Esther Brusse: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

Enzyme replacement therapy and fatigue in adults with Pompe disease

Deniz Güngör, Juna de Vries, Esther Brusse…

Journal:

BMC Musculoskeletal Disorders

Year:

2013

Language:

english

File:

PDF, 75 KB

english, 2013

2

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:

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

3

Phenotypical variation within 22 families with Pompe disease

Wens, Stephan C A, van Gelder, Carin M, Kruijshaar, Michelle E, de Vries, Juna M, van der Beek, Nadine A M E, Reuser, Arnold J J, van Doorn, Pieter A, van der Ploeg, Ans T, Brusse, Esther

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 190 KB

english, 2013

4

Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1 , The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

Sun, Yu, Almomani, Rowida, Breedveld, Guido J., Santen, Gijs W.E., Aten, Emmelien, Lefeber, Dirk J., Hoff, Jorrit I., Brusse, Esther, Verheijen, Frans W., Verdijk, Rob M., Kriek, Marjolein, Oostra, Be

Journal:

Year:

2013

Language:

english

File:

PDF, 396 KB

english, 2013

5

Increased aortic stiffness and blood pressure in non-classic Pompe disease

Wens, Stephan C. A., Kuperus, Esther, Mattace-Raso, Francesco U. S., Kruijshaar, Michelle E., Brusse, Esther, Montfort, Kees C. A. G. M., Boer, Marjan Scheltens-, Sijbrands, Eric J. G., Ploeg, Ans T.,

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 290 KB

english, 2014

6

Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease

Schaaf, Gerben J., van Gestel, Tom JM, Brusse, Esther, Verdijk, Robert M., de Coo, Irenaeus FM, van Doorn, Pieter A., van der Ploeg, Ans T., Pijnappel, WWM Pim

Journal:

Acta Neuropathologica Communications

Year:

2015

Language:

english

File:

PDF, 2.54 MB

english, 2015

7

Long-term benefit of enzyme replacement therapy in Pompe disease

Kuperus, Esther, Kruijshaar, Michelle E., Wens, Stephan C.A., de Vries, Juna M., Favejee, Marein M., van der Meijden, Jan C., Rizopoulos, Dimitris, Brusse, Esther, van Doorn, Pieter A., van der Ploeg,

Journal:

Year:

2017

Language:

english

File:

PDF, 610 KB

english, 2017

8

Neuromyelitis optica with endocrinopathy: further evidence of a new syndrome

Brusse, Esther, Tijssen, Cees

Journal:

Neuro-Ophthalmology

Year:

2001

Language:

english

File:

PDF, 229 KB

english, 2001

9

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:

Year:

2015

Language:

english

File:

PDF, 149 KB

english, 2015

10

A novel 16p locus associated withBSCL2hereditary motor neuronopathy: a genetic modifier?

Esther Brusse, Danielle Majoor-Krakauer, Bianca M. de Graaf, Gerhard H. Visser, Sigrid Swagemakers, Agnita J.W. Boon, Ben A. Oostra, Aida M. Bertoli-Avella

Journal:

Year:

2009

Language:

english

File:

PDF, 603 KB

english, 2009

11

Pulsed high-dose dexamethasone versus standard prednisolone treatment for chronic inflammatory demyelinating polyradiculoneuropathy (PREDICT study): a double-blind, randomised, controlled trial

Ivo N van Schaik, Filip Eftimov, Pieter A van Doorn, Esther Brusse, Leonard H van den Berg, W Ludo van der Pol, Catharina G Faber, Joost CH van Oostrom, Oscar JM Vogels, Rob DM Hadden, Bert U Kleine,

Journal:

The Lancet Neurology

Year:

2010

Language:

english

File:

PDF, 228 KB

english, 2010

12

Cortical Brain Malformations

de Wit, Marie Claire Yvette, Lequin, Maarten H., de Coo, Ireneaus F. M., Brusse, Esther, Halley, Dicky J. J., van de Graaf, Raoul, Schot, Rachel, Verheijen, Frans W., Mancini, Grazia M. S.

Journal:

Archives of Neurology

Year:

2008

Language:

english

File:

PDF, 261 KB

english, 2008

13

Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation

Mol, Merel O., van Rooij, Jeroen G.J., Brusse, Esther, Verkerk, Annemieke J.M.H., Melhem, Shamiram, den Dunnen, Wilfred F.A., Rizzu, Patrizia, Cupidi, Chiara, van Swieten, John C., Donker Kaat, Laura

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 503 KB

2020

14

A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia

John C. van Swieten, Esther Brusse, Bianca M. de Graaf, Elmar Krieger, Raoul van de Graaf, Inge de Koning, Anneke Maat-Kievit, Peter Leegwater, Dennis Dooijes, Ben A. Oostra, Peter Heutink

