Lista de obras - Jan L De Bleecker - Dominio Público Uruguay

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2011

A case of 5-fluorouracil-induced peripheral neuropathy

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

Beta-chemokine receptor expression in idiopathic inflammatory myopathies.

artículo científico publicado en 2005

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

artículo científico publicado en 2007

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

Cytomegalovirus-induced myeloradiculopathy in an immunocompetent patient

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2013

Differential expression of chemokines in inflammatory myopathies

artículo científico publicado en 2002

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

Effect of genetic modifiers on cerebral lesions in Fabry disease

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2017

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Khat chewing can cause stroke.

artículo científico publicado en 2006

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

artículo científico publicado en 2006

Multiple neurological syndromes during Hodgkin lymphoma remission.

artículo científico publicado en 2005

Myopathy mimicking an acute coronary syndrome.

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Necrotizing myopathy as a paraneoplastic syndrome associated with renal cell carcinoma

artículo científico publicado en 2014

Neurological involvement in Erdheim-Chester disease

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

article

Organophosphate and carbamate poisoning

artículo científico publicado en 2008

Potential therapeutic targets for idiopathic inflammatory myopathies.

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado el 1 de septiembre de 2012

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

artículo científico publicado en 2017

Reversible orofacial dyskinesia after ofloxacin treatment.

artículo científico publicado en 2004

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

artículo científico publicado en 2005

Role of cytokines and chemokines in idiopathic inflammatory myopathies.

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado el 4 de enero de 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

Lista de obras de Jan L De Bleecker

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

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

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

A case of 5-fluorouracil-induced peripheral neuropathy

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

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

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

Beta-chemokine receptor expression in idiopathic inflammatory myopathies.

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

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

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

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

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

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

Cytomegalovirus-induced myeloradiculopathy in an immunocompetent patient

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

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

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

Differential expression of chemokines in inflammatory myopathies

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

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

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

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

Effect of genetic modifiers on cerebral lesions in Fabry disease

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

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

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

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

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

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

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

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

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

Khat chewing can cause stroke.

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

Multiple neurological syndromes during Hodgkin lymphoma remission.

Myopathy mimicking an acute coronary syndrome.

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

Necrotizing myopathy as a paraneoplastic syndrome associated with renal cell carcinoma

Neurological involvement in Erdheim-Chester disease

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

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

Organophosphate and carbamate poisoning

Potential therapeutic targets for idiopathic inflammatory myopathies.

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

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

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

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

Reversible orofacial dyskinesia after ofloxacin treatment.

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

Role of cytokines and chemokines in idiopathic inflammatory myopathies.

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

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

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

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

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

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

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

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

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

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