I.H.B. Ginjaar: search on Z-Library

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1

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

Annemieke Aartsma-Rus, Ivo Fokkema, Jan Verschuuren, Ieke Ginjaar, Judith van Deutekom, Gert-Jan van Ommen, Johan T. den Dunnen

Journal:

Year:

2009

Language:

english

File:

PDF, 176 KB

english, 2009

2

P.7.15 What can we learn from an assisted bicycle training in a symptomatic girl with Duchenne muscular dystrophy? A case study

Huijben, A.L.C., Jansen, M., Ginjaar, H.B., Lammers, M., Putten, M., Alfen, N., de Groot, I.J.M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

3

Limb girdle muscular dystrophy: A pathological and immunohistochemical reevaluation

A.J. van der Kooi, H.B. Ginjaar, H.F.M. Busch, J.H.J. Wokke, P.G. Barth, M. de Visser

Journal:

Year:

1998

Language:

english

File:

PDF, 271 KB

english, 1998

4

Duplications in the DMD gene

S.J. White, A. Aartsma-Rus, K.M. Flanigan, R.B. Weiss, A.L.J. Kneppers, T. Lalic, A.A.M. Janson, H.B. Ginjaar, M.H. Breuning, J.T. den Dunnen

Journal:

Year:

2006

Language:

english

File:

PDF, 212 KB

english, 2006

5

CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia

Jaap C. Reijneveld, Ieke B. Ginjaar, Wendy S. Frankhuizen, Nicolette C. Notermans

Journal:

Year:

2006

Language:

english

File:

PDF, 64 KB

english, 2006

6

Different localization of dystrophin in developing and adult human skeletal muscle

Andy Wessels, Ieke B. Ginjaar, PhD Antoon F. M. Moorman, PhD Gert-Jan B. Van Ommen

Journal:

Year:

1991

Language:

english

File:

PDF, 851 KB

english, 1991

7

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

Ginjaar, Ieke B, Kneppers, Alexander LJ, v d Meulen, Jan-Douwe M, Anderson, Louise VB, Bremmer-Bout, Mattie, van Deutekom, Judith CT, Weegenaar, Jitske, den Dunnen, Johan T, Bakker, Egbert

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 413 KB

english, 2000

8

Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans

Rutten, Julie W., Boon, Elles M.J., Liem, Michael K., Dauwerse, Johannes G., Pont, Margot J., Vollebregt, Ellen, Maat-Kievit, Anneke J., Ginjaar, Hendrika B., Lakeman, Phillis, van Duinen, Sjoerd G.,

Journal:

Year:

2013

Language:

english

File:

PDF, 384 KB

english, 2013

9

What Can We Learn From Assisted Bicycle Training in a Girl With Dystrophinopathy? A Case Study

Huijben, J., Jansen, M., Ginjaar, I. B., Lammens, M., van Putten, M., van Alfen, N., de Groot, I. J.

Journal:

Journal of Child Neurology

Year:

2015

Language:

english

File:

PDF, 124 KB

english, 2015

10

Thought Ripples on Muscle Waves: Recognition of Rippling Muscle Disease

Voermans, N., Alfen, N. van, Drost, G., Ginjaar, H., Willemsen, M.

Journal:

Neuropediatrics

Year:

2008

Language:

english

File:

PDF, 129 KB

english, 2008

11

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:

Year:

2014

Language:

english

File:

PDF, 79 KB

english, 2014

12

Genetic analysis of a breast–ovarian cancer family, with 7 cases of colorectal cancer linked to BRCA1, fails to support a role for BRCA1 in colorectal tumorigenesis

T. Peelen, W. de Leeuw, K. van Lent, H. Morreau, R. van Eijk, M. van Vliet, J. Wijnen, M. Ligtenberg, H.B. Ginjaar, R. Zweemer, F. Menko, R. Fodde, G.-J.B. van Ommen, H.F.A. Vasen, C.J. Cornelisse, P.

