Lista de obras - Philip Van Damme - Dominio Público Uruguay

A 62-Year-Old Woman with Muscle Weakness.

artículo científico publicado en 2015

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2013

A mapping review of international guidance on the management and care of amyotrophic lateral sclerosis (ALS).

artículo científico publicado en 2016

AAV9-mediated gene delivery of MCT1 to oligodendrocytes does not provide a therapeutic benefit in a mouse model of ALS

artículo científico publicado en 2021

APP processing in human pluripotent stem cell-derived neurons is resistant to NSAID-based γ-secretase modulation.

artículo científico publicado en 2013

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

scientific article published on 19 May 2020

ATXN2 trinucleotide repeat length correlates with risk of ALS.

artículo científico publicado en 2016

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

artículo científico publicado en 2012

Amyloid precursor protein mutation E682K at the alternative β-secretase cleavage β'-site increases Aβ generation

artículo científico publicado en 2011

An ALS case with 38 (G4C2)-repeats in the C9orf72 gene shows TDP-43 and sparse dipeptide repeat protein pathology

scientific article published on 27 March 2019

An unusual presentation of Guillain-Barré syndrome associated with monospecific anti-GD1b antibodies

artículo científico publicado en 2010

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

artículo científico

Another piece in the progranulin puzzle: special binding between progranulin and prosaposin creates additional lysosomal access: An Editorial Comment for 'The interaction between progranulin and prosaposin is mediated by granulins and the linker reg

artículo científico publicado en 2017

Anti-HMGCR antibodies as a biomarker for immune-mediated necrotizing myopathies: A history of statins and experience from a large international multi-center study

artículo científico publicado en 2016

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

artículo científico publicado en 2016

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico publicado en 2022

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

scientific article published on 01 May 2009

Awaji criteria improves the diagnostic sensitivity in amyotrophic lateral sclerosis: A systematic review using individual patient data

artículo científico publicado en 2016

Benefit of the Awaji diagnostic algorithm for amyotrophic lateral sclerosis: a prospective study

artículo científico publicado en 2011

Benefits of intensive insulin therapy on neuromuscular complications in routine daily critical care practice: a retrospective study

artículo científico publicado en 2009

Beta-2 microglobulin is important for disease progression in a murine model for amyotrophic lateral sclerosis.

artículo científico publicado en 2013

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis

artículo científico publicado en 2014

C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility

artículo científico publicado en 2021

C9orf72-generated poly-GR and poly-PR do not directly interfere with nucleocytoplasmic transport

artículo científico publicado en 2019

Cellular Stress Induces Nucleocytoplasmic Transport Deficits Independent of Stress Granules

scientific article published on 03 May 2022

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico

Comparison of elevated phosphorylated neurofilament heavy chains in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis

artículo científico publicado en 2017

Defining Y-SNP variation among the Flemish population (Western Europe) by full genome sequencing.

artículo científico publicado en 2017

Derivation of norms for the Dutch version of the Edinburgh cognitive and behavioral ALS screen

article by Leonhard A. Bakker et al published 12 October 2018 in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Development of Improved HDAC6 Inhibitors as Pharmacological Therapy for Axonal Charcot-Marie-Tooth Disease

artículo científico publicado en 2016

Diagnostic Challenges and Clinical Characteristics of Hepatitis E Virus-Associated Guillain-Barré Syndrome.

artículo científico publicado en 2016

Diagnostic yield of testing for RFC1 repeat expansions in patients with unexplained adult-onset cerebellar ataxia

artículo científico publicado en 2020

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD.

artículo científico

EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force

artículo científico publicado en 2011

EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

artículo científico publicado en 2012

Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR).

artículo científico publicado en 2014

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy

artículo científico publicado en 2013

Finger extension weakness and downbeat nystagmus motor neuron disease syndrome: A novel motor neuron disorder?

artículo científico publicado en 2017

Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study

artículo científico publicado en 2013

G37R SOD1 mutant alters mitochondrial complex I activity, Ca(2+) uptake and ATP production.

artículo científico publicado en 2011

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

artículo científico publicado en 2016

Genetic Creutzfeldt-Jakob disease mimicking chronic inflammatory demyelinating polyneuropathy

artículo científico publicado en 2015

Genetic ablation of IP3 receptor 2 increases cytokines and decreases survival of SOD1G93A mice

artículo científico publicado en 2016

Genetic ablation of phospholipase C delta 1 increases survival in SOD1(G93A) mice

artículo científico publicado en 2013

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

artículo científico publicado en 2016

GluR2 deficiency accelerates motor neuron degeneration in a mouse model of amyotrophic lateral sclerosis.

