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List of works by Anneke J van der Kooi

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands

scientific article

A 43-Year-Old Female with Multifocal Cerebral Lesions. Histiocytic Sarcoma

scientific article published in May 2015

A case series of PLS patients with frontotemporal dementia and overview of the literature

scientific article

Age-related longitudinal changes in metabolic energy expenditure during walking in boys with Duchenne muscular dystrophy.

scientific article published on 15 December 2014

Analysis ofFGGYas a risk factor for sporadic amyotrophic lateral sclerosis

article

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

scientific article published on December 2011

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

scientific article published on 06 May 2019

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

scientific article published in December 2002

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

scientific article

Cardiac involvement in Dutch patients with sarcoglycanopathy: a cross-sectional cohort and follow-up study

scientific article published in December 2014

Changing outcome in inflammatory neuropathies: Rasch-comparative responsiveness

scientific article published on 5 November 2014

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

scientific article

Cognitive dysfunction in lower motor neuron disease: executive and memory deficits in progressive muscular atrophy

scientific article

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

scholarly article

Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies

scientific article

Comparing the NIS vs. MRC and INCAT sensory scale through Rasch analyses

scientific article

Diagnosis and treatment response in the asymmetric variant of chronic inflammatory demyelinating polyneuropathy

scientific article published on 29 May 2019

Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples

scientific article published on 03 June 2015

Effect of Presymptomatic Body Mass Index and Consumption of Fat and Alcohol on Amyotrophic Lateral Sclerosis

scientific article published on 01 October 2015

Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

scientific article

Endogenous female reproductive hormones and the risk of amyotrophic lateral sclerosis

scientific article published on 13 September 2012

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

scientific article

Exploring the fitness hypothesis in ALS: a population-based case-control study of parental cause of death and lifespan

scientific article

Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2.

scientific article published on 7 July 2008

Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.

scientific article

Genetic overlap between apparently sporadic motor neuron diseases

scientific article

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

scientific article published on 25 July 2016

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

scientific article

Grip strength comparison in immune-mediated neuropathies: Vigorimeter vs. Jamar

scientific article

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

scientific article published on 11 October 2012

Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases

article

Impairment measures versus inflammatory RODS in GBS and CIDP: a responsiveness comparison

scientific article

In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease

scientific article

Intravenous immunoglobulins as first-line treatment in idiopathic inflammatory myopathies: a pilot study

scientific article published on 25 October 2020

Intravenous immunoglobulins in patients with clinically suspected chronic immune-mediated neuropathy

scientific article published on 31 December 2018

July 2017 ENCALS statement on edaravone

scientific article

Lamin A/C mutation is independently associated with an increased risk of arterial and venous thromboembolic complications

scientific article published on 14 October 2012

Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers

scientific article published on 29 December 2015

Lifetime physical activity and the risk of amyotrophic lateral sclerosis ⬇️

scientific article published on February 16, 2013

Lithium lacks effect on survival in amyotrophic lateral sclerosis: a phase IIb randomised sequential trial ⬇️

scientific article published on February 29, 2012

Living with muscular dystrophy: health related quality of life consequences for children and adults

scientific article published on 6 June 2007

Local dystrophin restoration with antisense oligonucleotide PRO051

scientific article published on 01 December 2007

Long-Term Air Pollution Exposure and Amyotrophic Lateral Sclerosis in Netherlands: A Population-based Case–control Study.

scientific article

Long-Term Exposure To Traffic Related Air Pollution Is Associated With An Increased Risk Of Amyotrophic Lateral Sclerosis ⬇️

scholarly article

Maintenance IV immunoglobulin treatment in chronic inflammatory demyelinating polyradiculoneuropathy

scientific article published in November 2017

Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

scientific article

Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy

scientific article published on 01 June 2012

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

scientific article

Neurosarcoidosis in a Tertiary Referral Center: A Cross-Sectional Cohort Study

scientific article published on April 2016

No association between gluten sensitivity and amyotrophic lateral sclerosis

scientific article published on 06 February 2017

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

scientific article published on 28 July 2011

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.

scientific article published in May 2008

OptimisAtion of Diagnostic Accuracy in idioPathic inflammaTory myopathies (ADAPT study): a protocol for a prospective diagnostic accuracy study of multimodality testing in patients suspected of a treatable idiopathic inflammatory myopathy

scientific article published in 2021

PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

scientific article published on 19 March 2014

Paraneoplastic Necrotizing Autoimmune Myopathy in a Patient Undergoing Laparoscopic Pancreatoduodenectomy for Distal Cholangiocarcinoma

scientific article published on September 2016

Parental age and the risk of amyotrophic lateral sclerosis

scientific article published on 14 November 2012

Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis

scientific article published on 04 November 2019

Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology

scientific article published on 27 May 2011

Prednisone 10 days on/10 days off in patients with Duchenne muscular dystrophy.

scientific article published on 22 March 2009

Prefrontal involvement related to cognitive impairment in progressive muscular atrophy

scientific article published on 30 July 2014

Prior medical conditions and the risk of amyotrophic lateral sclerosis

scientific article published on 25 July 2014

Progression of cognitive and behavioural impairment in early amyotrophic lateral sclerosis

scientific article published on 13 May 2020

Protocol of a dose response trial of IV immunoglobulin in chronic inflammatory demyelinating polyradiculoneuropathy (DRIP study).

scientific article published on 9 November 2017

Randomised trial of intravenous immunoglobulin maintenance treatment regimens in chronic inflammatory demyelinating polradiculoneuropathy

scientific article published on 02 September 2020

Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients

article

Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. Author response

scientific article published in June 2013

Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. Author response

scientific article

Residential exposure to extremely low frequency electromagnetic fields and the risk of ALS.

scientific article published in October 2014

Serum IgG levels in IV immunoglobulin treated chronic inflammatory demyelinating polyneuropathy

scientific article published on 28 March 2013

The clinical, histological, and genotypic spectrum of SEPN1-related myopathy: A case series

scientific article published on 13 August 2020

The epidemiology of neuromuscular disorders: Age at onset and gender in the Netherlands

scientific article

The frontotemporal syndrome of ALS is associated with poor survival

scientific article published on 26 September 2016

VCP mutations in familial and sporadic amyotrophic lateral sclerosis

scientific article published on 10 November 2011

Vocal cord dysfunction in amyotrophic lateral sclerosis: four cases and a review of the literature.

scientific article

X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy

scientific article published in December 2011

[Recurrent rhabdomyolysis: screening for underlying disease]

scientific article published on 01 January 2010

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