Journal:

International Journal of Cancer

Year:

2000

Language:

english

File:

PDF, 81 KB

english, 2000

13

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients

Robert M.W. Hofstra, Inge M. Mulder, Rolf Vossen, Pia A. M. de Koning-Gans, Marian Kraak, Ieke B. Ginjaar, Annemarie H. van der Hout, Egbert Bakker, Charles H.C.M. Buys, Gert-Jan B. van Ommen, Anthoni

Journal:

Year:

2004

Language:

english

File:

PDF, 224 KB

english, 2004

14

Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis

Stefan J. White, Shirley Uitte de Willige, Dennis Verbove, Luisa Politano, Ieke Ginjaar, Martijn H. Breuning, Johan T. den Dunnen

Journal:

Year:

2005

Language:

english

File:

PDF, 138 KB

english, 2005

15

Dystrophin expression in the developing conduction system of the human heart

Dr. Ieke B. Ginjaar, Szabolcs Virágh, Marry W. M. Markman, Gert-Jan B. Van Ommen, Antoon F. M. Moorman

Journal:

Microscopy Research and Technique

Year:

1995

Language:

english

File:

PDF, 1.42 MB

english, 1995

16

A novel GLRA1 mutation in a recessive hyperekplexia pedigree

Rob J. Forsyth, Artemis D. Gika, Ieke Ginjaar, Marina A.J. Tijssen

Journal:

Movement Disorders

Year:

2007

Language:

english

File:

PDF, 71 KB

english, 2007

17

A new hyperekplexia family with a recessive frameshift mutation in the GLRA1 gene

Evelien Zoons, Ieke B. Ginjaar, Paul A.D. Bouma, Johannes A. Carpay, Marina A.J. Tijssen

Journal:

Movement Disorders

Year:

2012

Language:

english

File:

PDF, 703 KB

english, 2012

18

On the reactivity of organophosphorus compounds. I. The alkaline hydrolysis of some dialkyl p-nitrophenyl phosphates

L. Ginjaar, Miss S. Vel

Journal:

Recueil des Travaux Chimiques des Pays-Bas

Year:

1958

Language:

english

File:

PDF, 275 KB

english, 1958

19

On the reactivity of organophosphorus compounds: II. The effects of structural variations in the alkyl and alkoxy groups on the values of ΔH* and ΔS* for the alkaline hydrolysis of a number of organophosphorus esters

L. Ginjaar, S. Blasse-Vel

Journal:

Recueil des Travaux Chimiques des Pays-Bas

Year:

1966

Language:

english

File:

PDF, 261 KB

english, 1966

20

On the reactivity of organophosphorus compounds. Part III: Application of the Hammett relation to the rates of alkaline hydrolysis of a number of diethyl substituted phenyl phosphates

C. van Hooidonk, L. Ginjaar

Journal:

Recueil des Travaux Chimiques des Pays-Bas

Year:

1967

Language:

english

File:

PDF, 406 KB

english, 1967

21

On the reactivity of organophosphorus compounds: Part IV. The alkaline hydrolysis of some O-phosphylated 2-pyridine oximes

C. van Hooidonk, G. W. Kraaij, L. Ginjaar

Journal:

Recueil des Travaux Chimiques des Pays-Bas

Year:

1968

Language:

english

File:

PDF, 613 KB

english, 1968

22

The role of Government in the Development of Biotechnology

Journal:

Biotechnology Letters

Year:

1980

Language:

english

File:

PDF, 424 KB

english, 1980

23

Opening address

Journal:

Aquatic Ecology

Year:

1980

Language:

english

File:

PDF, 99 KB

english, 1980

24

Warm-up phenomenon in myotonia associated with the V445M sodium channel mutation

J. Trip, C.G. Faber, H.B. Ginjaar, B.G.M. van Engelen, G. Drost

Journal:

Journal of Neurology

Year:

2007

Language:

english

File:

PDF, 107 KB

english, 2007

25

Health status in non-dystrophic myotonias: close relation with pain and fatigue

J. Trip, J. de Vries, G. Drost, H. B. Ginjaar, B. G. M. van Engelen, C. G. Faber

Journal:

Journal of Neurology

Year:

2009

Language:

english

File:

PDF, 313 KB

english, 2009

26

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

H. B. Ginjaar, A. J. van der Kooi, H. Ceelie, A. L. J. Kneppers, M. van Meegen, P. G. Barth, H. F. M. Busch, J. H. J. Wokke, L. V. B. Anderson, C. G. Bönnemann, M. Jeanpierre, P. A. Bolhuis, A. F. M.

Journal:

Journal of Neurology

Year:

2000

Language:

english

File:

PDF, 965 KB

english, 2000

27

Isolated eyelid closure myotonia in two families with sodium channel myotonia

B. C. Stunnenberg, H. B. Ginjaar, J. Trip, C. G. Faber, B. G. van Engelen, G. Drost

Journal:

Year:

2010

Language:

english

File:

PDF, 133 KB

english, 2010

28

CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine

AH Stam, KRJ Vanmolkot, HPH Kremer, J Gärtner, J Brown, E Leshinsky-Silver, R Gilad, EE Kors, WS Frankhuizen, HB Ginjaar, J Haan, RR Frants, MD Ferrari, AMJM Van Den Maagdenberg, GM Terwindt

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 212 KB

english, 2008

29

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy

ATJM Helderman-van den Enden, R De Jong, JT Den Dunnen, JJ Houwing-Duistermaat, ALJ Kneppers, HB Ginjaar, MH Breuning, E Bakker

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 248 KB

english, 2009

30

Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?

ATJM Helderman-van den Enden, JC van den Bergen, MH Breuning, JJGM Verschuuren, A Tibben, E Bakker, HB Ginjaar

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 544 KB

english, 2011

31

CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood

B De Vries, AH Stam, F Beker, AMJM Van Den Maagdenberg, KRJ Vanmolkot, LAEM Laan, IB Ginjaar, RR Frants, H Lauffer, J Haan, JP Haas, GM Terwindt, MD Ferrari

Journal:

Year:

2008

Language:

english

File:

PDF, 240 KB

english, 2008

32

Therapeutic exon skipping for dysferlinopathies?

Aartsma-Rus, Annemieke, Singh, Kavita HK, Fokkema, Ivo FAC, Ginjaar, Ieke B, van Ommen, Gert-Jan, den Dunnen, Johan T, van der Maarel, Silvère M

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 153 KB

english, 2010

33

Therapeutic exon skipping for dysferlinopathies?

Aartsma-Rus, Annemieke, Singh, Kavita H K, Fokkema, Ivo F A C, Ginjaar, Ieke B, van Ommen, Gert-Jan, Dunnen, Johan T den, van der Maarel, Silvère M

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 413 KB

english, 2010

34

Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display

Huang, Yanchao, Verheesen, Peter, Roussis, Andreas, Frankhuizen, Wendy, Ginjaar, Ieke, Haldane, Faye, Laval, Steve, Anderson, Louise V B, Verrips, Theo, Frants, Rune R

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 204 KB

english, 2005

35

316 A Dutch pedigree with a deletion in the muscle promoter region of dystrophin presenting with various phenotypes

D. Broere, L.M.E. Smit, H.B. Ginjaar, F. Visscher, V.E. Drexhage, M. De Visser

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 255 KB

english, 1999

36

Criteria for a differentiated environmental management policy

L. Ginjaar, P. Winkel

Journal:

Atmospheric Environment (1967)

Year:

1967

Language:

english

File:

PDF, 281 KB

english, 1967

37

Elongation factor 2 as the target of the reaction product between sodium selenite and glutathione (GSSeSG) in the inhibiting of amino acid incorporation in vitro

L.N. Vernie, W.S. Bont, H.B. Ginjaar, P. Emmelot

Journal:

Biochimica et Biophysica Acta (BBA) - Nucleic Acids and Protein Synthesis

Year:

1975

Language:

english

File:

PDF, 614 KB

english, 1975

38

Amino acid incorporation in a cell-free system derived from rat liver studied with the aid of selenodiglutathione

L.N. Vernie, H.B. Ginjaar, I.T. Wilders, W.S. Bont

Journal:

