H.B. Ginjaar : rechercher sur Z-Library

Année:

2009

Langue:

english

Fichier:

PDF, 176 KB

english, 2009

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:

Année:

2013

Langue:

english

Fichier:

PDF, 48 KB

english, 2013

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:

Année:

1998

Langue:

english

Fichier:

PDF, 271 KB

english, 1998

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:

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

Année:

2006

Langue:

english

Fichier:

PDF, 212 KB

english, 2006

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

Journal:

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

Année:

2006

Langue:

english

Fichier:

PDF, 64 KB

english, 2006

Different localization of dystrophin in developing and adult human skeletal muscle

Journal:

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

Année:

1991

Langue:

english

Fichier:

PDF, 851 KB

english, 1991

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

Journal:

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.,

Année:

2000

Langue:

english

Fichier:

PDF, 413 KB

english, 2000

Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans

Journal:

Journal of Child Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 384 KB

english, 2013

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:

Année:

2015

Langue:

english

Fichier:

PDF, 124 KB

english, 2015

Thought Ripples on Muscle Waves: Recognition of Rippling Muscle Disease

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

Journal:

Neuropediatrics

Année:

2008

Langue:

english

Fichier:

PDF, 129 KB

english, 2008

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:

International Journal of Cancer

Année:

2014

Langue:

english

Fichier:

PDF, 79 KB

english, 2014

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:

Année:

2000

Langue:

english

Fichier:

PDF, 81 KB

english, 2000

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:

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

Année:

2004

Langue:

english

Fichier:

PDF, 224 KB

english, 2004

Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis

Journal:

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

Année:

2005

Langue:

english

Fichier:

PDF, 138 KB

english, 2005

Dystrophin expression in the developing conduction system of the human heart

Journal:

Microscopy Research and Technique

Année:

1995

Langue:

english

Fichier:

PDF, 1.42 MB

english, 1995

A novel GLRA1 mutation in a recessive hyperekplexia pedigree

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

Journal:

Movement Disorders

Année:

2007

Langue:

english

Fichier:

PDF, 71 KB

english, 2007

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

Année:

2012

Langue:

english

Fichier:

PDF, 703 KB

english, 2012

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

L. Ginjaar, Miss S. Vel

Journal:

L. Ginjaar, S. Blasse-Vel

Année:

1958

Langue:

english

Fichier:

PDF, 275 KB

english, 1958

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

Journal:

C. van Hooidonk, L. Ginjaar

Année:

1966

Langue:

english

Fichier:

PDF, 261 KB

english, 1966

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

Journal:

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

Année:

1967

Langue:

english

Fichier:

PDF, 406 KB

english, 1967

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

Journal:

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

Année:

1968

Langue:

english

Fichier:

PDF, 613 KB

english, 1968

The role of Government in the Development of Biotechnology

L. Ginjaar

Journal:

Biotechnology Letters

Année:

1980

Langue:

english

Fichier:

PDF, 424 KB

english, 1980

Opening address

L. Ginjaar

Journal:

Aquatic Ecology

Année:

1980

Langue:

english

Fichier:

PDF, 99 KB

english, 1980

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

Année:

2007

Langue:

english

Fichier:

PDF, 107 KB

english, 2007

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

Année:

2009

Langue:

english

Fichier:

PDF, 313 KB

english, 2009

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

Année:

2000

Langue:

english

Fichier:

PDF, 965 KB

english, 2000

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:

neurogenetics

Année:

2010

Langue:

english

Fichier:

PDF, 133 KB

english, 2010

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

Année:

2008

Langue:

english

Fichier:

PDF, 212 KB

english, 2008

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

Année:

2009

Langue:

english

Fichier:

PDF, 248 KB

english, 2009

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

Année:

2011

Langue:

english

Fichier:

PDF, 544 KB

english, 2011

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:

Cephalalgia

Année:

2008

Langue:

english

Fichier:

PDF, 240 KB

english, 2008

Therapeutic exon skipping for dysferlinopathies?

Journal:

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

Année:

2010

Langue:

english

Fichier:

PDF, 153 KB

english, 2010

Therapeutic exon skipping for dysferlinopathies?

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 413 KB

english, 2010

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 Paediatric Neurology

Année:

2005

Langue:

english

Fichier:

PDF, 204 KB

english, 2005

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:

Année:

1999

Langue:

english

Fichier:

PDF, 255 KB

english, 1999

Criteria for a differentiated environmental management policy

L. Ginjaar, P. Winkel

Journal:

Atmospheric Environment (1967)

Année:

1967

Langue:

english

Fichier:

PDF, 281 KB

english, 1967

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

Année:

1975

Langue:

english

Fichier:

PDF, 614 KB

english, 1975

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

Année:

1978

Langue:

english

Fichier:

PDF, 698 KB

english, 1978

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:

FEBS Letters

Année:

1990

Langue:

english

Fichier:

PDF, 667 KB

english, 1990

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:

FEBS Letters

Année:

1992

Langue:

english

Fichier:

PDF, 343 KB

english, 1992

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:

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

Année:

1996

Langue:

english

Fichier:

PDF, 646 KB

english, 1996

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

Journal:

Clinical Neurology and Neurosurgery

Année:

2012

Langue:

english

Fichier:

PDF, 112 KB

english, 2012

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

Année:

2009

Langue:

english

Fichier:

PDF, 60 KB

english, 2009

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:

Année:

2006

Langue:

english

Fichier:

PDF, 45 KB

english, 2006

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:

Année:

2007

Langue:

english

Fichier:

PDF, 49 KB

english, 2007

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:

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

Année:

2007

Langue:

english

Fichier:

PDF, 61 KB

english, 2007

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

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 63 KB

english, 2007

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:

Année:

2008

Langue:

english

Fichier:

PDF, 60 KB

english, 2008

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:

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

Année:

2008

Langue:

english

Fichier:

PDF, 48 KB

english, 2008

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

Journal: