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List of works by Jan L De Bleecker

193rd ENMC International workshop Pathology diagnosis of idiopathic inflammatory myopathies 30 November - 2 December 2012, Naarden, The Netherlands

scientific article published on 4 September 2013

205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies part II 28-30 March 2014, Naarden, The Netherlands

scientific article published on 10 December 2014

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

scientific article

A case of 5-fluorouracil-induced peripheral neuropathy

scientific article

A dual role for HSP90 and HSP70 in the inflammatory myopathies: from muscle fiber protection to active invasion by macrophages.

scientific article published in September 2009

Abnormal NFAT5 Physiology in Duchenne Muscular Dystrophy Fibroblasts as a Putative Explanation for the Permanent Fibrosis Formation in Duchenne Muscular Dystrophy

scientific article published on 24 October 2020

Activation of osmolyte pathways in inflammatory myopathy and Duchenne muscular dystrophy points to osmoregulation as a contributing pathogenic mechanism

scientific article published on 20 June 2016

Beta-chemokine receptor expression in idiopathic inflammatory myopathies.

scientific article

Chemokine profile of different inflammatory myopathies reflects humoral versus cytotoxic immune responses.

scientific article

Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion

scientific article published on 13 February 2017

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort

scientific article published on 15 December 2015

Clinical variability and onset age modifiers in an extended Belgian GRN founder family

scientific article

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

scientific article published on 26 October 2018

Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy

scientific article

Cytomegalovirus-induced myeloradiculopathy in an immunocompetent patient

scientific article published on 8 August 2014

Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups

scientific article published on 11 September 2015

Description of a Novel Mechanism Possibly Explaining the Antiproliferative Properties of Glucocorticoids in Duchenne Muscular Dystrophy Fibroblasts Based on Glucocorticoid Receptor GR and NFAT5

scientific article published on 03 December 2020

Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy.

scientific article published on 8 October 2013

Differential expression of chemokines in inflammatory myopathies

scientific article published in June 2002

Disease specificity of autoantibodies to cytosolic 5'-nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseases

scientific article

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort

scientific article published in March 2013

Distribution of glucocorticoid receptor alpha and beta subtypes in the idiopathic inflammatory myopathies.

scientific article

Distribution of the NF-kappaB complex in the inflammatory exudates characterizing the idiopathic inflammatory myopathies.

scientific article published in September 2009

Effect of genetic modifiers on cerebral lesions in Fabry disease

scientific article published on 01 April 2006

Focused HLA analysis in Caucasians with myositis identifies significant associations with autoantibody subgroups

scientific article published on 28 May 2019

Forearm deoxyhemoglobin and deoxymyoglobin (deoxy[Hb + Mb]) measured by near-infrared spectroscopy (NIRS) using a handgrip test in mitochondrial myopathy

scientific article published in February 2015

Forearm muscle oxygenation responses during and following arterial occlusion in patients with mitochondrial myopathy.

scientific article published on 23 September 2013

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

scientific article published in 2022

Giant arachnoid granulation of the posterior temporal bone wall mimicking a jugular foramen mass.

scientific article published in August 2014

How to approach the patient with muscular symptoms in the general neurological practice?

scientific article

Immune-Array Analysis in Sporadic Inclusion Body Myositis Reveals HLA-DRB1 Amino Acid Heterogeneity Across the Myositis Spectrum

scientific article published on 13 January 2017

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 2018

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

scientific article published on 21 December 2016

Khat chewing can cause stroke.

scientific article published on 8 June 2006

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

scientific article published on 19 May 2006

Multiple neurological syndromes during Hodgkin lymphoma remission.

scientific article published in March 2005

Myopathy mimicking an acute coronary syndrome.

scientific article published on 22 April 2016

NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients

scientific article

Necrotizing myopathy as a paraneoplastic syndrome associated with renal cell carcinoma

scientific article published on 30 September 2014

Neurological involvement in Erdheim-Chester disease

scientific article published on 14 February 2015

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

scientific article published on 30 March 2015

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

article

Organophosphate and carbamate poisoning

scientific article published on 01 January 2008

Potential therapeutic targets for idiopathic inflammatory myopathies.

scientific article published on November 2006

Ptosis as an associated finding in maternally inherited diabetes and deafness.

scientific article published in December 2010

Recurrent post-infectious rhabdomyolysis in muscle CPT-II deficiency caused by a novel missense mutation.

scientific article published on December 2008

Resolution of abnormal fractional anisotropy of substantia nigra in organophosphate intoxication. C. Swinnen et al., Acta Neurologica Belgica (2011) 111:378 ⬇️

scientific article published on September 1, 2012

Response to: 'Antisynthetase syndrome or what else? Different perspectives indicate the need for new classification criteria' by Cavagna et al.

scientific article published on 19 December 2017

Reversible orofacial dyskinesia after ofloxacin treatment.

scientific article

Reversible visual deficit and Corpus callosum lesions due to metronidazole toxicity.

scientific article published on 26 April 2005

Role of cytokines and chemokines in idiopathic inflammatory myopathies.

scientific article

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 23 December 2016

TNF alpha receptor genotype influences smoking-induced muscle-fibre-type shift and atrophy in mice

scientific article published on 29 February 2008

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

scientific article published on 29 October 2016

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

scientific article

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

scientific article published on 08 June 2016

The multifaceted character of lymphotoxin β in inflammatory myopathies and muscular dystrophies

scientific article published on 30 May 2012

The nonnecrotic invaded muscle fibers of polymyositis and sporadic inclusion body myositis: On the interplay of chemokines and stress proteins ⬇️

scientific article published on January 4, 2013

The tumor necrosis factor superfamily of cytokines in the inflammatory myopathies: potential targets for therapy.

scientific article

Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy

scientific article published in September 2007

Upregulation of chemokines and their receptors in Duchenne muscular dystrophy: potential for attenuation of myofiber necrosis

scientific article published in December 2012

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