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 1.45 MB

english, 2003

15

A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients

Polet, Sjoukje S., Anderson, David G., Koens, Lisette H., van Egmond, Martje E., Drost, Gea, Brusse, Esther, Willemsen, MichÃ¨l AAP., Sival, Deborah A., Brouwer, Oebele F., Kremer, Hubertus PH., de Vr

Journal:

Parkinsonism & Related Disorders

Year:

2020

Language:

english

File:

PDF, 314 KB

english, 2020

16

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype

Esther Brusse, Inge de Koning, Anneke Maat-Kievit, Ben A. Oostra, Peter Heutink, John C. van Swieten

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 152 KB

english, 2006

17

Randomised trial of intravenous immunoglobulin maintenance treatment regimens in chronic inflammatory demyelinating polradiculoneuropathy

Kuitwaard, Krista, Brusse, Esther, Jacobs, Bart C., Vrancken, Alexander F.J.E., Eftimov, Filip, Notermans, Nicolette C., Kooi, Anneke J. van der, Fokkink, WillemâJan R., Nieboer, Daan, Lingsma, Hest

Journal:

European Journal of Neurology

Year:

2020

File:

PDF, 1.13 MB

2020

18

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:

Year:

2015

File:

PDF, 149 KB

2015

19

Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction

Peter C.G. Nijssen, Esther Brusse, Antonius C.M. Leyten, J.J. Martin, Johannes L.J.M. Teepen, Raymund A.C. Roos

Journal:

Movement Disorders

Year:

2002

Language:

english

File:

PDF, 96 KB

english, 2002

20

Guillain-BarrÃ© syndrome and chronic inflammatory demyelinating polyradiculoneuropathy after alemtuzumab therapy in kidney transplant recipients

van der Zwan, Marieke, Hesselink, Dennis A., Brusse, Esther, van Doorn, Pieter A., van den Hoogen, Martijn W.F., de Weerd, Annelies E., Jacobs, Bart C.

Journal:

Neurology: Neuroimmunology & Neuroinflammation

Year:

2020

File:

PDF, 189 KB

2020

21

Does immediate smart feedback on therapy adherence and inhalation technique improve asthma control in children with uncontrolled asthma? A study protocol of the IMAGINE I study

Sportel, Esther T., Oude Wolcherink, Martijn J., van der Palen, Job, Lenferink, Anke, Thio, Boony J., Movig, Kris L. L., Brusse-Keizer, Marjolein G. J.

Journal:

Year:

2020

File:

PDF, 1.36 MB

2020

22

Compromised satellite cell activation contributes to continued muscle wasting in Pompe disease

Schaaf, Gerben, van Gestel, Tom, Brusse, Esther, Verdijk, Robbert M., de Coo, Iraneus F.M., van Doorn, Pieter A., van der Ploeg, Ans T., Pijnappel, Pim W.W.M.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 69 KB

english, 2016

23

Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literature

Molema, Femke, Williams, Monique, Langendonk, Janneke, DarwishâMurad, Sarwa, Wetering, Jacqueline, Jacobs, Ed, Onkenhout, Willem, Brusse, Esther, Eerden, Anke, Wagenmakers, Margreet

Journal:

Year:

2020

Language:

english

File:

PDF, 3.24 MB

english, 2020

24

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease

Harlaar, Laurike, Hogrel, Jean-Yves, Perniconi, Barbara, Kruijshaar, Michelle E., Rizopoulos, Dimitris, Taouagh, Nadjib, Canal, AurÃ©lie, Brusse, Esther, van Doorn, Pieter A., van der Ploeg, Ans T., L

Journal:

Year:

2019

File:

PDF, 1.15 MB

2019

25

Increased aortic stiffness and blood pressure in non-classic Pompe disease

Kuperus, Esther, Wens, Stephan C.A., Mattace-Raso, Francesco U.S., Michelle, Michelle E., Brusse, Esther, van Montfort, Kees C.A.G.M., de Boer, Marjan Scheltens-, Sijbrands, Eric J.G., van der Ploeg,

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 60 KB

english, 2014

26

Enzyme replacement therapy and fatigue in adults with Pompe disease

Güngör, Deniz, de Vries, Juna M., Brusse, Esther, Kruijshaar, Michelle E., Hop, Wim C.J., Murawska, Magda, van den Berg, Linda E.M., Reuser, Arnold J.J., van Doorn, Pieter A., Hagemans, Marloes L.C.,

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 356 KB

english, 2013

27

Intravenous immunoglobulins as first-line treatment in idiopathic inflammatory myopathies: a pilot study

Lim, Johan, Eftimov, Filip, Verhamme, Camiel, Brusse, Esther, Hoogendijk, Jessica E, Saris, Christiaan G J, Raaphorst, Joost, De Haan, Rob J, van Schaik, Ivo N, Aronica, Eleonora, de Visser, Marianne,

Journal:

Year:

2020

File:

PDF, 330 KB

2020

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски