amyotrophic lateral sclerosis

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,

Journal:

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Année:

2013

Langue:

english

Fichier:

PDF, 61 KB

english, 2013

33

Respiratory failure as presenting symptom of necrotizing autoimmune myopathy with anti-melanoma differentiation-associated gene 5 antibodies

Jaeger, Bregje, de Visser, Marianne, Aronica, Eleonora, van der Kooi, Anneke J.

Journal:

Neuromuscular Disorders

Année:

2015

Langue:

english

Fichier:

PDF, 1.47 MB

english, 2015

34

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

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.,

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 247 KB

english, 2015

35

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

36

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

37

Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers

Dekker, Annelot M., Seelen, Meinie, van Doormaal, Perry T.C., van Rheenen, Wouter, Bothof, Reinoud J.P., van Riessen, Tim, Brands, William J., van der Kooi, Anneke J., de Visser, Marianne, Voermans, N

Journal:

Neurobiology of Aging

Année:

2015

Langue:

english

Fichier:

PDF, 325 KB

english, 2015

38

The epidemiology of neuromuscular disorders: Age at onset and gender in the Netherlands

Deenen, Johanna C.W., van Doorn, Pieter A., Faber, Catharina G., van der Kooi, Anneke J., Kuks, Jan B.M., Notermans, Nicolette C., Visser, Leo H., Horlings, Corinne G.C., Verschuuren, Jan J.G.M., Verb

Journal:

Neuromuscular Disorders

Année:

2016

Langue:

english

Fichier:

PDF, 1.05 MB

english, 2016

39

Intraepidermal nerve fiber density in intensive care unit–acquired weakness—an observational pilot study

Wieske, Luuk, van der Kooi, Anneke J., Verhamme, Camiel, Witteveen, Esther, Bouwes, Aline, Schultz, Marcus J., van Schaik, Ivo N., Horn, Janneke

Journal:

Journal of Critical Care

Année:

2015

Langue:

english

Fichier:

PDF, 232 KB

english, 2015

40

Neurosarcoidosis in a Tertiary Referral Center

Leonhard, Sonja E., Fritz, Daan, Eftimov, Filip, van der Kooi, Anneke J., van de Beek, Diederik, Brouwer, Matthijs C.

Journal:

Medicine (Medicine Publishing Company Ltd)

Année:

2016

Langue:

english

Fichier:

PDF, 410 KB

english, 2016

41

A 43-Year-Old Female with Multifocal Cerebral Lesions

Nieuwenhuis, Marieke B.B., van der Salm, Sandra M.A., Verhoeff, Joost J.C., van der Kooi, Anneke J., Slavujecvic-Letic, Ivana, Pals, Steven T., Vos, Josephine M.I.

Journal:

Brain Pathology

Année:

2015

Langue:

english

Fichier:

PDF, 515 KB

english, 2015

42

The frontotemporal syndrome of ALS is associated with poor survival

Govaarts, Rosanne, Beeldman, Emma, Kampelmacher, Mike J., van Tol, Marie-Jose, van den Berg, Leonard H., van der Kooi, Anneke J., Wijkstra, Peter J., Zijnen-Suyker, Marianne, Cobben, Nicolle A. M., Sc

Journal:

Journal of Neurology

Année:

2016

Langue:

english

Fichier:

PDF, 577 KB

english, 2016

43

Mutations in the TRPV4 Gene Are Not Associated With Sporadic Progressive Muscular Atrophy

Vlam, Lotte, Schelhaas, Helenius J., van Blitterswijk, Marka, van Vught, Paul W. J., de Visser, Marianne, van der Kooi, Anneke J., van der Pol, W-Ludo, van den Berg, Leonard H.

Journal:

Archives of Neurology

Année:

2012

Langue:

english

Fichier:

PDF, 62 KB

english, 2012

44

No association between gluten sensitivity and amyotrophic lateral sclerosis

Visser, Anne E., Pazoki, Raha, Pulit, Sara L., van Rheenen, Wouter, Raaphorst, Joost, van der Kooi, Anneke J., Ricaño-Ponce, Isis, Wijmenga, Cisca, Otten, Henny G., Veldink, Jan H., van den Berg, Leon

Journal:

Journal of Neurology

Année:

2017

Langue:

english

Fichier:

PDF, 377 KB

english, 2017

45

Exploring the fitness hypothesis in ALS: a population-based case-control study of parental cause of death and lifespan

Visser, Anne E, Seelen, Meinie, Hulsbergen, Alexander, de Graaf, Joris, van der Kooi, Anneke J, Raaphorst, Joost, Veldink, Jan H, van den Berg, Leonard H

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Année:

2017

Langue:

english

Fichier:

PDF, 1.28 MB

english, 2017

46

A case series of PLS patients with frontotemporal dementia and overview of the literature

de Vries, Bálint S., Rustemeijer, Laura M.M., van der Kooi, Anneke J., Raaphorst, Joost, Schröder, Carin D., Nijboer, Tanja C.W., Hendrikse, Jeroen, Veldink, Jan H., van den Berg, Leonard H., van Es,

Journal:

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Année:

2017

Langue:

english

Fichier:

PDF, 855 KB

english, 2017

47

Paraneoplastic Necrotizing Autoimmune Myopathy in a Patient Undergoing Laparoscopic Pancreatoduodenectomy for Distal Cholangiocarcinoma

van Dijk, Stefan, van der Kooi, Anneke J., Aronica, Eleonora, van Gulik, Thomas M., Busch, Olivier R., Besselink, Marc G.

Journal:

Case Reports in Gastroenterology

Année:

2016

Langue:

english

Fichier:

PDF, 948 KB

english, 2016

48

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

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

Journal:

Environmental Health Perspectives

Année:

2017

Langue:

english

Fichier:

PDF, 108 KB

english, 2017

49

Diagnosis and treatment response in the asymmetric variant of chronic inflammatory demyelinating polyneuropathy

Lucke, Ilse M., Wieske, Luuk, van der Kooi, Anneke J., Schaik, Ivo N., Eftimov, Filip, Verhamme, Camiel

Journal:

Journal of the Peripheral Nervous System

Année:

2019

Langue:

english

Fichier:

PDF, 1.41 MB

english, 2019

50

Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis

Naumann, Marcel, Peikert, Kevin, Günther, Rene, van der Kooi, Anneke J., Aronica, Eleonora, Hübers, Annemarie, Danel, Veronique, Corcia, Philippe, Pan-Montojo, Francisco, Cirak, Sebahattin, Haliloglu,

Journal:

Annals of Clinical and Translational Neurology

Année:

2019

Langue:

english

Fichier:

PDF, 598 KB

english, 2019