I. Ginjaar

发表

Clinical experience with long-term acetazolamide treatment in children with nondystrophic myotonias: a three-case report.

G. Drost, Joekie Markhorst, B. Stunnenberg, 2014, Pediatric neurology.

Local dystrophin restoration with antisense oligonucleotide PRO051.

Johan T den Dunnen, G. van Ommen, J. D. den Dunnen, 2007, The New England journal of medicine.

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

K. Bushby, R. Frants, S. Laval, 2005, European Journal of Human Genetics.

Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

W. Linssen, C. Straathof, Ludo W van der Pol, 2019, Clinical genetics.

The human beta 2-microglobulin gene. Primary structure and definition of the transcriptional unit.

I. Ginjaar, F. Hochstenbach, D. Güssow, 1987, Journal of immunology.

Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers

R. D. de Haan, E. Endert, I. Ginjaar, 2013, BMC Neurology.

Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis

J. D. den Dunnen, S. White, M. Breuning, 2005, Human mutation.

Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for Duchenne muscular dystrophy.

A. Moorman, J. D. den Dunnen, E. Bakker, 1991, Journal of medical genetics.

Myotonic discharges discriminate chloride from sodium muscle channelopathies

D. Stegeman, M. Zwarts, B. Engelen, 2015, Neuromuscular Disorders.

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

N. van Alfen, I. Ginjaar, M. van Putten, 2015, Journal of child neurology.

Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame.

K. Bushby, J. D. den Dunnen, M. Johnson, 1992, Journal of medical genetics.

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

A. Essen, E. Bakker, H. Scheffer, 1997, Journal of medical genetics.

Monoclonal antibodies for dystrophin analysis. Epitope mapping and improved binding to SDS-treated muscle sections.

T. M. Nguyen, I. Ginjaar, G. van Ommen, 1992, The Biochemical journal.

IMMUNOLOGICAL STUDY OF DYSTROPHIN IN DUCHENNE FETUS

E. Bakker, I. Ginjaar, A. Wessels, 1989, The Lancet.

Different localization of dystrophin in developing and adult human skeletal muscle

A. Moorman, G. van Ommen, I. Ginjaar, 1991, Muscle & nerve.

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

A. Moorman, J. Ellis, I. Ginjaar, 1990, FEBS letters.

Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells.

F. Baas, J. T. Dunnen, J. D. den Dunnen, 2001, Human molecular genetics.

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

Colin A. Johnson, M. Hurles, D. Bonthron, 2013, Nature Genetics.

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

J. T. Dunnen, E. Bakker, I. Ginjaar, 2000, European Journal of Human Genetics.

The importance of genetic diagnosis for Duchenne muscular dystrophy

K. Bushby, Annemieke Aartsma-Rus, I. Ginjaar, 2016, Journal of Medical Genetics.

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

B. Engelen, G. Drost, J. Verschuuren, 2008, European Journal of Human Genetics.

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

M. Topf, R. Thomas, A. Bode, 2013, Neurobiology of Disease.

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

G. van Ommen, I. Fokkema, J. D. den Dunnen, 2009, Human mutation.

A protein truncation test for Emery–Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations

J. D. Dunnen, E. Bakker, J. Yates, 1999, Neuromuscular Disorders.

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

E. Bakker, M. Breuning, R. Almomani, 2009, Neuromuscular Disorders.

Duchenne and Becker muscular dystrophy.

E. Bakker, I. Ginjaar, A. Kneppers, 2020, Methods in molecular medicine.

Therapeutic exon skipping for dysferlinopathies?

J. T. Dunnen, G. van Ommen, I. Fokkema, 2010, European Journal of Human Genetics.

Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies

A. Chapelle, M. Koenig, J. Kaplan, 1990, Cell.

Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation

M. Ferrari, B. Poll-The, R. Frants, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis.

K. Bushby, J. D. den Dunnen, M. Johnson, 1993, Journal of medical genetics.

Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year’s Journey

H. V. van Duyvenvoorde, I. Ginjaar, S. van Koningsbruggen, 2020, Journal of neuromuscular diseases.

Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.

J. D. den Dunnen, F. Hogervorst, E. Bakker, 1996, Journal of medical genetics.

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.

K. Bushby, J. D. den Dunnen, M. Johnson, 1993, Journal of medical genetics.

Dystrophin expression in Duchenne patients with "in-frame" gene deletions.

K. Bushby, M. Johnson, I. Ginjaar, 1993, Neuropediatrics.

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.

K. Bushby, J. D. den Dunnen, M. Johnson, 1993, Journal of medical genetics.

Reduced cerebral gray matter and altered white matter in boys with Duchenne muscular dystrophy

A. Webb, H. Kan, E. Zwet, 2014, Annals of neurology.

Specificity of dystrophin analysis improved with monoclonal antibodies

J. Ellis, G. V. Ommen, I. Ginjaar, 1990, The Lancet.

Original articles Immunohistochemical studies showtruncated dystrophins inthemyotubes ofthree fetuses atrisk forDuchenne muscular dystrophy

E. Bakker, G. V. Ommen, I. Ginjaar, 1991 .

Detection of truncated dystrophin in fetal DMD myotubes.

K. Fischbeck, A. Moorman, J. D. den Dunnen, 1990, Advances in experimental medicine and biology.

Novel mutations in three patients with LGMD2C with phenotypic differences.

B. Hamel, S. Vermeer, H. T. ter Laak, 2004, Pediatric neurology.

P.182Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: the clinical and molecular spectrum of 244 patients

W. Linssen, C. Straathof, N. Voermans, 2019, Neuromuscular Disorders.

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

A. Wilde, W. G. Voogt, I. Ginjaar, 2014, Muscle & nerve.

ANO5 mutations in the Dutch limb girdle muscular dystrophy population

C. Straathof, I. Ginjaar, P. Doorn, 2011, Neuromuscular Disorders.

Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy

E. Bakker, I. Ginjaar, M. de Visser, 2005, Neurology.

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

I. MacDonald, I. Ginjaar, Deepti Babu, 2009, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

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

R. Vossen, R. Hofstra, J. D. den Dunnen, 2004, Human mutation.

Fetal dystrophin to diagnose carrier status

A. Haeringen, E. Bakker, I. Ginjaar, 1991, The Lancet.

Source (or Part of the following Source): Type Article Title Early Seizures and Cerebral Oedema after Trivial Head Trauma Associated with the Cacna1a S218l Mutation Author(s)

Ferrari, I. Ginjaar, J. Haan, 2022 .

Early seizures and cerebral oedema after trivial head trauma associated with the CACNA 1 A S 218 L mutation

B. Poll-The, I. Ginjaar, R. Frants, 2009 .

Early seizures and cerebral oedema after trivial head trauma associated with the CACNA 1 A S 218 L mutation

B. Poll-The, I. Ginjaar, R. Frants, 2009 .

Uva-dare (digital Academic Repository) Early Seizures and Cerebral Oedema after Trivial Head Trauma Associated with the Cacna1a S218l Mutation

Ferrari, B. Poll-The, I. Ginjaar, 2022 .

Dystrophin expression in the developing conduction system of the human heart

A. Moorman, G. van Ommen, I. Ginjaar, 1995, Microscopy research and technique.

ANO5 mutations in the Dutch limb girdle muscular dystrophy population

C. Straathof, I. Ginjaar, P. Doorn, 2011, Neuromuscular Disorders.

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

J. Reijneveld, I. Ginjaar, N. Notermans, 2006, Muscle & nerve.