List of works - Esther Brusse

A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients

scientific article published on 18 February 2020

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]

scientific article

A mutation update for the FLNC gene in myopathies and cardiomyopathies

scientific article published on 29 February 2020

A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

scientific article published on 24 April 2009

Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction

scientific article published in May 2002

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

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

scientific article published on 11 March 2013

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

scientific article published on 07 January 2021

Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation

scientific article published on 23 March 2020

Compromised satellite cell activation contributes to continued muscle wasting in Pompe disease

scholarly article by Gerben Schaaf published in February 2016

Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification

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

scientific article published on 03 June 2015

Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease

scientific article published on 19 January 2016

Enzyme replacement therapy and fatigue in adults with Pompe disease

scientific article published on 3 April 2013

Enzyme replacement therapy and fatigue in adults with Pompe disease.

scientific article published on 29 May 2013

Exertional hyperckemia might be the first manifestation of a genetic disorder

scientific article published on 27 July 2013

Fatigue in spinocerebellar ataxia: patient self-assessment of an early and disabling symptom.

scientific article

Guillain-Barré syndrome and chronic inflammatory demyelinating polyradiculoneuropathy after alemtuzumab therapy in kidney transplant recipients

scientific article published on 16 April 2020

Increased CK activity in serum without symptoms: further investigations often unnecessary

scientific article published in January 2013

Increased aortic stiffness and blood pressure in non-classic Pompe disease

scientific article

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

scientific article published on 25 October 2020

Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease

scientific article

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease

scientific article published on 16 October 2019

Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study

scientific article published on 8 November 2017

Long-term remission of CIDP after pulsed dexamethasone or short-term prednisolone treatment ⬇️

scientific article published on March 21, 2012

Maintenance IV immunoglobulin treatment in chronic inflammatory demyelinating polyradiculoneuropathy

scientific article published in November 2017

Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literature

scientific article published on 22 January 2020

Phenotypical variation within 22 families with Pompe disease

scientific article

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

scientific article published on 9 November 2017

Pulsed high-dose dexamethasone versus standard prednisolone treatment for chronic inflammatory demyelinating polyradiculoneuropathy (PREDICT study): a double-blind, randomised, controlled trial

scientific article published on 2 February 2010

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

scientific article published on 02 September 2020

Serum IgG levels in IV immunoglobulin treated chronic inflammatory demyelinating polyneuropathy

scientific article published on 28 March 2013

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype

scientific article

Three diagnoses become one: a woman with ground-glass attenuation develops fever

scientific article published on March 2010

List of works by Esther Brusse

A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]

A mutation update for the FLNC gene in myopathies and cardiomyopathies

A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction

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

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

Chest MRI to diagnose early diaphragmatic weakness in Pompe disease

Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation

Compromised satellite cell activation contributes to continued muscle wasting in Pompe disease

Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification

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

Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease

Enzyme replacement therapy and fatigue in adults with Pompe disease

Enzyme replacement therapy and fatigue in adults with Pompe disease.

Exertional hyperckemia might be the first manifestation of a genetic disorder

Fatigue in spinocerebellar ataxia: patient self-assessment of an early and disabling symptom.

Guillain-Barré syndrome and chronic inflammatory demyelinating polyradiculoneuropathy after alemtuzumab therapy in kidney transplant recipients

Increased CK activity in serum without symptoms: further investigations often unnecessary

Increased aortic stiffness and blood pressure in non-classic Pompe disease

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

Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease

Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease

Long-term benefit of enzyme replacement therapy in Pompe disease: A 5-year prospective study

Long-term remission of CIDP after pulsed dexamethasone or short-term prednisolone treatment ⬇️

Maintenance IV immunoglobulin treatment in chronic inflammatory demyelinating polyradiculoneuropathy

Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literature

Phenotypical variation within 22 families with Pompe disease

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

Pulsed high-dose dexamethasone versus standard prednisolone treatment for chronic inflammatory demyelinating polyradiculoneuropathy (PREDICT study): a double-blind, randomised, controlled trial

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

Serum IgG levels in IV immunoglobulin treated chronic inflammatory demyelinating polyneuropathy

Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype

Three diagnoses become one: a woman with ground-glass attenuation develops fever