Biochimica et Biophysica Acta (BBA) - Nucleic Acids and Protein Synthesis

Year:

1978

Language:

english

File:

PDF, 698 KB

english, 1978

39

Monoclonal antibody evidence for structural similarities between the central rod regions of actinin and dystrophin

Nguyen thi Man, J.M. Ellis, I.B. Ginjaar, M.M.B. van Paassen, G.-J.B. van Ommen, A.F.M. Moorman, A.J. Cartwright, G.E. Morris

Journal:

Year:

1990

Language:

english

File:

PDF, 667 KB

english, 1990

40

Construction of dystrophin fusion proteins to raise targeted antibodies to different epitopes

H.B. Ginjaar, H.B.M. van Paassen, J.T. den Dunnen, Nguyen thi Man, G.E. Morris, A.F.M. Moorman, G.J.B. van Ommen

Journal:

Year:

1992

Language:

english

File:

PDF, 343 KB

english, 1992

41

Application of in vitro myo-differentiation of non-muscle cells to enhance gene expression and facilitate analysis of muscle proteins

P.A.M. Roest, A.C. Van Der Tuijn, H.B. Ginjaar, R.C. Hoeben, F.B.L. Hogervorst, E. Bakker, J.T. Den Dunnen, G.J.B. Van Ommen

Journal:

Neuromuscular Disorders

Year:

1996

Language:

english

File:

PDF, 646 KB

english, 1996

42

Gastro-enteritis in hypokalemic periodic paralysis: A life threatening condition

Saskia Ebus, Aad Verrips, Ieke B. Ginjaar, Wim I.M. Verhagen

Journal:

Clinical Neurology and Neurosurgery

Year:

2012

Language:

english

File:

PDF, 112 KB

english, 2012

43

Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M)

Bradley Wakeman, Ian M. MacDonald, Ieke Ginjaar, Jack Tarleton, Deepti Babu

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2009

Language:

english

File:

PDF, 60 KB

english, 2009

44

T.O. 1 Antisense-induced exon skipping in Duchenne muscular dystrophy patients

A.A.M. Janson, I.H.B. Ginjaar, A. Aartsma-Rus, G.-J.B. van Ommen, A. van der Kooi, S. de Kimpe, P. Ekhart, G. Platenburg, J.J.G.M. Verschuuren, J.C.T. van Deutekom

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 45 KB

english, 2006

45

G.P.8.13 Cardiomyopathy in sarcoglycanopathies

S. Schade van Westrum, W. de Voogt, L. Dekker, I. Ginjaar, M. de Visser, A. van der Kooi

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 49 KB

english, 2007

46

G.P.10.13 Genotype-phenotype correlations for the skeletal muscle chloride- and sodium-channelopathies

J. Trip, G. Drost, I. Ginjaar, A. van der Kooi, N. Notermans, J. van Oostrom, J. Verschuuren, M. de Visser, B. van Engelen, C. Faber

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 61 KB

english, 2007

47

G.P.9.01 Impact of prenatal diagnosis on the incidence of DMD in the Netherlands

A. Helderman-van den Enden, H. Ginjaar, E. Bakker

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 63 KB

english, 2007

48

G.P.12.01 Epidemiology of the dystrophinopathies in the Netherlands

J.C. van den Bergen, C.S.M. Straathof, R.F. Pangalila, R. Broekgaarden, W.C.G. Overweg-Plandsoen, A.M. Aartsma-Rus, H.B. Ginjaar, E. Bakker, G.J.B. van Ommen, J.J.G. Verschuuren

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 60 KB

english, 2008

49

G.P.14.02 MLPA analysis of the CAPN3 gene detects large deletions in LGMD2A patients

I. Ginjaar, S. Tuit, W. Frankhuizen, A. van der Kooi, P. Doorn, D. Sival, E. Bakker

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 48 KB

english, 2008

50

Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis

Rowida Almomani, Nienke van der Stoep, Egbert Bakker, Johan T. den Dunnen, Martijn H. Breuning, Ieke B. Ginjaar

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 619 KB

english, 2009

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