artículo científico publicado en 2005

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

scientific article published on 11 October 2012

HDAC3 Inhibition Stimulates Myelination in a CMT1A Mouse Model

artículo científico publicado en 2022

HDAC6 inhibition restores TDP-43 pathology and axonal transport defects in human motor neurons with TARDBP mutations

artículo científico publicado en 2021

HDAC6 inhibition reverses axonal transport defects in motor neurons derived from FUS-ALS patients

artículo científico publicado en 2017

HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease

article

Hdac6 deletion delays disease progression in the SOD1G93A mouse model of ALS.

artículo científico publicado en 2013

How much of the missing heritability of ALS is hidden in known ALS genes?

artículo científico publicado en 2018

Identification and characterization of Nanobodies targeting the EphA4 receptor.

artículo científico publicado en 2017

IgG4 autoantibodies against muscle-specific kinase undergo Fab-arm exchange in myasthenia gravis patients

artículo científico publicado en 2016

Inflammatory markers in cerebrospinal fluid: independent prognostic biomarkers in amyotrophic lateral sclerosis?

artículo científico publicado en 2019

Inside out: the role of nucleocytoplasmic transport in ALS and FTLD

artículo científico publicado en 2016

Insights into the identification of a molecular signature for amyotrophic lateral sclerosis exploiting integrated microRNA profiling of iPSC-derived motor neurons and exosomes

artículo científico publicado en 2022

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

artículo científico publicado en 2016

Ivermectin inhibits AMPA receptor-mediated excitotoxicity in cultured motor neurons and extends the life span of a transgenic mouse model of amyotrophic lateral sclerosis

artículo científico publicado en 2006

July 2017 ENCALS statement on edaravone

artículo científico publicado en 2017

Long-lasting changes in GABA responsiveness in cultured neurons

artículo científico publicado en 2004

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Metabolic Syndrome, Neurotoxic 1-Deoxysphingolipids and Nervous Tissue Inflammation in Chronic Idiopathic Axonal Polyneuropathy (CIAP)

artículo científico publicado en 2017

Microbleeds and the risk of recurrent stroke

artículo científico publicado en 2010

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies

artículo científico publicado en 2013

Modelling amyotrophic lateral sclerosis: progress and possibilities

artículo científico publicado en 2017

Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS

article

Multicentre quality control evaluation of different biomarker candidates for amyotrophic lateral sclerosis

Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis

artículo científico publicado en 2016

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

artículo científico publicado en 2017

NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis

artículo científico publicado en 2012

Negative commercial screening test for paraneoplastic antibodies in a case of opsoclonus.

artículo científico publicado en 2017

Neurofilament light chain and C reactive protein explored as predictors of survival in amyotrophic lateral sclerosis

scientific article published on 06 February 2020

Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease.

artículo científico publicado en 2017

Neurological picture. FDG-PET findings in three cases of Mills' syndrome

artículo científico publicado en 2015

Neuronal overexpression of IP₃ receptor 2 is detrimental in mutant SOD1 mice

artículo científico publicado en 2012

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis

artículo científico publicado en 2013

Normalization of 14-3-3 in CJD.

artículo científico publicado en 2008

Novel role for vascular endothelial growth factor (VEGF) receptor-1 and its ligand VEGF-B in motor neuron degeneration

artículo científico publicado en 2008

PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway

artículo científico publicado en 2020

Pathogenic cysteine mutations affect progranulin function and production of mature granulins

artículo científico publicado en 2009

Patient-ventilator asynchrony, leaks and sleep in patients with amyotrophic lateral sclerosis

artículo científico publicado en 2016

Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics ⬇️

artículo científico publicado en 2017

Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis

artículo científico publicado en 2010

Positron emission tomography in amyotrophic lateral sclerosis: Towards targeting of molecular pathological hallmarks.

artículo científico publicado en 2016

Possible influence of AMPD1 on cholinergic neurotransmission and sleep

artículo científico publicado en 2015

Prevention of intestinal obstruction reveals progressive neurodegeneration in mutant TDP-43 (A315T) mice

artículo científico publicado en 2014

Prognostic value of clinical and electrodiagnostic parameters at time of diagnosis in patients with amyotrophic lateral sclerosis

artículo científico publicado en 2017

Progranulin does not affect motor neuron degeneration in mutant SOD1 mice and rats

artículo científico publicado en 2013

Progranulin functions as a cathepsin D chaperone to stimulate axonal outgrowth in vivo

artículo científico publicado en 2017

Progranulin is neurotrophic in vivo and protects against a mutant TDP-43 induced axonopathy

artículo científico publicado en 2010

Progranulin reduces insoluble TDP-43 levels, slows down axonal degeneration and prolongs survival in mutant TDP-43 mice

scientific article published on 16 October 2018

Prospective Validation of 18F-FDG Brain PET Discriminant Analysis Methods in the Diagnosis of Amyotrophic Lateral Sclerosis.

artículo científico publicado en 2016

Quantitative Nucleocytoplasmic Transport Assays in Cellular Models of Neurodegeneration

publication published on 20 June 2020

Randomized cross-over trial of ventilator modes during non-invasive ventilation titration in amyotrophic lateral sclerosis

artículo científico publicado en 2017

Rapamycin increases survival in ALS mice lacking mature lymphocytes.

scientific article published on 11 September 2013

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

artículo científico publicado en 2014

Recent advances in motor neuron disease.

artículo científico publicado en 2009

Restoration of progranulin expression rescues cortical neuron generation in an induced pluripotent stem cell model of frontotemporal dementia.

artículo científico publicado en 2014

Role of mitochondria in kainate-induced fast Ca2+ transients in cultured spinal motor neurons

Screening for lipoprotein receptor-related protein 4-, agrin-, and titin-antibodies and exploring the autoimmune spectrum in myasthenia gravis.

artículo científico publicado en 2017

Serum biomarker for progranulin-associated frontotemporal lobar degeneration

artículo científico publicado en 2009

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

artículo científico publicado en 2017

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

artículo científico publicado en 2022

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

scientific article published on 23 December 2016

TDP-43 proteinopathies: a new wave of neurodegenerative diseases

artículo científico publicado en 2020

TRICALS: creating a highway toward a cure

artículo científico publicado en 2020

The effect of SMN gene dosage on ALS risk and disease severity

scientific article published on 02 January 2021

The neurobiology of amyotrophic lateral sclerosis.

scientific article published on 07 June 2010

The neurotrophic properties of progranulin depend on the granulin E domain but do not require sortilin binding.

artículo científico publicado en 2013

Treatment of motoneuron degeneration by intracerebroventricular delivery of VEGF in a rat model of ALS.

artículo científico publicado en 2004

Treatment-related peripheral neuropathy in multiple myeloma: the challenge continues

artículo científico publicado en 2010

UNC13A is a modifier of survival in amyotrophic lateral sclerosis

artículo científico publicado en 2011

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

artículo científico publicado en 2014

Upregulation of HSP27 in a Transgenic Model of ALS

article

VEGF protects motor neurons against excitotoxicity by upregulation of GluR2.

artículo científico publicado en 2009

Value of 18fluorodeoxyglucose-positron-emission tomography in amyotrophic lateral sclerosis: a prospective study

artículo científico publicado en 2014

Vascular endothelial growth factor in amyotrophic lateral sclerosis and other neurodegenerative diseases.

artículo científico publicado en 2006

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis

artículo científico publicado en 2012

Lista de obras de Philip Van Damme

A 62-Year-Old Woman with Muscle Weakness.

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

A mapping review of international guidance on the management and care of amyotrophic lateral sclerosis (ALS).

AAV9-mediated gene delivery of MCT1 to oligodendrocytes does not provide a therapeutic benefit in a mouse model of ALS

APP processing in human pluripotent stem cell-derived neurons is resistant to NSAID-based γ-secretase modulation.

ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

ATXN2 trinucleotide repeat length correlates with risk of ALS.

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

Amyloid precursor protein mutation E682K at the alternative β-secretase cleavage β'-site increases Aβ generation

An ALS case with 38 (G4C2)-repeats in the C9orf72 gene shows TDP-43 and sparse dipeptide repeat protein pathology

An unusual presentation of Guillain-Barré syndrome associated with monospecific anti-GD1b antibodies

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

Another piece in the progranulin puzzle: special binding between progranulin and prosaposin creates additional lysosomal access: An Editorial Comment for 'The interaction between progranulin and prosaposin is mediated by granulins and the linker reg

Anti-HMGCR antibodies as a biomarker for immune-mediated necrotizing myopathies: A history of statins and experience from a large international multi-center study

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Awaji criteria improves the diagnostic sensitivity in amyotrophic lateral sclerosis: A systematic review using individual patient data

Benefit of the Awaji diagnostic algorithm for amyotrophic lateral sclerosis: a prospective study

Benefits of intensive insulin therapy on neuromuscular complications in routine daily critical care practice: a retrospective study

Beta-2 microglobulin is important for disease progression in a murine model for amyotrophic lateral sclerosis.

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis

C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility

C9orf72-generated poly-GR and poly-PR do not directly interfere with nucleocytoplasmic transport

Cellular Stress Induces Nucleocytoplasmic Transport Deficits Independent of Stress Granules

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Comparison of elevated phosphorylated neurofilament heavy chains in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis

Defining Y-SNP variation among the Flemish population (Western Europe) by full genome sequencing.

Derivation of norms for the Dutch version of the Edinburgh cognitive and behavioral ALS screen

Development of Improved HDAC6 Inhibitors as Pharmacological Therapy for Axonal Charcot-Marie-Tooth Disease

Diagnostic Challenges and Clinical Characteristics of Hepatitis E Virus-Associated Guillain-Barré Syndrome.

Diagnostic yield of testing for RFC1 repeat expansions in patients with unexplained adult-onset cerebellar ataxia

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD.

EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force

EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR).

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy

Finger extension weakness and downbeat nystagmus motor neuron disease syndrome: A novel motor neuron disorder?

Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study

G37R SOD1 mutant alters mitochondrial complex I activity, Ca(2+) uptake and ATP production.

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

Genetic Creutzfeldt-Jakob disease mimicking chronic inflammatory demyelinating polyneuropathy

Genetic ablation of IP3 receptor 2 increases cytokines and decreases survival of SOD1G93A mice

Genetic ablation of phospholipase C delta 1 increases survival in SOD1(G93A) mice

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

GluR2 deficiency accelerates motor neuron degeneration in a mouse model of amyotrophic lateral sclerosis.

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

HDAC3 Inhibition Stimulates Myelination in a CMT1A Mouse Model

HDAC6 inhibition restores TDP-43 pathology and axonal transport defects in human motor neurons with TARDBP mutations

HDAC6 inhibition reverses axonal transport defects in motor neurons derived from FUS-ALS patients

HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease

Hdac6 deletion delays disease progression in the SOD1G93A mouse model of ALS.

How much of the missing heritability of ALS is hidden in known ALS genes?

Identification and characterization of Nanobodies targeting the EphA4 receptor.

IgG4 autoantibodies against muscle-specific kinase undergo Fab-arm exchange in myasthenia gravis patients

Inflammatory markers in cerebrospinal fluid: independent prognostic biomarkers in amyotrophic lateral sclerosis?

Inside out: the role of nucleocytoplasmic transport in ALS and FTLD

Insights into the identification of a molecular signature for amyotrophic lateral sclerosis exploiting integrated microRNA profiling of iPSC-derived motor neurons and exosomes

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

Ivermectin inhibits AMPA receptor-mediated excitotoxicity in cultured motor neurons and extends the life span of a transgenic mouse model of amyotrophic lateral sclerosis

July 2017 ENCALS statement on edaravone

Long-lasting changes in GABA responsiveness in cultured neurons

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Metabolic Syndrome, Neurotoxic 1-Deoxysphingolipids and Nervous Tissue Inflammation in Chronic Idiopathic Axonal Polyneuropathy (CIAP)

Microbleeds and the risk of recurrent stroke

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies

Modelling amyotrophic lateral sclerosis: progress and possibilities

Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS

Multicentre quality control evaluation of different biomarker candidates for amyotrophic lateral sclerosis

Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis

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

NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis

Negative commercial screening test for paraneoplastic antibodies in a case of opsoclonus.

Neurofilament light chain and C reactive protein explored as predictors of survival in amyotrophic lateral sclerosis

Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease.

Neurological picture. FDG-PET findings in three cases of Mills' syndrome

Neuronal overexpression of IP₃ receptor 2 is detrimental in mutant SOD1 mice

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis